#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	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
ABR	29	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	909373	909374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr17:909373_909374insG	ENST00000302538.5	-	23	2672_2673	c.2526_2527insC	c.(2524-2529)cccattfs	p.I843fs	ABR_ENST00000536794.2_Frame_Shift_Ins_p.I625fs|ABR_ENST00000574437.1_Frame_Shift_Ins_p.I797fs|ABR_ENST00000544583.2_Frame_Shift_Ins_p.I797fs|ABR_ENST00000543210.2_Frame_Shift_Ins_p.I294fs|ABR_ENST00000291107.2_Frame_Shift_Ins_p.I806fs|ABR_ENST00000572441.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	843	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I843fs*>18(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCGAAGGAAATGGGGGGGTGCT	0.644																																					p.I843fs	Esophageal Squamous(197;2016 2115 4129 29033 46447)	.											.	ABR	91	1	Insertion - Frameshift(1)	ovary(1)	c.2527_2528insC						.																																			SO:0001589	frameshift_variant	29	exon23			AGGAAATGGGGGG	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2527dupC	17.37:g.909380_909380dupG	ENSP00000303909:p.Ile843fs	102.0	0.0		139.0	47.0	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Ins	INS	ENST00000302538.5	37	CCDS10999.1																																																																																			.		0.644	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
ADAMTS1	9510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	28210546	28210546	+	Silent	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr21:28210546T>C	ENST00000284984.3	-	9	2710	c.2256A>G	c.(2254-2256)gaA>gaG	p.E752E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	752	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCTGTTTCACTTCGATGTTGG	0.433																																					p.E752E		.											.	ADAMTS1	272	0			c.A2256G						.						87.0	71.0	76.0					21																	28210546		2203	4292	6495	SO:0001819	synonymous_variant	9510	exon9			TTTCACTTCGATG	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2256A>G	21.37:g.28210546T>C		69.0	0.0		83.0	35.0	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	CCDS33524.1																																																																																			.		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	7706898	7706910	+	Frame_Shift_Del	DEL	TGGGCGTGCATTC	TGGGCGTGCATTC	-	rs35209447	byFrequency	TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	TGGGCGTGCATTC	TGGGCGTGCATTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr5:7706898_7706910delTGGGCGTGCATTC	ENST00000338316.4	+	8	1240_1252	c.1151_1163delTGGGCGTGCATTC	c.(1150-1164)gtgggcgtgcattctfs	p.VGVHS384fs	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Frame_Shift_Del_p.VGVHS204fs	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	384					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.G385D(2)|p.V384V(1)|p.V386A(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACATGCGCGTGGGCGTGCATTCTGGGAATGTC	0.479																																					p.384_388del		.											.	ADCY2	97	4	Substitution - Missense(3)|Substitution - coding silent(1)	lung(2)|prostate(1)|large_intestine(1)	c.1151_1163del						.																																			SO:0001589	frameshift_variant	108	exon8			TGCGCGTGGGCGT	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1151_1163delTGGGCGTGCATTC	5.37:g.7706898_7706910delTGGGCGTGCATTC	ENSP00000342952:p.Val384fs	228.0	0.0		264.0	59.0	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Frame_Shift_Del	DEL	ENST00000338316.4	37	CCDS3872.2																																																																																			.		0.479	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
ADNP	23394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	49508566	49508566	+	Silent	SNP	A	A	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr20:49508566A>C	ENST00000396029.3	-	5	3252	c.2685T>G	c.(2683-2685)ccT>ccG	p.P895P	ADNP_ENST00000371602.4_Silent_p.P895P|ADNP_ENST00000396032.3_Silent_p.P895P|ADNP_ENST00000349014.3_Silent_p.P895P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	895					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTTCAAAAACAGGGTCAAAAG	0.413																																					p.P895P		.											.	ADNP	92	0			c.T2685G						.						142.0	143.0	143.0					20																	49508566		2203	4300	6503	SO:0001819	synonymous_variant	23394	exon5			AAAAACAGGGTCA	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2685T>G	20.37:g.49508566A>C		112.0	0.0		161.0	84.0	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																			.		0.413	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
AGAP1	116987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	237032725	237032725	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr2:237032725A>G	ENST00000304032.8	+	18	3113	c.2533A>G	c.(2533-2535)Aac>Gac	p.N845D	AGAP1_ENST00000336665.5_Missense_Mutation_p.N792D|AGAP1_ENST00000428334.2_Missense_Mutation_p.N684D|AGAP1_ENST00000409538.1_Missense_Mutation_p.N1057D	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	845					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGAAACAATAACCGGAACAA	0.652																																					p.N845D		.											.	AGAP1	93	0			c.A2533G						.						60.0	66.0	64.0					2																	237032725		2203	4300	6503	SO:0001583	missense	116987	exon18			AACAATAACCGGA	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2533A>G	2.37:g.237032725A>G	ENSP00000307634:p.Asn845Asp	293.0	0.0		382.0	174.0	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937476	0.34189	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.70516	-0.49;-0.47;-0.46;0.59	4.2	1.68	0.24146	.	0.307764	0.32357	N	0.006201	T	0.59932	0.2230	L	0.58101	1.795	0.28518	N	0.913215	B;B	0.22541	0.004;0.071	B;B	0.18263	0.01;0.021	T	0.52793	-0.8528	10	0.45353	T	0.12	.	4.8536	0.13549	0.7462:0.0:0.0907:0.1631	.	792;845	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	D	845;792;1057;684	ENSP00000307634:N845D;ENSP00000338378:N792D;ENSP00000386897:N1057D;ENSP00000411824:N684D	ENSP00000307634:N845D	N	+	1	0	AGAP1	236697464	0.994000	0.37717	0.765000	0.31456	0.993000	0.82548	2.956000	0.49129	0.053000	0.16036	0.460000	0.39030	AAC	.		0.652	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
AGAP2	116986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	58125709	58125709	+	Silent	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr12:58125709G>A	ENST00000547588.1	-	8	1835	c.1836C>T	c.(1834-1836)ctC>ctT	p.L612L	AGAP2_ENST00000257897.3_Silent_p.L276L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	612					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGAGGACGGGAGGGAAGAAG	0.622																																					p.L612L		.											.	AGAP2	716	0			c.C1836T						.						56.0	51.0	53.0					12																	58125709		2203	4300	6503	SO:0001819	synonymous_variant	116986	exon8			GGACGGGAGGGAA	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1836C>T	12.37:g.58125709G>A		81.0	0.0		109.0	50.0	NM_001122772	A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	9.201	1.028449	0.19512	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.63	-0.156	0.13391	.	.	.	.	.	T	0.41696	0.1170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24693	-1.0153	4	.	.	.	.	1.6027	0.02678	0.3342:0.1377:0.3884:0.1397	.	.	.	.	S	476	.	.	P	-	1	0	AGAP2	56411976	0.996000	0.38824	0.996000	0.52242	0.962000	0.63368	0.351000	0.20096	-0.010000	0.14271	0.561000	0.74099	CCC	.		0.622	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
AGPAT9	84803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	84457903	84457903	+	Missense_Mutation	SNP	T	T	A	rs150911365		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr4:84457903T>A	ENST00000395226.2	+	2	346	c.128T>A	c.(127-129)gTg>gAg	p.V43E	AGPAT9_ENST00000264409.4_Missense_Mutation_p.V43E	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	43					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AAGATCCTAGTGAAAACTTTA	0.572																																					p.V43E		.											.	AGPAT9	91	0			c.T128A						.						51.0	48.0	49.0					4																	84457903		2203	4300	6503	SO:0001583	missense	84803	exon2			TCCTAGTGAAAAC	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.128T>A	4.37:g.84457903T>A	ENSP00000378651:p.Val43Glu	47.0	0.0		36.0	28.0	NM_001256421	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091865	0.36952	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.49720	0.77;0.77	4.68	4.68	0.58851	.	0.079233	0.49916	D	0.000130	T	0.42653	0.1212	L	0.58101	1.795	0.50632	D	0.999885	P	0.37423	0.594	B	0.33750	0.169	T	0.39231	-0.9624	10	0.35671	T	0.21	-11.887	13.1799	0.59649	0.0:0.0:0.0:1.0	.	43	Q53EU6	GPAT3_HUMAN	E	43	ENSP00000378651:V43E;ENSP00000264409:V43E	ENSP00000264409:V43E	V	+	2	0	AGPAT9	84676927	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	5.148000	0.64857	1.760000	0.52011	0.374000	0.22700	GTG	T|1.000;C|0.000		0.572	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
APC2	10297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1456316	1456316	+	Silent	SNP	G	G	A	rs138830892	byFrequency	TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:1456316G>A	ENST00000535453.1	+	7	2442	c.729G>A	c.(727-729)gcG>gcA	p.A243A	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.A243A|APC2_ENST00000238483.4_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCTTGCTGGCGGTGAAGTCGG	0.682																																					p.A243A		.											.	APC2	290	0			c.G729A						.						25.0	26.0	26.0					19																	1456316		2194	4297	6491	SO:0001819	synonymous_variant	10297	exon8			GCTGGCGGTGAAG		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.729G>A	19.37:g.1456316G>A		159.0	0.0		201.0	68.0	NM_005883	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	CCDS12068.1																																																																																			G|1.000;C|0.000		0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883	
BAG4	9530	ucsc.edu;bcgsc.ca	37	8	38050279	38050279	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr8:38050279G>T	ENST00000287322.4	+	2	615	c.344G>T	c.(343-345)aGt>aTt	p.S115I	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Intron	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	115					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CCTTACCCAAGTACATATCCT	0.353																																					p.S115I		.											.	BAG4	228	0			c.G344T						.						87.0	84.0	85.0					8																	38050279		2203	4300	6503	SO:0001583	missense	9530	exon2			ACCCAAGTACATA	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.344G>T	8.37:g.38050279G>T	ENSP00000287322:p.Ser115Ile	67.0	0.0		43.0	4.0	NM_004874	B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488691	0.64074	.	.	ENSG00000156735	ENST00000287322	D	0.85556	-2.0	5.02	4.15	0.48705	.	0.264250	0.43260	D	0.000597	D	0.84202	0.5420	M	0.62723	1.935	0.33659	D	0.60947	P	0.48407	0.91	P	0.46208	0.507	D	0.88542	0.3110	10	0.66056	D	0.02	-2.8276	9.6883	0.40111	0.098:0.0:0.902:0.0	.	115	O95429	BAG4_HUMAN	I	115	ENSP00000287322:S115I	ENSP00000287322:S115I	S	+	2	0	BAG4	38169436	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.945000	0.40273	1.252000	0.44001	-0.229000	0.12294	AGT	.		0.353	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874	
