#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA9	10350	genome.wustl.edu	37	17	67029972	67029972	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr17:67029972C>A	ENST00000340001.4	-	9	1382	c.1171G>T	c.(1171-1173)Gat>Tat	p.D391Y	ABCA9_ENST00000453985.2_Missense_Mutation_p.D391Y|ABCA9_ENST00000370732.2_Missense_Mutation_p.D391Y	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	391					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGTGAAGAATCCAAGTGGGCA	0.284																																						dbGAP											0													103.0	114.0	110.0					17																	67029972		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1171G>T	17.37:g.67029972C>A	ENSP00000342216:p.Asp391Tyr		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D391Y	ENST00000340001.4	37	c.1171	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420213	0.25552	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88586	-2.26;-2.4	4.32	-3.52	0.04682	.	1.060630	0.07493	N	0.906012	D	0.84597	0.5507	L	0.56124	1.755	0.09310	N	1	B;B	0.23650	0.089;0.015	B;B	0.30316	0.093;0.114	T	0.71978	-0.4429	10	0.54805	T	0.06	.	6.024	0.19644	0.0:0.485:0.1237:0.3914	.	391;391	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	Y	391;374;391;386	ENSP00000342216:D391Y;ENSP00000359767:D391Y	ENSP00000342216:D391Y	D	-	1	0	ABCA9	64541567	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-0.173000	0.09854	-0.948000	0.03668	-0.331000	0.08364	GAT	ABCA9	-	NULL	ENSG00000154258		0.284	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	58	0.00	0	C	NM_172386		67029972	67029972	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	88	22.81	26	SNP	0.003	A
C14orf105	55195	genome.wustl.edu	37	14	57949847	57949847	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr14:57949847G>T	ENST00000216445.3	-	3	465	c.329C>A	c.(328-330)cCa>cAa	p.P110Q	C14orf105_ENST00000534126.1_Missense_Mutation_p.P110Q|C14orf105_ENST00000526336.1_3'UTR|C14orf105_ENST00000422976.2_Missense_Mutation_p.P110Q	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	110										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AATTACTCGTGGCAAGTCAAT	0.458																																						dbGAP											0													142.0	123.0	129.0					14																	57949847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.329C>A	14.37:g.57949847G>T	ENSP00000216445:p.Pro110Gln		Q53G04	Missense_Mutation	SNP	NULL	p.P110Q	ENST00000216445.3	37	c.329	CCDS9730.1	14	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316182	0.60524	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	T;T;T	0.70986	-0.53;-0.53;-0.53	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000008	D	0.82291	0.5005	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	D	0.83905	0.0292	10	0.72032	D	0.01	-11.5355	13.4812	0.61336	0.0:0.0:1.0:0.0	.	110;110;110;110;110	B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.;.;.;.;CN105_HUMAN	Q	110	ENSP00000216445:P110Q;ENSP00000392368:P110Q;ENSP00000434003:P110Q	ENSP00000216445:P110Q	P	-	2	0	C14orf105	57019600	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.964000	0.63701	2.535000	0.85469	0.650000	0.86243	CCA	C14orf105	-	NULL	ENSG00000100557		0.458	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf105	HGNC	protein_coding	OTTHUMT00000276921.2	80	0.00	0	G	NM_018168		57949847	57949847	-1	no_errors	ENST00000216445	ensembl	human	known	69_37n	missense	91	26.61	33	SNP	1.000	T
CD48	962	genome.wustl.edu	37	1	160654790	160654790	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr1:160654790C>T	ENST00000368046.3	-	2	359	c.272G>A	c.(271-273)aGt>aAt	p.S91N	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.S91N|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	91	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGTGCGCCACTCTGAGGATC	0.418																																						dbGAP											0													159.0	159.0	159.0					1																	160654790		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.272G>A	1.37:g.160654790C>T	ENSP00000357025:p.Ser91Asn		Q5U055|Q8MGR0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S91N	ENST00000368046.3	37	c.272	CCDS1208.1	1	.	.	.	.	.	.	.	.	.	.	C	8.606	0.888044	0.17540	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.19669	2.13;2.13	3.28	-5.55	0.02536	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.634820	0.03412	N	0.204914	T	0.02767	0.0083	N	0.17082	0.46	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.13407	0.004;0.009;0.008	T	0.29366	-1.0014	10	0.15952	T	0.53	-3.3015	5.9349	0.19161	0.0:0.3125:0.1362:0.5512	.	91;91;91	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	N	91	ENSP00000357025:S91N;ENSP00000357024:S91N	ENSP00000357024:S91N	S	-	2	0	CD48	158921414	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.064000	0.01387	-1.319000	0.02286	0.462000	0.41574	AGT	CD48	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000117091		0.418	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	HGNC	protein_coding	OTTHUMT00000060471.1	46	0.00	0	C	NM_001778		160654790	160654790	-1	no_errors	ENST00000368046	ensembl	human	known	69_37n	missense	95	36.67	55	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68844244	68844244	+	Splice_Site	SNP	G	G	A			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr16:68844244G>A	ENST00000261769.5	+	6	1023	c.832G>A	c.