#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
ADARB2	105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	1779285	1779285	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr10:1779285G>C	ENST00000381312.1	-	1	385	c.60C>G	c.(58-60)tgC>tgG	p.C20W		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	20					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTTGGACTTGCATTTGAGTT	0.701																																																0													85.0	76.0	79.0					10																	1779285		2203	4300	6503	SO:0001583	missense	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.60C>G	10.37:g.1779285G>C	ENSP00000370713:p.Cys20Trp		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167396	0.57476	.	.	ENSG00000185736	ENST00000381312	T	0.24151	1.87	4.71	3.78	0.43462	.	0.806905	0.10788	N	0.634104	T	0.24353	0.0590	N	0.22421	0.69	0.80722	D	1	D	0.58620	0.983	P	0.46975	0.533	T	0.10800	-1.0614	10	0.87932	D	0	-27.7107	13.0996	0.59212	0.0809:0.0:0.9191:0.0	.	20	Q9NS39	RED2_HUMAN	W	20	ENSP00000370713:C20W	ENSP00000370713:C20W	C	-	3	2	ADARB2	1769285	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.849000	0.55910	2.434000	0.82447	0.462000	0.41574	TGC		0.701	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		55	328	55	328
SLC17A6	57084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	22360149	22360149	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:22360149C>G	ENST00000263160.3	+	1	507	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V	CTD-2140G10.2_ENST00000531304.1_RNA|CTD-2140G10.2_ENST00000530569.1_RNA|CTD-2140G10.2_ENST00000528009.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	24					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAAAATCACTCGGCCAGAT	0.473																																																0													62.0	66.0	65.0					11																	22360149		2203	4300	6503	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.70C>G	11.37:g.22360149C>G	ENSP00000263160:p.Leu24Val		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134009	0.56828	.	.	ENSG00000091664	ENST00000263160	T	0.67523	-0.27	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.72118	2.19	0.80722	D	1	P	0.41748	0.761	B	0.37267	0.245	T	0.69591	-0.5104	10	0.37606	T	0.19	.	18.9139	0.92496	0.0:1.0:0.0:0.0	.	24	Q9P2U8	VGLU2_HUMAN	V	24	ENSP00000263160:L24V	ENSP00000263160:L24V	L	+	1	0	SLC17A6	22316725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.603000	0.61105	2.465000	0.83290	0.655000	0.94253	CTC		0.473	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		9	31	9	31
OR5D14	219436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	rs145440752	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:55563737C>T	ENST00000335605.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463													c|||	5	0.000998403	0.003	0.0014	5008	,	,		18723	0.0		0.0	False		,,,				2504	0.0															0								C	CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	131.0	122.0	125.0		706	0.6	0.0	11	dbSNP_134	125	12,8580	8.4+/-32.0	0,12,4284	yes	missense	OR5D14	NM_001004735.1	180	0,14,6482	TT,TC,CC		0.1397,0.0455,0.1078	benign	236/315	55563737	14,12978	2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.706C>T	11.37:g.55563737C>T	ENSP00000334456:p.Arg236Cys		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	4.361	0.066473	0.08388	4.55E-4	0.001397	ENSG00000186113	ENST00000335605	T	0.00337	8.05	5.08	0.556	0.17253	GPCR, rhodopsin-like superfamily (1);	0.172823	0.25774	N	0.028382	T	0.00271	0.0008	M	0.90759	3.145	0.09310	N	1	B	0.26512	0.151	B	0.29524	0.103	T	0.43702	-0.9375	10	0.66056	D	0.02	-3.9031	4.8553	0.13555	0.4904:0.3237:0.0:0.1859	.	236	Q8NGL3	OR5DE_HUMAN	C	236	ENSP00000334456:R236C	ENSP00000334456:R236C	R	+	1	0	OR5D14	55320313	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.501000	0.06398	0.180000	0.19960	-0.195000	0.12781	CGC		0.463	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		35	63	35	63
MMP20	9313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	102465488	102465488	+	Splice_Site	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:102465488C>G	ENST00000260228.2	-	7	966	c.954G>C	c.(952-954)cgG>cgC	p.R318R	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	337					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TCCAGAAAATCCTATGGGACA	0.418																																																0													51.0	49.0	50.0					11																	102465488		2203	4299	6502	SO:0001630	splice_region_variant	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.954-1G>C	11.37:g.102465488C>G			D3DUA8|Q9H3Q0	Splice_Site	SNP	ENST00000260228.2	37	CCDS8318.1																																																																																				0.418	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		Silent	16	24	16	24
MDM2	4193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	69230521	69230521	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:69230521T>C	ENST00000350057.5	+	8	817	c.817T>C	c.(817-819)Tcc>Ccc	p.S273P	MDM2_ENST00000428863.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Missense_Mutation_p.S128P|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S304P|MDM2_ENST00000258148.7_Missense_Mutation_p.S249P|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.S103P|MDM2_ENST00000299252.4_Missense_Mutation_p.S128P|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S243P|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S103P|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	298	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCTGAAATTTCCTTAGCTGT	0.308			A		"""sarcoma, glioma, colorectal, other"""																																		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	0													147.0	137.0	140.0					12																	69230521		1822	4076	5898	SO:0001583	missense	4193				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.817T>C	12.37:g.69230521T>C	ENSP00000266624:p.Ser273Pro		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	T	18.13	3.555438	0.65425	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000311440;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000393415;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.73	4.73	0.59995	.	