BBS2	583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	56548459	56548459	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr16:56548459T>A	ENST00000245157.5	-	2	671	c.251A>T	c.(250-252)aAc>aTc	p.N84I	BBS2_ENST00000568104.1_Missense_Mutation_p.N84I	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	84					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AAGCTCAGGGTTCAATACGCC	0.473									Bardet-Biedl syndrome																												p.N84I		.											.	BBS2	91	0			c.A251T						.						96.0	95.0	95.0					16																	56548459		2198	4300	6498	SO:0001583	missense	583	exon2	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TCAGGGTTCAATA	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.251A>T	16.37:g.56548459T>A	ENSP00000245157:p.Asn84Ile	256.0	0.0		140.0	109.0	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744079	0.49151	.	.	ENSG00000125124	ENST00000245157	T	0.67523	-0.27	5.4	1.81	0.25067	WD40 repeat-like-containing domain (1);	0.449158	0.27424	N	0.019429	T	0.56381	0.1981	L	0.47716	1.5	0.32435	N	0.547476	P;P	0.38250	0.624;0.624	B;B	0.41332	0.354;0.354	T	0.58601	-0.7608	10	0.38643	T	0.18	-4.298	5.4598	0.16610	0.1184:0.2048:0.0:0.6768	.	84;84	A8K0N9;Q9BXC9	.;BBS2_HUMAN	I	84	ENSP00000245157:N84I	ENSP00000245157:N84I	N	-	2	0	BBS2	55105960	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	1.485000	0.35519	0.030000	0.15379	0.482000	0.46254	AAC	.		0.473	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
BCL2L1	598	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	30309743	30309743	+	Silent	SNP	T	T	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr20:30309743T>A	ENST00000307677.4	-	2	689	c.279A>T	c.(277-279)gcA>gcT	p.A93A	BCL2L1_ENST00000420653.1_Silent_p.A93A|BCL2L1_ENST00000376062.2_Silent_p.A93A|BCL2L1_ENST00000376055.4_Silent_p.A93A	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	93					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTCGTCGCCTGCCTCCCTCA	0.602																																					p.A93A	Colon(51;693 1004 1401 20431 21026)	.											.	BCL2L1	1084	0			c.A279T						.						95.0	83.0	87.0					20																	30309743		2203	4300	6503	SO:0001819	synonymous_variant	598	exon2			GTCGCCTGCCTCC	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.279A>T	20.37:g.30309743T>A		141.0	0.0		279.0	83.0	NM_138578	E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	ENST00000307677.4	37	CCDS13189.1																																																																																			.		0.602	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578	
BCLAF1	9774	hgsc.bcm.edu;broad.mit.edu	37	6	136589436	136589436	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr6:136589436G>A	ENST00000531224.1	-	10	2513	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S581F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S752F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S752F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S754F|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S752F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	754	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGATGCTGAAGAGGATGAAGA	0.338																																					p.S754F	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1	228	0			c.C2261T						.						124.0	108.0	114.0					6																	136589436		2203	4300	6503	SO:0001583	missense	9774	exon10			GCTGAAGAGGATG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2261C>T	6.37:g.136589436G>A	ENSP00000435210:p.Ser754Phe	106.0	0.0		94.0	11.0	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238426	0.79800	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	4.87	4.87	0.63330	.	0.000000	0.56097	D	0.000028	T	0.23492	0.0568	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;0.994;0.987;0.987	P;D;P;P;P	0.74023	0.775;0.982;0.865;0.775;0.775	T	0.00948	-1.1504	10	0.31617	T	0.26	-6.0919	18.3705	0.90405	0.0:0.0:1.0:0.0	.	752;82;752;754;581	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	F	754;752;754;581;752;752	ENSP00000435210:S754F;ENSP00000229446:S752F;ENSP00000435441:S754F;ENSP00000436501:S581F;ENSP00000434826:S752F;ENSP00000376159:S752F	ENSP00000229446:S752F	S	-	2	0	BCLAF1	136631129	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.615000	0.83006	2.431000	0.82371	0.484000	0.47621	TCT	.		0.338	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
BRD4	23476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	19	15349580	15349580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:15349580C>A	ENST00000263377.2	-	19	4215	c.3994G>T	c.(3994-3996)Gag>Tag	p.E1332*	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1332	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGCTCCTGCTCCCGCTTCCGG	0.677			T	C15orf55	lethal midline carcinoma of young people																																p.E1332X		.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	BRD4	767	0			c.G3994T						.						11.0	12.0	12.0					19																	15349580		2198	4292	6490	SO:0001587	stop_gained	23476	exon19			CCTGCTCCCGCTT	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3994G>T	19.37:g.15349580C>A	ENSP00000263377:p.Glu1332*	62.0	0.0		135.0	66.0	NM_058243	O60433|Q4G0X8|Q86YS8|Q96PD3	Nonsense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	45	11.288583	0.99542	.	.	ENSG00000141867	ENST00000263377	.	.	.	5.16	5.16	0.70880	.	0.000000	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.0666	17.4346	0.87548	0.0:1.0:0.0:0.0	.	.	.	.	X	1332	.	ENSP00000263377:E1332X	E	-	1	0	BRD4	15210580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.148000	0.64857	2.396000	0.81511	0.645000	0.84053	GAG	.		0.677	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	181479711	181479711	+	Missense_Mutation	SNP	G	G	A	rs369308237		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:181479711G>A	ENST00000367573.2	+	2	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R122Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R73Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R73Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R122Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R122Q|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	122					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R122Q(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCATGTCCCGAAGACTGGTA	0.527																																					p.R122Q		.											.	CACNA1E	95	2	Substitution - Missense(2)	lung(2)	c.G365A						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4106		0,0,2053	111.0	112.0	112.0		365,365,365	5.3	1.0	1		112	1,8363		0,1,4181	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	43,43,43	0,1,6234	AA,AG,GG		0.012,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging	122/2271,122/2314,122/2252	181479711	1,12469	2053	4182	6235	SO:0001583	missense	777	exon2			TGTCCCGAAGACT	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.365G>A	1.37:g.181479711G>A	ENSP00000356545:p.Arg122Gln	167.0	0.0		418.0	69.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267351	0.80469	0.0	1.2E-4	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.27	5.27	0.74061	.	0.067055	0.64402	D	0.000015	D	0.87099	0.6093	N	0.00771	-1.2	0.80722	D	1	P;P	0.47762	0.9;0.9	B;B	0.32583	0.148;0.148	D	0.89417	0.3707	10	0.27785	T	0.31	.	18.4942	0.90858	0.0:0.0:1.0:0.0	.	122;122	Q15878-2;Q15878-3	.;.	Q	122;122;122;73;73;122;122	ENSP00000432038:R122Q;ENSP00000356542:R122Q;ENSP00000434814:R122Q;ENSP00000350183:R73Q;ENSP00000351101:R73Q;ENSP00000353222:R122Q;ENSP00000356545:R122Q	ENSP00000350183:R73Q	R	+	2	0	CACNA1E	179746334	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.942000	0.63547	2.456000	0.83038	0.561000	0.74099	CGA	.		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CDH19	28513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	64239420	64239420	+	Missense_Mutation	SNP	G	G	C	rs368840152		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr18:64239420G>C	ENST00000540086.1	-	2	268	c.22C>G	c.(22-24)Cgt>Ggt	p.R8G	CDH19_ENST00000262150.2_Missense_Mutation_p.R8G	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACATAAAACGCAGCAGTAAA	0.393																																					p.R8G		.											.	CDH19	516	0			c.C22G						.						86.0	80.0	82.0					18																	64239420		2203	4300	6503	SO:0001583	missense	28513	exon2			TAAAACGCAGCAG	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.22C>G	18.37:g.64239420G>C	ENSP00000439593:p.Arg8Gly	103.0	0.0		142.0	76.0	NM_021153	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671478	0.14776	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.55930	0.49;0.51	5.85	3.0	0.34707	.	2.735250	0.00958	N	0.003060	T	0.33000	0.0848	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.16289	0.015;0.003	T	0.19257	-1.0311	10	0.26408	T	0.33	.	3.5124	0.07713	0.139:0.2473:0.4863:0.1274	.	8;8	F5H1K0;Q9H159	.;CAD19_HUMAN	G	8	ENSP00000262150:R8G;ENSP00000439593:R8G	ENSP00000262150:R8G	R	-	1	0	CDH19	62390400	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.215000	0.17562	0.341000	0.23771	0.563000	0.77884	CGT	.		0.393	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
CERS5	91012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50529577	50529577	+	Silent	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr12:50529577G>A	ENST00000317551.6	-	8	934	c.810C>T	c.(808-810)gaC>gaT	p.D270D	CERS5_ENST00000422340.2_Silent_p.D212D	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	270	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CAAAAAGGGTGTCACAGAGCC	0.458																																					p.D270D		.											.	.	.	0			c.C810T						.						123.0	114.0	117.0					12																	50529577		2203	4300	6503	SO:0001819	synonymous_variant	91012	exon8			AAGGGTGTCACAG		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.810C>T	12.37:g.50529577G>A		107.0	0.0		117.0	46.0	NM_147190	B4DV54	Silent	SNP	ENST00000317551.6	37	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.302|9.302	1.053327|1.053327	0.19907|0.19907	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000550919|ENST00000550547;ENST00000547800	.|.	.|.	.|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	.|.	.|.	.|.	.|.	T|T	0.59729|0.59729	0.2215|0.2215	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56757|0.56757	-0.7926|-0.7926	4|4	.|.	.|.	.|.	-8.7566|-8.7566	9.0655|9.0655	0.36460|0.36460	0.1345:0.0:0.8655:0.0|0.1345:0.0:0.8655:0.0	.|.	.|.	.|.	.|.	Y|I	40|72;174	.|.	.|.	H|T	-|-	1|2	0|0	CERS5|CERS5	48815844|48815844	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.157000|2.157000	0.42320|0.42320	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CAC|ACA	.		0.458	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
