Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
USP10	9100	broad.mit.edu	37	16	84778248	84778248	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:84778248A>G	uc010voe.2	+	4	424	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	USP10_uc002fii.3_Missense_Mutation_p.Y54C|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	54	Interaction with p53/TP53.				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			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGACAAGAATATCAGAGAATT	0.393000													3	28					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243683	1243683	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:1243683C>T	uc003jby.2	+	8	1268	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	382					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)			GCCTCGGGCCCGGGCCTGGCC	0.647000													7	34					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	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	0.612000													17	29					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:59831748G>A	uc001nom.3	+	3	436	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_uc001non.3_Missense_Mutation_p.G57E|MS4A3_uc001noo.3_5'UTR	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.	103						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.G103R(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363000													3	29					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47753113	47753113	+	Splice_Site	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:47753113C>T	uc009ylv.3	-	12	1974	c.1821_splice	c.e12-1	p.R607_splice	FNBP4_uc001ngj.3_Splice_Site_p.R514_splice|FNBP4_uc001ngl.2_Splice_Site	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	607	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTCTATGATCCCTAAATTACA	0.438000													24	28					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318281	30318281	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:30318281C>T	uc009xle.2	-	2	933	c.796G>A	c.(796-798)Gca>Aca	p.A266T	KIAA1462_uc001iux.3_Missense_Mutation_p.A266T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A128T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	266	Pro-rich.							p.C265C(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						AAATTTGGTGCGCAAGTGGGA	0.522000													6	61					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67517761	67517761	+	Splice_Site	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:67517761G>A	uc001ddk.2	-	4	709	c.325_splice	c.e4-1	p.T109_splice	SLC35D1_uc010oph.2_Splice_Site_p.T30_splice	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	109					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGTGGAAACGTCTAGAAAAT	0.299000													22	32					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124810104	124810104	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:124810104G>A	uc021rga.1	-	46	7527	c.7410C>T	c.(7408-7410)ccC>ccT	p.P2470P	NCOR2_uc021rgb.1_Silent_p.P2408P|NCOR2_uc010tbb.2_Silent_p.P2463P|NCOR2_uc010tbc.2_Silent_p.P2407P|NCOR2_uc021rgc.1_Silent_p.P2453P|NCOR2_uc010tax.2_Silent_p.P509P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2474					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|Notch binding|histone deacetylase 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)		GCATGATCAGGGGGTTGTAGG	0.721000													3	1					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172560	38172560	+	Silent	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:38172560C>T	uc002htp.3	+	2	393	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CSF3_uc002hto.3_Silent_p.P90P|CSF3_uc002htq.3_Silent_p.P86P|CSF3_uc021tww.1_Intron|CSF3_uc021twx.1_Intron|CSF3_uc010wep.2_Intron	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	93					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCTGGGCTCCCCTGAGCAGCT	0.632000													8	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230419	21230419	+	Silent	SNP	G	G	A	rs72653101		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:21230419G>A	uc002red.3	-	25	9449	c.9321C>T	c.(9319-9321)aaC>aaT	p.N3107N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3107					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)	TAATGTTCTCGTTGTTTCCAG	0.403000													33	46					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32684527	32684527	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr20:32684527G>C	uc002xaf.3	-	5	788	c.619C>G	c.(619-621)Cca>Gca	p.P207A		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	207						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACGACTTGTGGAGGTTTCATG	0.388000													4	106					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46431879	46431879	+	Silent	SNP	C	C	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:46431879C>G	uc001ncv.2	-	17	3479	c.3165G>C	c.(3163-3165)ctG>ctC	p.L1055L	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Silent_p.L1023L|AMBRA1_uc001ncu.1_Silent_p.L962L|AMBRA1_uc010rgu.1_Silent_p.L1052L|AMBRA1_uc001ncw.2_Silent_p.L933L|AMBRA1_uc001ncx.2_Silent_p.L992L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1052					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)		CCGTCTCGTTCAGCTGGTCCC	0.532000													7	103					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222131	56222131	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:56222131G>T	uc001shu.2	-	0	368	c.312C>A	c.(310-312)gaC>gaA	p.D104E	DNAJC14_uc001shx.1_Missense_Mutation_p.D104E|DNAJC14_uc009zob.1_Missense_Mutation_p.D104E|DNAJC14_uc001shy.1_Missense_Mutation_p.D104E	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	104					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAGTTCCTGGTCCACTCCTG	0.527000													9	300					0.000274275	0.000287989	1	1	0