0.049680	0.85682	D	0.000000	T	0.51787	0.1695	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.991;1.0	D;D;D;P;D	0.87578	0.982;0.996;0.974;0.862;0.998	T	0.50939	-0.8768	9	.	.	.	-9.6477	14.5296	0.67915	0.0:0.0:0.0:1.0	.	253;298;249;103;304	Q00987-9;Q00987;G3XA89;Q00987-2;Q00987-11	.;MDM2_HUMAN;.;.;.	P	304;253;243;128;103;251;128;259;249;251;128;273;128;103	ENSP00000417281:S304P;ENSP00000258149:S243P;ENSP00000348637:S128P;ENSP00000440932:S103P;ENSP00000258148:S249P;ENSP00000266624:S273P;ENSP00000299252:S128P;ENSP00000353611:S103P	.	S	+	1	0	MDM2	67516788	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	4.226000	0.58606	1.909000	0.55274	0.533000	0.62120	TCC		0.308	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		28	52	28	52
GALC	2581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	88454494	88454494	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:88454494T>A	ENST00000261304.2	-	3	428	c.322A>T	c.(322-324)Aca>Tca	p.T108S	GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Missense_Mutation_p.T85S|GALC_ENST00000544807.2_Missense_Mutation_p.T52S|GALC_ENST00000393569.2_Missense_Mutation_p.T82S	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	108					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTGTTGTCTGCCCATCA	0.358																																																0													102.0	91.0	95.0					14																	88454494		1858	4087	5945	SO:0001583	missense	2581			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.322A>T	14.37:g.88454494T>A	ENSP00000261304:p.Thr108Ser		B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	5.302	0.241091	0.10077	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000393568;ENST00000445021	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.69	4.53	0.55603	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.206543	0.48767	N	0.000163	D	0.84347	0.5452	N	0.20483	0.58	0.42002	D	0.990895	B;B;B;B;B	0.09022	0.002;0.001;0.002;0.001;0.0	B;B;B;B;B	0.14578	0.004;0.011;0.003;0.002;0.003	T	0.74816	-0.3536	10	0.02654	T	1	-15.2033	9.8653	0.41140	0.2719:0.0:0.0:0.7281	.	52;85;82;108;108	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	S	108;52;82;85;108	ENSP00000261304:T108S;ENSP00000437513:T52S;ENSP00000377199:T82S;ENSP00000377198:T85S	ENSP00000261304:T108S	T	-	1	0	GALC	87524247	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.351000	0.59398	0.967000	0.38186	0.477000	0.44152	ACA		0.358	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			18	41	18	41
LIPC	3990	hgsc.bcm.edu;broad.mit.edu	37	15	58855814	58855814	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:58855814C>T	ENST00000356113.6	+	10	1895	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	LIPC_ENST00000414170.3_Missense_Mutation_p.A427V|LIPC_ENST00000433326.2_Missense_Mutation_p.A366V|LIPC_ENST00000299022.5_Missense_Mutation_p.A427V			P11150	LIPC_HUMAN	lipase, hepatic	427	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGTGTGGGCCAATGTCTGG	0.507																																																0													124.0	99.0	108.0					15																	58855814		2192	4292	6484	SO:0001583	missense	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1280C>T	15.37:g.58855814C>T	ENSP00000348425:p.Ala427Val		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333357	0.41297	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;T;T;T	0.70749	0.99;-0.51;0.99;0.99	5.9	4.02	0.46733	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.720288	0.14417	N	0.320899	T	0.63663	0.2530	L	0.47716	1.5	0.34004	D	0.650685	B;P	0.41673	0.407;0.759	B;B	0.43575	0.222;0.424	T	0.66748	-0.5845	10	0.33940	T	0.23	.	5.8294	0.18572	0.3066:0.517:0.1099:0.0664	.	366;427	E7EUK6;P11150	.;LIPC_HUMAN	V	427;427;427;366	ENSP00000348425:A427V;ENSP00000395569:A427V;ENSP00000299022:A427V;ENSP00000395002:A366V	ENSP00000299022:A427V	A	+	2	0	LIPC	56643106	0.999000	0.42202	0.978000	0.43139	0.299000	0.27559	1.356000	0.34079	0.826000	0.34661	0.563000	0.77884	GCC		0.507	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			7	95	7	95
LINS	55180	hgsc.bcm.edu;broad.mit.edu	37	15	101109585	101109585	+	Missense_Mutation	SNP	C	C	G	rs148450316		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:101109585C>G	ENST00000314742.8	-	7	2354	c.2132G>C	c.(2131-2133)aGa>aCa	p.R711T	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	711										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTTTACTATTCTGTAAAATAT	0.383																																																0													108.0	117.0	114.0					15																	101109585		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2132G>C	15.37:g.101109585C>G	ENSP00000318423:p.Arg711Thr		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.261865	0.23051	.	.	ENSG00000140471	ENST00000314742	T	0.13196	2.61	5.9	1.49	0.22878	.	0.213651	0.37906	N	0.001899	T	0.18130	0.0435	L	0.47716	1.5	0.09310	N	1	D	0.63046	0.992	P	0.55923	0.787	T	0.06463	-1.0825	10	0.56958	D	0.05	-4.9475	4.66	0.12637	0.0:0.4251:0.1634:0.4115	.	711	Q8NG48	LINES_HUMAN	T	711	ENSP00000318423:R711T	ENSP00000318423:R711T	R	-	2	0	LINS	98927108	0.936000	0.31750	0.000000	0.03702	0.042000	0.13812	0.358000	0.20216	0.128000	0.18479	-1.273000	0.01405	AGA		0.383	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		6	100	6	100