CHERP	10523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	16636060	16636060	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:16636060G>C	ENST00000198939.6	-	10	1803	c.1767C>G	c.(1765-1767)ttC>ttG	p.F589L	CHERP_ENST00000546361.2_Missense_Mutation_p.F578L|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CACCGGCAGGGAAGTCCCCCT	0.716																																					p.F578L		.											.	CHERP	92	0			c.C1734G						.						6.0	9.0	8.0					19																	16636060		1761	3768	5529	SO:0001583	missense	10523	exon10			GGCAGGGAAGTCC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1767C>G	19.37:g.16636060G>C	ENSP00000198939:p.Phe589Leu	98.0	0.0		187.0	67.0	NM_006387		Missense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	G	13.77	2.335910	0.41398	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.89123	-2.47;-2.47	5.13	-1.55	0.08558	.	.	.	.	.	T	0.79429	0.4444	L	0.41236	1.265	0.80722	D	1	P	0.38504	0.634	B	0.36186	0.219	T	0.69113	-0.5231	9	0.12430	T	0.62	-17.0758	9.0272	0.36236	0.5637:0.0:0.4363:0.0	.	578	Q8IWX8	CHERP_HUMAN	L	578;589	ENSP00000439856:F578L;ENSP00000198939:F589L	ENSP00000198939:F589L	F	-	3	2	CHERP	16497060	1.000000	0.71417	0.791000	0.31998	0.576000	0.36127	0.962000	0.29280	-0.051000	0.13334	-0.291000	0.09656	TTC	.		0.716	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387	
CIZ1	25792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	130941315	130941315	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr9:130941315C>T	ENST00000393608.1	-	8	1373	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	CIZ1_ENST00000541172.1_Missense_Mutation_p.V290M|CIZ1_ENST00000325721.8_Missense_Mutation_p.V362M|CIZ1_ENST00000538431.1_Missense_Mutation_p.V391M|CIZ1_ENST00000372938.5_Missense_Mutation_p.V391M|CIZ1_ENST00000357558.5_Missense_Mutation_p.V391M|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000277465.4_Missense_Mutation_p.V391M	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	391	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgcagctgcacctgccttggg	0.642																																					p.V421M		.											.	CIZ1	92	0			c.G1261A						.						61.0	50.0	54.0					9																	130941315		2203	4300	6503	SO:0001583	missense	25792	exon8			GCTGCACCTGCCT	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1171G>A	9.37:g.130941315C>T	ENSP00000377232:p.Val391Met	110.0	0.0		174.0	81.0	NM_001257975	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085356	0.36758	.	.	ENSG00000148337	ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T	0.34275	1.37;1.52;1.57;1.55;1.96;1.57;1.37;1.95	2.13	-0.265	0.12946	.	.	.	.	.	T	0.29126	0.0724	N	0.08118	0	0.09310	N	1	D;P;P;P;P	0.57571	0.98;0.662;0.842;0.599;0.94	P;B;B;B;B	0.61397	0.888;0.217;0.36;0.039;0.36	T	0.13335	-1.0513	9	0.48119	T	0.1	.	4.3	0.10920	0.4649:0.3243:0.2108:0.0	.	391;391;391;362;391	B7Z3U7;F5H2X7;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;CIZ1_HUMAN;.;.	M	391;391;391;362;358;290;391;367;391;313	ENSP00000377232:V391M;ENSP00000439244:V391M;ENSP00000350169:V391M;ENSP00000320374:V362M;ENSP00000445057:V290M;ENSP00000277465:V391M;ENSP00000362029:V391M;ENSP00000398011:V313M	ENSP00000277465:V391M	V	-	1	0	CIZ1	129981136	0.000000	0.05858	0.003000	0.11579	0.204000	0.24138	-0.972000	0.03802	-0.057000	0.13199	0.462000	0.41574	GTG	.		0.642	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
CXXC5	51523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	139060853	139060853	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr5:139060853C>G	ENST00000302517.3	+	2	1459	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.L249V	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	249					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGGAGAGCTGGCCTCTGC	0.647																																					p.L249V		.											.	CXXC5	90	0			c.C745G						.						31.0	37.0	35.0					5																	139060853		2065	4220	6285	SO:0001583	missense	51523	exon2			GGAGAGCTGGCCT	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.745C>G	5.37:g.139060853C>G	ENSP00000302543:p.Leu249Val	99.0	0.0		115.0	8.0	NM_016463	B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154667	0.57259	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.33644	0.0870	N	0.24115	0.695	0.51012	D	0.999901	P	0.47841	0.901	P	0.44696	0.458	T	0.05257	-1.0896	9	0.27082	T	0.32	-9.0229	7.7398	0.28835	0.0:0.8536:0.0:0.1464	.	249	Q7LFL8	CXXC5_HUMAN	V	249	.	ENSP00000302543:L249V	L	+	1	2	CXXC5	139041037	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.821000	0.48065	2.343000	0.79666	0.505000	0.49811	CTG	.		0.647	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463	
DDX41	51428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176940709	176940709	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr5:176940709G>T	ENST00000507955.1	-	10	1598	c.1075C>A	c.(1075-1077)Cgt>Agt	p.R359S	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	359	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AAGATGGTACGGATGTCACCC	0.632																																					p.R359S		.											.	DDX41	226	0			c.C1075A						.						108.0	87.0	94.0					5																	176940709		2203	4300	6503	SO:0001583	missense	51428	exon10			TGGTACGGATGTC	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1075C>A	5.37:g.176940709G>T	ENSP00000422753:p.Arg359Ser	183.0	0.0		212.0	105.0	NM_016222	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312097	0.40895	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.15256	2.44;2.44	5.8	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056560	0.64402	D	0.000002	T	0.28034	0.0691	L	0.50919	1.6	0.80722	D	1	B;B	0.28933	0.228;0.064	P;B	0.44359	0.447;0.131	T	0.07328	-1.0778	10	0.72032	D	0.01	-11.9076	13.9359	0.64026	0.0:0.0:0.7267:0.2733	.	233;359	B3KRK2;Q9UJV9	.;DDX41_HUMAN	S	377;359	ENSP00000330349:R377S;ENSP00000422753:R359S	ENSP00000330349:R377S	R	-	1	0	DDX41	176873315	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	2.483000	0.45233	2.749000	0.94314	0.655000	0.94253	CGT	.		0.632	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	
DMD	1756	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	31747756	31747756	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chrX:31747756G>A	ENST00000357033.4	-	52	7858	c.7652C>T	c.(7651-7653)aCg>aTg	p.T2551M	DMD_ENST00000343523.2_Missense_Mutation_p.T91M|DMD_ENST00000378677.2_Missense_Mutation_p.T2547M|DMD_ENST00000474231.1_Missense_Mutation_p.T91M|DMD_ENST00000378707.3_Missense_Mutation_p.T91M|DMD_ENST00000359836.1_Missense_Mutation_p.T91M|DMD_ENST00000541735.1_Missense_Mutation_p.T91M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2551					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTCGATCCGTAATGATTGT	0.393																																					p.T2551M		.											.	DMD	265	7	Substitution - Missense(7)	central_nervous_system(4)|prostate(3)	c.C7652T						.						235.0	198.0	211.0					X																	31747756		2202	4300	6502	SO:0001583	missense	1756	exon52			CGATCCGTAATGA	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7652C>T	X.37:g.31747756G>A	ENSP00000354923:p.Thr2551Met	207.0	1.0		202.0	69.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146006	0.77888	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.23	5.23	0.72850	.	0.000000	0.35936	U	0.002897	T	0.69611	0.3130	M	0.74258	2.255	0.53005	D	0.999962	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.87578	0.974;0.993;0.998;0.993;0.995;0.955;0.993;0.993;0.995;0.989	T	0.71009	-0.4716	10	0.46703	T	0.11	.	18.1287	0.89595	0.0:0.0:1.0:0.0	.	2543;2551;2547;1210;1207;91;91;91;91;91	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	M	2543;1210;1207;247;2547;2551;91;91;2551;2428;91;91;91	ENSP00000350765:T247M;ENSP00000367948:T2547M;ENSP00000354923:T2551M;ENSP00000352894:T91M;ENSP00000340057:T91M;ENSP00000367979:T91M;ENSP00000444119:T91M;ENSP00000417123:T91M	ENSP00000340057:T91M	T	-	2	0	DMD	31657677	1.000000	0.71417	0.981000	0.43875	0.802000	0.45316	8.299000	0.89946	2.304000	0.77564	0.506000	0.49869	ACG	.		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	196891544	196891544	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr2:196891544T>C	ENST00000312428.6	-	7	707	c.607A>G	c.(607-609)Ata>Gta	p.I203V	DNAH7_ENST00000410072.1_Missense_Mutation_p.I203V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	203	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGTAACTATGCTGTCAGTG	0.353																																					p.I203V		.											.	DNAH7	102	0			c.A607G						.						129.0	122.0	124.0					2																	196891544		1874	4102	5976	SO:0001583	missense	56171	exon7			TAACTATGCTGTC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.607A>G	2.37:g.196891544T>C	ENSP00000311273:p.Ile203Val	108.0	0.0		129.0	67.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160789	0.38119	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.22539	1.95;2.78	5.92	5.92	0.95590	.	0.057481	0.64402	D	0.000005	T	0.21841	0.0526	M	0.61703	1.905	0.41309	D	0.987093	B	0.13145	0.007	B	0.14023	0.01	T	0.06844	-1.0804	10	0.18710	T	0.47	.	11.1289	0.48334	0.0:0.0722:0.0:0.9278	.	203	Q8WXX0	DYH7_HUMAN	V	203	ENSP00000311273:I203V;ENSP00000386260:I203V	ENSP00000311273:I203V	I	-	1	0	DNAH7	196599789	1.000000	0.71417	0.952000	0.39060	0.698000	0.40448	2.314000	0.43743	2.260000	0.74910	0.528000	0.53228	ATA	.		0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DOCK8	81704	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	429834	429834	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr9:429834T>C	ENST00000453981.1	+	36	4718	c.4606T>C	c.(4606-4608)Ttc>Ctc	p.F1536L	DOCK8_ENST00000469391.1_Missense_Mutation_p.F1436L|DOCK8_ENST00000432829.2_Missense_Mutation_p.F1468L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F1003L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1536					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTCATGAGGTTCAGTTTTGG	0.483																																					p.F1536L		.											.	DOCK8	517	0			c.T4606C						.						82.0	66.0	71.0					9																	429834		2203	4300	6503	SO:0001583	missense	81704	exon36			ATGAGGTTCAGTT	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4606T>C	9.37:g.429834T>C	ENSP00000408464:p.Phe1536Leu	118.0	1.0		139.0	45.0	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421346	0.62622	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.01665	4.7;4.7;4.7;4.7	4.98	4.98	0.66077	Armadillo-type fold (1);	0.108661	0.64402	D	0.000004	T	0.01976	0.0062	N	0.22421	0.69	0.41650	D	0.989123	B;B;B	0.16603	0.018;0.008;0.008	B;B;B	0.17722	0.019;0.019;0.019	T	0.60591	-0.7233	10	0.38643	T	0.18	.	15.1274	0.72494	0.0:0.0:0.0:1.0	.	1436;1003;1536	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	L	1536;1504;1468;1436;1003	ENSP00000408464:F1536L;ENSP00000394888:F1468L;ENSP00000419438:F1436L;ENSP00000371766:F1003L	ENSP00000287364:F1504L	F	+	1	0	DOCK8	419834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.001000	0.57046	2.216000	0.71823	0.533000	0.62120	TTC	.		0.483	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