(832-834)Gga>Aga	p.G278R	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Splice_Site_p.G278R	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	278	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.G274_P277del(3)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCTCTTCCAGGTATATCCAC	0.443			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	7	Unknown(4)|Deletion - In frame(3)	breast(4)|stomach(3)	GRCh37	CM015108|CS020997	CDH1	M|S							89.0	89.0	89.0					16																	68844244		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.832+1G>A	16.37:g.68844244G>A			A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G278R	ENST00000261769.5	37	c.832	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115468	0.77323	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.69806	-0.43;-0.43	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000149	D	0.87406	0.6169	H	0.95539	3.685	0.49389	D	0.999786	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.91205	0.4994	10	0.87932	D	0	.	17.5624	0.87910	0.0:0.0:1.0:0.0	.	278;278	Q9UII8;P12830	.;CADH1_HUMAN	R	278	ENSP00000261769:G278R;ENSP00000414946:G278R	ENSP00000261769:G278R	G	+	1	0	CDH1	67401745	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.861000	0.75478	2.510000	0.84645	0.557000	0.71058	GGA	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.443	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	43	0.00	0	G	NM_004360	Missense_Mutation	68844244	68844244	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	1.000	A
CLNK	116449	genome.wustl.edu	37	4	10515108	10515108	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr4:10515108G>T	ENST00000226951.6	-	16	1125	c.886C>A	c.(886-888)Ccc>Acc	p.P296T	CLNK_ENST00000515667.1_Missense_Mutation_p.P34T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	296					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GACCTTTTGGGGAAAGGTGGT	0.483																																					GBM(87;402 1286 6949 13902 35851)	dbGAP											0													88.0	83.0	84.0					4																	10515108		1912	4129	6041	-	-	-	SO:0001583	missense	0			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.886C>A	4.37:g.10515108G>T	ENSP00000226951:p.Pro296Thr		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.P296T	ENST00000226951.6	37	c.886	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775398	0.49786	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.62941	-0.01;-0.01	4.22	4.22	0.49857	.	0.090572	0.47455	D	0.000221	T	0.53514	0.1801	L	0.32530	0.975	0.80722	D	1	P	0.48407	0.91	P	0.45099	0.469	T	0.54523	-0.8281	10	0.42905	T	0.14	-16.9993	12.4027	0.55422	0.0:0.0:1.0:0.0	.	296	Q7Z7G1	CLNK_HUMAN	T	296;34;260	ENSP00000226951:P296T;ENSP00000427256:P34T	ENSP00000226951:P296T	P	-	1	0	CLNK	10124206	0.038000	0.19896	0.123000	0.21794	0.008000	0.06430	1.069000	0.30641	2.636000	0.89361	0.591000	0.81541	CCC	CLNK	-	NULL	ENSG00000109684		0.483	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	61	0.00	0	G	NM_052964		10515108	10515108	-1	no_errors	ENST00000226951	ensembl	human	known	69_37n	missense	58	50.00	58	SNP	0.120	T
CSNK1G2	1455	genome.wustl.edu	37	19	1978327	1978327	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr19:1978327T>C	ENST00000255641.8	+	3	706	c.211T>C	c.(211-213)Tac>Cac	p.Y71H		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAAATGAATACGTGGCTAT	0.647																																					Ovarian(91;880 1392 21236 36928 37598)	dbGAP											0													74.0	85.0	81.0					19																	1978327		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.211T>C	19.37:g.1978327T>C	ENSP00000255641:p.Tyr71His		B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y71H	ENST00000255641.8	37	c.211	CCDS12077.1	19	.	.	.	.	.	.	.	.	.	.	.	6.384	0.438983	0.12104	.	.	ENSG00000133275	ENST00000255641	T	0.19806	2.12	4.46	3.44	0.39384	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.174499	0.39146	N	0.001456	T	0.11367	0.0277	N	0.13003	0.285	0.46222	D	0.99893	B	0.06786	0.001	B	0.15052	0.012	T	0.09885	-1.0654	10	0.33940	T	0.23	.	8.3167	0.32104	0.0:0.0962:0.0:0.9038	.	71	P78368	KC1G2_HUMAN	H	71	ENSP00000255641:Y71H	ENSP00000255641:Y71H	Y	+	1	0	CSNK1G2	1929327	1.000000	0.71417	0.987000	0.45799	0.195000	0.23768	3.808000	0.55598	1.653000	0.50694	0.459000	0.35465	TAC	CSNK1G2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000133275		0.647	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2	HGNC	protein_coding	OTTHUMT00000449287.1	22	0.00	0	T	NM_001319		1978327	1978327	+1	no_errors	ENST00000255641	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	C
EPHA2	1969	genome.wustl.edu	37	1	16464648	16464648	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr1:16464648C>T	ENST00000358432.5	-	5	1166	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	338	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CCCATGCCCACGGCTGTGAGG	0.677																																						dbGAP											0													23.0	23.0	23.0					1																	16464648		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1012G>A	1.37:g.16464648C>T	ENSP00000351209:p.Val338Met		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V338M	ENST00000358432.5	37	c.1012	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907415	0.33628	.	.	ENSG00000142627	ENST00000358432	T	0.57595	0.39	4.97	0.174	0.15040	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.956335	0.08606	N	0.920724	T	0.35480	0.0933	L	0.28192	0.835	0.24087	N	0.995922	B;B	0.24823	0.112;0.084	B;B	0.21708	0.016;0.036	T	0.32241	-0.9914	10	0.59425	D	0.04	.	4.1656	0.10305	0.1631:0.4973:0.0:0.3396	.	338;338	B5A968;P29317	.;EPHA2_HUMAN	M	338	ENSP00000351209:V338M	ENSP00000351209:V338M	V	-	1	0	EPHA2	16337235	0.000000	0.05858	0.685000	0.30070	0.956000	0.61745	-0.419000	0.07071	0.206000	0.20587	0.561000	0.74099	GTG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	10	0.00	0	C	NM_004431		16464648	16464648	-1	no_errors	ENST00000358432	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.166	T