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	89351668	89351668	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:89351668G>C	ENST00000301030.4	-	9	1742	c.1282C>G	c.(1282-1284)Ctc>Gtc	p.L428V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L428V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	428					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGCCGAGAGTCTCAGCTTC	0.488																																																0													87.0	77.0	80.0					16																	89351668		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1282C>G	16.37:g.89351668G>C	ENSP00000301030:p.Leu428Val		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031612	0.08101	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38560	1.13;1.13	5.47	5.47	0.80525	.	0.139267	0.50627	D	0.000103	T	0.52677	0.1749	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.996;0.987	P;P	0.57911	0.829;0.772	T	0.48293	-0.9048	10	0.02654	T	1	.	19.3185	0.94226	0.0:0.0:1.0:0.0	.	47;428	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	V	428;428;47	ENSP00000301030:L428V;ENSP00000367581:L428V	ENSP00000301030:L428V	L	-	1	0	ANKRD11	87879169	0.988000	0.35896	0.973000	0.42090	0.157000	0.22087	1.978000	0.40598	2.575000	0.86900	0.563000	0.77884	CTC		0.488	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		11	147	11	147
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578203C>A	ENST00000269305.4	-	6	835	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000420246.2_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	Acetylsalicylic acid(DB00945)	GGCACCACCACACTATGTCGA	0.537		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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	GRCh37	CX952222	TP53	X							123.0	111.0	115.0					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.646G>T	17.37:g.7578203C>A	ENSP00000269305:p.Val216Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221273	0.95139	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	M	0.79926	2.475	0.80722	D	1	D;D;P;D;D;D;D	0.89917	0.999;0.996;0.539;0.999;0.997;0.997;1.0	D;D;P;D;D;D;D	0.91635	0.997;0.999;0.574;0.998;0.999;0.998;0.996	D	0.96590	0.9437	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216L;ENSP00000352610:V216L;ENSP00000269305:V216L;ENSP00000398846:V216L;ENSP00000391127:V216L;ENSP00000391478:V216L;ENSP00000425104:V84L;ENSP00000423862:V123L	ENSP00000269305:V216L	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	33	28	33
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578265A>T	ENST00000269305.4	-	6	773	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000420246.2_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)											100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>A	17.37:g.7578265A>T	ENSP00000269305:p.Ile195Asn		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474490	0.43942	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.996;0.998;0.998;0.998	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195N;ENSP00000352610:I195N;ENSP00000269305:I195N;ENSP00000398846:I195N;ENSP00000391127:I195N;ENSP00000391478:I195N;ENSP00000425104:I63N;ENSP00000423862:I102N	ENSP00000269305:I195N	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	56	38	56
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	28409944	28409944	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:28409944C>T	ENST00000394835.3	+	18	3654	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.Y1030Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1154							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTATCACTACGTCCACAGCC	0.398																																																0													166.0	147.0	153.0					17																	28409944		2011	4182	6193	SO:0001819	synonymous_variant	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3462C>T	17.37:g.28409944C>T			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																				0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		34	206	34	206
CCL11	6356	hgsc.bcm.edu;broad.mit.edu	37	17	32612839	32612839	+	Silent	SNP	C	C	T	rs185980467	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:32612839C>T	ENST00000305869.3	+	1	153	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	4					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597													C|||	15	0.00299521	0.0	0.0	5008	,	,		18221	0.0149		0.0	False		,,,				2504	0.0															0								C		1,4405	2.1+/-5.4	0,1,2202	179.0	166.0	170.0		12	-6.3	0.0	17		170	0,8600		0,0,4300	no	coding-synonymous	CCL11	NM_002986.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		4/98	32612839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6356			AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.12C>T	17.37:g.32612839C>T			P50877|Q92490|Q92491	Silent	SNP	ENST00000305869.3	37	CCDS11279.1																																																																																				0.597	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		14	248	14	248
LAMA1	284217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	7023260	7023260	+	Silent	SNP	C	C	A	rs200170562	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:7023260C>A	ENST00000389658.3	-	19	2697	c.2604G>T	c.(2602-2604)ggG>ggT	p.G868G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	868	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G868G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCAGGCACTCCCCGGTGACTG	0.602																																																1	Substitution - coding silent(1)	urinary_tract(1)											95.0	75.0	82.0					18																	7023260		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2604G>T	18.37:g.7023260C>A				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.602	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		34	43	34	43
