#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
AEBP1	165	genome.wustl.edu	37	7	44151594	44151594	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:44151594G>A	ENST00000223357.3	+	16	2287	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	AEBP1_ENST00000450684.2_Missense_Mutation_p.R236H|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	661	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R661H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGGACACACGCATCCACCTG	0.647																																						dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	63.0	67.0					7																	44151594		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1982G>A	7.37:g.44151594G>A	ENSP00000223357:p.Arg661His		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.R661H	ENST00000223357.3	37	c.1982	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.181827	0.94885	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.11930	2.73;2.73	5.14	5.14	0.70334	Peptidase M14, carboxypeptidase A (2);	0.058266	0.64402	D	0.000004	T	0.37183	0.0994	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.85130	0.997;0.965	T	0.12066	-1.0562	10	0.87932	D	0	-28.998	18.2412	0.89968	0.0:0.0:1.0:0.0	.	236;661	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	H	661;236	ENSP00000223357:R661H;ENSP00000398878:R236H	ENSP00000223357:R661H	R	+	2	0	AEBP1	44118119	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.782000	0.99034	2.396000	0.81511	0.462000	0.41574	CGC	AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000106624		0.647	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	39	0.00	0	G	NM_001129		44151594	44151594	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	missense	29	21.05	8	SNP	1.000	A
AURKA	6790	genome.wustl.edu	37	20	54961390	54961390	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr20:54961390G>A	ENST00000347343.2	-	3	509	c.242C>T	c.(241-243)gCa>gTa	p.A81V	AURKA_ENST00000312783.6_Missense_Mutation_p.A81V|AURKA_ENST00000395914.1_Missense_Mutation_p.A81V|AURKA_ENST00000371356.2_Missense_Mutation_p.A81V|AURKA_ENST00000395911.1_Missense_Mutation_p.A81V|AURKA_ENST00000395907.1_Missense_Mutation_p.A81V|AURKA_ENST00000395909.4_Missense_Mutation_p.A81V|AURKA_ENST00000395915.3_Missense_Mutation_p.A81V|AURKA_ENST00000395913.3_Missense_Mutation_p.A81V	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.A81V(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TACACTGGTTGCCTGCAATTG	0.493																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	dbGAP											1	Substitution - Missense(1)	breast(1)											175.0	154.0	161.0					20																	54961390		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.242C>T	20.37:g.54961390G>A	ENSP00000216911:p.Ala81Val		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	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	p.A81V	ENST00000347343.2	37	c.242	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270693	0.40194	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.51;-0.07;2.67;2.44;2.41	5.24	4.25	0.50352	.	0.798454	0.11193	N	0.589625	T	0.64394	0.2594	L	0.49350	1.555	0.09310	N	1	B;B;B;B;B;B;B	0.27700	0.026;0.186;0.031;0.047;0.002;0.005;0.022	B;B;B;B;B;B;B	0.30029	0.012;0.11;0.016;0.011;0.002;0.007;0.012	T	0.54463	-0.8290	10	0.34782	T	0.22	-31.1166	8.4404	0.32812	0.0889:0.0:0.7495:0.1616	.	81;81;81;81;81;81;81	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	V	81	ENSP00000379245:A81V;ENSP00000379250:A81V;ENSP00000216911:A81V;ENSP00000379251:A81V;ENSP00000321591:A81V;ENSP00000360407:A81V;ENSP00000379249:A81V;ENSP00000379247:A81V;ENSP00000379243:A81V;ENSP00000393452:A81V;ENSP00000388073:A81V;ENSP00000405042:A81V;ENSP00000405170:A81V	ENSP00000321591:A81V	A	-	2	0	AURKA	54394797	0.009000	0.17119	0.021000	0.16686	0.067000	0.16453	1.594000	0.36697	1.272000	0.44329	0.655000	0.94253	GCA	AURKA	-	NULL	ENSG00000087586		0.493	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	173	0.00	0	G	NM_003600		54961390	54961390	-1	no_errors	ENST00000312783	ensembl	human	known	69_37n	missense	128	15.13	23	SNP	0.011	A
ERICH3	127254	genome.wustl.edu	37	1	75038828	75038829	+	Frame_Shift_Ins	INS	-	-	C	rs372137519	byFrequency	TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr1:75038828_75038829insC	ENST00000326665.5	-	14	2783_2784	c.2565_2566insG	c.(2563-2568)gggtcafs	p.S856fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		856	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGGGGTCTGACCCCCCTTCAC	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000326665.5:c.2566dupG	1.37:g.75038834_75038834dupC	ENSP00000322609:p.Ser856fs		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Ins	INS	NULL	p.S855fs	ENST00000326665.5	37	c.2566_2565	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.530	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	162	0.00	0	-			75038828	75038829	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	frame_shift_ins	36	25.00	12	INS	0.000:0.000	C