FCGBP	8857	genome.wustl.edu	37	19	40377034	40377034	+	Silent	SNP	G	G	A	rs201304305	byFrequency	TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr19:40377034G>A	ENST00000221347.6	-	24	11395	c.11388C>T	c.(11386-11388)aaC>aaT	p.N3796N	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3796	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGGTCGCCGTTGTAGTTCC	0.597																																						dbGAP											0													4.0	4.0	4.0					19																	40377034		1716	3539	5255	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11388C>T	19.37:g.40377034G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.N3796	ENST00000221347.6	37	c.11388	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	21	0.00	0	G	NM_003890		40377034	40377034	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.470	A
FRMD3	257019	genome.wustl.edu	37	9	85905548	85905548	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr9:85905548C>G	ENST00000304195.3	-	13	1371	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	FRMD3_ENST00000376434.1_Missense_Mutation_p.E195Q|FRMD3_ENST00000376438.1_Missense_Mutation_p.E389Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	389						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTTCTTGCTCGCTGGGGGAA	0.522																																						dbGAP											0													101.0	101.0	101.0					9																	85905548		1904	4132	6036	-	-	-	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1165G>C	9.37:g.85905548C>G	ENSP00000303508:p.Glu389Gln		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E389Q	ENST00000304195.3	37	c.1165	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772938	0.49680	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195	D;D;D	0.86562	-1.71;-2.14;-1.72	5.9	5.9	0.94986	.	0.121832	0.64402	D	0.000008	T	0.80839	0.4700	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.24651	0.036;0.108	B;B	0.21360	0.033;0.034	T	0.74734	-0.3565	10	0.19590	T	0.45	.	19.0536	0.93054	0.0:1.0:0.0:0.0	.	389;389	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	Q	389;195;389	ENSP00000365621:E389Q;ENSP00000365617:E195Q;ENSP00000303508:E389Q	ENSP00000303508:E389Q	E	-	1	0	FRMD3	85095368	1.000000	0.71417	0.966000	0.40874	0.918000	0.54935	5.963000	0.70372	2.806000	0.96561	0.655000	0.94253	GAG	FRMD3	-	NULL	ENSG00000172159		0.522	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	43	0.00	0	C	NM_174938		85905548	85905548	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	missense	57	42.42	42	SNP	0.998	G
FKTN	2218	genome.wustl.edu	37	9	108380351	108380351	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr9:108380351C>T	ENST00000223528.2	+	8	1146	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	FKTN_ENST00000448551.2_Missense_Mutation_p.P341L|FKTN_ENST00000357998.5_Missense_Mutation_p.P341L|FKTN_ENST00000602661.1_Missense_Mutation_p.P341L|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	341					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GCAGGACTTCCGCTCAAACAC	0.333																																						dbGAP											0													43.0	43.0	43.0					9																	108380351		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1022C>T	9.37:g.108380351C>T	ENSP00000223528:p.Pro341Leu		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom	p.P341L	ENST00000223528.2	37	c.1022	CCDS6766.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.795069|2.795069	0.50208|0.50208	.|.	.|.	ENSG00000106692|ENSG00000106692	ENST00000223528;ENST00000357998|ENST00000457847	D;D|.	0.90732|.	-2.39;-2.72|.	6.02|6.02	5.11|5.11	0.69529|0.69529	.|.	0.380247|.	0.32015|.	N|.	0.006701|.	T|T	0.64472|0.64472	0.2601|0.2601	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P;B|.	0.42039|.	0.769;0.296|.	B;B|.	0.27608|.	0.081;0.059|.	T|T	0.63088|0.63088	-0.6715|-0.6715	10|5	0.27785|.	T|.	0.31|.	-0.0021|-0.0021	13.2884|13.2884	0.60255|0.60255	0.2868:0.7132:0.0:0.0|0.2868:0.7132:0.0:0.0	.|.	341;341|.	B4DUX9;O75072|.	.;FKTN_HUMAN|.	L|C	341|38	ENSP00000223528:P341L;ENSP00000350687:P341L|.	ENSP00000223528:P341L|.	P|R	+|+	2|1	0|0	FKTN|FKTN	107420172|107420172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.181000|3.181000	0.50903|0.50903	1.523000|1.523000	0.49018|0.49018	0.650000|0.650000	0.86243|0.86243	CCG|CGC	FKTN	-	pfam_LicD	ENSG00000106692		0.333	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKTN	HGNC	protein_coding	OTTHUMT00000053505.1	41	0.00	0	C	NM_006731		108380351	108380351	+1	no_errors	ENST00000223528	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.998	T
GRPR	2925	genome.wustl.edu	37	X	16170432	16170432	+	Silent	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chrX:16170432C>T	ENST00000380289.2	+	3	1217	c.819C>T	c.(817-819)ttC>ttT	p.F273F	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	273					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGGGCCTGTTCGCCTTCTGCT	0.532																																						dbGAP											0													143.0	121.0	128.0					X																	16170432		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.819C>T	X.37:g.16170432C>T			B2R910	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.F273	ENST00000380289.2	37	c.819	CCDS14174.1	X																																																																																			GRPR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000126010		0.532	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	38	0.00	0	C	NM_005314		16170432	16170432	+1	no_errors	ENST00000380289	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	0.843	T