STARD6	147323	hgsc.bcm.edu;broad.mit.edu	37	18	51858176	51858176	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:51858176G>A	ENST00000581310.1	-	7	694	c.321C>T	c.(319-321)tcC>tcT	p.S107S	STARD6_ENST00000307844.3_Silent_p.S107S|STARD6_ENST00000580990.2_Missense_Mutation_p.P15S			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	107	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368																																																0													117.0	108.0	111.0					18																	51858176		2203	4300	6503	SO:0001819	synonymous_variant	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.321C>T	18.37:g.51858176G>A				Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1																																																																																				0.368	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		4	70	4	70
TSHZ1	10194	hgsc.bcm.edu;broad.mit.edu	37	18	72999933	72999933	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:72999933G>A	ENST00000580243.1	+	2	2919	c.2571G>A	c.(2569-2571)acG>acA	p.T857T	TSHZ1_ENST00000322038.5_Silent_p.T812T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	857					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGTCCTCCACGCCCTCCACAG	0.602																																																0													65.0	59.0	61.0					18																	72999933		2203	4300	6503	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2571G>A	18.37:g.72999933G>A			O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																					0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		4	63	4	63
CSNK1G2	1455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	1979554	1979554	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:1979554A>G	ENST00000255641.8	+	9	1409	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCCGACTATGACTACCTG	0.652																																					Ovarian(91;880 1392 21236 36928 37598)											0													49.0	57.0	54.0					19																	1979554		2203	4300	6503	SO:0001583	missense	1455			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.914A>G	19.37:g.1979554A>G	ENSP00000255641:p.Tyr305Cys		B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721360	0.68959	.	.	ENSG00000133275	ENST00000255641;ENST00000313975	T	0.10382	2.88	5.16	4.15	0.48705	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.47021	0.1423	H	0.98559	4.265	0.53005	D	0.99996	D;D	0.89917	1.0;0.958	D;D	0.97110	1.0;0.93	T	0.58440	-0.7636	10	0.87932	D	0	.	9.0534	0.36389	0.9108:0.0:0.0892:0.0	.	87;305	Q9H4N7;P78368	.;KC1G2_HUMAN	C	305;87	ENSP00000255641:Y305C	ENSP00000255641:Y305C	Y	+	2	0	CSNK1G2	1930554	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	8.901000	0.92560	0.799000	0.34018	0.379000	0.24179	TAT		0.652	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		42	52	42	52
ICAM1	3383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10394873	10394873	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:10394873G>A	ENST00000264832.3	+	4	1127	c.802G>A	c.(802-804)Gac>Aac	p.D268N	ICAM1_ENST00000423829.2_Missense_Mutation_p.D46N|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	268	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CTATGGCAACGACTCCTTCTC	0.632																																																0													81.0	61.0	68.0					19																	10394873		2203	4300	6503	SO:0001583	missense	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.802G>A	19.37:g.10394873G>A	ENSP00000264832:p.Asp268Asn		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576702	0.28092	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.03831	3.79;3.79	4.32	2.1	0.27182	Immunoglobulin-like fold (1);	0.947063	0.08762	N	0.897545	T	0.07863	0.0197	L	0.60845	1.875	0.09310	N	1	B;P	0.39480	0.335;0.675	B;B	0.41135	0.038;0.348	T	0.35475	-0.9787	10	0.39692	T	0.17	-28.0685	7.9338	0.29918	0.094:0.0:0.7468:0.1592	.	46;268	E7ESS4;P05362	.;ICAM1_HUMAN	N	268;46	ENSP00000264832:D268N;ENSP00000413124:D46N	ENSP00000264832:D268N	D	+	1	0	ICAM1	10255873	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.428000	0.21395	0.204000	0.20548	-1.478000	0.00992	GAC		0.632	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			30	50	30	50
AKAP8	10270	hgsc.bcm.edu;broad.mit.edu	37	19	15472624	15472624	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:15472624C>G	ENST00000269701.2	-	11	1372	c.1312G>C	c.(1312-1314)Gta>Cta	p.V438L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	438					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCTGTTTACAATGTATTCC	0.458																																					GBM(190;1671 2163 3274 27186 30476)											0													102.0	95.0	97.0					19																	15472624		2203	4300	6503	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1312G>C	19.37:g.15472624C>G	ENSP00000269701:p.Val438Leu			Missense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	5.151	0.213368	0.09757	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.44881	0.91	5.82	2.53	0.30540	.	0.241387	0.28927	N	0.013687	T	0.31199	0.0789	L	0.43923	1.385	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.18871	0.023;0.023	T	0.19289	-1.0310	10	0.25106	T	0.35	-12.423	8.4016	0.32590	0.0:0.6866:0.0:0.3134	.	438;438	Q8NE02;O43823	.;AKAP8_HUMAN	L	438;187	ENSP00000269701:V438L	ENSP00000269701:V438L	V	-	1	0	AKAP8	15333624	0.014000	0.17966	0.008000	0.14137	0.107000	0.19398	0.017000	0.13399	0.362000	0.24319	0.557000	0.71058	GTA		0.458	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		3	34	3	34
ADCK4	79934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	41197999	41197999	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:41197999C>G	ENST00000324464.3	-	15	1877	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.D485H|NUMBL_ENST00000252891.4_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.D485H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	526						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTGGCTGCGTCTGGCTGGCGA	0.672																																																0													21.0	23.0	22.0					19																	41197999		2201	4298	6499	SO:0001583	missense	79934			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1576G>C	19.37:g.41197999C>G	ENSP00000315118:p.Asp526His		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146435	0.37923	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.74737	-0.87;-0.46;-0.46	0.235	0.235	0.15431	.	1.017380	0.07866	N	0.967044	T	0.50480	0.1618	N	0.08118	0	0.09310	N	0.99999	B;P	0.38711	0.289;0.643	B;B	0.34873	0.065;0.191	T	0.43163	-0.9408	9	0.45353	T	0.12	.	.	.	.	.	526;485	Q96D53;Q96D53-2	ADCK4_HUMAN;.	H	526;485;485	ENSP00000315118:D526H;ENSP00000412839:D485H;ENSP00000243583:D485H	ENSP00000243583:D485H	D	-	1	0	ADCK4	45889839	0.317000	0.24589	0.582000	0.28627	0.843000	0.47879	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAC		0.672	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		18	25	18	25
