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
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:151896589C>A	uc004fgb.3	-	2		c.400G>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557000													5	108					0.00116845	0.00127714	0.217242	1	0
ADH1B	125	broad.mit.edu	37	4	100235204	100235204	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr4:100235204A>T	uc003hus.4	-	5	686	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	ADH1B_uc003hut.4_Missense_Mutation_p.L161Q|ADH1B_uc011ceh.2_Missense_Mutation_p.L46Q|ADH1B_uc011cei.1_Missense_Mutation_p.L161Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	201					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G200G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACCCCTCCCAGGCCAAACAC	0.463000													13	364					0	0	0.411799	0	0
FCRL3	115352	broad.mit.edu	37	1	157665373	157665373	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:157665373G>T	uc001fqz.4	-	7	1449	c.1157C>A	c.(1156-1158)aCc>aAc	p.T386N	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.T112N|FCRL3_uc001frb.3_Missense_Mutation_p.T386N|FCRL3_uc001frc.1_Missense_Mutation_p.T386N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	386	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCCCTGAAGGTGAGGACAGG	0.557000													24	47					3.28513e-13	3.76588e-13	0.667858	1	0
NLRP8	126205	broad.mit.edu	37	19	56466833	56466833	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:56466833G>A	uc002qmh.3	+	2	1480	c.1409G>A	c.(1408-1410)gGt>gAt	p.G470D	NLRP8_uc010etg.3_Missense_Mutation_p.G470D	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	470	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGGTGTTAGGTAAAGAAGAT	0.502000													7	182					0	0	0.248553	0	0
CASP1	834	broad.mit.edu	37	11	104915359	104915359	+	Silent	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr11:104915359G>A	uc001pip.1	-	1	61	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Silent_p.L12L	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	12	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGGATAAACAGCTTTCTCTTC	0.418000													23	389					0	0	0.693898	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91795	91795	+	RNA	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrGL000211.1:91795G>A	uc003bnz.1	+	6		c.1151G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAATTTGTATGTTGGATAGTG	0.383000													4	26					0	0	0.217242	0	0
FAM186B	84070	broad.mit.edu	37	12	49992644	49992644	+	Missense_Mutation	SNP	A	A	G	rs140386687	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr12:49992644A>G	uc001ruo.3	-	4	2431	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	FAM186B_uc010smk.2_Missense_Mutation_p.I663T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	753						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCGGTCAATGTTTTCCAG	0.537000													66	78					0	0	0.870114	0	0
LINC00477	144360	broad.mit.edu	37	12	24736169	24736169	+	RNA	SNP	T	T	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr12:24736169T>C	uc001rgb.1	-	0		c.934A>G								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		AAGAAGAAAGTGGTCAAAGAA	0.507000													11	9					0	0	0.361761	0	0
SDHAP3	728609	broad.mit.edu	37	5	1574406	1574406	+	RNA	SNP	T	T	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr5:1574406T>C	uc011cmd.1	-	2		c.440A>G			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCATCAATCTGCACCTGAGG	0.478000													3	22					0	0	0.115264	0	0
POTEC	388468	broad.mit.edu	37	18	14543057	14543057	+	Missense_Mutation	SNP	T	T	G	rs9807633	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:14543057T>G	uc010dln.3	-	0	543	c.89A>C	c.(88-90)cAc>cCc	p.H30P	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	30			H -> P (in dbSNP:rs9807633).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGGGAAGCGGTGGTGAAACCA	0.537000													6	150					0	0	0.248553	0	0
ITPKC	80271	broad.mit.edu	37	19	41223412	41223412	+	Silent	SNP	A	A	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41223412A>C	uc002oot.3	+	0	405	c.372A>C	c.(370-372)ctA>ctC	p.L124L	ADCK4_uc002ooq.2_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	124						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGACGCATCTAGAATGGAGCT	0.607000													42	80					0	0	0.840704	0	0