C5	727	genome.wustl.edu	37	9	123778623	123778623	+	Silent	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr9:123778623C>T	ENST00000223642.1	-	15	1934	c.1905G>A	c.(1903-1905)ggG>ggA	p.G635G		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	635					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.G635G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CACCACCTGCCCCACAGCCCA	0.428																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											142.0	119.0	127.0					9																	123778623		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1905G>A	9.37:g.123778623C>T			Q14CJ0|Q27I61	Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G635	ENST00000223642.1	37	c.1905	CCDS6826.1	9																																																																																			C5	-	NULL	ENSG00000106804		0.428	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	83	0.00	0	C	NM_001735		123778623	123778623	-1	no_errors	ENST00000223642	ensembl	human	known	69_37n	silent	41	31.67	19	SNP	0.993	T
CAMKMT	79823	genome.wustl.edu	37	2	44993576	44993576	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr2:44993576C>T	ENST00000378494.3	+	10	814	c.770C>T	c.(769-771)gCg>gTg	p.A257V		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	257						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)	p.A257V(1)		breast(2)|large_intestine(3)|lung(5)	10						TAGGGGAAAGCGATGGTATTT	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	79.0	81.0					2																	44993576		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.770C>T	2.37:g.44993576C>T	ENSP00000367755:p.Ala257Val		Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.A257V	ENST00000378494.3	37	c.770	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257159	0.80246	.	.	ENSG00000143919	ENST00000378494	T	0.08546	3.08	5.47	5.47	0.80525	.	0.049452	0.85682	D	0.000000	T	0.20820	0.0501	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03068	-1.1076	10	0.21540	T	0.41	-9.849	19.3513	0.94387	0.0:1.0:0.0:0.0	.	257	Q7Z624	CMKMT_HUMAN	V	257	ENSP00000367755:A257V	ENSP00000367755:A257V	A	+	2	0	CAMKMT	44847080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.931000	0.75863	2.571000	0.86741	0.650000	0.86243	GCG	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000143919		0.368	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	118	0.00	0	C	NM_024766		44993576	44993576	+1	no_errors	ENST00000378494	ensembl	human	known	69_37n	missense	164	17.59	35	SNP	1.000	T
CD163L1	283316	genome.wustl.edu	37	12	7556322	7556322	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr12:7556322A>C	ENST00000313599.3	-	6	1274	c.1217T>G	c.(1216-1218)gTt>gGt	p.V406G	CD163L1_ENST00000416109.2_Missense_Mutation_p.V416G|CD163L1_ENST00000396630.1_Missense_Mutation_p.V406G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	406	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.V406G(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGCTTACAAACCACAAGGGC	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											180.0	164.0	169.0					12																	7556322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1217T>G	12.37:g.7556322A>C	ENSP00000315945:p.Val406Gly		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.V406G	ENST00000313599.3	37	c.1217	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513185	0.64522	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	2.08	0.911	0.19343	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.68641	0.3023	H	0.96333	3.805	0.49798	D	0.999824	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.984	T	0.66830	-0.5824	9	0.87932	D	0	.	5.2759	0.15649	0.8354:0.0:0.1646:0.0	.	416;406	E7EVK4;Q9NR16	.;C163B_HUMAN	G	406;416;406;52	ENSP00000315945:V406G;ENSP00000393474:V416G;ENSP00000379871:V406G;ENSP00000439921:V52G	ENSP00000315945:V406G	V	-	2	0	CD163L1	7447589	0.055000	0.20627	0.473000	0.27253	0.620000	0.37586	3.530000	0.53539	0.242000	0.21303	0.460000	0.39030	GTT	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	90	0.00	0	A	NM_174941		7556322	7556322	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	C
