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
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												
HSP90B3P	343477	broad.mit.edu	37	1	92108745	92108745	+	Nonsense_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.chr1:92108745C>T	uc010osx.2	+	2	772	c.772C>T	c.(772-774)Caa>Taa	p.Q258*						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		CCACTCCAATCAAACATGTCT	0.373												
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												
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												
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												
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												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		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.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
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												
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			
TRIM51	84767	broad.mit.edu	37	11	55652963	55652963	+	Missense_Mutation	SNP	A	A	G	rs2063276	by1000genomes	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.chr11:55652963A>G	uc010rip.2	+	1	151	c.59A>G	c.(58-60)aAc>aGc	p.N20S	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	20						intracellular	zinc ion binding										ATCTGCATGAACTACTTCCTA	0.502												
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												
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												
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												
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												
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			
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			
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												
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)		
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												
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	0.460			"""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)		
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												
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												
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												
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												
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												
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												
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												
PI4KAP2	375133	broad.mit.edu	37	22	21837349	21837351	+	In_Frame_Del	DEL	CTT	CTT	-			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.chr22:21837349_21837351delCTT	uc002zuv.4	-	5	2935_2937	c.676_678delAAG	c.(676-678)aagdel	p.K226del	PI4KAP2_uc002zuw.3_Non-coding_Transcript|PI4KAP2_uc011aid.2_Non-coding_Transcript|PI4KAP2_uc011aie.1_In_Frame_Del_p.K226del|PI4KAP2_uc011aif.1_5'UTR|PI4KAP2_uc002zux.2_In_Frame_Del_p.K226del					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						ACAGACAAGCCTTCTTTCTCTCG	0.616												
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	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.chr3:75476630T>G	uc003dpp.4	-	5	794	c.435A>C	c.(433-435)gtA>gtC	p.V145V	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Silent_p.V53V|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582												
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												
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												
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												
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												
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												
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												
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												
Unknown	402644	broad.mit.edu	37	7	28319007	28319007	+	Silent	SNP	T	T	A	rs177483	by1000genomes	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.chr7:28319007T>A								JAZF1-AS1 (38011 upstream) : CREB5 (19933 downstream)																							TTGTGTTGGGTCCAGAATTTG	0.463												
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												
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"""					
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												
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												
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												
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