IQCF1	132141	broad.mit.edu	37	3	51929062	51929062	+	Silent	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:51929062G>A	uc003dbv.3	-	3	560	c.462C>T	c.(460-462)atC>atT	p.I154I	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTAAGCCTGGATGATGCGAA	0.607000													10	280					0	0	0.387290	0	0
VRK1	7443	broad.mit.edu	37	14	97321577	97321577	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:97321577A>G	uc001yft.3	+	7	699	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	198	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTGGTAGATTATGGCCTTGCT	0.393000													78	106					0	0	0.870114	0	0
MYOM3	127294	broad.mit.edu	37	1	24419503	24419503	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:24419503G>A	uc001bin.4	-	9	1187	c.1024C>T	c.(1024-1026)Ctc>Ttc	p.L342F	MYOM3_uc001bim.4_5'UTR|MYOM3_uc001bio.3_Missense_Mutation_p.L342F|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	342	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCATGTAGAGCCCCTCGTCC	0.637000													19	20					0	0	0.575678	0	0
TAT	6898	broad.mit.edu	37	16	71602180	71602180	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:71602180T>C	uc002fap.2	-	11	1331	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	411					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTCGGGTACTCAAAGCACTG	0.502000													3	58					0	0	0.150653	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52889613	52889613	+	Silent	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:52889613C>T	uc001cty.2	-	29	5185	c.4932G>A	c.(4930-4932)tcG>tcA	p.S1644S	ZCCHC11_uc001ctx.2_Silent_p.S1643S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1643					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCATTACTCCGACACGTTTC	0.507000													16	19					0	0	0.539581	0	0
FOXP2	93986	broad.mit.edu	37	7	114269949	114269949	+	Silent	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr7:114269949A>G	uc003vhb.3	+	4	860	c.486A>G	c.(484-486)caA>caG	p.Q162Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q187Q|FOXP2_uc003vha.3_Silent_p.Q70Q|FOXP2_uc011kmv.2_Silent_p.Q162Q|FOXP2_uc011kmu.2_Silent_p.Q179Q|FOXP2_uc010ljz.2_Silent_p.Q70Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q162Q|FOXP2_uc003vgx.2_Silent_p.Q162Q|FOXP2_uc003vhc.3_Silent_p.Q187Q|FOXP2_uc003vhd.3_Silent_p.Q162Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	162	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacaacagcagcaac	0.488000													2	7					0	0	0.248553	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	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								40	66					0	0	0.859065	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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)			30	31					0	0	0.729181	0	0
DSG4	147409	broad.mit.edu	37	18	28983444	28983444	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:28983444C>T	uc002kwr.2	+	10	1618	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	DSG4_uc002kwq.2_Missense_Mutation_p.P495S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	495	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATTATTGTCCAAACATTTT	0.383000													27	34					0	0	0.693898	0	0
CST8	10047	broad.mit.edu	37	20	23472506	23472506	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr20:23472506G>C	uc002wth.1	+	1	559	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	68						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGTCTTCCTGGTGGTCAAGAC	0.468000													6	114					0	0	0.217242	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	23					0	0	0.150653	0	0
VNN1	8876	broad.mit.edu	37	6	133015129	133015129	+	Splice_Site	SNP	C	C	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:133015129C>G	uc003qdo.3	-	3	554	c.534_splice	c.e3+1	p.K178_splice		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	178	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTAATTTTACCTTATGGTAGC	0.373000													4	85					0	0	0.184627	0	0