CNTNAP4	85445	genome.wustl.edu	37	16	76501400	76501400	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr16:76501400C>G	ENST00000476707.1	+	9	1783	c.1644C>G	c.(1642-1644)gaC>gaG	p.D548E	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D544E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D472E|SNORD33_ENST00000516213.1_RNA|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D496E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	545					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.D520E(1)|p.D472E(1)|p.D544E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCAGATAGACTCATGTGGCA	0.413																																						dbGAP											3	Substitution - Missense(3)	breast(3)											97.0	93.0	94.0					16																	76501400		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1644C>G	16.37:g.76501400C>G	ENSP00000417628:p.Asp548Glu		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D544E	ENST00000476707.1	37	c.1632		16	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596500	0.66332	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.18	3.23	0.37069	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.42053	D	0.000778	D	0.83644	0.5299	.	.	.	0.34698	D	0.726436	D;D;D;D	0.89917	1.0;0.978;1.0;0.999	D;D;D;D	0.91635	0.999;0.945;0.999;0.999	D	0.86978	0.2102	9	0.87932	D	0	.	8.5184	0.33259	0.0:0.7136:0.0:0.2864	.	472;548;520;545	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	E	544;496;472;548	ENSP00000306893:D544E;ENSP00000439733:D496E;ENSP00000418741:D472E;ENSP00000417628:D548E	ENSP00000306893:D544E	D	+	3	2	CNTNAP4	75058901	1.000000	0.71417	0.984000	0.44739	0.976000	0.68499	1.741000	0.38238	0.774000	0.33427	0.650000	0.86243	GAC	CNTNAP4	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000152910		0.413	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	136	0.00	0	C	NM_033401		76501400	76501400	+1	no_errors	ENST00000307431	ensembl	human	known	69_37n	missense	8	70.37	19	SNP	0.957	G
CSTF2T	23283	genome.wustl.edu	37	10	53458363	53458363	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr10:53458363C>T	ENST00000331173.4	-	1	992	c.947G>A	c.(946-948)cGc>cAc	p.R316H	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	316	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R316H(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CACGGGTCCGCGAGGTATAGG	0.572																																						dbGAP											2	Substitution - Missense(2)	prostate(1)|breast(1)											72.0	68.0	69.0					10																	53458363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.947G>A	10.37:g.53458363C>T	ENSP00000332444:p.Arg316His		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R316H	ENST00000331173.4	37	c.947	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415278	0.42817	.	.	ENSG00000177613	ENST00000331173	T	0.24350	1.86	4.7	4.7	0.59300	.	0.292541	0.33670	N	0.004664	T	0.28067	0.0692	L	0.58101	1.795	0.45118	D	0.99813	B	0.24186	0.099	B	0.18263	0.021	T	0.07539	-1.0767	10	0.56958	D	0.05	-1.9849	15.5353	0.75998	0.0:1.0:0.0:0.0	.	316	Q9H0L4	CSTFT_HUMAN	H	316	ENSP00000332444:R316H	ENSP00000332444:R316H	R	-	2	0	CSTF2T	53128369	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.108000	0.50337	2.613000	0.88420	0.655000	0.94253	CGC	CSTF2T	-	NULL	ENSG00000177613		0.572	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	32	0.00	0	C	NM_015235		53458363	53458363	-1	no_errors	ENST00000331173	ensembl	human	known	69_37n	missense	8	46.67	7	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83872606	83872606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr6:83872606C>T	ENST00000349129.2	+	38	7320	c.7060C>T	c.(7060-7062)Cga>Tga	p.R2354*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.R2345*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.R2238*|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2354					protein transport (GO:0015031)			p.R2354*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACGTGGTACGACTAGCAAA	0.388																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											209.0	195.0	200.0					6																	83872606		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7060C>T	6.37:g.83872606C>T	ENSP00000195654:p.Arg2354*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.R2354*	ENST00000349129.2	37	c.7060	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	49	15.248676	0.99827	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	.	.	.	X	2354;2238;2238	.	ENSP00000237163:R2238X	R	+	1	2	DOPEY1	83929325	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.505000	0.66981	2.720000	0.93068	0.650000	0.86243	CGA	DOPEY1	-	NULL	ENSG00000083097		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	157	0.00	0	C	NM_015018		83872606	83872606	+1	no_errors	ENST00000349129	ensembl	human	known	69_37n	nonsense	58	30.95	26	SNP	1.000	T
FAM71E2	284418	genome.wustl.edu	37	19	55871057	55871057	+	Silent	SNP	C	C	G			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr19:55871057C>G	ENST00000424985.3	-	9	1372	c.1179G>C	c.(1177-1179)ggG>ggC	p.G393G	CTD-2105E13.6_ENST00000591954.3_5'Flank	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	393	Pro-rich.							p.G49G(1)|p.G393G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						GTGGCCCCGGCCCCTGGTGGG	0.652																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											21.0	24.0	23.0					19																	55871057		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.1179G>C	19.37:g.55871057C>G			Q8ND99	Silent	SNP	pfam_DUF3699	p.G393	ENST00000424985.3	37	c.1179		19																																																																																			FAM71E2	-	NULL	ENSG00000180043		0.652	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	34	0.00	0	C	NM_001145402		55871057	55871057	-1	no_errors	ENST00000424985	ensembl	human	novel	69_37n	silent	10	37.50	6	SNP	0.000	G