HERC6	55008	genome.wustl.edu	37	4	89338639	89338639	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr4:89338639G>A	ENST00000264346.7	+	13	1680	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	HERC6_ENST00000380265.5_Missense_Mutation_p.A541T	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	541					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GCTTAAAGCAGCCATCATCTC	0.398																																						dbGAP											0													71.0	66.0	67.0					4																	89338639		1878	4105	5983	-	-	-	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1621G>A	4.37:g.89338639G>A	ENSP00000264346:p.Ala541Thr		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A541T	ENST00000264346.7	37	c.1621	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644997	0.29246	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.41400	1.0;1.03	4.79	2.05	0.26809	.	0.445198	0.20382	N	0.093425	T	0.29817	0.0745	L	0.58428	1.81	0.09310	N	0.999998	P;B	0.36683	0.565;0.429	B;B	0.29785	0.107;0.05	T	0.10776	-1.0615	10	0.20519	T	0.43	.	6.4913	0.22117	0.1751:0.1535:0.6714:0.0	.	541;541	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	T	541	ENSP00000369617:A541T;ENSP00000264346:A541T	ENSP00000264346:A541T	A	+	1	0	HERC6	89557662	0.003000	0.15002	0.042000	0.18584	0.042000	0.13812	0.658000	0.24979	0.705000	0.31890	0.591000	0.81541	GCC	HERC6	-	NULL	ENSG00000138642		0.398	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	75	0.00	0	G			89338639	89338639	+1	no_errors	ENST00000264346	ensembl	human	known	69_37n	missense	83	17.82	18	SNP	0.012	A
IL1RAPL2	26280	genome.wustl.edu	37	X	105011476	105011476	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chrX:105011476C>T	ENST00000372582.1	+	11	2639	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.T628M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	628					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATACCAGCCACGACCTTGCCA	0.473																																						dbGAP											0													133.0	130.0	131.0					X																	105011476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1883C>T	X.37:g.105011476C>T	ENSP00000361663:p.Thr628Met		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.T628M	ENST00000372582.1	37	c.1883	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	C	6.211	0.407101	0.11754	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04551	3.9;3.9;3.6	5.79	2.86	0.33363	.	1.191370	0.05778	N	0.608079	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	P	0.48640	0.913	B	0.36885	0.235	T	0.49908	-0.8889	10	0.72032	D	0.01	.	10.1221	0.42627	0.2777:0.5959:0.1264:0.0	.	628	Q9NP60	IRPL2_HUMAN	M	628;628;233	ENSP00000361663:T628M;ENSP00000344976:T628M;ENSP00000445576:T233M	ENSP00000344976:T628M	T	+	2	0	IL1RAPL2	104898132	0.550000	0.26489	0.326000	0.25389	0.114000	0.19823	2.609000	0.46317	0.148000	0.19059	0.597000	0.82753	ACG	IL1RAPL2	-	NULL	ENSG00000189108		0.473	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	65	0.00	0	C	NM_017416		105011476	105011476	+1	no_errors	ENST00000344799	ensembl	human	known	69_37n	missense	40	35.48	22	SNP	0.217	T
IRAK1BP1	134728	genome.wustl.edu	37	6	79577396	79577396	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr6:79577396C>T	ENST00000369940.2	+	1	208	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	35	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AGAGACGCTACCGGGCTTACG	0.637																																						dbGAP											0													61.0	61.0	61.0					6																	79577396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.103C>T	6.37:g.79577396C>T	ENSP00000358956:p.Pro35Ser			Missense_Mutation	SNP	pfam_DUF541	p.P35S	ENST00000369940.2	37	c.103	CCDS34488.1	6	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609673	0.66558	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	4.35	0.52113	.	0.359442	0.23435	N	0.048204	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	P	0.37330	0.59	B	0.30251	0.113	T	0.06643	-1.0815	8	.	.	.	-5.5288	12.2385	0.54528	0.0:1.0:0.0:0.0	.	35	Q5VVH5	IKBP1_HUMAN	S	35	.	.	P	+	1	0	IRAK1BP1	79634115	0.232000	0.23762	0.016000	0.15963	0.002000	0.02628	1.703000	0.37846	2.225000	0.72522	0.561000	0.74099	CCG	IRAK1BP1	-	NULL	ENSG00000146243		0.637	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	15	0.00	0	C	XM_059729		79577396	79577396	+1	no_errors	ENST00000369940	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	0.042	T
ITGA6	3655	genome.wustl.edu	37	2	173362764	173362764	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr2:173362764T>C	ENST00000264106.6	+	25	3370	c.3167T>C	c.(3166-3168)aTc>aCc	p.I1056T	ITGA6_ENST00000375221.2_Missense_Mutation_p.I1056T|ITGA6_ENST00000343713.4_Missense_Mutation_p.I1012T|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.I1017T|ITGA6_ENST00000264107.7_Missense_Mutation_p.I1017T|ITGA6_ENST00000409532.1_Missense_Mutation_p.I898T			P23229	ITA6_HUMAN	integrin, alpha 6	1056					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CCTTGGTGGATCATCCTAGTG	0.418																																						dbGAP											0													255.0	229.0	238.0					2																	173362764		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3167T>C	2.37:g.173362764T>C	ENSP00000264106:p.Ile1056Thr		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.I1056T	ENST00000264106.6	37	c.3167		2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297875	0.81025	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.17	5.0	0.66597	.	0.044806	0.85682	D	0.000000	T	0.75997	0.3926	M	0.91406	3.205	0.80722	D	1	D;P;D;D	0.61697	0.99;0.946;0.968;0.968	D;P;P;P	0.64321	0.924;0.786;0.732;0.818	T	0.81516	-0.0897	10	0.87932	D	0	.	13.626	0.62165	0.0:0.0:0.1292:0.8708	.	1012;1041;1017;1017	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	T	898;1017;1056;1056;1012;1017;1056;1012;184	ENSP00000386614:I898T;ENSP00000264107:I1017T;ENSP00000264106:I1056T;ENSP00000364369:I1056T;ENSP00000341078:I1012T;ENSP00000386896:I1017T;ENSP00000406694:I1056T;ENSP00000394169:I1012T;ENSP00000388435:I184T	ENSP00000264106:I1056T	I	+	2	0	ITGA6	173071010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.941000	0.70195	1.116000	0.41820	0.533000	0.62120	ATC	ITGA6	-	NULL	ENSG00000091409		0.418	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		177	0.00	0	T			173362764	173362764	+1	no_errors	ENST00000264106	ensembl	human	known	69_37n	missense	146	35.40	80	SNP	1.000	C