ADCY1	107	broad.mit.edu	37	7	45717491	45717491	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:45717491G>A	uc003tne.4	+	8	1647	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	543					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)	GAACAGCCTCGGAAAAACTCA	0.498000													4	125					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974773	49974773	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:49974773A>G	uc010rhz.2	+	0	831	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	267					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						ACCCATTGATAAAGCAGTTGC	0.393000													4	91					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10370011	10370011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:10370011G>A	uc002gmn.3	-	2	163	c.52C>T	c.(52-54)Cga>Tga	p.R18*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	18	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TCAGACTTTCGGAGGAAAGGA	0.478000													14	83					0	0	1	0	0
UBE2G2	7327	broad.mit.edu	37	21	46207992	46207992	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr21:46207992G>A	uc002zfy.3	-	1	150	c.62C>T	c.(61-63)cCg>cTg	p.P21L	UBE2G2_uc002zfx.3_5'UTR|UBE2G2_uc021wjt.1_Intron	NM_003343	NP_001189418	P60604	UB2G2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBE2G2), transcript variant 1, mRNA.	21					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	p.P21S(1)		breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		AATTCCTTCCGGAGGATTCAG	0.269000													12	19					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553705	27553705	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:27553705A>T	uc001rht.2	+	9	1377	c.1158A>T	c.(1156-1158)caA>caT	p.Q386H	ARNTL2_uc001rhu.2_Missense_Mutation_p.Q372H|ARNTL2_uc001rhv.2_Missense_Mutation_p.Q338H|ARNTL2_uc001rhw.3_Missense_Mutation_p.Q349H|ARNTL2_uc010sjp.2_Missense_Mutation_p.Q349H|ARNTL2_uc009zji.2_Missense_Mutation_p.Q352H|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	386	PAS 2.				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			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)					ATGTAGATCAAAGGTAAACAT	0.323000													21	20					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	A	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000													4	36					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414226	68414226	+	RNA	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:68414226C>T	uc004aex.3	+	0		c.781C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		AGGGTGACACCCACCAGGGGT	0.547000													3	12					0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74652340	74652340	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:74652340G>A	uc002slb.3	+	7	834	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	258										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCGCCCTGGACCTGGCTT	0.527000													34	61					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion 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	0.393000			Mis		gliobastoma								9	26					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24875312	24875312	+	Silent	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:24875312T>C	uc003grc.3	-	2	354	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CCDC149_uc003grd.3_Silent_p.K85K|CCDC149_uc011bxr.2_Silent_p.K85K|CCDC149_uc003gre.3_Silent_p.K30K	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTTCCTTTTTTCAGGAG	0.343000													7	9					0	0	1	0	0
FLJ00322	0	broad.mit.edu	37	16	15023266	15023266	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:15023266C>G	uc010uzk.2	+	5	1111	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	NPIP_uc002dcx.4_Non-coding_Transcript					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGAGGAGCCCCTGACGCTGGC	0.701000													4	46					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:65268729G>T	uc001dbt.2	+	3	860	c.813G>T	c.(811-813)ttG>ttT	p.L271F	RAVER2_uc001dbs.2_Missense_Mutation_p.L392F|RAVER2_uc010opb.2_Missense_Mutation_p.L271F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	392	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323000													10	54					7.03913e-09	7.51636e-09	1	1	0
HLA-J	3137	broad.mit.edu	37	6	29977342	29977342	+	Missense_Mutation	SNP	A	A	T	rs116382006	by1000genomes	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:29977342A>T	uc021yty.1	+	4	388	c.370A>T	c.(370-372)Agg>Tgg	p.R124W	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TGGGACTGAGAGGCAAGATTT	0.438000													3	36					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606071	21606071	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:21606071A>G	uc003cce.3	-	2	679	c.271T>C	c.(271-273)Tct>Cct	p.S91P	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	91						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						CTTACATCAGAATTAAATCTC	0.343000													3	38					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:95522727C>A	uc010fhp.3	-	0		c.94G>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.R64L(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CTGCTTGTCCCGGGCGTCCAG	0.731000													3	39					0.00116845	0.00120676	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47704025	47704025	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:47704025T>C	uc003crq.2	-	19	2075	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.T544A	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.	