FAT3	120114	genome.wustl.edu	37	11	92087880	92087880	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr11:92087880T>A	ENST00000298047.6	+	1	2619	c.2602T>A	c.(2602-2604)Tac>Aac	p.Y868N	FAT3_ENST00000409404.2_Missense_Mutation_p.Y868N|FAT3_ENST00000541502.1_Missense_Mutation_p.Y868N|FAT3_ENST00000525166.1_Missense_Mutation_p.Y718N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	868	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y868N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGTGACTTACTCAGTCTT	0.418										TCGA Ovarian(4;0.039)																												dbGAP											2	Substitution - Missense(2)	breast(2)											98.0	95.0	96.0					11																	92087880		1955	4144	6099	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2602T>A	11.37:g.92087880T>A	ENSP00000298047:p.Tyr868Asn		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Y868N	ENST00000298047.6	37	c.2602		11	.	.	.	.	.	.	.	.	.	.	T	17.45	3.391495	0.62066	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.71	5.71	0.89125	.	.	.	.	.	D	0.88058	0.6335	H	0.99225	4.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92915	0.6350	9	0.87932	D	0	.	15.1667	0.72833	0.0:0.0:0.0:1.0	.	868	Q8TDW7-3	.	N	868;868;868;718	ENSP00000298047:Y868N;ENSP00000387040:Y868N;ENSP00000443786:Y868N;ENSP00000432586:Y718N	ENSP00000298047:Y868N	Y	+	1	0	FAT3	91727528	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	7.975000	0.88055	2.180000	0.69256	0.383000	0.25322	TAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.418	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		82	0.00	0	T	NM_001008781		92087880	92087880	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.998	A
FSD2	123722	genome.wustl.edu	37	15	83451757	83451759	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr15:83451757_83451759delTTC	ENST00000334574.8	-	4	935_937	c.754_756delGAA	c.(754-756)gaadel	p.E252del	FSD2_ENST00000541889.1_In_Frame_Del_p.E252del			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	252								p.E252delE(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CAAAGTTTTGTTCTTGTTTTCCA	0.355																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.754_756delGAA	15.37:g.83451757_83451759delTTC	ENSP00000335651:p.Glu252del		B3KVG1|B7ZM02	In_Frame_Del	DEL	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E252in_frame_del	ENST00000334574.8	37	c.756_754	CCDS45332.1	15																																																																																			FSD2	-	NULL	ENSG00000186628		0.355	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	115	0.00	0	TTC	NM_001007122		83451757	83451759	-1	no_errors	ENST00000334574	ensembl	human	known	69_37n	in_frame_del	164	13.54	26	DEL	1.000:1.000:1.000	-
FYCO1	79443	genome.wustl.edu	37	3	46010138	46010138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr3:46010138delC	ENST00000296137.2	-	8	893	c.688delG	c.(688-690)gagfs	p.E230fs	FYCO1_ENST00000535325.1_Frame_Shift_Del_p.E230fs	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	230					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCAAAGCCCTCCAATGCCTCG	0.537																																						dbGAP											0													66.0	63.0	64.0					3																	46010138		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.688delG	3.37:g.46010138delC	ENSP00000296137:p.Glu230fs		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Frame_Shift_Del	DEL	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E230fs	ENST00000296137.2	37	c.688	CCDS2734.1	3																																																																																			FYCO1	-	NULL	ENSG00000163820		0.537	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	49	0.00	0	C	NM_024513		46010138	46010138	-1	no_errors	ENST00000535325	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	1.000	-