ITGAM	3684	genome.wustl.edu	37	16	31282377	31282377	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr16:31282377T>C	ENST00000287497.8	+	6	605	c.530T>C	c.(529-531)aTg>aCg	p.M177T	ITGAM_ENST00000544665.3_Missense_Mutation_p.M177T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	177	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						TCAACTGTGATGGAGCAATTA	0.512																																						dbGAP											0													137.0	127.0	130.0					16																	31282377		1924	4131	6055	-	-	-	SO:0001583	missense	0			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.530T>C	16.37:g.31282377T>C	ENSP00000287497:p.Met177Thr		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.M177T	ENST00000287497.8	37	c.530	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818457	0.50633	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.83419	-1.72;-1.72	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.87763	0.6259	L	0.43554	1.36	0.42232	D	0.991891	D;D	0.56035	0.974;0.974	D;D	0.77557	0.99;0.99	D	0.88642	0.3176	9	0.59425	D	0.04	.	14.8835	0.70550	0.0:0.0:0.0:1.0	.	177;177	Q4VAK1;P11215	.;ITAM_HUMAN	T	177	ENSP00000441691:M177T;ENSP00000287497:M177T	ENSP00000287497:M177T	M	+	2	0	ITGAM	31189878	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	4.556000	0.60775	2.226000	0.72624	0.459000	0.35465	ATG	ITGAM	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000169896		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	56	0.00	0	T	NM_000632		31282377	31282377	+1	no_errors	ENST00000544665	ensembl	human	known	69_37n	missense	51	37.04	30	SNP	1.000	C
KLF15	28999	genome.wustl.edu	37	3	126070862	126070862	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr3:126070862C>T	ENST00000296233.3	-	2	1134	c.904G>A	c.(904-906)Ggt>Agt	p.G302S	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	302					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ATGAGGAGACCGGCAGGGCCA	0.577																																						dbGAP											0													35.0	36.0	36.0					3																	126070862		2186	4281	6467	-	-	-	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.904G>A	3.37:g.126070862C>T	ENSP00000296233:p.Gly302Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G302S	ENST00000296233.3	37	c.904	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408715	0.42715	.	.	ENSG00000163884	ENST00000296233	T	0.08458	3.09	5.25	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.48362	1.52	0.37073	D	0.898613	P	0.35551	0.509	B	0.24155	0.051	T	0.36696	-0.9737	10	0.17832	T	0.49	.	11.932	0.52851	0.0:0.9144:0.0:0.0855	.	302	Q9UIH9	KLF15_HUMAN	S	302	ENSP00000296233:G302S	ENSP00000296233:G302S	G	-	1	0	KLF15	127553552	0.998000	0.40836	0.843000	0.33291	0.885000	0.51271	3.888000	0.56204	1.367000	0.46095	0.491000	0.48974	GGT	KLF15	-	NULL	ENSG00000163884		0.577	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	53	0.00	0	C	NM_014079		126070862	126070862	-1	no_errors	ENST00000296233	ensembl	human	known	69_37n	missense	39	46.58	34	SNP	0.448	T
MYO3B	140469	genome.wustl.edu	37	2	171509542	171509542	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr2:171509542C>T	ENST00000408978.4	+	35	4080	c.3937C>T	c.(3937-3939)Cca>Tca	p.P1313S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.P1286S|MYO3B_ENST00000334231.6_Missense_Mutation_p.P1322S|AC007277.3_ENST00000428156.1_RNA	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1313					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATCTCTGTCACCAGTGGACTG	0.373																																						dbGAP											0													151.0	146.0	148.0					2																	171509542		1855	4104	5959	-	-	-	SO:0001583	missense	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3937C>T	2.37:g.171509542C>T	ENSP00000386213:p.Pro1313Ser		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.P1322S	ENST00000408978.4	37	c.3964	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015883	0.19355	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000334231	T;T;T	0.77620	-1.04;-1.1;-1.11	5.53	4.64	0.57946	.	0.149707	0.43110	D	0.000605	T	0.62085	0.2399	N	0.12746	0.255	0.37454	D	0.914953	B;B	0.29988	0.264;0.172	B;B	0.31101	0.124;0.058	T	0.67945	-0.5539	10	0.52906	T	0.07	.	12.5589	0.56269	0.0:0.6078:0.3922:0.0	.	1286;1313	Q8WXR4-4;Q8WXR4	.;MYO3B_HUMAN	S	1286;1313;1322	ENSP00000386497:P1286S;ENSP00000386213:P1313S;ENSP00000335100:P1322S	ENSP00000335100:P1322S	P	+	1	0	MYO3B	171217788	1.000000	0.71417	0.882000	0.34594	0.467000	0.32768	4.904000	0.63279	2.594000	0.87642	0.455000	0.32223	CCA	MYO3B	-	NULL	ENSG00000071909		0.373	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	77	0.00	0	C			171509542	171509542	+1	no_errors	ENST00000334231	ensembl	human	known	69_37n	missense	63	32.98	31	SNP	0.991	T
NUP98	4928	genome.wustl.edu	37	11	3723746	3723746	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr11:3723746C>A	ENST00000324932.7	-	23	3879	c.3459G>T	c.(3457-3459)caG>caT	p.Q1153H	NUP98_ENST00000355260.3_Missense_Mutation_p.Q1153H|NUP98_ENST00000359171.4_Missense_Mutation_p.Q1153H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1170					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AATCGGCAATCTGATGATTTT	0.448			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													139.0	128.0	132.0					11																	3723746		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3459G>T	11.37:g.3723746C>A	ENSP00000316032:p.Gln1153His		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.Q1153H	ENST00000324932.7	37	c.3459	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661203	0.29515	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.35	1.03	0.20045	.	0.273316	0.37261	N	0.002164	T	0.21387	0.0515	N	0.15975	0.35	0.22127	N	0.999347	B;B	0.15141	0.012;0.001	B;B	0.16289	0.015;0.002	T	0.12785	-1.0534	9	0.44086	T	0.13	-1.248	5.9716	0.19355	0.2387:0.5741:0.1163:0.0709	.	1153;1153	P52948-2;P52948-5	.;.	H	1153	.	ENSP00000316032:Q1153H	Q	-	3	2	NUP98	3680322	0.001000	0.12720	0.893000	0.35052	0.976000	0.68499	0.020000	0.13466	0.601000	0.29879	0.462000	0.41574	CAG	NUP98	-	NULL	ENSG00000110713		0.448	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	48	0.00	0	C	NM_016320		3723746	3723746	-1	no_errors	ENST00000324932	ensembl	human	known	69_37n	missense	36	35.71	20	SNP	0.306	A
