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
SRSF12	135295	broad.mit.edu	37	6	89808601	89808601	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:89808601G>C	ENST00000452027.2	-	5	675	c.482C>G	c.(481-483)tCt>tGt	p.S161C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	161	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGCTGAGGTAGACCGCCTTGG	0.428000													44	123					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026458	147026458	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:147026458C>T	ENST00000218200.8	+	14	1707	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370475.4_Missense_Mutation_p.S514L|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTGGTCATTAGCTCCA	0.493000									Fragile X syndrome				8	21					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25144833	25144833	+	RNA	SNP	A	A	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:25144833A>G	ENST00000453498.1	+	0	374																											GGAGCCGCAAATATGGGAACT	0.443000													3	25					0	0	1	0	0
GABBR1	0	broad.mit.edu	37	6	29591190	29591190	+	Silent	SNP	T	T	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:29591190T>G	ENST00000377034.4	-	8	1190	c.855A>C	c.(853-855)cgA>cgC	p.R285R	GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000376977.3_Silent_p.R285R|GABBR1_ENST00000377016.4_Silent_p.R223R|GABBR1_ENST00000377012.4_Silent_p.R168R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	285					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATGGGTGCGTTCGGAAGAAAG	0.562000													6	20					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165518	50165518	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:50165518C>T	ENST00000597198.1	-	6	1050	c.669G>A	c.(667-669)ccG>ccA	p.P223P	IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Silent_p.P223P|IRF3_ENST00000600911.1_Silent_p.P223P|IRF3_ENST00000593922.1_Silent_p.P77P|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000309877.7_Silent_p.P223P|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Silent_p.P77P|IRF3_ENST00000601291.1_Silent_p.P223P|IRF3_ENST00000598808.1_Silent_p.P77P			Q14653	IRF3_HUMAN	interferon regulatory factor 3	223	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCAGGCCCTCCGGGCAGGAGA	0.657000													4	30					0	0	1	0	0
RRAGD	58528	broad.mit.edu	37	6	90082246	90082246	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:90082246G>T	ENST00000369415.4	-	6	1237	c.961C>A	c.(961-963)Ctt>Att	p.L321I	RRAGD_ENST00000359203.2_Missense_Mutation_p.L170I	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	321					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GTATTATTAAGCTTTATGATG	0.398000											OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	30					4.3838e-07	4.59255e-07	1	1	0
DHCR24	1718	broad.mit.edu	37	1	55349397	55349397	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:55349397C>T	ENST00000371269.3	-	2	379	c.281G>A	c.(280-282)cGc>cAc	p.R94H	DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	94	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCAGCCAGGGCGCCCCGTGCA	0.562000													22	75					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812081	110812081	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:110812081C>T	ENST00000455511.3	-	11	1668	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCGTGGGACTCTCCTCCTTCT	0.577000													3	28					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:86370229C>T	ENST00000400286.2	-	2	1013	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	139						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363000													11	94					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	58					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36365172	36365172	+	Silent	SNP	C	C	T	rs148455535	by1000genomes	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:36365172C>T	ENST00000312412.4	-	4	422	c.423G>A	c.(421-423)acG>acA	p.T141T	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						TTAAGGTTCCCGTACCTGTGA	0.348000													4	26					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184920	130184920	+	Missense_Mutation	SNP	G	G	A	rs138159153	by1000genomes	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:130184920G>A	ENST00000422113.2	-	2	729	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	135						integral to membrane		p.R135R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537000													7	23					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33745738	33745738	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:33745738C>T	ENST00000539719.1	+	5	533	c.363C>T	c.(361-363)tcC>tcT	p.S121S	ZNF362_ENST00000373428.5_Silent_p.S121S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGGCTGTCCACCCGGACCC	0.687000													11	33					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33420177	33420177	+	Splice_Site	SNP	A	A	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:33420177A>G	ENST00000484457.1	+	13	986	c.894_splice	c.e13-1	p.I299_splice	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9_splice|FBXL2_ENST00000542085.1_Splice_Site_p.I9_splice|FBXL2_ENST00000538892.1_Splice_Site_p.I231_splice|FBXL2_ENST00000507198.1_Splice_Site_p.I231_splice|FBXL2_ENST00000538181.1_Splice_Site_p.I215_splice	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	299					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTCTCTCCAGATAACCGACAG	0.428000													13	29					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134894	27134894	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:27134894T>C	ENST00000343060.4	-	1	699	c.638A>G	c.(637-639)aAc>aGc	p.N213S	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	213						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGGAGGGTTTCTTTTGAC	0.488000													5	31					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380277	25380277	+	Missense_Mutation	SNP	G	G	T	rs121913238		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380277G>T	ENST00000311936.3	-	3	372	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61K(32)|p.Q61E(10)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTG	0.413000	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	24					2.17888e-05	2.22955e-05	1	1	0