GABRA5	2558	genome.wustl.edu	37	15	27114436	27114436	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr15:27114436A>T	ENST00000335625.5	+	3	929	c.41A>T	c.(40-42)aAc>aTc	p.N14I	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Missense_Mutation_p.N14I|GABRA5_ENST00000400081.3_Missense_Mutation_p.N14I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	14					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.N14I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ATGATCAAAAACCTCCTTCTC	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											221.0	215.0	217.0					15																	27114436		1901	4108	6009	-	-	-	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.41A>T	15.37:g.27114436A>T	ENSP00000335592:p.Asn14Ile		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.N14I	ENST00000335625.5	37	c.41	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200676	0.38905	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000555060;ENST00000554599	T;T;T;T;T;T	0.80304	-0.51;-0.51;-0.51;-1.14;-1.04;-1.36	5.82	1.97	0.26223	.	0.693252	0.14819	N	0.296562	T	0.60766	0.2294	N	0.08118	0	0.25226	N	0.989865	B	0.13594	0.008	B	0.09377	0.004	T	0.45145	-0.9281	10	0.22706	T	0.39	.	10.9479	0.47312	0.4995:0.5005:0.0:0.0	.	14	P31644	GBRA5_HUMAN	I	14	ENSP00000335592:N14I;ENSP00000347557:N14I;ENSP00000382953:N14I;ENSP00000451527:N14I;ENSP00000450806:N14I;ENSP00000450717:N14I	ENSP00000335592:N14I	N	+	2	0	GABRA5	24665529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.778000	0.38614	0.436000	0.26393	0.533000	0.62120	AAC	GABRA5	-	NULL	ENSG00000186297		0.378	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	173	0.00	0	A			27114436	27114436	+1	no_errors	ENST00000335625	ensembl	human	known	69_37n	missense	252	41.94	182	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8115746	8115746	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr10:8115746A>T	ENST00000346208.3	+	6	1547	c.1092A>T	c.(1090-1092)agA>agT	p.R364S	GATA3_ENST00000379328.3_Missense_Mutation_p.R365S|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	364					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R365S(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCAGACCAGAAACCGAAAAA	0.408			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Substitution - Missense(1)	breast(1)											55.0	60.0	58.0					10																	8115746		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1092A>T	10.37:g.8115746A>T	ENSP00000341619:p.Arg364Ser		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.R365S	ENST00000346208.3	37	c.1095	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792629	0.50102	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99698	-6.44;-6.44	5.26	4.13	0.48395	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.053877	0.64402	D	0.000001	D	0.99594	0.9853	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98485	1.0607	10	0.87932	D	0	-11.3827	10.9219	0.47169	0.9263:0.0:0.0737:0.0	.	364;365	P23771;P23771-2	GATA3_HUMAN;.	S	365;364	ENSP00000368632:R365S;ENSP00000341619:R364S	ENSP00000341619:R364S	R	+	3	2	GATA3	8155752	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.411000	0.34702	0.842000	0.35045	-0.464000	0.05259	AGA	GATA3	-	pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.408	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	71	0.00	0	A	NM_001002295		8115746	8115746	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	missense	63	22.22	18	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	G	rs144824106		TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr10:8115874_8115875insG	ENST00000346208.3	+	6	1675_1676	c.1220_1221insG	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1221dupG	10.37:g.8115875_8115875dupG	ENSP00000341619:p.Pro408fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	63	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	51	32.89	25	INS	0.903:0.359	G
GPR125	166647	genome.wustl.edu	37	4	22438157	22438157	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr4:22438157C>T	ENST00000334304.5	-	9	1462	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	GPR125_ENST00000508133.1_Missense_Mutation_p.R172H|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R398H	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	398					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCACATCTGCGCCAAGCTTT	0.448																																						dbGAP											0													116.0	103.0	107.0					4																	22438157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1193G>A	4.37:g.22438157C>T	ENSP00000334952:p.Arg398His		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.R398H	ENST00000334304.5	37	c.1193	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.398605	0.96030	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.69685	-0.42;-0.42;-0.42	6.04	6.04	0.98038	GPCR, family 2, extracellular hormone receptor domain (2);	0.047789	0.85682	D	0.000000	T	0.81153	0.4763	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.998;0.934;0.98	T	0.80645	-0.1290	10	0.72032	D	0.01	-28.0055	20.5948	0.99439	0.0:1.0:0.0:0.0	.	273;398;172;398	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	H	398;172;398	ENSP00000334952:R398H;ENSP00000422606:R172H;ENSP00000421006:R398H	ENSP00000334952:R398H	R	-	2	0	GPR125	22047255	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.020000	0.76419	2.873000	0.98535	0.563000	0.77884	CGC	GPR125	-	pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000152990		0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	154	0.00	0	C			22438157	22438157	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90079837	90079838	+	Frame_Shift_Ins	INS	-	-	A	rs372079060		TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr5:90079837_90079838insA	ENST00000405460.2	+	67	13712_13713	c.13616_13617insA	c.