653	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			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)		TCATCCTGAGTACGACTTCCA	0.458000													3	37					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349018	100349018	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:100349018T>A	uc003huv.2	-	4	753	c.512A>T	c.(511-513)aAg>aTg	p.K171M	ADH7_uc021xqj.1_Missense_Mutation_p.K179M	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	171					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)	ATCATCAATCTTAGCAACAGA	0.463000													7	49					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	rs76927023	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr18:14779986G>A	uc010dlo.2	+	10	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.R483Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284000													4	10					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158601111	158601111	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:158601111A>C	uc010jiq.2	-	5	917	c.767T>G	c.(766-768)gTa>gGa	p.V256G	RNF145_uc011ddy.2_Missense_Mutation_p.V240G|RNF145_uc003lxo.2_Missense_Mutation_p.V254G|RNF145_uc011ddz.2_Missense_Mutation_p.V243G|RNF145_uc003lxp.3_Missense_Mutation_p.V226G|RNF145_uc011dea.2_Missense_Mutation_p.V242G	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	226						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAGGGACTACCAGTTGATT	0.433000													7	17					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241554	155241554	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:155241554G>A	uc003inw.2	-	13	3632	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1211	Cadherin 10.				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)		TAGCATAAACGTCATGTTTTC	0.408000													22	46					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413565	68413565	+	RNA	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:68413565G>A	uc004aex.3	+	0		c.120G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		AGCTCCCCCAGTGGCGCCGGA	0.597000													3	9					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938920	76938920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:76938920G>A	uc004ecp.4	-	8	2060	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Q572*|ATRX_uc004eco.4_Nonsense_Mutation_p.Q395*|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q542*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q581*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q555*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	610					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TCTTTATCTTGTGGAACTTCC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						102	36					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768629	131768629	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:131768629G>A	uc004bws.1	+	42	5077	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1685					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						GGATGAAGCAGGAGCTCAGCT	0.592000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	237					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413569	68413569	+	RNA	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:68413569C>T	uc004aex.3	+	0		c.124C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCCCCAGTGGCGCCGGATCTA	0.602000													3	8					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154295506	154295506	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:154295506G>A	uc001feu.3	+	2	321	c.281G>A	c.(280-282)cGc>cAc	p.R94H	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)			ATCGTTGGACGCCTCCCCTGG	0.532000													9	82					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522460	157522460	+	Missense_Mutation	SNP	A	A	G	rs139214813		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:157522460A>G	uc003qqp.3	+	16	4693	c.4693A>G	c.(4693-4695)Atg>Gtg	p.M1565V	ARID1B_uc003qqo.3_Missense_Mutation_p.M1578V|ARID1B_uc003qqn.3_Missense_Mutation_p.M1618V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1565	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)		TCTGCCGTCTATGAAGATGCA	0.602000													6	126					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71160766	71160766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:71160766C>T	uc001jpl.4	+	17	2730	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	HK1_uc001jpg.4_Nonsense_Mutation_p.Q865*|HK1_uc001jph.4_Nonsense_Mutation_p.Q881*|HK1_uc001jpi.4_Nonsense_Mutation_p.Q881*|HK1_uc001jpj.4_Nonsense_Mutation_p.Q912*|HK1_uc001jpk.4_Nonsense_Mutation_p.Q876*	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	877	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AATCATGCACCAGACGGTGAA	0.552000													21	43					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924630	153924630	+	Silent	SNP	C	C	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:153924630C>A	uc021pab.1	-	9	1020	c.861G>T	c.(859-861)ctG>ctT	p.L287L	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	287					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)			GGGGGGTGGGCAGTGGTGGGG	0.612000													4	97					0.00909568	0.00924238	1	1	0
