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
MYO15A	51168	broad.mit.edu	37	17	18077153	18077153	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:18077153C>T	ENST00000205890.5	+	65	10747	c.10409C>T	c.(10408-10410)aCg>aTg	p.T3470M	RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.T734M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3470	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCGGCCCACGGCCAACTCC	0.662000													6	78					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16956467	16956467	+	RNA	SNP	A	A	T	rs1762950	by1000genomes	TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:16956467A>T	ENST00000412962.1	-	0	294																											gcaattttttaaatttttagt	0.567000													5	22					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96705526	96705526	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr13:96705526A>T	ENST00000376747.3	-	1	111	c.41T>A	c.(40-42)cTa>cAa	p.L14Q	UGGT2_ENST00000397618.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376714.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376712.4_Missense_Mutation_p.L14Q	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	14					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGGAGCCTAGTAGCAGCCG	0.687000													5	11					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622000													6	96					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042837	5042837	+	Missense_Mutation	SNP	C	C	T	rs61745111	byFrequency	TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:5042837C>T	ENST00000574788.1	+	22	3596	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	USP6_ENST00000250066.6_Missense_Mutation_p.R456W|USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000332776.4_Missense_Mutation_p.R456W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	456					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R456W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCAATGCCCCGGCTCCCAAC	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	72					0	0	1	0	0
DNAJC12	56521	broad.mit.edu	37	10	69556970	69556970	+	Splice_Site	SNP	T	T	C			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr10:69556970T>C	ENST00000225171.2	-	5	655		c.e5-2		DNAJC12_ENST00000483798.2_Splice_Site	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12						protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CTGCAAAACCTTTAAAGGAAA	0.378000													9	12					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	C	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	44					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916218	72916218	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:72916218C>T	ENST00000319642.1	-	2	895	c.713G>A	c.(712-714)cGc>cAc	p.R238H		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	238					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCGCTCTTGCGCCCATCCTC	0.687000													7	104					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													4	11					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867092	107867092	+	Silent	SNP	A	A	C			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:107867092A>C	ENST00000370067.1	+	3	1062	c.435A>C	c.(433-435)acA>acC	p.T145T	NTNG1_ENST00000370061.3_Silent_p.T145T|NTNG1_ENST00000370065.1_Silent_p.T145T|NTNG1_ENST00000370070.2_Silent_p.T145T|NTNG1_ENST00000370071.2_Silent_p.T145T|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Silent_p.T145T|NTNG1_ENST00000370072.3_Silent_p.T145T|NTNG1_ENST00000370074.4_Silent_p.T145T|NTNG1_ENST00000542803.1_Silent_p.T145T|NTNG1_ENST00000370068.1_Silent_p.T145T|NTNG1_ENST00000370073.2_Silent_p.T145T			Q9Y2I2	NTNG1_HUMAN	netrin G1	145	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTGAGCTAACAGACAACATAG	0.463000													29	51					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219366	18219366	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:18219366A>G	ENST00000406438.3	+	1	743	c.263A>G	c.(262-264)aAt>aGt	p.N88S		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	88								p.N88S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTGATCTCAATTACTTCTCC	0.507000													69	111					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	459978	459978	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr10:459978C>G	ENST00000280886.6	-	8	1019	c.932G>C	c.(931-933)gGc>gCc	p.G311A	DIP2C_ENST00000381496.3_Missense_Mutation_p.G204A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	311						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGACCACGCCCAGCTGCTC	0.627000													27	76					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	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				17	28					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr11:49208318C>T	ENST00000340334.7	-	6	840	c.472G>A	c.(472-474)Gat>Aat	p.D158N	FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000													14	32					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81503376	81503376	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr12:81503376G>A	ENST00000548058.1	+	2	1259	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ACSS3_ENST00000261206.3_Missense_Mutation_p.V116I|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	117						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTACAATGCCGTTGATCGTCA	0.323000													3	26					0	0	1	0	0
CCDC74B-AS1	0	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1																						gactccatctcaaaaaaaaaaa	0.564													2	4	---	---	---	---					
PCDHGB4	0	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133895206	133895207	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr8:133895206_133895207insG	ENST00000220616.4	+	8	1077_1078	c.1037_1038insG	c.(1036-1038)acafs	p.T346fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.T346fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	346	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAAGGAAATGCATGGAACCC	0.614													20	26	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													7	216	---	---	---	---					
RP11-697E22.2	0	broad.mit.edu	37	17	36003614	36003614	+	RNA	DEL	T	T	-	rs10543338		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:36003614delT	ENST00000586163.1	+	0	590				RP11-697E22.2_ENST00000586950.1_RNA																							ATTAtttatcttttttttttt	0.507													2	4	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													8	122	---	---	---	---					