ZNF460	10794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	57802257	57802257	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:57802257G>C	ENST00000360338.3	+	3	670	c.348G>C	c.(346-348)gaG>gaC	p.E116D	ZNF460_ENST00000537645.1_Missense_Mutation_p.E75D	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGAGTGAGAAACTCCATG	0.473																																																0													104.0	105.0	105.0					19																	57802257		2203	4300	6503	SO:0001583	missense	10794			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.348G>C	19.37:g.57802257G>C	ENSP00000353491:p.Glu116Asp		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862974	0.17178	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.27104	1.69;1.69	2.21	-0.211	0.13172	.	.	.	.	.	T	0.14700	0.0355	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.30179	-0.9987	9	0.25106	T	0.35	.	4.5821	0.12264	0.1489:0.448:0.403:0.0	.	116	Q14592	ZN460_HUMAN	D	75;116	ENSP00000446167:E75D;ENSP00000353491:E116D	ENSP00000353491:E116D	E	+	3	2	ZNF460	62494069	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.457000	0.06745	-0.113000	0.11958	-0.142000	0.14014	GAG		0.473	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		38	65	38	65
TCHH	7062	hgsc.bcm.edu;broad.mit.edu	37	1	152084077	152084077	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:152084077C>G	ENST00000368804.1	-	2	1615	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	539	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGCGTCTTAGTTGTTG	0.652																																																0													83.0	90.0	88.0					1																	152084077		2027	4192	6219	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1616G>C	1.37:g.152084077C>G	ENSP00000357794:p.Arg539Thr		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	4.176	0.031322	0.08101	.	.	ENSG00000159450	ENST00000368804	T	0.07114	3.22	2.01	0.998	0.19857	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	P	0.38827	0.649	B	0.38655	0.278	T	0.47058	-0.9146	9	0.33940	T	0.23	.	9.0295	0.36249	0.0:0.848:0.0:0.152	.	539	Q07283	TRHY_HUMAN	T	539	ENSP00000357794:R539T	ENSP00000357794:R539T	R	-	2	0	TCHH	150350701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.118000	0.10692	-0.451000	0.07097	-1.137000	0.01932	AGA		0.652	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		17	290	17	290
LAMC1	3915	hgsc.bcm.edu;broad.mit.edu	37	1	183086809	183086809	+	Missense_Mutation	SNP	G	G	A	rs570894922		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:183086809G>A	ENST00000258341.4	+	10	2085	c.1828G>A	c.(1828-1830)Gct>Act	p.A610T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	610	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACCCTTGATCGCTCAGGGCAA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21008	0.0		0.0	False		,,,				2504	0.0															0													119.0	110.0	113.0					1																	183086809		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1828G>A	1.37:g.183086809G>A	ENSP00000258341:p.Ala610Thr		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345484	0.95807	.	.	ENSG00000135862	ENST00000258341	T	0.38722	1.12	5.29	5.29	0.74685	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.66118	-0.6003	10	0.66056	D	0.02	.	18.9393	0.92598	0.0:0.0:1.0:0.0	.	610	P11047	LAMC1_HUMAN	T	610	ENSP00000258341:A610T	ENSP00000258341:A610T	A	+	1	0	LAMC1	181353432	1.000000	0.71417	0.905000	0.35620	0.940000	0.58332	9.111000	0.94308	2.463000	0.83235	0.655000	0.94253	GCT		0.483	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		5	91	5	91
MIA3	375056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	222803484	222803484	+	Silent	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:222803484C>G	ENST00000344922.5	+	4	2947	c.2922C>G	c.(2920-2922)gtC>gtG	p.V974V	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.V974V	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	974					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGTCCTAGATAAGG	0.428																																																0													76.0	74.0	75.0					1																	222803484		1964	4164	6128	SO:0001819	synonymous_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2922C>G	1.37:g.222803484C>G			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	2.349	-0.349406	0.05173	.	.	ENSG00000154305	ENST00000354906	.	.	.	5.25	0.83	0.18854	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	.	1.3844	0.02237	0.1598:0.3261:0.3124:0.2016	.	.	.	.	A	557	.	.	P	+	1	0	MIA3	220870107	0.771000	0.28555	0.162000	0.22713	0.272000	0.26649	-0.171000	0.09883	0.277000	0.22141	0.462000	0.41574	CCT		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		21	28	21	28
MYH7B	57644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	33567544	33567544	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33567544G>A	ENST00000262873.7	+	5	497	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	93	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGATGACGCACCTGAACG	0.637																																																0													71.0	72.0	71.0					20																	33567544		2177	4286	6463	SO:0001819	synonymous_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.405G>A	20.37:g.33567544G>A			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																				0.637	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		54	90	54	90