EDNRB	1910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	78474006	78474006	+	Silent	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr13:78474006T>C	ENST00000334286.5	-	6	1418	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	EDNRB_ENST00000446573.1_Silent_p.K394K|EDNRB_ENST00000377211.4_Silent_p.K484K	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	394					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TAAAGCAGTTTTTGAATCTTT	0.348																																					p.K484K		.											.	EDNRB	522	0			c.A1452G						.						83.0	78.0	79.0					13																	78474006		2203	4299	6502	SO:0001819	synonymous_variant	1910	exon7			GCAGTTTTTGAAT	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1182A>G	13.37:g.78474006T>C		34.0	0.0		20.0	16.0	NM_001201397	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	CCDS9461.1																																																																																			.		0.348	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
ERRFI1	54206	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	8074333	8074340	+	Frame_Shift_Del	DEL	TCCTCTTC	TCCTCTTC	-	rs34781518	byFrequency	TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	TCCTCTTC	TCCTCTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:8074333_8074340delTCCTCTTC	ENST00000377482.5	-	4	542_549	c.319_326delGAAGAGGA	c.(319-327)gaagaggatfs	p.EED107fs	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	107					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TACAACTTGATCCTCTTCATGTGGTCCC	0.476																																					p.107_109del		.											.	ERRFI1	91	0			c.319_326del						.																																			SO:0001589	frameshift_variant	54206	exon4			ACTTGATCCTCTT	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.319_326delGAAGAGGA	1.37:g.8074333_8074340delTCCTCTTC	ENSP00000366702:p.Glu107fs	124.0	0.0		30.0	15.0	NM_018948	B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Del	DEL	ENST00000377482.5	37	CCDS94.1																																																																																			.		0.476	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	
ERRFI1	54206	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	8074342	8074343	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:8074342_8074343delTG	ENST00000377482.5	-	4	539_540	c.316_317delCA	c.(316-318)catfs	p.H106fs	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	106					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATCCTCTTCATGTGGTCCCAAG	0.47																																					p.106_106del		.											.	ERRFI1	91	0			c.316_317del						.																																			SO:0001589	frameshift_variant	54206	exon4			TCTTCATGTGGTC	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.316_317delCA	1.37:g.8074344_8074345delTG	ENSP00000366702:p.His106fs	119.0	0.0		26.0	15.0	NM_018948	B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Del	DEL	ENST00000377482.5	37	CCDS94.1																																																																																			.		0.470	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	
FGF20	26281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	16850701	16850701	+	Silent	SNP	G	G	A	rs376980441		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr8:16850701G>A	ENST00000180166.5	-	3	664	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	172					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTGGAGTTCCGTCTTTGTTAA	0.428																																					p.D172D		.											.	FGF20	522	0			c.C516T						.	G		1,4405	2.1+/-5.4	0,1,2202	182.0	162.0	169.0		516	-2.2	1.0	8		169	0,8600		0,0,4300	no	coding-synonymous	FGF20	NM_019851.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		172/212	16850701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26281	exon3			AGTTCCGTCTTTG	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.516C>T	8.37:g.16850701G>A		114.0	0.0		151.0	51.0	NM_019851	B2RPH5	Silent	SNP	ENST00000180166.5	37	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373895	0.11409	2.27E-4	0.0	ENSG00000078579	ENST00000519941	.	.	.	5.85	-2.23	0.06930	.	.	.	.	.	T	0.62913	0.2467	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59799	-0.7386	4	.	.	.	.	12.901	0.58125	0.5672:0.0:0.4328:0.0	.	.	.	.	W	74	.	.	R	-	1	2	FGF20	16895072	0.614000	0.27017	0.979000	0.43373	0.791000	0.44710	0.002000	0.13061	-0.536000	0.06298	-0.302000	0.09304	CGG	.		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1		
FHOD3	80206	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	34340646	34340647	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr18:34340646_34340647insGT	ENST00000359247.4	+	22	3925_3926	c.3925_3926insGT	c.(3925-3927)gagfs	p.E1309fs	FHOD3_ENST00000257209.4_Frame_Shift_Ins_p.E1326fs|FHOD3_ENST00000445677.1_Frame_Shift_Ins_p.E1288fs|FHOD3_ENST00000590592.1_Frame_Shift_Ins_p.E1509fs|FHOD3_ENST00000592128.1_Frame_Shift_Ins_p.E305fs|FHOD3_ENST00000591635.1_Frame_Shift_Ins_p.E522fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1309					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGACGCGGCTGAGCACGAGAAC	0.653																																					p.E1326fs		.											.	FHOD3	139	0			c.3976_3977insGT						.																																			SO:0001589	frameshift_variant	80206	exon23			GCGGCTGAGCACG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		Exception_encountered	18.37:g.34340646_34340647insGT	ENSP00000352186:p.Glu1309fs	85.0	0.0		156.0	88.0	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Ins	INS	ENST00000359247.4	37																																																																																				.		0.653	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
GAS2	2620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	22777439	22777439	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr11:22777439C>G	ENST00000454584.2	+	7	968	c.663C>G	c.(661-663)ttC>ttG	p.F221L	GAS2_ENST00000433790.1_Missense_Mutation_p.F221L|GAS2_ENST00000278187.3_Missense_Mutation_p.F221L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	221	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CAAACAAGTTCTGTGTGGAGC	0.403																																					p.F221L		.											.	GAS2	652	0			c.C663G						.						81.0	79.0	80.0					11																	22777439		2203	4300	6503	SO:0001583	missense	2620	exon7			CAAGTTCTGTGTG	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.663C>G	11.37:g.22777439C>G	ENSP00000401145:p.Phe221Leu	95.0	0.0		137.0	38.0	NM_177553	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201848	0.58234	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.51817	0.69;0.69;0.69	5.61	4.69	0.59074	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	L	0.50993	1.605	0.54753	D	0.999985	B	0.14805	0.011	B	0.34180	0.177	T	0.39643	-0.9604	10	0.38643	T	0.18	-15.0215	9.6024	0.39612	0.0:0.7924:0.0:0.2076	.	221	O43903	GAS2_HUMAN	L	221	ENSP00000401145:F221L;ENSP00000278187:F221L;ENSP00000396708:F221L	ENSP00000278187:F221L	F	+	3	2	GAS2	22734015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.065000	0.41442	2.639000	0.89480	0.655000	0.94253	TTC	.		0.403	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	
GPR52	9293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	174417683	174417683	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:174417683A>T	ENST00000367685.2	+	1	472	c.434A>T	c.(433-435)aAg>aTg	p.K145M	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GCAATAACCAAGCCTCTTTCC	0.393																																					p.K145M	Ovarian(92;924 1390 1930 16467 40583)	.											.	GPR52	91	0			c.A434T						.						198.0	196.0	197.0					1																	174417683		2203	4300	6503	SO:0001583	missense	9293	exon1			TAACCAAGCCTCT	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.434A>T	1.37:g.174417683A>T	ENSP00000356658:p.Lys145Met	135.0	0.0		410.0	157.0	NM_005684	O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452566	0.63290	.	.	ENSG00000203737	ENST00000367685	T	0.39406	1.08	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.63307	0.2500	M	0.68593	2.085	0.43489	D	0.995729	D	0.89917	1.0	D	0.71656	0.974	T	0.65776	-0.6086	10	0.66056	D	0.02	-11.7665	16.3322	0.83039	1.0:0.0:0.0:0.0	.	145	Q9Y2T5	GPR52_HUMAN	M	145	ENSP00000356658:K145M	ENSP00000356658:K145M	K	+	2	0	GPR52	172684306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.251000	0.74343	0.528000	0.53228	AAG	.		0.393	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
HNRNPCL1	343069	ucsc.edu;bcgsc.ca	37	1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	rs74587302|rs559905244	byFrequency	TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	262						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCCCCTGATCTTCATT	0.498																																					p.Q262R		.											.	HNRNPCL1	68	0			c.A785G						.						143.0	157.0	152.0					1																	12907358		2203	4300	6503	SO:0001583	missense	343069	exon2			TCCCCCTGATCTT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg	93.0	1.0		70.0	10.0	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG	.		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186086707	186086707	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:186086707G>A	ENST00000271588.4	+	77	12029	c.11800G>A	c.(11800-11802)Ggt>Agt	p.G3934S	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3934S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3934	Ig-like C2-type 38.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCAAAAATGGTATAAGACT	0.423																																					p.G3934S		.											.	HMCN1	113	0			c.G11800A						.						105.0	102.0	103.0					1																	186086707		2203	4300	6503	SO:0001583	missense	83872	exon77			AAAAATGGTATAA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11800G>A	1.37:g.186086707G>A	ENSP00000271588:p.Gly3934Ser	104.0	0.0		307.0	101.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810564	0.90707	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.81821	-1.54;-1.54	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097934	0.64402	D	0.000001	D	0.88962	0.6580	M	0.76328	2.33	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.89400	0.3695	10	0.62326	D	0.03	.	14.5656	0.68173	0.0:0.0:0.8539:0.1461	.	3934	Q96RW7	HMCN1_HUMAN	S	3934	ENSP00000271588:G3934S;ENSP00000356462:G3934S	ENSP00000271588:G3934S	G	+	1	0	HMCN1	184353330	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.871000	0.87180	2.655000	0.90218	0.655000	0.94253	GGT	.		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
IFNAR1	3454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	34721747	34721747	+	Silent	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr21:34721747T>C	ENST00000270139.3	+	8	1193	c.1041T>C	c.(1039-1041)caT>caC	p.H347H	IFNAR1_ENST00000442357.2_Silent_p.H347H|IFNAR1_ENST00000416947.2_Silent_p.H278H	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	347	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	ATTCATTCCATATCTATATCG	0.328																																					p.H347H	Esophageal Squamous(73;817 1211 32990 35667 42746)	.											.	IFNAR1	91	0			c.T1041C						.						56.0	56.0	56.0					21																	34721747		2203	4300	6503	SO:0001819	synonymous_variant	3454	exon8			ATTCCATATCTAT		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1041T>C	21.37:g.34721747T>C		106.0	0.0		101.0	45.0	NM_000629	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																			.		0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		