OR4C5	79346	genome.wustl.edu	37	11	48387505	48387505	+	Silent	SNP	G	G	A			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr11:48387505G>A	ENST00000319813.3	-	1	512	c.513C>T	c.(511-513)gtC>gtT	p.V171V				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GAAATCCCCCGACCCATGCCA	0.512																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.513C>T	11.37:g.48387505G>A			Q6IFB2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V171	ENST00000319813.3	37	c.513		11																																																																																			OR4C5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176540		0.512	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	OR4C5	HGNC	protein_coding	OTTHUMT00000404174.1	20	0.00	0	G	NG_002247		48387505	48387505	-1	no_errors	ENST00000319813	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.000	A
OR4F17	81099	genome.wustl.edu	37	19	111016	111016	+	Missense_Mutation	SNP	T	T	G	rs200336441		TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr19:111016T>G	ENST00000585993.1	+	2	477	c.338T>G	c.(337-339)tTt>tGt	p.F113C	OR4F17_ENST00000318050.3_Missense_Mutation_p.F113C			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GCCATGGGCTTTGACAGATAT	0.463																																						dbGAP											0													1.0	1.0	1.0					19																	111016		76	150	226	-	-	-	SO:0001583	missense	0			AC005605	CCDS32854.1	19p13.3	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15381	protein-coding gene	gene with protein product				OR4F19, OR4F11P, OR4F18			Standard	NM_001005240		Approved		uc002loc.1	Q8NGA8		ENST00000585993.1:c.338T>G	19.37:g.111016T>G	ENSP00000467301:p.Phe113Cys		B2RNE8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F113C	ENST00000585993.1	37	c.338	CCDS32854.1	19	.	.	.	.	.	.	.	.	.	.	.	9.777	1.174271	0.21704	.	.	ENSG00000176695	ENST00000442916;ENST00000318050	T	0.00520	6.85	2.55	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.156294	0.30193	N	0.010181	T	0.01189	0.0039	M	0.75884	2.315	0.31291	N	0.689393	D	0.76494	0.999	D	0.74674	0.984	T	0.24154	-1.0168	10	0.72032	D	0.01	.	4.9478	0.13999	0.2703:0.0:0.0:0.7297	.	113	Q8NGA8	O4F17_HUMAN	C	161;113	ENSP00000315047:F113C	ENSP00000315047:F113C	F	+	2	0	OR4F17	62016	0.698000	0.27777	1.000000	0.80357	0.325000	0.28411	0.344000	0.19962	1.410000	0.46936	0.346000	0.21813	TTT	OR4F17	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176695		0.463	OR4F17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F17	HGNC	protein_coding	OTTHUMT00000451410.1	20	0.00	0	T			111016	111016	+1	no_errors	ENST00000318050	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.999	G
OR8K3	219473	genome.wustl.edu	37	11	56086657	56086657	+	Missense_Mutation	SNP	G	G	A	rs200418517		TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr11:56086657G>A	ENST00000312711.1	+	1	875	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R292Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TATAGTTTACGAAACAAAGAT	0.343																																						dbGAP											1	Substitution - Missense(1)	skin(1)											66.0	59.0	61.0					11																	56086657		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.875G>A	11.37:g.56086657G>A	ENSP00000323555:p.Arg292Gln		Q6IFC4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R292Q	ENST00000312711.1	37	c.875	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553763	0.45487	.	.	ENSG00000181689	ENST00000312711	T	0.41065	1.01	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000006	T	0.73345	0.3575	H	0.95574	3.69	0.27894	N	0.939235	D	0.76494	0.999	D	0.70487	0.969	T	0.73282	-0.4032	10	0.72032	D	0.01	.	15.5878	0.76499	0.0:0.0:1.0:0.0	.	292	Q8NH51	OR8K3_HUMAN	Q	292	ENSP00000323555:R292Q	ENSP00000323555:R292Q	R	+	2	0	OR8K3	55843233	0.988000	0.35896	0.880000	0.34516	0.010000	0.07245	3.456000	0.53000	2.330000	0.79161	0.471000	0.43371	CGA	OR8K3	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000181689		0.343	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	66	0.00	0	G	NM_001005202		56086657	56086657	+1	no_errors	ENST00000312711	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	0.997	A
PTEN	5728	genome.wustl.edu	37	10	89692886	89692886	+	Missense_Mutation	SNP	T	T	A	rs121909223		TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr10:89692886T>A	ENST00000371953.3	+	5	1727	c.370T>A	c.(370-372)Tgt>Agt	p.C124S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	124	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|C -> S (in CWS1; phosphatase-dead protein with neither lipid nor protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C124S(3)|p.C124fs*10(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.C124R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCAATTCACTGTAAAGCTGG	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	58	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM971271	PTEN	M	rs121909223						139.0	128.0	132.0					10																	89692886		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.370T>A	10.37:g.89692886T>A	ENSP00000361021:p.Cys124Ser		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.C124S	ENST00000371953.3	37	c.370	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835473	0.91117	.	.	ENSG00000171862	ENST00000371953	D	0.99889	-7.55	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95909	0.8921	9	.	.	.	-0.4307	15.1019	0.72284	0.0:0.0:0.0:1.0	.	124	P60484	PTEN_HUMAN	S	124	ENSP00000361021:C124S	.	C	+	1	0	PTEN	89682866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TGT	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	94	0.00	0	T	NM_000314		89692886	89692886	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	28	49.09	27	SNP	1.000	A