PIGS	94005	broad.mit.edu	37	17	26890508	26890508	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:26890508G>T	uc002hbo.2	-	4	782	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	PIGS_uc002hbn.2_Missense_Mutation_p.Q129K|PIGS_uc010wap.1_Missense_Mutation_p.Q76K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	137					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGCTTGTTCCTGAGGC	0.527000													21	34					1.55795e-14	1.75269e-14	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347873	140347873	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:140347873C>T	uc003lii.3	+	0	2127	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	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_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.L508F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	508	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)			GACCTACTCCCTTCTGGAGAG	0.488000													4	97					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358192	57358192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:57358192C>T	uc004dvc.3	+	3	723	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	192						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATCTATGGCCGATCAAACAA	0.403000										HNSCC(52;0.14)			43	12					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86076938	86076938	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr15:86076938T>C	uc002blv.1	+	3	475	c.305T>C	c.(304-306)tTc>tCc	p.F102S	AKAP13_uc002bls.3_Missense_Mutation_p.F102S|AKAP13_uc002blt.1_Missense_Mutation_p.F102S|AKAP13_uc002blu.1_Missense_Mutation_p.F102S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	102					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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|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						GCAGCTCAATTCCTAGCAACC	0.493000													37	46					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69189859	69189859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:69189859G>A	uc003hdx.3	-	9	1785	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.Q460*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	478	YTH.									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						CCACAAACCTGTCCATCACGT	0.353000													6	42					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11095998	11095998	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:11095998A>G	uc010dxp.3	+	3	632	c.272A>G	c.(271-273)aAc>aGc	p.N91S	SMARCA4_uc010dxo.3_Missense_Mutation_p.N91S|SMARCA4_uc002mqf.4_Missense_Mutation_p.N91S|SMARCA4_uc002mqg.1_Missense_Mutation_p.N91S|SMARCA4_uc010dxq.3_Missense_Mutation_p.N91S|SMARCA4_uc010dxr.3_Missense_Mutation_p.N91S|SMARCA4_uc002mqj.4_Missense_Mutation_p.N91S|SMARCA4_uc010dxs.3_Missense_Mutation_p.N91S|SMARCA4_uc002mqe.2_Missense_Mutation_p.N91S	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.	91	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|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	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|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)				CCGCGCTACAACCAGATGAAA	0.632000			"""F, N, Mis"""		NSCLC								15	37					0	0	1	0	0
DAP	1611	broad.mit.edu	37	5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:10748365C>T	uc011cmw.2	-	1	281	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_uc003jez.4_Missense_Mutation_p.R25Q			P51397	DAP1_HUMAN	Homo sapiens death-associated protein (DAP), mRNA.	25					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of NF-kappaB transcription factor activity|negative regulation of autophagy|negative regulation of transcription, DNA-dependent		death domain binding	p.R25Q(2)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502000													14	24					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:143175752G>A	uc003wdc.1	+	0	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	263					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)					CATGCAGAACGACTTTTACTG	0.473000													4	67					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933438	127933438	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:127933438C>T	uc010mwv.3	-	2	429	c.208G>A	c.(208-210)Gac>Aac	p.D70N	PPP6C_uc004bpg.4_Missense_Mutation_p.D33N|PPP6C_uc010mww.3_Missense_Mutation_p.D33N|PPP6C_uc011lzr.2_5'UTR	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	33					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAGAGGAGGTCACAAACGTAG	0.328000													32	49					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:7577120C>A	uc002gim.2	-	7	1012	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L|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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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	0.542000	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)			18	7					6.94344e-10	7.54202e-10	1	1	0
SCAF1	58506	broad.mit.edu	37	19	50154597	50154597	+	Silent	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:50154597C>T	uc002poq.3	+	6	1075	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	317					RNA splicing|mRNA processing	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)		TCCCAGGTGACGAGAGCCCCC	0.697000													3	14					0	0	1	0	0
TMEM129	92305	broad.mit.edu	37	4	1722422	1722422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:1722422delA	uc003gdn.3	-	0	663	c.143delT	c.(142-144)ttcfs	p.F48fs	TMEM129_uc010iby.3_5'Flank|TMEM129_uc003gdm.3_Frame_Shift_Del_p.F48fs|TACC3_uc010ibz.3_5'Flank|TACC3_uc003gdo.3_5'Flank|TACC3_uc003gdp.3_5'Flank	NM_001127266	NP_001120738	A0AVI4	TM129_HUMAN	Homo sapiens transmembrane protein 129 (TMEM129), transcript variant 1, mRNA.	48						integral to membrane				lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAAGGGCACGAAGGCGGCGTC	0.711													2	4	---	---	---	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													4	6	---	---	---	---					
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	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				14	4	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													6	6	---	---	---	---					