KCNB1	3745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	48098819	48098819	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:48098819C>G	ENST00000371741.4	-	1	365	c.199G>C	c.(199-201)Gac>Cac	p.D67H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	67					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGCAGCGAGTCGTGCGTGTTG	0.662																																																0													24.0	21.0	22.0					20																	48098819		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.199G>C	20.37:g.48098819C>G	ENSP00000360806:p.Asp67His		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935886	0.92458	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96554	-4.05	5.13	5.13	0.70059	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.404899	0.28989	N	0.013494	D	0.97368	0.9139	L	0.54323	1.7	0.80722	D	1	D	0.54207	0.965	D	0.66196	0.942	D	0.98005	1.0362	10	0.87932	D	0	.	18.3895	0.90477	0.0:1.0:0.0:0.0	.	67	Q14721	KCNB1_HUMAN	H	67;22	ENSP00000360806:D67H	ENSP00000360806:D67H	D	-	1	0	KCNB1	47532226	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.627000	0.83176	2.678000	0.91216	0.563000	0.77884	GAC		0.662	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	51	7	51
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	21228306	21228306	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:21228306C>G	ENST00000233242.1	-	26	11561	c.11434G>C	c.(11434-11436)Gag>Cag	p.E3812Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3812					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGTTATCTCAAAAAAGGGA	0.423																																																0			GRCh37	CI076929	APOB	I							159.0	158.0	158.0					2																	21228306		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11434G>C	2.37:g.21228306C>G	ENSP00000233242:p.Glu3812Gln		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800550	0.70567	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00840	5.63	5.77	4.88	0.63580	.	0.101492	0.42821	D	0.000649	T	0.05090	0.0136	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.09292	-1.0681	10	0.72032	D	0.01	.	15.09	0.72185	0.0:0.9312:0.0:0.0688	.	3812	P04114	APOB_HUMAN	Q	3812	ENSP00000233242:E3812Q	ENSP00000233242:E3812Q	E	-	1	0	APOB	21081811	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.270000	0.33086	2.723000	0.93209	0.655000	0.94253	GAG		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			77	91	77	91
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	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). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|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). {ECO:0000269|PubMed:18772396}.|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). {ECO:0000269|PubMed:19117336}.|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). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	50	32	50
VHL	7428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	10191622	10191622	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:10191622C>T	ENST00000256474.2	+	3	1455	c.615C>T	c.(613-615)cgC>cgT	p.R205R	VHL_ENST00000345392.2_Silent_p.R164R|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	205					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I206fs*10(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATC	0.468		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	2	Complex - frameshift(1)|Insertion - Frameshift(1)	kidney(2)											65.0	56.0	59.0					3																	10191622		2203	4300	6503	SO:0001819	synonymous_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.615C>T	3.37:g.10191622C>T			B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.468	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		16	19	16	19
MED23	9439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	131929091	131929091	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr6:131929091C>T	ENST00000368068.3	-	12	1377	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	MED23_ENST00000368060.3_Missense_Mutation_p.D400N|MED23_ENST00000354577.4_Missense_Mutation_p.D406N|MED23_ENST00000540546.1_Missense_Mutation_p.D406N|MED23_ENST00000545957.1_Intron|MED23_ENST00000403834.3_Missense_Mutation_p.D406N|MED23_ENST00000368058.1_Missense_Mutation_p.D406N|MED23_ENST00000368053.4_Missense_Mutation_p.D406N|MED23_ENST00000539158.1_Missense_Mutation_p.D400N	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	400					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATAGCAAGTCGAAGAGCTTC	0.343																																																0													91.0	90.0	90.0					6																	131929091		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1198G>A	6.37:g.131929091C>T	ENSP00000357047:p.Asp400Asn		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952962	0.92660	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.972	D;P;B	0.74023	0.982;0.784;0.444	T	0.68161	-0.5482	10	0.13108	T	0.6	-0.7632	20.6721	0.99693	0.0:1.0:0.0:0.0	.	406;400;406	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	N	406;400;406;400;406;406;406;400	ENSP00000346588:D406N;ENSP00000357047:D400N;ENSP00000384536:D406N;ENSP00000357039:D400N;ENSP00000357037:D406N;ENSP00000357032:D406N;ENSP00000437818:D406N;ENSP00000445072:D400N	ENSP00000346588:D406N	D	-	1	0	MED23	131970784	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAC		0.343	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			17	23	17	23