(13615-13620)gtgctgfs	p.L4540fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.L201fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4540	Calx-beta 31. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTATCACTGGTGCTGGAGCGGA	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.90079837_90079838insA	ENSP00000384582:p.Leu4540fs		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L4540fs	ENST00000405460.2	37	c.13616_13617	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.371	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	45	0.00	0	-	NM_032119		90079837	90079838	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	1.000:0.919	A
GRXCR2	643226	genome.wustl.edu	37	5	145252330	145252330	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr5:145252330C>T	ENST00000377976.1	-	1	201	c.202G>A	c.(202-204)Ggg>Agg	p.G68R		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	68						cell projection (GO:0042995)		p.G68R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGACTTCCCCAGACCCATAA	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	84.0	84.0					5																	145252330		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.202G>A	5.37:g.145252330C>T	ENSP00000367214:p.Gly68Arg			Missense_Mutation	SNP	NULL	p.G68R	ENST00000377976.1	37	c.202	CCDS34263.1	5	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838078	0.50951	.	.	ENSG00000204928	ENST00000377976	T	0.55234	0.53	5.6	5.6	0.85130	.	0.298888	0.37577	N	0.002035	T	0.65417	0.2689	L	0.54323	1.7	0.44976	D	0.997997	D	0.69078	0.997	P	0.62813	0.907	T	0.56498	-0.7969	10	0.17832	T	0.49	-18.0587	18.7401	0.91770	0.0:1.0:0.0:0.0	.	68	A6NFK2	GRCR2_HUMAN	R	68	ENSP00000367214:G68R	ENSP00000367214:G68R	G	-	1	0	GRXCR2	145232523	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	2.695000	0.47043	2.786000	0.95864	0.561000	0.74099	GGG	GRXCR2	-	NULL	ENSG00000204928		0.527	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	GRXCR2	HGNC	protein_coding	OTTHUMT00000373289.2	83	0.00	0	C			145252330	145252330	-1	no_errors	ENST00000377976	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	T
HIPK2	28996	genome.wustl.edu	37	7	139297952	139297952	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:139297952G>C	ENST00000406875.3	-	9	2202	c.2108C>G	c.(2107-2109)gCc>gGc	p.A703G	HIPK2_ENST00000428878.2_Missense_Mutation_p.A676G|HIPK2_ENST00000342645.6_Missense_Mutation_p.A703G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	703	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.A703G(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AATTACCTGGGCAAGCAGACC	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											55.0	61.0	59.0					7																	139297952		1939	4146	6085	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2108C>G	7.37:g.139297952G>C	ENSP00000385571:p.Ala703Gly		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A703G	ENST00000406875.3	37	c.2108		7	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603204	0.87157	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.53206	0.63;0.65;0.63	5.08	5.08	0.68730	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.58432	D	0.99999	P;P	0.39665	0.682;0.59	B;B	0.33121	0.108;0.158	T	0.28586	-1.0039	8	0.34782	T	0.22	.	19.0333	0.92967	0.0:0.0:1.0:0.0	.	703;676	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	G	703;676;703	ENSP00000385571:A703G;ENSP00000413724:A676G;ENSP00000343108:A703G	ENSP00000343108:A703G	A	-	2	0	HIPK2	138948492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.407000	0.97325	2.793000	0.96121	0.655000	0.94253	GCC	HIPK2	-	NULL	ENSG00000064393		0.453	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	77	0.00	0	G	NM_022740		139297952	139297952	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	13	50.00	14	SNP	1.000	C
HTN3	3347	genome.wustl.edu	37	4	70898889	70898889	+	Silent	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr4:70898889G>A	ENST00000530128.1	+	5	183	c.108G>A	c.(106-108)aaG>aaA	p.K36K	HTN3_ENST00000381057.3_Silent_p.K26K|HTN3_ENST00000526767.1_Silent_p.K36K			P15516	HIS3_HUMAN	histatin 3	36					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.K36K(1)		breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						TGCAGGAAAAGCATCATTCAC	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											137.0	123.0	128.0					4																	70898889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33999.1	4q13	2008-08-29							5284	protein-coding gene	gene with protein product		142702					Standard	NM_000200		Approved	HIS2	uc003hew.2	P15516		ENST00000530128.1:c.108G>A	4.37:g.70898889G>A			Q16243|Q502Z1	Silent	SNP	NULL	p.K36	ENST00000530128.1	37	c.108	CCDS33999.1	4																																																																																			HTN3	-	NULL	ENSG00000205649		0.378	HTN3-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	HTN3	HGNC	protein_coding	OTTHUMT00000387375.1	154	0.00	0	G	NM_000200		70898889	70898889	+1	no_errors	ENST00000526767	ensembl	human	known	69_37n	silent	94	24.80	31	SNP	0.000	A