INSRR	3645	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	156828374	156828381	+	Frame_Shift_Del	DEL	GCAGGCAT	GCAGGCAT	-	rs2644597		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	GCAGGCAT	GCAGGCAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:156828374_156828381delGCAGGCAT	ENST00000368195.3	-	1	429_436	c.33_40delATGCCTGC	c.(31-42)gcatgcctgcctfs	p.CLP12fs	NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_5'Flank|NTRK1_ENST00000524377.1_5'Flank|NTRK1_ENST00000368196.3_5'Flank	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	12					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGATCACAGGCAGGCATGCTCCCCAGG	0.62																																					p.11_14del		.											.	INSRR	1403	0			c.33_40del						.																																			SO:0001589	frameshift_variant	3645	exon1			TCACAGGCAGGCA	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.33_40delATGCCTGC	1.37:g.156828374_156828381delGCAGGCAT	ENSP00000357178:p.Cys12fs	135.0	0.0		354.0	28.0	NM_014215	O60724|Q5VZS3	Frame_Shift_Del	DEL	ENST00000368195.3	37	CCDS1160.1																																																																																			.		0.620	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
ITGAL	3683	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	30525112	30525112	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr16:30525112A>G	ENST00000356798.6	+	25	2987	c.2807A>G	c.(2806-2808)tAt>tGt	p.Y936C	ITGAL_ENST00000358164.5_Missense_Mutation_p.Y852C|ITGAL_ENST00000433423.2_Missense_Mutation_p.Y170C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	936					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCCACACTCTATGTCAGTTTC	0.532																																					p.Y936C	NSCLC(110;1462 1641 3311 33990 49495)	.											.	ITGAL	994	0			c.A2807G						.						182.0	143.0	156.0					16																	30525112		2197	4300	6497	SO:0001583	missense	3683	exon25			CACTCTATGTCAG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2807A>G	16.37:g.30525112A>G	ENSP00000349252:p.Tyr936Cys	117.0	2.0		123.0	68.0	NM_002209	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120856	0.56613	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.48522	0.81;0.81;0.81	4.96	4.96	0.65561	Integrin alpha-2 (1);	0.139629	0.33364	N	0.004998	T	0.67249	0.2873	M	0.78637	2.42	0.42303	D	0.992189	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71925	-0.4445	10	0.87932	D	0	.	11.008	0.47646	1.0:0.0:0.0:0.0	.	170;852;936	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	C	936;852;170	ENSP00000349252:Y936C;ENSP00000350886:Y852C;ENSP00000409377:Y170C	ENSP00000349252:Y936C	Y	+	2	0	ITGAL	30432613	0.382000	0.25148	0.010000	0.14722	0.865000	0.49528	4.118000	0.57884	2.107000	0.64212	0.444000	0.29173	TAT	.		0.532	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ITGAM	3684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31282347	31282347	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr16:31282347G>A	ENST00000287497.8	+	6	575	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ITGAM_ENST00000544665.3_Missense_Mutation_p.R167Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	167	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CATGACTTTCGGCGGATGAAG	0.502																																					p.R167Q		.											.	ITGAM	226	0			c.G500A						.						186.0	171.0	176.0					16																	31282347		1934	4142	6076	SO:0001583	missense	3684	exon6			ACTTTCGGCGGAT	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.500G>A	16.37:g.31282347G>A	ENSP00000287497:p.Arg167Gln	151.0	0.0		203.0	63.0	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.743449	0.00675	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.82619	-1.63;-1.63	5.5	-4.45	0.03546	von Willebrand factor, type A (3);	.	.	.	.	T	0.49558	0.1564	N	0.00808	-1.17	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.50617	-0.8807	9	0.10111	T	0.7	.	8.8614	0.35261	0.4229:0.0:0.4706:0.1065	.	167;167	Q4VAK1;P11215	.;ITAM_HUMAN	Q	167	ENSP00000441691:R167Q;ENSP00000287497:R167Q	ENSP00000287497:R167Q	R	+	2	0	ITGAM	31189848	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.176000	0.09811	-0.658000	0.05366	-2.069000	0.00389	CGG	.		0.502	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
KDM7A	80853	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	139876582	139876582	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr7:139876582C>G	ENST00000397560.2	-	1	253	c.156G>C	c.(154-156)atG>atC	p.M52I	JHDM1D_ENST00000006967.5_Missense_Mutation_p.M52I|JHDM1D-AS1_ENST00000566699.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		52					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CGCACTCGATCATGAAGCGGT	0.711																																					p.M52I		.											.	JHDM1D	91	0			c.G156C						.						20.0	27.0	25.0					7																	139876582		2184	4283	6467	SO:0001583	missense	80853	exon1			CTCGATCATGAAG																												ENST00000397560.2:c.156G>C	7.37:g.139876582C>G	ENSP00000380692:p.Met52Ile	49.0	0.0		75.0	29.0	NM_030647	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.013461	0.75161	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.11495	2.77;2.77	2.14	1.14	0.20703	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	T	0.45935	0.1367	H	0.99325	4.515	0.48830	D	0.999716	D	0.64830	0.994	D	0.77004	0.989	T	0.51044	-0.8755	10	0.56958	D	0.05	.	8.1229	0.30982	0.2432:0.7568:0.0:0.0	.	52	Q6ZMT4	KDM7_HUMAN	I	52	ENSP00000380692:M52I;ENSP00000006967:M52I	ENSP00000006967:M52I	M	-	3	0	JHDM1D	139523051	1.000000	0.71417	0.886000	0.34754	0.958000	0.62258	5.473000	0.66774	0.040000	0.15660	0.282000	0.19409	ATG	.		0.711	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
SPIDR	23514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	48309166	48309166	+	Silent	SNP	A	A	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr8:48309166A>T	ENST00000297423.4	+	6	1140	c.756A>T	c.(754-756)tcA>tcT	p.S252S	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.S182S|SPIDR_ENST00000518074.1_Silent_p.S192S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	252	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.S252S(1)									CAGAAAATTCAGCAAAGAAGA	0.313																																					p.S252S		.											.	KIAA0146	68	1	Substitution - coding silent(1)	lung(1)	c.A756T						.						134.0	134.0	134.0					8																	48309166		1799	4069	5868	SO:0001819	synonymous_variant	23514	exon6			AAATTCAGCAAAG	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.756A>T	8.37:g.48309166A>T		100.0	0.0		92.0	38.0	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	CCDS43737.1																																																																																			.		0.313	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394	
MAGEE1	57692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	75649900	75649900	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chrX:75649900G>A	ENST00000361470.2	+	1	1855	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	526	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAAGAATATCGCAACCAGTTT	0.478																																					p.R526H		.											.	MAGEE1	262	0			c.G1577A						.						48.0	46.0	47.0					X																	75649900		2203	4300	6503	SO:0001583	missense	57692	exon1			AATATCGCAACCA	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1577G>A	X.37:g.75649900G>A	ENSP00000354912:p.Arg526His	118.0	0.0		105.0	30.0	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	5.695	0.312811	0.10789	.	.	ENSG00000198934	ENST00000361470	T	0.05382	3.45	2.13	0.28	0.15682	.	.	.	.	.	T	0.12646	0.0307	L	0.39514	1.22	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.19386	-1.0307	9	0.62326	D	0.03	.	4.1776	0.10360	0.4006:0.0:0.5994:0.0	.	526	Q9HCI5	MAGE1_HUMAN	H	526	ENSP00000354912:R526H	ENSP00000354912:R526H	R	+	2	0	MAGEE1	75566304	0.070000	0.21116	0.037000	0.18230	0.001000	0.01503	0.239000	0.18023	-0.044000	0.13491	-0.215000	0.12644	CGC	.		0.478	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
MARCH6	10299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	10391780	10391780	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr5:10391780G>C	ENST00000274140.5	+	7	835	c.703G>C	c.(703-705)Gac>Cac	p.D235H	MARCH6_ENST00000449913.2_Missense_Mutation_p.D187H|MARCH6_ENST00000503788.1_Missense_Mutation_p.D130H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	235					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ggaggaggaggacaatgagga	0.557																																					p.D235H		.											.	MARCH6	501	0			c.G703C						.						129.0	97.0	108.0					5																	10391780		2203	4300	6503	SO:0001583	missense	10299	exon7			GAGGAGGACAATG	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.703G>C	5.37:g.10391780G>C	ENSP00000274140:p.Asp235His	168.0	0.0		246.0	55.0	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838704	0.71373	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.46451	1.89;0.87;1.91	6.02	6.02	0.97574	.	0.307377	0.38381	N	0.001714	T	0.54191	0.1843	M	0.62723	1.935	0.80722	D	1	P;P;B	0.41748	0.526;0.761;0.291	P;B;B	0.47673	0.554;0.365;0.058	T	0.48990	-0.8985	10	0.48119	T	0.1	-4.0438	20.1511	0.98086	0.0:0.0:1.0:0.0	.	130;187;235	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	H	187;130;235	ENSP00000414643:D187H;ENSP00000425930:D130H;ENSP00000274140:D235H	ENSP00000274140:D235H	D	+	1	0	MARCH6	10444780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.135000	0.71696	2.865000	0.98341	0.655000	0.94253	GAC	.		0.557	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
MLXIPL	51085	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	73020062	73020062	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr7:73020062A>C	ENST00000313375.3	-	7	904	c.857T>G	c.(856-858)cTg>cGg	p.L286R	MLXIPL_ENST00000434326.1_Missense_Mutation_p.L193R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L286R|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L286R|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L286R|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L193R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	286					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGTGGCGTCAGGTCCGGCTG	0.657																																					p.L286R		.											.	MLXIPL	91	0			c.T857G						.						61.0	49.0	53.0					7																	73020062		2203	4300	6503	SO:0001583	missense	51085	exon7			GGCGTCAGGTCCG	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.857T>G	7.37:g.73020062A>C	ENSP00000320886:p.Leu286Arg	134.0	1.0		175.0	84.0	NM_032954	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127831	0.37533	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.63913	-0.07;0.01;-0.06;0.01;0.17;0.13	3.97	3.97	0.46021	.	0.000000	0.56097	D	0.000029	T	0.76248	0.3961	M	0.78456	2.415	0.24419	N	0.994623	D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.996;0.998;0.996;0.998;0.998;0.998	T	0.67114	-0.5752	10	0.87932	D	0	-14.4296	9.1507	0.36962	1.0:0.0:0.0:0.0	.	193;193;286;286;286;286	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	R	286;286;286;286;193;193	ENSP00000412330:L286R;ENSP00000406296:L286R;ENSP00000320886:L286R;ENSP00000346629:L286R;ENSP00000378616:L193R;ENSP00000392636:L193R	ENSP00000320886:L286R	L	-	2	0	MLXIPL	72657998	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	6.271000	0.72569	1.672000	0.50884	0.172000	0.16884	CTG	.		0.657	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951	