CAMTA2	23125	broad.mit.edu	37	17	4876949	4876949	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:4876949C>T	uc010cku.2	-	12	2613	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	CAMTA2_uc002gag.2_Missense_Mutation_p.G710D|CAMTA2_uc002gah.2_Missense_Mutation_p.G711D|CAMTA2_uc002gai.2_Missense_Mutation_p.G713D|CAMTA2_uc010ckv.1_Missense_Mutation_p.G358D	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	711					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGGCTCATGCCCCGGAAGGG	0.647000													4	68					0	0	0.150653	0	0
TFDP3	51270	broad.mit.edu	37	X	132351780	132351780	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:132351780C>A	uc004exb.1	-	0	597	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	170						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCATCAGCACGTTTAAGGCA	0.502000													3	53					0.115264	0.123123	0.115264	1	0
FMO1	2326	broad.mit.edu	37	1	171254528	171254528	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:171254528G>A	uc009wvz.3	+	8	1580	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	FMO1_uc010pme.2_Missense_Mutation_p.E419K|FMO1_uc001ghl.3_Missense_Mutation_p.E482K|FMO1_uc001ghm.3_Missense_Mutation_p.E482K	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	482					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGAAAATGGGAAGGAGCCAG	0.502000													41	69					0	0	0.840704	0	0
IL17RC	84818	broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:9959040G>A	uc003bua.3	+	0	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.R14Q|IL17RC_uc003btz.3_Missense_Mutation_p.R14Q|IL17RC_uc011atp.2_5'UTR|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.R14Q|IL17RC_uc010hcu.3_Missense_Mutation_p.R14Q|IL17RC_uc003bub.3_Missense_Mutation_p.R14Q|IL17RC_uc010hcv.3_Missense_Mutation_p.R14Q|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.R14Q	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	14						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657000													5	73					0	0	0.248553	0	0
LILRA1	11024	broad.mit.edu	37	19	55086405	55086405	+	Missense_Mutation	SNP	C	C	T	rs74454618		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:55086405C>T	uc010ern.3	+	4	1029	c.560C>T	c.(559-561)cCg>cTg	p.P187L	LILRA1_uc002qgg.4_Missense_Mutation_p.P187L|LILRA1_uc002qgf.3_Missense_Mutation_p.P187L|LILRA1_uc010yfe.1_Missense_Mutation_p.P187L|LILRA1_uc010yff.1_Missense_Mutation_p.P175L|LILRA1_uc010ero.3_Missense_Mutation_p.P175L|LILRA1_uc010yfg.1_Missense_Mutation_p.P187L			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	189	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCGTGAGCCCGAGTCGCAGG	0.587000													99	109					0	0	0.870114	0	0
LINGO2	158038	broad.mit.edu	37	9	27950110	27950110	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr9:27950110C>T	uc003zqv.1	-	6	1210	c.560G>A	c.(559-561)tGc>tAc	p.C187Y	LINGO2_uc010mjf.1_Missense_Mutation_p.C187Y|LINGO2_uc003zqu.1_Missense_Mutation_p.C187Y|LINGO2_uc022bfc.1_Missense_Mutation_p.C187Y	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	187						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTAAGTTGCATTTCTCCAG	0.483000													45	65					0	0	0.840704	0	0
LCE2C	353140	broad.mit.edu	37	1	152648675	152648675	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:152648675G>A	uc021ozc.1	+	0	184	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	LCE2C_uc001fah.3_Missense_Mutation_p.G62S	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	62	Cys-rich.				keratinization			p.G61V(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.662000													5	155					0	0	0.217242	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506110	64506110	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr15:64506110T>C	uc002anf.3	-	5	1138	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.I220V|CSNK1G1_uc002anh.1_Missense_Mutation_p.I220V|CSNK1G1_uc002anj.3_Missense_Mutation_p.I202V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	220	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TGCGTGTTGATAGACATATAT	0.383000													8	218					0	0	0.278610	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91868	91868	+	RNA	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrGL000211.1:91868G>A	uc003bnz.1	+	6		c.1224G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AGATACATAAGGAGTCAGACC	0.348000													4	50					0	0	0.184627	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103599762	103599762	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:103599762C>T	uc001ymm.1	+	8	1740	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Missense_Mutation_p.R206C|TNFAIP2_uc010tya.1_Missense_Mutation_p.R20C	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	537					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAGCAAGGGGCGCCTGGTCCT	0.622000													40	53					0	0	0.870114	0	0
