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
FRAS1	80144	broad.mit.edu	37	4	79462267	79462267	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:79462267A>C	ENST00000264895.6	+	74	12468	c.12028A>C	c.(12028-12030)Aca>Cca	p.T4010P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	4005					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAAGATGGAACAGAAGTTTA	0.353000													5	10					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	73002935	73002935	+	Silent	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr14:73002935C>T	ENST00000553530.1	+	16	1527	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R	RGS6_ENST00000343854.6_Silent_p.R403R|RGS6_ENST00000402788.2_Silent_p.R440R|RGS6_ENST00000404301.2_Silent_p.R440R|RGS6_ENST00000406236.4_Silent_p.R440R|RGS6_ENST00000556437.1_Silent_p.R440R|RGS6_ENST00000355512.6_Silent_p.R440R|RGS6_ENST00000554782.1_Silent_p.R301R|RGS6_ENST00000434263.2_Silent_p.R371R|RGS6_ENST00000407322.4_Silent_p.R440R|RGS6_ENST00000553525.1_Silent_p.R440R|RGS6_ENST00000555571.1_Silent_p.R440R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	440	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GCTATGCCCGCTTCCTCCGGT	0.512000													6	80					0	0	1	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493651	62493651	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr20:62493651C>T	ENST00000369916.3	+	1	1086	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	253							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						GGCTTCACGGCCACCTGGGCC	0.672000													4	24					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291231	5291231	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:5291231T>G	ENST00000357006.4	-	4	1314	c.976A>C	c.(976-978)Atc>Ctc	p.I326L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CCTGTGTGGATTTTTAGGTGT	0.453000													9	23					0	0	1	0	0
TMEM14A	28978	broad.mit.edu	37	6	52548949	52548949	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:52548949G>C	ENST00000211314.4	+	4	399	c.246G>C	c.(244-246)ttG>ttC	p.L82F		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	82						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTGCTGGTTTGGTTGCAGGTT	0.348000													5	30					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586601	15586601	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr19:15586601G>A	ENST00000292609.4	-	2	1009	c.880C>T	c.(880-882)Cca>Tca	p.P294S	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P294S			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	294					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGAGGGATGGCCGGGGCTCA	0.617000													3	35					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36030872	36030872	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36030872A>T	ENST00000373243.2	+	7	2181	c.1798A>T	c.(1798-1800)Atc>Ttc	p.I600F	NCDN_ENST00000356090.4_Missense_Mutation_p.I600F|NCDN_ENST00000373253.3_Missense_Mutation_p.I583F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	600					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGCAGCTGCCATCCTCTTCCT	0.627000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	117					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133331259	133331259	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:133331259A>G	ENST00000260810.5	-	24	4140	c.4009T>C	c.(4009-4011)Tgc>Cgc	p.C1337R		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1337	BRCT 7.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCAGTCCTGCAGGCTTCAAGG	0.493000								Other conserved DNA damage response genes					4	54					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388024	196388024	+	Missense_Mutation	SNP	G	G	A	rs139647726		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:196388024G>A	ENST00000328557.4	+	3	1713	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TGGGAGCCTCGCCCCACTCCA	0.587000													23	54					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52685222	52685222	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:52685222G>A	ENST00000327741.5	-	1	96	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	10	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGGCGCGCCCACCAAAT	0.657000													7	12					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612205	8612205	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612205T>G	ENST00000382073.3	+	3	320	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	45					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACTTACCATTTTACATATGGT	0.393000													16	77					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109810235	109810235	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:109810235T>C	ENST00000271332.3	+	16	6140	c.6079T>C	c.(6079-6081)Tcc>Ccc	p.S2027P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2027					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACTGCACGTCCATCACCTT	0.592000													10	45					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)		ACCACCACACTATGTCGAAAA	0.537000		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)			10	13					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752690	36752690	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36752690C>G	ENST00000354618.5	+	4	1083	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	287	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCTCAACTCTGCCGAGTGG	0.602000			T	USP6	aneurysmal bone cysts								14	72					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220371481	220371481	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:220371481G>C	ENST00000358215.3	+	13	1593	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	408					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCACACAAGGAGCTGAGCC	0.617000													8	20					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28499946	28499946	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:28499946G>A	ENST00000569430.1	-	6	1079	c.260C>T	c.(259-261)tCa>tTa	p.S87L	CLN3_ENST00000535392.1_Intron|CLN3_ENST00000360019.2_Missense_Mutation_p.S87L|CLN3_ENST00000395653.4_Missense_Mutation_p.H14Y|CLN3_ENST00000357806.7_Missense_Mutation_p.S87L|CLN3_ENST00000565316.1_Missense_Mutation_p.S87L|CLN3_ENST00000333496.9_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.S33L|CLN3_ENST00000357076.5_Missense_Mutation_p.S87L|CLN3_ENST00000359984.7_Missense_Mutation_p.S87L|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000355477.5_Missense_Mutation_p.S87L|CLN3_ENST00000567963.1_Missense_Mutation_p.S87L|CLN3_ENST00000354630.5_Missense_Mutation_p.S87L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	87					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AAATCGTGATGAGCTGTTGTG	0.577000													4	74					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30942332	30942332	+	Translation_Start_Site	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:30942332C>T	ENST00000406071.2	-	0	920				DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N|DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGAATTTCACTGGAAGCATT	0.438000													4	16					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612215	8612215	+	Silent	SNP	T	T	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612215T>G	ENST00000382073.3	+	3	330	c.144T>G	c.(142-144)ggT>ggG	p.G48G		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	48					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTACATATGGTGAAACTGGCA	0.378000													17	77					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								5	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			9	17					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505941	155505941	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:155505941C>A	ENST00000302053.3	-	6	2014	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGAAAATGCCACTTTGGGTA	0.373000													13	34					5.50884e-06	5.68099e-06	1	1	0
RNF17	56163	broad.mit.edu	37	13	25399793	25399793	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:25399793A>G	ENST00000255324.5	+	16	2180	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	710					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTAAAGACAATCGAGGAATT	0.333000													15	31					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453000													17	56					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													5	122					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153585626	153585626	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:153585626G>T	ENST00000369850.3	-	30	5198	c.4962C>A	c.(4960-4962)caC>caA	p.H1654Q	FLNA_ENST00000344736.4_Intron|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000360319.4_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1654					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCTAGCCCGTGACCTCCGA	0.637000													5	24					0.000602214	0.000602214	1	1	0
OTOS	150677	broad.mit.edu	37	2	241078762	241078762	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:241078762G>A	ENST00000391989.2	-	5	325	c.95C>T	c.(94-96)gCg>gTg	p.A32V	OTOS_ENST00000319460.1_Missense_Mutation_p.A32V			Q8NHW6	OTOSP_HUMAN	otospiralin	32						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGCAGCTCCGCGTAAGGGTC	0.602000													23	59					0	0	1	0	0
COG5	0	broad.mit.edu	37	7	107204377	107204377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr7:107204377delA	ENST00000393603.2	-	1	329	c.58delT	c.(58-60)ctfs	p.S20fs	COG5_ENST00000347053.3_Frame_Shift_Del_p.S20fs|COG5_ENST00000297135.3_Frame_Shift_Del_p.S20fs|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	20					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAGCAGCAGAACGGCTCCGC	0.706													8	14	---	---	---	---					
RP1-30E17.2	0	broad.mit.edu	37	X	127575151	127575151	+	RNA	DEL	G	G	-			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:127575151delG	ENST00000449485.1	-	0	158																											GCTGGGCAGAGGGAAGACAGC	0.572													2	4	---	---	---	---