RAPGEF4	11069	genome.wustl.edu	37	2	173891911	173891911	+	Missense_Mutation	SNP	G	G	A	rs575529555		TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr2:173891911G>A	ENST00000397081.3	+	25	2625	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.V684I|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.V657I|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.V827I|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.V675I|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.V828I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.V675I|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.V608I	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	828	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTTTTGGGTCGTCACTGAGAT	0.368																																						dbGAP											0													82.0	80.0	80.0					2																	173891911		1811	4082	5893	-	-	-	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2482G>A	2.37:g.173891911G>A	ENSP00000380271:p.Val828Ile		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.V828I	ENST00000397081.3	37	c.2482	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335886	0.41398	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.65	4.77	0.60923	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.112127	0.64402	N	0.000011	T	0.23171	0.0560	L	0.28014	0.82	0.58432	D	0.999992	B;B	0.23316	0.083;0.052	B;B	0.20767	0.028;0.031	T	0.02805	-1.1108	10	0.28530	T	0.3	.	14.8715	0.70462	0.0695:0.0:0.9305:0.0	.	684;828	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	I	827;828;828;684;657;675;675;608;59	ENSP00000264111:V827I;ENSP00000380271:V828I;ENSP00000387104:V828I;ENSP00000380276:V684I;ENSP00000440135:V657I;ENSP00000440250:V675I;ENSP00000437384:V675I;ENSP00000438011:V608I;ENSP00000380274:V59I	ENSP00000264111:V827I	V	+	1	0	RAPGEF4	173600157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.168000	0.71908	1.369000	0.46134	0.655000	0.94253	GTC	RAPGEF4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000091428		0.368	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	36	0.00	0	G	NM_007023		173891911	173891911	+1	no_errors	ENST00000397081	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	A
RAPGEF6	51735	genome.wustl.edu	37	5	130825308	130825308	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr5:130825308A>C	ENST00000509018.1	-	15	1976	c.1771T>G	c.(1771-1773)Ttt>Gtt	p.F591V	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.F306V|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.F591V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.F591V|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.F591V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.F591V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.F641V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.F591V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	591	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTTTCATAAATGTAATATTC	0.289																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													61.0	63.0	62.0					5																	130825308		2199	4291	6490	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1771T>G	5.37:g.130825308A>C	ENSP00000421684:p.Phe591Val		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F591V	ENST00000509018.1	37	c.1771	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420770	0.42918	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.93	3.42	0.39159	PDZ/DHR/GLGF (4);Ras guanine nucleotide exchange factor, domain (1);	0.252260	0.38897	N	0.001536	T	0.13543	0.0328	N	0.13235	0.315	0.80722	D	1	B;B;B;B;B;B;B	0.16603	0.006;0.003;0.012;0.018;0.001;0.002;0.001	B;B;B;B;B;B;B	0.19666	0.009;0.005;0.026;0.016;0.009;0.009;0.005	T	0.11470	-1.0586	10	0.20046	T	0.44	.	8.4732	0.32997	0.8178:0.0:0.0647:0.1175	.	591;591;591;306;641;591;591	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	V	591;591;591;591;591;306;591;591;641	ENSP00000421684:F591V;ENSP00000309298:F591V;ENSP00000426081:F591V;ENSP00000296859:F591V;ENSP00000426910:F306V;ENSP00000311419:F591V;ENSP00000425389:F591V;ENSP00000426948:F641V	ENSP00000426948:F641V	F	-	1	0	RAPGEF6;FNIP1	130853207	0.993000	0.37304	0.997000	0.53966	0.996000	0.88848	2.194000	0.42668	0.428000	0.26173	0.533000	0.62120	TTT	RAPGEF6	-	pfam_PDZ,superfamily_Ras_GEF_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000158987		0.289	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	68	0.00	0	A	NM_016340		130825308	130825308	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	55	38.89	35	SNP	0.968	C
SIRPB2	284759	genome.wustl.edu	37	20	1460499	1460499	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr20:1460499G>C	ENST00000359801.3	-	2	333	c.297C>G	c.(295-297)atC>atG	p.I99M	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	92	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGTCCGTTGGATCATGGGCA	0.453																																						dbGAP											0													141.0	126.0	130.0					20																	1460499		1568	3582	5150	-	-	-	SO:0001583	missense	0			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.297C>G	20.37:g.1460499G>C	ENSP00000352849:p.Ile99Met		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I99M	ENST00000359801.3	37	c.297	CCDS42849.1	20	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081859	0.20309	.	.	ENSG00000196209	ENST00000359801	T	0.64991	-0.13	3.57	2.62	0.31277	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.422880	0.04519	N	0.384163	T	0.68302	0.2986	L	0.59436	1.845	0.24410	N	0.994661	D	0.55385	0.971	P	0.52109	0.69	T	0.52578	-0.8557	10	0.52906	T	0.07	-3.6645	7.1889	0.25814	0.1225:0.0:0.8775:0.0	.	99	Q5JXA9	SIRB2_HUMAN	M	99	ENSP00000352849:I99M	ENSP00000352849:I99M	I	-	3	3	SIRPB2	1408499	0.005000	0.15991	0.145000	0.22337	0.206000	0.24218	0.196000	0.17176	1.101000	0.41535	-0.137000	0.14449	ATC	SIRPB2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000196209		0.453	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	HGNC	protein_coding	OTTHUMT00000077544.1	46	0.00	0	G	NM_178459		1460499	1460499	-1	no_errors	ENST00000359801	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	0.147	C