FAM124B	79843	broad.mit.edu	37	2	225266432	225266432	+	Silent	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:225266432A>G	uc002vnx.3	-	0	280	c.54T>C	c.(52-54)tcT>tcC	p.S18S	FAM124B_uc002vnw.3_Silent_p.S18S	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	18							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGCCGTGCCCAGAGTTGGCAA	0.582000													4	75					0	0	0.150653	0	0
NUMBL	9253	broad.mit.edu	37	19	41183289	41183289	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41183289G>C	uc002oon.3	-	6	746	c.578C>G	c.(577-579)gCc>gGc	p.A193G	NUMBL_uc010xvq.2_Missense_Mutation_p.A152G|NUMBL_uc010xvr.2_Missense_Mutation_p.A152G|NUMBL_uc002ooo.3_Missense_Mutation_p.A193G	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	193	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCAGGCGGCAAAAGCACA	0.697000													17	23					0	0	0.575678	0	0
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGGACGCGGGTGCCGGGCGG	0.612000		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)			49	44					5.57489e-27	6.5505e-27	0.870114	1	0
MYO10	4651	broad.mit.edu	37	5	16694555	16694555	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr5:16694555C>T	uc003jft.4	-	26	4193	c.3725G>A	c.(3724-3726)cGc>cAc	p.R1242H	MYO10_uc011cnc.2_Missense_Mutation_p.R121H|MYO10_uc011cnd.2_Missense_Mutation_p.R599H|MYO10_uc011cne.2_Missense_Mutation_p.R599H|MYO10_uc010itx.3_Missense_Mutation_p.R865H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1242	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTGGACTGGCGGAGGACAAA	0.567000													24	186					0	0	0.681144	0	0
LOC731275	731275	broad.mit.edu	37	1	243251423	243251423	+	RNA	DEL	A	A	-			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:243251423delA	uc001hzq.2	-	7		c.1209delT								Homo sapiens uncharacterized LOC731275 (LOC731275), non-coding RNA.																		actccatctcaaaaaaaaaaa	0.458													3	3	---	---	---	---					
LACC1	144811	broad.mit.edu	37	13	44455647	44455647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr13:44455647delG	uc010acg.3	+	1	1011	c.526delG	c.(526-528)ggafs	p.G176fs	CCDC122_uc010acf.3_5'Flank|LACC1_uc001uzf.4_Frame_Shift_Del_p.G176fs	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	176																	AGCACTGAGAGGAAAATTAAC	0.328													51	98	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938749	76938765	+	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	GTCGCCTCAAGGGTGTA	-			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:76938749_76938765delGTCGCCTCAAGGGTGTA	uc004ecp.4	-	8	2215_2231	c.1983_1999delTACACCCTTGAGGCGAC	c.(1981-2001)actacacccttgaggcgaccgfs	p.T661fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.T623fs|ATRX_uc004eco.4_Frame_Shift_Del_p.T446fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.T593fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.T632fs|ATRX_uc010nly.1_Frame_Shift_Del_p.T606fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	661					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)	GTTTCTGTCGGTCGCCTCAAGGGTGTAGTCTTTACAC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						90	92	---	---	---	---					
DACH2	117154	broad.mit.edu	37	X	85994757	85994758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:85994757_85994758insC	uc004eew.2	+	6	1282_1283	c.1112_1113insC	c.(1111-1113)atcfs	p.I371fs	DACH2_uc004eex.2_Frame_Shift_Ins_p.I358fs|DACH2_uc010nmq.2_Frame_Shift_Ins_p.I237fs|DACH2_uc011mra.1_Frame_Shift_Ins_p.I204fs|DACH2_uc010nmr.2_Frame_Shift_Ins_p.I152fs|DACH2_uc004eey.3_Frame_Shift_Ins_p.I54fs|DACH2_uc004eez.3_Frame_Shift_Ins_p.I54fs	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R370W(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAGGAGCGGATCCCAGAGAGTC	0.485													2	4	---	---	---	---					