IGKV3D-20	28874	genome.wustl.edu	37	2	90078097	90078097	+	RNA	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr2:90078097C>T	ENST00000390270.2	+	0	231									immunoglobulin kappa variable 3D-20																		TCCTGCGGGGCCAGTCAGAGT	0.567																																						dbGAP											0													76.0	78.0	77.0					2																	90078097		1888	4119	6007	-	-	-			0			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078097C>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A45V	ENST00000390270.2	37	c.134		2																																																																																			IGKV3D-20	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211625		0.567	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-20	HGNC	IG_V_gene	OTTHUMT00000323287.1	150	0.00	0	C	NG_000833		90078097	90078097	+1	no_stop_codon	ENST00000390270	ensembl	human	known	69_37n	missense	52	35.00	28	SNP	0.824	T
IL13RA2	3598	genome.wustl.edu	37	X	114242577	114242577	+	Silent	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chrX:114242577G>A	ENST00000371936.1	-	9	1164	c.915C>T	c.(913-915)tgC>tgT	p.C305C	IL13RA2_ENST00000243213.1_Silent_p.C305C			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	305	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.C305C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TTACTACAAAGCATAATTGTC	0.368																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											248.0	208.0	222.0					X																	114242577		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.915C>T	X.37:g.114242577G>A			A8K7E2|O00667	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.C305	ENST00000371936.1	37	c.915	CCDS14565.1	X																																																																																			IL13RA2	-	superfamily_Fibronectin_type3	ENSG00000123496		0.368	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	336	0.00	0	G	NM_000640		114242577	114242577	-1	no_errors	ENST00000243213	ensembl	human	known	69_37n	silent	49	50.00	49	SNP	0.940	A
IMPDH1	3614	genome.wustl.edu	37	7	128041163	128041163	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:128041163G>T	ENST00000480861.1	-	3	232	c.155C>A	c.(154-156)aCc>aAc	p.T52N	IMPDH1_ENST00000354269.5_Missense_Mutation_p.T127N|IMPDH1_ENST00000338791.6_Missense_Mutation_p.T137N|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T104N|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T52N|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T101N|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T52N|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T52N|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T68N	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.T137N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAGGGCTGAGGTCAGGTCCTG	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											73.0	57.0	63.0					7																	128041163		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.155C>A	7.37:g.128041163G>T	ENSP00000420185:p.Thr52Asn			Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH	p.T137N	ENST00000480861.1	37	c.410	CCDS55161.1	7	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618060	0.66787	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	T;T;T;T;T;T;T;T;T;T;T	0.78481	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.18;-1.16	4.95	4.95	0.65309	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.097704	0.64402	D	0.000001	T	0.80618	0.4657	M	0.63208	1.945	0.80722	D	1	B;B;B;B;B;B;B;B	0.28783	0.222;0.007;0.003;0.02;0.022;0.019;0.024;0.011	B;B;B;B;B;B;B;B	0.40444	0.329;0.042;0.026;0.071;0.065;0.024;0.07;0.047	T	0.80341	-0.1423	10	0.51188	T	0.08	-21.7022	15.7182	0.77685	0.0:0.0:1.0:0.0	.	104;52;52;68;127;101;137;52	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	N	104;137;52;127;68;101;52;52;52;68;68	ENSP00000399400:T104N;ENSP00000345096:T137N;ENSP00000420803:T52N;ENSP00000346219:T127N;ENSP00000367989:T68N;ENSP00000265385:T101N;ENSP00000342438:T52N;ENSP00000417296:T52N;ENSP00000420185:T52N;ENSP00000419609:T68N;ENSP00000418592:T68N	ENSP00000345096:T137N	T	-	2	0	IMPDH1	127828399	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.490000	0.97952	2.294000	0.77228	0.655000	0.94253	ACC	IMPDH1	-	pfam_IMP_DH_GMPRt,tigrfam_IMP_DH	ENSG00000106348		0.587	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	41	0.00	0	G	NM_000883		128041163	128041163	-1	no_errors	ENST00000338791	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	T