RBAK	57786	hgsc.bcm.edu;ucsc.edu	37	7	5104674	5104674	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:5104674C>G	ENST00000353796.3	+	6	1911	c.1587C>G	c.(1585-1587)caC>caG	p.H529Q	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.H529Q	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	529	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCGATGGGCACCAGCCACTTC	0.383																																																0													62.0	63.0	63.0					7																	5104674		2202	4300	6502	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1587C>G	7.37:g.5104674C>G	ENSP00000275423:p.His529Gln		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	C	3.712	-0.059273	0.07317	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.35048	1.33;1.33	3.49	-0.0469	0.13845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.611513	0.14713	N	0.302819	T	0.38188	0.1031	M	0.90252	3.1	0.34292	D	0.683391	B	0.27286	0.174	B	0.19666	0.026	T	0.36890	-0.9729	8	.	.	.	.	4.3871	0.11321	0.3657:0.4968:0.0:0.1375	.	529	Q9NYW8	RBAK_HUMAN	Q	529	ENSP00000275423:H529Q;ENSP00000380120:H529Q	.	H	+	3	2	RBAK	5071200	0.018000	0.18449	0.042000	0.18584	0.154000	0.21943	0.174000	0.16743	-0.014000	0.14175	0.555000	0.69702	CAC		0.383	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		22	61	22	61
HEPACAM2	253012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	92838050	92838050	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:92838050C>G	ENST00000394468.2	-	4	932	c.855G>C	c.(853-855)agG>agC	p.R285S	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R308S|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R273S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R273S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	285	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TATTGTCAGTCCTCCTAATCC	0.443																																																0													151.0	141.0	144.0					7																	92838050		2203	4300	6503	SO:0001583	missense	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.855G>C	7.37:g.92838050C>G	ENSP00000377980:p.Arg285Ser		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965275	0.34659	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.05	1.71	0.24356	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232673	0.50627	D	0.000109	T	0.65112	0.2660	L	0.27053	0.805	0.34734	D	0.730027	B;B;B;B	0.30146	0.237;0.27;0.053;0.102	B;B;B;B	0.37731	0.257;0.136;0.119;0.073	T	0.62718	-0.6795	10	0.38643	T	0.18	-3.6401	6.3966	0.21616	0.0:0.6159:0.1279:0.2562	.	308;273;285;273	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	S	285;273;273;308	ENSP00000377980:R285S;ENSP00000340532:R273S;ENSP00000389592:R273S;ENSP00000390204:R308S	ENSP00000340532:R273S	R	-	3	2	HEPACAM2	92675986	0.993000	0.37304	0.109000	0.21407	0.864000	0.49448	0.577000	0.23758	0.189000	0.20188	0.655000	0.94253	AGG		0.443	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		32	24	32	24
KIAA1429	25962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	95530133	95530133	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr8:95530133C>T	ENST00000297591.5	-	10	2626	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	KIAA1429_ENST00000421249.2_Missense_Mutation_p.A851T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.A851T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	851					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTATGCATGCGTAATTATAA	0.318																																																0													107.0	91.0	96.0					8																	95530133		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2551G>A	8.37:g.95530133C>T	ENSP00000297591:p.Ala851Thr		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370325	0.95900	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.71579	-0.58;-0.58;-0.58	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.81219	-0.1032	10	0.72032	D	0.01	-14.8842	19.0493	0.93036	0.0:1.0:0.0:0.0	.	851;851	Q69YN4-4;Q69YN4	.;VIR_HUMAN	T	851	ENSP00000297591:A851T;ENSP00000395600:A851T;ENSP00000398390:A851T	ENSP00000297591:A851T	A	-	1	0	KIAA1429	95599309	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.625000	0.83145	2.490000	0.84030	0.655000	0.94253	GCA		0.318	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		12	16	12	16
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	113139603	113139603	+	Silent	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:113139603G>C	ENST00000401783.2	-	45	10788	c.10452C>G	c.(10450-10452)cgC>cgG	p.R3484R	SVEP1_ENST00000374469.1_Silent_p.R3461R|SVEP1_ENST00000297826.5_Silent_p.R1410R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3484					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCATTTGGGCGTTGGCAGA	0.502																																																0													70.0	68.0	69.0					9																	113139603		1907	4117	6024	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10452C>G	9.37:g.113139603G>C			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	79	35	79
CACNA1B	774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	140946550	140946550	+	Silent	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:140946550C>G	ENST00000371372.1	+	25	3862	c.3717C>G	c.(3715-3717)tcC>tcG	p.S1239S	CACNA1B_ENST00000277551.2_Silent_p.S1239S|CACNA1B_ENST00000371363.1_Silent_p.S1239S|CACNA1B_ENST00000371355.4_Silent_p.S1240S|CACNA1B_ENST00000371357.1_Silent_p.S1240S|CACNA1B_ENST00000277549.5_Silent_p.S435S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTAGAGGATCCAAAGGGAAAG	0.582																																																0													41.0	46.0	45.0					9																	140946550		2020	4190	6210	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3717C>G	9.37:g.140946550C>G			B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	17	9	17
AMPD1	270	broad.mit.edu;ucsc.edu	37	1	115216305	115216305	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:115216305G>A	ENST00000520113.2	-	15	2154	c.2139C>T	c.(2137-2139)tgC>tgT	p.C713C	AMPD1_ENST00000369538.3_Silent_p.C709C|AMPD1_ENST00000353928.6_Silent_p.C680C			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	713					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCCACTTCGCACATATCAC	0.438																																																0													102.0	100.0	101.0					1																	115216305		2203	4300	6503	SO:0001819	synonymous_variant	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2139C>T	1.37:g.115216305G>A			A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	ENST00000520113.2	37	CCDS876.2																																																																																				0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			40	42	40	42