MYH8	4626	ucsc.edu;bcgsc.ca	37	17	10315757	10315757	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr17:10315757T>A	ENST00000403437.2	-	14	1440	c.1346A>T	c.(1345-1347)cAg>cTg	p.Q449L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	449	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTGTCCAGCTGCTGGTTGAT	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.Q449L		.											.	MYH8	101	0			c.A1346T						.						214.0	203.0	206.0					17																	10315757		2203	4297	6500	SO:0001583	missense	4626	exon14	Familial Cancer Database	Carney Complex Variant	TCCAGCTGCTGGT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1346A>T	17.37:g.10315757T>A	ENSP00000384330:p.Gln449Leu	395.0	2.0		457.0	184.0	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611164	0.46631	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87179	-2.22	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.000000	0.39615	U	0.001319	D	0.84224	0.5425	L	0.51422	1.61	0.34807	D	0.737281	B	0.18968	0.032	B	0.19946	0.027	D	0.86691	0.1923	10	0.87932	D	0	.	14.1552	0.65413	0.0:0.0:0.0:1.0	.	449	P13535	MYH8_HUMAN	L	449	ENSP00000384330:Q449L	ENSP00000252173:Q449L	Q	-	2	0	MYH8	10256482	0.862000	0.29867	1.000000	0.80357	0.983000	0.72400	0.845000	0.27668	1.937000	0.56155	0.528000	0.53228	CAG	.		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYOM2	9172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	2054129	2054129	+	Silent	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr8:2054129T>C	ENST00000262113.4	+	22	2973	c.2832T>C	c.(2830-2832)tgT>tgC	p.C944C	MYOM2_ENST00000523438.1_Silent_p.C369C	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	944	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCACCTGGTGTAAATCCTACG	0.473																																					p.C944C		.											.	MYOM2	95	0			c.T2832C						.						127.0	123.0	124.0					8																	2054129		2203	4300	6503	SO:0001819	synonymous_variant	9172	exon22			CTGGTGTAAATCC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2832T>C	8.37:g.2054129T>C		128.0	0.0		172.0	105.0	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			.		0.473	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	20083871	20083871	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr11:20083871C>T	ENST00000396087.3	+	22	5117	c.5018C>T	c.(5017-5019)tCc>tTc	p.S1673F	NAV2_ENST00000527559.2_Missense_Mutation_p.S1602F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1604F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1553F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1617F|NAV2_ENST00000533917.1_Missense_Mutation_p.S681F|NAV2_ENST00000311043.8_Missense_Mutation_p.S681F|NAV2_ENST00000396085.1_Missense_Mutation_p.S1617F	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1673	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCTCACTCTCCTTGGTTTCC	0.403																																					p.S1673F		.											.	NAV2	96	0			c.C5018T						.						123.0	115.0	117.0					11																	20083871		2203	4300	6503	SO:0001583	missense	89797	exon22			CACTCTCCTTGGT	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5018C>T	11.37:g.20083871C>T	ENSP00000379396:p.Ser1673Phe	22.0	0.0		41.0	22.0	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765749	0.90020	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.61040	0.14;0.27;0.21;0.34;0.25;0.25;1.81;0.38;1.81	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000010	T	0.77191	0.4094	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;0.996;0.997;1.0;0.999	T	0.76329	-0.2999	9	.	.	.	.	19.7522	0.96271	0.0:1.0:0.0:0.0	.	1617;1673;681;666;1617;1553	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	F	1553;1617;1617;1673;1602;1604;681;666;681;666	ENSP00000353871:S1553F;ENSP00000379394:S1617F;ENSP00000309577:S1617F;ENSP00000379396:S1673F;ENSP00000435395:S1602F;ENSP00000443489:S1604F;ENSP00000437316:S681F;ENSP00000437136:S666F;ENSP00000312169:S681F	.	S	+	2	0	NAV2	20040447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.041000	0.76558	2.730000	0.93505	0.644000	0.83932	TCC	.		0.403	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NPAS2	4862	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	101580582	101580590	+	In_Frame_Del	DEL	GGAAAGGAG	GGAAAGGAG	-			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	GGAAAGGAG	GGAAAGGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr2:101580582_101580590delGGAAAGGAG	ENST00000335681.5	+	8	946_954	c.661_669delGGAAAGGAG	c.(661-669)ggaaaggagdel	p.GKE221del	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_In_Frame_Del_p.GKE286del	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	221					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGCCACTAGGAAAGGAGGTTTGCTTCA	0.512																																					p.221_223del		.											.	NPAS2	94	0			c.661_669del						.																																			SO:0001651	inframe_deletion	4862	exon8			CCACTAGGAAAGG	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.661_669delGGAAAGGAG	2.37:g.101580582_101580590delGGAAAGGAG	ENSP00000338283:p.Gly221_Glu223del	88.0	0.0		94.0	24.0	NM_002518	Q4ZFV9|Q53SQ3|Q86V96|Q99629	In_Frame_Del	DEL	ENST00000335681.5	37	CCDS2048.1																																																																																			.		0.512	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		
OR10C1	442194	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	29408254	29408254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr6:29408254delG	ENST00000444197.2	+	1	1172	c.462delG	c.(460-462)gtgfs	p.V154fs	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGTGCTGGTGGGGCTGGGCC	0.617																																					p.V154fs		.											.	OR10C1	22	0			c.462delG						.						96.0	109.0	104.0					6																	29408254		1510	2709	4219	SO:0001589	frameshift_variant	442194	exon1			GCTGGTGGGGCTG		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.462delG	6.37:g.29408254delG	ENSP00000419119:p.Val154fs	98.0	0.0		172.0	52.0	NM_013941	Q5SUN7|Q96R18	Frame_Shift_Del	DEL	ENST00000444197.2	37	CCDS34364.1																																																																																			.		0.617	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
PGLYRP3	114771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	153277442	153277442	+	Silent	SNP	G	G	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:153277442G>T	ENST00000290722.1	-	3	409	c.357C>A	c.(355-357)gcC>gcA	p.A119A		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	119					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCAAAGAAGGCGATGCCCA	0.537																																					p.A119A		.											.	PGLYRP3	94	0			c.C357A						.						155.0	130.0	138.0					1																	153277442		2203	4300	6503	SO:0001819	synonymous_variant	114771	exon3			AAAGAAGGCGATG	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.357C>A	1.37:g.153277442G>T		198.0	0.0		590.0	113.0	NM_052891	A1A4U8|Q5SY65	Silent	SNP	ENST00000290722.1	37	CCDS1035.1																																																																																			.		0.537	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891	
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	47876604	47876604	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr7:47876604T>C	ENST00000289672.2	-	37	5908	c.5858A>G	c.(5857-5859)cAc>cGc	p.H1953R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1953					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCGCGGCGTGTGCAGGTAGCG	0.587																																					p.H1953R		.											.	PKD1L1	145	0			c.A5858G						.						63.0	56.0	58.0					7																	47876604		2203	4300	6503	SO:0001583	missense	168507	exon37			GGCGTGTGCAGGT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5858A>G	7.37:g.47876604T>C	ENSP00000289672:p.His1953Arg	291.0	0.0		373.0	84.0	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	7.390	0.630661	0.14322	.	.	ENSG00000158683	ENST00000289672	T	0.09817	2.94	5.1	1.38	0.22167	.	0.352176	0.24945	N	0.034351	T	0.03136	0.0092	N	0.11560	0.145	0.28076	N	0.932385	P	0.40660	0.726	B	0.33890	0.172	T	0.35968	-0.9767	10	0.02654	T	1	-23.5721	5.0943	0.14725	0.0:0.1689:0.1544:0.6767	.	1953	Q8TDX9	PK1L1_HUMAN	R	1953	ENSP00000289672:H1953R	ENSP00000289672:H1953R	H	-	2	0	PKD1L1	47843129	1.000000	0.71417	0.051000	0.19133	0.776000	0.43924	1.101000	0.31037	-0.004000	0.14419	0.533000	0.62120	CAC	.		0.587	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
POM121L12	285877	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	53103948	53103948	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr7:53103948C>G	ENST00000408890.4	+	1	600	c.584C>G	c.(583-585)cCg>cGg	p.P195R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	195										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCGACGGGCCGTTGTGGTTC	0.687																																					p.P195R		.											.	.	.	0			c.C584G						.						48.0	56.0	53.0					7																	53103948		1974	4144	6118	SO:0001583	missense	285877	exon1			ACGGGCCGTTGTG		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.584C>G	7.37:g.53103948C>G	ENSP00000386133:p.Pro195Arg	43.0	0.0		71.0	33.0	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533585	0.27387	.	.	ENSG00000221900	ENST00000408890	T	0.12984	2.63	2.21	0.295	0.15752	.	.	.	.	.	T	0.22627	0.0546	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.12167	-1.0558	9	0.54805	T	0.06	.	2.6712	0.05067	0.2815:0.5508:0.0:0.1677	.	195	Q8N7R1	P1L12_HUMAN	R	195	ENSP00000386133:P195R	ENSP00000386133:P195R	P	+	2	0	POM121L12	53071442	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.515000	0.22801	0.057000	0.16193	0.561000	0.74099	CCG	.		0.687	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
PVRL4	81607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161044015	161044015	+	Silent	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:161044015G>A	ENST00000368012.3	-	6	1451	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	PVRL4_ENST00000453926.2_Silent_p.T117T|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	383					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACTATTTCTGGGTCATCTGCT	0.577																																					p.T383T	NSCLC(76;1160 1387 14476 16172 29359)	.											.	PVRL4	92	0			c.C1149T						.						120.0	115.0	117.0					1																	161044015		2203	4300	6503	SO:0001819	synonymous_variant	81607	exon6			TTTCTGGGTCATC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1149C>T	1.37:g.161044015G>A		204.0	0.0		620.0	126.0	NM_030916	B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	37	CCDS1216.1																																																																																			.		0.577	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