ZNF467	168544	broad.mit.edu	37	7	149462027	149462027	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:149462027G>A	ENST00000302017.3	-	5	1977	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAAGCTGCGGGCGCAGACG	0.701000													5	18					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24416723	24416723	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:24416723G>C	ENST00000378386.3	+	7	911	c.818G>C	c.(817-819)tGg>tCg	p.W273S	MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	273					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTATCAAAATGGAGTGACCCA	0.318000													17	61					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762045	53762045	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:53762045C>T	ENST00000341702.3	+	1	501	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	139					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCTTGGTTATCCTATCTAAAA	0.383000													11	36					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180036	124180036	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr11:124180036C>T	ENST00000357821.2	-	1	697	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTAGGGTGGGCACCAAGGTGT	0.498000													5	32					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20148726	20148726	+	Splice_Site	SNP	C	C	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:20148726C>G	ENST00000379607.5	-	6	541		c.e6-1		EIF1AX_ENST00000379593.1_Splice_Site	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked							cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTGATTTTAGCTAAGGACACA	0.313000													7	32					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924016	153924016	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:153924016G>A	ENST00000368633.1	-	11	1251	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	375	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.S375F(1)		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)			GGCCAAGGAGGAGGCAGGCAG	0.642000													6	38					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383543	79383543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:79383543C>A	ENST00000370742.3	-	11	1717	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	552					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTATCCTAGTGCTGCC	0.358000													4	82					0.00024832	0.00024832	1	1	0
CYTH1	9267	broad.mit.edu	37	17	76697789	76697789	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:76697789T>A	ENST00000589297.1	-	6	916	c.224A>T	c.(223-225)cAt>cTt	p.H75L	CYTH1_ENST00000446868.3_Missense_Mutation_p.H134L|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L|CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	134	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGTGAACTCATGCAGCTCCAC	0.463000													6	83					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079134	10079134	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:10079134G>A	ENST00000264828.3	-	59	4326	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTTCTCCCGGGGGGCCAAT	0.592000													15	82					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595969	93595969	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:93595969G>T	ENST00000394236.3	-	14	2027	c.1711C>A	c.(1711-1713)Caa>Aaa	p.Q571K	PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	571	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGAGATTGTTGATCGGAACAT	0.373000													9	34					5.4927e-09	5.89461e-09	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	35					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046799	1046799	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:1046799C>T	ENST00000360803.4	+	7	919	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GTPBP4_ENST00000545048.1_Silent_p.F232F|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.F163F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	279					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GACCTCTCTTCATCAACAAGG	0.463000													6	75					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595248	7595248	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:7595248C>T	ENST00000264079.6	+	12	1561	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	479					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGTTCGCCGCCATGCAGGCG	0.602000													14	157					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380278	25380278	+	Silent	SNP	A	A	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380278A>T	ENST00000311936.3	-	3	371	c.180T>A	c.(178-180)ggT>ggA	p.G60G	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Silent_p.G60G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	60			G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61K(6)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACTCCTCTTGACCTGCTGTGT	0.413000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	22					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112868	112112868	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:112112868G>A	ENST00000403825.3	+	11	1479	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	406				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).	multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCCCAGTGATGCTTGATGCTG	0.353000													7	41					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	by1000genomes	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr21:11058248G>A	ENST00000470054.1	-	0	399									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433000													7	67					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													9	17	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													5	8	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-132)ccc>cGCCcc	p.43_44insR	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													3	6	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75554317	75554317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:75554317delC	ENST00000604729.1	+	14	3125	c.2828delC	c.(2827-2829)tcfs	p.S943fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs					zinc finger, SWIM-type containing 8																		CCCACAGGTTCCCGGCCCCCA	0.498													2	4	---	---	---	---					
GSTO2	119391	broad.mit.edu	37	10	106035045	106035045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:106035045delC	ENST00000450629.2	+	3	724	c.96delC	c.(94-96)tgfs	p.C32fs	GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000401888.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000338595.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000429569.2_Frame_Shift_Del_p.C4fs|GSTO2_ENST00000369707.1_Frame_Shift_Del_p.C4fs	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	32	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGAGGTTCTGCCCCTATTCTC	0.642											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	44	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307													2	4	---	---	---	---					
IGLV3-9	0	broad.mit.edu	37	22	23161844	23161845	+	RNA	DEL	CC	CC	-	rs72002333		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr22:23161844_23161845delCC	ENST00000390316.2	+	0	161																											TGCTCATGGTCCCCTGAGGACA	0.554													4	6	---	---	---	---					