FRMD7	90167	broad.mit.edu;ucsc.edu	37	X	131214292	131214292	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:131214292C>G	ENST00000298542.4	-	10	1083	c.908G>C	c.(907-909)gGa>gCa	p.G303A	FRMD7_ENST00000370879.1_Missense_Mutation_p.G183A|FRMD7_ENST00000464296.1_Missense_Mutation_p.G288A	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	303					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGGTTCGTCCACTATCATA	0.373																																																0													124.0	110.0	114.0					X																	131214292		2203	4300	6503	SO:0001583	missense	90167			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.908G>C	X.37:g.131214292C>G	ENSP00000298542:p.Gly303Ala		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639993	0.87760	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.99930	-8.16;-8.16;-8.16	5.6	5.6	0.85130	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	D	0.95704	0.8752	10	0.87932	D	0	.	17.4475	0.87583	0.0:1.0:0.0:0.0	.	288;303	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	A	183;303;288	ENSP00000359916:G183A;ENSP00000298542:G303A;ENSP00000417996:G288A	ENSP00000298542:G303A	G	-	2	0	FRMD7	131041973	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.245000	0.78237	2.335000	0.79485	0.600000	0.82982	GGA		0.373	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		3	13	3	13
MMP24	10893	broad.mit.edu;ucsc.edu	37	20	33862232	33862232	+	Silent	SNP	C	C	T	rs370527619	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33862232C>T	ENST00000246186.6	+	9	1843	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456790.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	586					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCCAGGACGACGTGGACATCA	0.657																																																0													92.0	105.0	100.0					20																	33862232		2140	4233	6373	SO:0001819	synonymous_variant	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1758C>T	20.37:g.33862232C>T			B7ZBG8|Q9H440	Silent	SNP	ENST00000246186.6	37	CCDS46593.1																																																																																				0.657	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		90	135	90	135
GABRG2	2566	broad.mit.edu;ucsc.edu	37	5	161569181	161569181	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:161569181G>T	ENST00000361925.4	+	7	1001	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	GABRG2_ENST00000414552.2_Missense_Mutation_p.V301F|GABRG2_ENST00000356592.3_Missense_Mutation_p.V261F|GABRG2_ENST00000393933.4_Missense_Mutation_p.V166F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	261					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGATTATGTGGTCATGTCTGT	0.403																																																1	Substitution - Missense(1)	large_intestine(1)											299.0	269.0	279.0					5																	161569181		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.781G>T	5.37:g.161569181G>T	ENSP00000354651:p.Val261Phe		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535658	0.85812	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79352	-1.26;-1.15;-1.26;-1.26;-1.26	5.87	5.0	0.66597	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053480	0.85682	D	0.000000	D	0.88851	0.6549	M	0.87180	2.865	0.80722	D	1	D;D;D	0.61080	0.989;0.976;0.97	D;D;D	0.69654	0.965;0.952;0.92	D	0.90811	0.4701	10	0.87932	D	0	.	14.7436	0.69474	0.0689:0.0:0.9311:0.0	.	301;261;261	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	F	261;301;261;166;166	ENSP00000349000:V261F;ENSP00000410732:V301F;ENSP00000354651:V261F;ENSP00000377510:V166F;ENSP00000430182:V166F	ENSP00000349000:V261F	V	+	1	0	GABRG2	161501759	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.569000	0.60865	1.491000	0.48482	0.655000	0.94253	GTC		0.403	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			36	92	36	92
TFPT	29844	broad.mit.edu;hgsc.bcm.edu	37	19	54611378	54611379	+	Frame_Shift_Ins	INS	-	-	CCATC			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:54611378_54611379insCCATC	ENST00000391759.1	-	5	1001_1002	c.596_597insGATGG	c.(595-597)ggafs	p.-199fs	TFPT_ENST00000391758.1_Frame_Shift_Ins_p.-190fs|TFPT_ENST00000391757.1_Frame_Shift_Ins_p.D187fs|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)						apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTGCTCGGCGTCCATCCCGTGG	0.713			T	TCF3	pre-B ALL																																		Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0																																										SO:0001589	frameshift_variant	29844			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.592_596dupGATGG	19.37:g.54611379_54611383dupCCATC	ENSP00000375639:p.Gly199fs			Frame_Shift_Ins	INS	ENST00000391759.1	37	CCDS12878.1																																																																																				0.713	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		30	152	30	152
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76939914	76939915	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:76939914_76939915delAG	ENST00000373344.5	-	9	1047_1048	c.833_834delCT	c.(832-834)actfs	p.T278fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.T240fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	278	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTTACATGCAGTGACCAAGTC	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.833_834delCT	X.37:g.76939914_76939915delAG	ENSP00000362441:p.Thr278fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		70	21	70	21