LRRC14	9684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	8	145741755	145741755	+	5'Flank	SNP	C	C	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr8:145741755C>G	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.G250R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGGGGCTCCCCACACGGATG	0.642																																					p.G250R		.											.	RECQL4	1083	0			c.G748C						.						18.0	20.0	19.0					8																	145741755		2016	4173	6189	SO:0001631	upstream_gene_variant	9401	exon5			GGCTCCCCACACG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741755C>G	Exception_encountered	22.0	0.0		41.0	13.0	NM_004260	A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			.		0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
ROBO1	6091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	79174651	79174651	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr3:79174651G>A	ENST00000464233.1	-	3	240	c.127C>T	c.(127-129)Cca>Tca	p.P43S		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGGGGATTGGCGTCCCGTGG	0.507																																					p.P43S		.											.	ROBO1	67	0			c.C127T						.						146.0	143.0	144.0					3																	79174651		2006	4172	6178	SO:0001583	missense	6091	exon3			GGATTGGCGTCCC	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.127C>T	3.37:g.79174651G>A	ENSP00000420321:p.Pro43Ser	269.0	0.0		334.0	149.0	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971632	0.34754	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	T	0.59502	0.26	5.43	5.43	0.79202	.	0.357864	0.26159	N	0.025988	T	0.35740	0.0942	N	0.08118	0	0.80722	D	1	B	0.30793	0.295	B	0.26310	0.068	T	0.25012	-1.0144	9	.	.	.	.	15.1257	0.72481	0.0:0.141:0.859:0.0	.	43	Q9Y6N7	ROBO1_HUMAN	S	43	ENSP00000420321:P43S	.	P	-	1	0	ROBO1	79257341	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.108000	0.64609	2.699000	0.92147	0.655000	0.94253	CCA	.		0.507	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
SEMA6C	10500	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	151110260	151110260	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:151110260T>C	ENST00000341697.3	-	10	2374	c.683A>G	c.(682-684)cAg>cGg	p.Q228R				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	228	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCAAGGCCTGGACAAAGTG	0.562																																					p.Q228R		.											.	SEMA6C	92	0			c.A683G						.						116.0	98.0	104.0					1																	151110260		2203	4300	6503	SO:0001583	missense	10500	exon10			AAGGCCTGGACAA	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.683A>G	1.37:g.151110260T>C	ENSP00000344148:p.Gln228Arg	186.0	0.0		552.0	29.0	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276700	0.59758	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.48	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.209202	0.49305	D	0.000146	T	0.05731	0.0150	N	0.16656	0.425	0.25473	N	0.987806	P;B;B;B	0.41710	0.76;0.001;0.036;0.0	B;B;B;B	0.37451	0.25;0.0;0.035;0.0	T	0.10268	-1.0637	10	0.66056	D	0.02	.	11.7802	0.52010	0.0:0.0:0.0:1.0	.	228;188;228;228	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	R	228;188;228;228;228	ENSP00000357910:Q228R;ENSP00000357908:Q188R;ENSP00000357909:Q228R;ENSP00000344148:Q228R	ENSP00000344148:Q228R	Q	-	2	0	SEMA6C	149376884	1.000000	0.71417	0.953000	0.39169	0.965000	0.64279	7.735000	0.84939	1.884000	0.54569	0.459000	0.35465	CAG	.		0.562	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158622406	158622406	+	Missense_Mutation	SNP	G	G	A	rs372281474		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:158622406G>A	ENST00000368147.4	-	23	3406	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1076					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATAGACGACGTCTGCGTTCT	0.438																																					p.R1076C		.											.	SPTA1	142	0			c.C3226T						.						108.0	99.0	102.0					1																	158622406		1887	4112	5999	SO:0001583	missense	6708	exon23			GACGACGTCTGCG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3226C>T	1.37:g.158622406G>A	ENSP00000357129:p.Arg1076Cys	127.0	0.0		300.0	106.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339932	0.41398	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68025	-0.3;-0.3	5.3	4.39	0.52855	.	0.000000	0.32703	N	0.005759	T	0.65481	0.2695	L	0.54323	1.7	0.49389	D	0.999783	D	0.76494	0.999	D	0.63703	0.917	T	0.70733	-0.4791	10	0.72032	D	0.01	.	7.9373	0.29937	0.0843:0.2521:0.6635:0.0	.	1076	P02549	SPTA1_HUMAN	C	1076	ENSP00000357130:R1076C;ENSP00000357129:R1076C	ENSP00000357129:R1076C	R	-	1	0	SPTA1	156889030	1.000000	0.71417	0.251000	0.24312	0.016000	0.09150	3.757000	0.55212	1.479000	0.48272	0.655000	0.94253	CGT	.		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158624516	158624516	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:158624516T>C	ENST00000368147.4	-	21	3101	c.2921A>G	c.(2920-2922)gAg>gGg	p.E974G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	974					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAACTCCCTCCACTGGTGC	0.517																																					p.E974G		.											.	SPTA1	142	0			c.A2921G						.						64.0	63.0	63.0					1																	158624516		1953	4157	6110	SO:0001583	missense	6708	exon21			ACTCCCTCCACTG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2921A>G	1.37:g.158624516T>C	ENSP00000357129:p.Glu974Gly	79.0	0.0		227.0	35.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699723	0.30142	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55588	0.68;0.51	5.31	4.2	0.49525	Src homology-3 domain (1);	0.261227	0.20064	N	0.100008	T	0.21841	0.0526	L	0.28274	0.84	0.36718	D	0.881012	B	0.02656	0.0	B	0.09377	0.004	T	0.05954	-1.0854	10	0.48119	T	0.1	.	9.9468	0.41613	0.0:0.0796:0.0:0.9204	.	974	P02549	SPTA1_HUMAN	G	974	ENSP00000357130:E974G;ENSP00000357129:E974G	ENSP00000357129:E974G	E	-	2	0	SPTA1	156891140	1.000000	0.71417	0.614000	0.29051	0.674000	0.39518	5.375000	0.66173	1.061000	0.40601	0.482000	0.46254	GAG	.		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SV2C	22987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	75427868	75427868	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr5:75427868G>T	ENST00000502798.2	+	2	735	c.293G>T	c.(292-294)aGt>aTt	p.S98I	SV2C_ENST00000322285.7_Missense_Mutation_p.S98I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	98					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCATCCCCAGTATGAACCAA	0.547																																					p.S98I		.											.	SV2C	91	0			c.G293T						.						78.0	82.0	81.0					5																	75427868		2110	4255	6365	SO:0001583	missense	22987	exon2			TCCCCAGTATGAA	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.293G>T	5.37:g.75427868G>T	ENSP00000423541:p.Ser98Ile	151.0	0.0		192.0	80.0	NM_014979	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917387	0.33815	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.30448	1.53;1.53	5.76	1.29	0.21616	Major facilitator superfamily domain, general substrate transporter (1);	0.396707	0.30630	N	0.009208	T	0.21347	0.0514	L	0.36672	1.1	0.22240	N	0.99927	B	0.18013	0.025	B	0.21708	0.036	T	0.18335	-1.0340	10	0.56958	D	0.05	-6.8884	6.6107	0.22749	0.2254:0.27:0.5047:0.0	.	98	Q496J9	SV2C_HUMAN	I	98	ENSP00000423541:S98I;ENSP00000316983:S98I	ENSP00000316983:S98I	S	+	2	0	SV2C	75463624	0.000000	0.05858	0.310000	0.25168	0.873000	0.50193	0.566000	0.23593	0.319000	0.23209	0.655000	0.94253	AGT	.		0.547	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
THSD7A	221981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	11633070	11633070	+	Missense_Mutation	SNP	C	C	T	rs558393471		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr7:11633070C>T	ENST00000423059.4	-	3	1333	c.1082G>A	c.(1081-1083)tGc>tAc	p.C361Y		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	361	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGAAACCTGGCACTCTTTGGT	0.507										HNSCC(18;0.044)																											p.C361Y		.											.	THSD7A	71	0			c.G1082A						.						110.0	108.0	109.0					7																	11633070		1936	4141	6077	SO:0001583	missense	221981	exon3			ACCTGGCACTCTT		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1082G>A	7.37:g.11633070C>T	ENSP00000406482:p.Cys361Tyr	128.0	0.0		136.0	61.0	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571129	0.86542	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.22336	1.96	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77316	-0.2633	10	0.52906	T	0.07	.	18.8995	0.92437	0.0:1.0:0.0:0.0	.	361	Q9UPZ6	THS7A_HUMAN	Y	361	ENSP00000406482:C361Y	ENSP00000262042:C361Y	C	-	2	0	THSD7A	11599595	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.814000	0.86154	2.458000	0.83093	0.655000	0.94253	TGC	.		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
TP53BP2	7159	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	223968572	223968572	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr1:223968572G>C	ENST00000343537.7	-	18	3679	c.3388C>G	c.(3388-3390)Caa>Gaa	p.Q1130E	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.Q1001E|TP53BP2_ENST00000391879.2_Missense_Mutation_p.Q363E	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1124					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AAGCTCCTTTGTCTTGGTTTA	0.303																																					p.Q1130E		.											.	TP53BP2	229	0			c.C3388G						.						91.0	92.0	92.0					1																	223968572		2203	4300	6503	SO:0001583	missense	7159	exon18			TCCTTTGTCTTGG	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3388C>G	1.37:g.223968572G>C	ENSP00000341957:p.Gln1130Glu	61.0	0.0		83.0	6.0	NM_001031685	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171968	0.94807	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.56611	0.45;0.63;0.45	5.48	5.48	0.80851	Src homology-3 domain (1);	0.053329	0.85682	D	0.000000	T	0.73233	0.3561	M	0.70595	2.14	0.80722	D	1	D;D	0.61080	0.989;0.98	D;D	0.72338	0.977;0.966	T	0.74836	-0.3529	10	0.72032	D	0.01	.	19.7152	0.96115	0.0:0.0:1.0:0.0	.	1130;1124	B4DG66;Q13625	.;ASPP2_HUMAN	E	1001;1130;363	ENSP00000375750:Q1001E;ENSP00000341957:Q1130E;ENSP00000375751:Q363E	ENSP00000341957:Q1130E	Q	-	1	0	TP53BP2	222035195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.733000	0.93635	0.591000	0.81541	CAA	.		0.303	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