MTCL1	23255	genome.wustl.edu	37	18	8784388	8784388	+	Silent	SNP	G	G	A	rs569419751		TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr18:8784388G>A	ENST00000306329.11	+	5	2358	c.2358G>A	c.(2356-2358)tcG>tcA	p.S786S	SOGA2_ENST00000359865.3_Silent_p.S426S|SOGA2_ENST00000400050.3_Silent_p.S426S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.S426S																							AGAAGACGTCGGGCTTCGGGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14069	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													56.0	69.0	65.0					18																	8784388		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000306329.11:c.2358G>A	18.37:g.8784388G>A				Silent	SNP	pfam_DUF3166	p.S426	ENST00000306329.11	37	c.1278		18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	27	0.00	0	G			8784388	8784388	+1	no_errors	ENST00000359865	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	0.774	A
TUBA3C	7278	genome.wustl.edu	37	13	19748238	19748238	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr13:19748238C>T	ENST00000400113.3	-	5	1222	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	373					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCACACAGCCCGCTGCACCTT	0.602																																						dbGAP											0													71.0	65.0	67.0					13																	19748238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1118G>A	13.37:g.19748238C>T	ENSP00000382982:p.Arg373Gln		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.R373Q	ENST00000400113.3	37	c.1118	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	c	14.66	2.602705	0.46423	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84660	-1.88	1.22	1.22	0.21188	.	0.000000	0.44483	U	0.000447	D	0.86472	0.5941	.	.	.	0.38327	D	0.943699	.	.	.	.	.	.	D	0.86883	0.2043	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	Q	373	ENSP00000382982:R373Q	ENSP00000354037:R373Q	R	-	2	0	TUBA3C	18646238	0.997000	0.39634	1.000000	0.80357	0.838000	0.47535	3.665000	0.54532	0.982000	0.38575	0.194000	0.17425	CGG	TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_tubulin	ENSG00000198033		0.602	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	64	0.00	0	C	NM_006001		19748238	19748238	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	missense	36	38.98	23	SNP	1.000	T
WDR25	79446	genome.wustl.edu	37	14	100847946	100847946	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr14:100847946T>C	ENST00000335290.6	+	2	911	c.685T>C	c.(685-687)Tat>Cat	p.Y229H	WDR25_ENST00000554998.1_Missense_Mutation_p.Y229H|WDR25_ENST00000402312.3_Missense_Mutation_p.Y229H|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Missense_Mutation_p.Y229H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	229										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAATAGCCATTATAAAGAAAC	0.562																																						dbGAP											0													43.0	46.0	45.0					14																	100847946		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.685T>C	14.37:g.100847946T>C	ENSP00000334148:p.Tyr229His		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y229H	ENST00000335290.6	37	c.685	CCDS32157.1	14	.	.	.	.	.	.	.	.	.	.	T	5.191	0.220867	0.09863	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.20200	5.02;5.02;5.02;2.09	5.63	3.28	0.37604	WD40 repeat-like-containing domain (1);	0.718779	0.12561	N	0.458151	T	0.12944	0.0314	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.27297	-1.0078	10	0.40728	T	0.16	-4.4165	7.8827	0.29631	0.0:0.1654:0.0:0.8346	.	229	Q64LD2	WDR25_HUMAN	H	229	ENSP00000450661:Y229H;ENSP00000385540:Y229H;ENSP00000334148:Y229H;ENSP00000450727:Y229H	ENSP00000334148:Y229H	Y	+	1	0	WDR25	99917699	0.004000	0.15560	0.002000	0.10522	0.140000	0.21249	0.825000	0.27393	0.425000	0.26087	0.533000	0.62120	TAT	WDR25	-	superfamily_WD40_repeat_dom	ENSG00000176473		0.562	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDR25	HGNC	protein_coding	OTTHUMT00000414312.1	28	0.00	0	T	NM_024515		100847946	100847946	+1	no_errors	ENST00000335290	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.001	C
WNT16	51384	genome.wustl.edu	37	7	120969710	120969711	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-AR-A2LL-01A-11D-A17W-09	TCGA-AR-A2LL-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9b2fb8e3-62a1-45b0-9d8d-c2b2e9d392ee	2db1c6af-2da9-4408-b5cf-b1f0e65ec6e0	g.chr7:120969710_120969711insTT	ENST00000222462.2	+	2	475_476	c.185_186insTT	c.(184-189)aggaaafs	p.RK62fs	WNT16_ENST00000361301.2_Frame_Shift_Ins_p.RK52fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	62					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTGTGCAAGAGGAAACCGTACC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	Exception_encountered	7.37:g.120969710_120969711insTT	ENSP00000222462:p.Arg62fs		Q2M3G1|Q9Y5C0	Frame_Shift_Ins	INS	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.R62fs	ENST00000222462.2	37	c.185_186	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt	ENSG00000002745		0.609	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	15	0.00	0	-	NM_057168		120969710	120969711	+1	no_errors	ENST00000222462	ensembl	human	known	69_37n	frame_shift_ins	27	20.59	7	INS	0.992:1.000	TT