TSEN34	79042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54696036	54696036	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:54696036A>G	ENST00000396383.1	+	4	868	c.557A>G	c.(556-558)cAg>cGg	p.Q186R	MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000338624.6_5'Flank|TSEN34_ENST00000302937.4_Missense_Mutation_p.Q186R|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000474910.1_5'Flank|TSEN34_ENST00000429671.2_Missense_Mutation_p.Q186R|TSEN34_ENST00000396388.2_Missense_Mutation_p.Q186R			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	186					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCTTGTCCAGCTGGCCACT	0.647																																					p.Q186R	Esophageal Squamous(37;841 964 4869 42824)	.											.	TSEN34	90	0			c.A557G						.						65.0	68.0	67.0					19																	54696036		1877	4093	5970	SO:0001583	missense	79042	exon4			TTGTCCAGCTGGC	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.557A>G	19.37:g.54696036A>G	ENSP00000379667:p.Gln186Arg	206.0	1.0		259.0	126.0	NM_024075	A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477569	0.84640	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.66995	-0.24;-0.13;-0.11;-0.13;-0.11;-0.11	4.56	4.56	0.56223	.	0.057122	0.64402	D	0.000001	T	0.75102	0.3804	L	0.59436	1.845	0.42751	D	0.993776	D;D	0.76494	0.999;0.999	D;D	0.66196	0.922;0.942	T	0.74281	-0.3716	10	0.34782	T	0.22	.	11.7599	0.51896	1.0:0.0:0.0:0.0	.	186;186	E7EQB3;Q9BSV6	.;SEN34_HUMAN	R	186;189;186;186;186;186	ENSP00000400743:Q186R;ENSP00000408689:Q189R;ENSP00000305524:Q186R;ENSP00000397402:Q186R;ENSP00000379667:Q186R;ENSP00000379671:Q186R	ENSP00000305524:Q186R	Q	+	2	0	TSEN34	59387848	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.334000	0.79224	1.842000	0.53543	0.459000	0.35465	CAG	.		0.647	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075	
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	54914531	54914531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr15:54914531delC	ENST00000260323.11	+	30	6113	c.6113delC	c.(6112-6114)tccfs	p.S2039fs	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000545554.1_Frame_Shift_Del_p.S2039fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.S2037fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2039					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGGTCGTTCCTCCAAAGAT	0.403																																					p.S2038fs		.											.	UNC13C	51	0			c.6113delC						.						110.0	112.0	111.0					15																	54914531		1972	4165	6137	SO:0001589	frameshift_variant	440279	exon29			GTCGTTCCTCCAA	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6113delC	15.37:g.54914531delC	ENSP00000260323:p.Ser2039fs	92.0	0.0		110.0	43.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	CCDS45264.1																																																																																			.		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	85724505	85724505	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr4:85724505G>A	ENST00000295888.4	-	16	2952	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	WDFY3_ENST00000512267.1_5'UTR|WDFY3_ENST00000322366.6_Missense_Mutation_p.P849S|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	849					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGCTCCAGGATGAATGATG	0.473																																					p.P849S		.											.	WDFY3	93	0			c.C2545T						.						84.0	77.0	79.0					4																	85724505		2203	4300	6503	SO:0001583	missense	23001	exon16			CTCCAGGATGAAT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2545C>T	4.37:g.85724505G>A	ENSP00000295888:p.Pro849Ser	345.0	0.0		233.0	170.0	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789935	0.90367	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.39406	1.08;1.08	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.66378	2.025	0.80722	D	1	D	0.54772	0.968	P	0.46885	0.53	T	0.56450	-0.7977	10	0.62326	D	0.03	.	19.9403	0.97159	0.0:0.0:1.0:0.0	.	849	Q8IZQ1	WDFY3_HUMAN	S	849	ENSP00000318466:P849S;ENSP00000295888:P849S	ENSP00000295888:P849S	P	-	1	0	WDFY3	85943529	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	7.344000	0.79328	2.712000	0.92718	0.650000	0.86243	CCT	.		0.473	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDR17	116966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	177058704	177058704	+	Missense_Mutation	SNP	G	G	A	rs200199041		TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr4:177058704G>A	ENST00000280190.4	+	10	1529	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	WDR17_ENST00000508596.1_Missense_Mutation_p.R434Q|WDR17_ENST00000393643.2_Missense_Mutation_p.R434Q|WDR17_ENST00000507824.2_Missense_Mutation_p.R441Q			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	458										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGAACTTCCCGAAATGGTGCT	0.279																																					p.R458Q		.											.	WDR17	95	0			c.G1373A						.	G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	76.0	80.0	79.0		1301,1373	2.2	1.0	4		79	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	WDR17	NM_181265.3,NM_170710.4	43,43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	434/1284,458/1323	177058704	1,12997	2202	4297	6499	SO:0001583	missense	116966	exon10			CTTCCCGAAATGG	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1373G>A	4.37:g.177058704G>A	ENSP00000280190:p.Arg458Gln	61.0	0.0		32.0	26.0	NM_170710	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448909	0.43531	0.0	1.16E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.04758	3.57;3.56;3.57	5.08	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.216830	0.36268	N	0.002682	T	0.03434	0.0099	N	0.24115	0.695	0.39331	D	0.96541	B;B	0.20368	0.011;0.044	B;B	0.12156	0.007;0.007	T	0.49679	-0.8914	10	0.32370	T	0.25	-3.5877	8.1747	0.31275	0.3317:0.0:0.6683:0.0	.	434;458	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Q	434;434;458;441	ENSP00000422763:R434Q;ENSP00000377258:R434Q;ENSP00000280190:R458Q	ENSP00000280190:R458Q	R	+	2	0	WDR17	177295698	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.545000	0.36169	0.193000	0.20303	-0.140000	0.14226	CGA	.		0.279	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
ZNF443	10224	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	12542333	12542333	+	Missense_Mutation	SNP	G	G	A	rs143162114	byFrequency	TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:12542333G>A	ENST00000301547.5	-	4	850	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	218					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCAGTGTGCGTTCTTTCATG	0.398													.|||	2	0.000399361	0.0015	0.0	5008	,	,		22862	0.0		0.0	False		,,,				2504	0.0				p.T218M		.											.	ZNF443	91	0			c.C653T						.	G	MET/THR	1,4405	4.2+/-10.8	0,1,2202	123.0	124.0	124.0		653	0.3	0.0	19	dbSNP_134	124	9,8589	7.1+/-27.0	0,9,4290	no	missense	ZNF443	NM_005815.4	81	0,10,6492	AA,AG,GG		0.1047,0.0227,0.0769	benign	218/672	12542333	10,12994	2203	4299	6502	SO:0001583	missense	10224	exon4			GTGTGCGTTCTTT	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.653C>T	19.37:g.12542333G>A	ENSP00000301547:p.Thr218Met	201.0	0.0		308.0	19.0	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324163	0.41197	2.27E-4	0.001047	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.13089	2.62	1.37	0.279	0.15677	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	M	0.70787	2.145	0.20196	N	0.999923	B	0.30851	0.297	B	0.34242	0.178	T	0.27938	-1.0059	9	0.59425	D	0.04	.	4.4101	0.11429	0.5599:0.0:0.4401:0.0	.	218	Q9Y2A4	ZN443_HUMAN	M	218	ENSP00000301547:T218M	ENSP00000301547:T218M	T	-	2	0	ZNF443	12403333	0.000000	0.05858	0.020000	0.16555	0.650000	0.38633	-2.246000	0.01191	0.155000	0.19261	0.461000	0.40582	ACG	G|0.999;A|0.001		0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF431	170959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	21366647	21366647	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:21366647G>A	ENST00000311048.7	+	5	1685	c.1541G>A	c.(1540-1542)tGt>tAt	p.C514Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	514					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTACAAATGTGAAGAATGT	0.343																																					p.C514Y		.											.	ZNF431	514	0			c.G1541A						.						53.0	59.0	57.0					19																	21366647		2203	4298	6501	SO:0001583	missense	170959	exon5			ACAAATGTGAAGA	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1541G>A	19.37:g.21366647G>A	ENSP00000308578:p.Cys514Tyr	37.0	0.0		78.0	26.0	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	18.54	3.645636	0.67358	.	.	ENSG00000196705	ENST00000311048	D	0.85088	-1.94	0.421	0.421	0.16451	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93452	0.7911	H	0.96175	3.78	0.30199	N	0.798821	D	0.89917	1.0	D	0.97110	1.0	D	0.87170	0.2220	9	0.54805	T	0.06	.	8.3187	0.32115	0.0:0.0:1.0:0.0	.	514	Q8TF32	ZN431_HUMAN	Y	514	ENSP00000308578:C514Y	ENSP00000308578:C514Y	C	+	2	0	ZNF431	21158487	0.995000	0.38212	0.866000	0.34008	0.846000	0.48090	4.672000	0.61597	0.452000	0.26830	0.455000	0.32223	TGT	.		0.343	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF461	92283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	37130125	37130125	+	Silent	SNP	T	T	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:37130125T>A	ENST00000588268.1	-	6	1349	c.1122A>T	c.(1120-1122)atA>atT	p.I374I	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.I351I	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTCTGATGTATAGTAAGAT	0.408																																					p.I374I		.											.	.	.	0			c.A1122T						.						80.0	88.0	86.0					19																	37130125		2197	4296	6493	SO:0001819	synonymous_variant	92283	exon6			CTGATGTATAGTA	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1122A>T	19.37:g.37130125T>A		81.0	0.0		90.0	38.0	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	CCDS54257.1																																																																																			.		0.408	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
ZNF585A	199704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	37642633	37642633	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A4NN-01A-11D-A28X-10	TCGA-DD-A4NN-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	472abc15-0124-4700-8026-8eed68cbcde9	7d51dd41-e8be-488c-bbfe-66156768782f	g.chr19:37642633C>A	ENST00000356958.4	-	5	2426	c.2168G>T	c.(2167-2169)tGt>tTt	p.C723F	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.C668F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.C668F|ZNF585A_ENST00000355533.2_Missense_Mutation_p.C360F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTCCCACACTCAGCACA	0.463																																					p.C668F		.											.	ZNF585A	92	0			c.G2003T						.						169.0	136.0	147.0					19																	37642633		2203	4300	6503	SO:0001583	missense	199704	exon6			TTCCCACACTCAG	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.2168G>T	19.37:g.37642633C>A	ENSP00000349440:p.Cys723Phe	226.0	0.0		358.0	130.0	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	18.56	3.651114	0.67472	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001059	D	0.91616	0.7351	.	.	.	0.49389	D	0.999788	D	0.89917	1.0	D	0.91635	0.999	D	0.92766	0.6228	9	0.87932	D	0	.	13.3213	0.60434	0.0:1.0:0.0:0.0	.	723	Q6P3V2	Z585A_HUMAN	F	723;668;668;360	ENSP00000349440:C723F;ENSP00000292841:C668F;ENSP00000375998:C668F;ENSP00000347724:C360F	ENSP00000292841:C668F	C	-	2	0	ZNF585A	42334473	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.336000	0.52113	1.697000	0.51169	0.655000	0.94253	TGT	.		0.463	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