KDM5A	5927	genome.wustl.edu	37	12	465641	465641	+	Silent	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr12:465641C>T	ENST00000399788.2	-	6	1097	c.735G>A	c.(733-735)ggG>ggA	p.G245G	KDM5A_ENST00000382815.4_Silent_p.G245G	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	245					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G245G(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAACCTTGGGCCCAGCCCCAA	0.353			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	2	Substitution - coding silent(2)	breast(2)											89.0	86.0	87.0					12																	465641		1803	4077	5880	-	-	-	SO:0001819	synonymous_variant	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.735G>A	12.37:g.465641C>T			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.G245	ENST00000399788.2	37	c.735	CCDS41736.1	12																																																																																			KDM5A	-	NULL	ENSG00000073614		0.353	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	200	0.50	1	C	NM_005056		465641	465641	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	silent	82	28.70	33	SNP	0.935	T
KIAA1549	57670	genome.wustl.edu	37	7	138602615	138602615	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:138602615G>A	ENST00000422774.1	-	2	1805	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P536L|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P586L			Q9HCM3	K1549_HUMAN	KIAA1549	586	Ser-rich.					integral component of membrane (GO:0016021)		p.P536L(1)|p.P586L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAAACACTCGGGTCTCTGAC	0.463			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	dbGAP		Dom	yes		7	7q34	57670	KIAA1549		O	2	Substitution - Missense(2)	breast(2)											65.0	67.0	67.0					7																	138602615		1968	4144	6112	-	-	-	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1757C>T	7.37:g.138602615G>A	ENSP00000416040:p.Pro586Leu		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.P586L	ENST00000422774.1	37	c.1757	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542403	0.27563	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.93;1.94;1.93	3.97	0.609	0.17575	.	1.176920	0.06295	N	0.699877	T	0.16727	0.0402	L	0.29908	0.895	0.09310	N	0.999997	P;P	0.46327	0.804;0.876	B;B	0.34138	0.085;0.176	T	0.29397	-1.0013	10	0.51188	T	0.08	.	9.1303	0.36841	0.0:0.0:0.3844:0.6156	.	586;586	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	586;536;586	ENSP00000406661:P586L;ENSP00000242365:P536L;ENSP00000416040:P586L	ENSP00000242365:P536L	P	-	2	0	KIAA1549	138253155	0.012000	0.17670	0.001000	0.08648	0.022000	0.10575	1.327000	0.33746	0.315000	0.23110	0.591000	0.81541	CCG	KIAA1549	-	NULL	ENSG00000122778		0.463	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	59	0.00	0	G			138602615	138602615	-1	no_errors	ENST00000422774	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	0.000	A
LRRC37A4P	55073	genome.wustl.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						dbGAP											0																																										-	-	-			0			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG				RNA	INS	-	NULL	ENST00000579913.1	37	NULL		17																																																																																			LRRC37A4P	-	-	ENSG00000214425		0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1	133	0.75	1	-	NR_002940		43591984	43591985	-1	no_errors	ENST00000579913	ensembl	human	known	69_37n	rna	61	11.59	8	INS	0.000:0.000	G
KMT2C	58508	genome.wustl.edu	37	7	151877956	151877957	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:151877956_151877957insAA	ENST00000262189.6	-	36	7206_7207	c.6988_6989insTT	c.(6988-6990)tcafs	p.S2330fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.S2330fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2330					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTCCCCTCTGATCCAGGCCTT	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6988_6989insTT	7.37:g.151877956_151877957insAA	ENSP00000262189:p.Ser2330fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2330fs	ENST00000262189.6	37	c.6989_6988	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.505	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	85	0.00	0	-			151877956	151877957	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.132:0.026	AA
KMT2C	58508	genome.wustl.edu	37	7	151877960	151877961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:151877960_151877961insT	ENST00000262189.6	-	36	7202_7203	c.6984_6985insA	c.(6982-6987)cctggafs	p.G2329fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G2329fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2329					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCCTCTGATCCAGGCCTTGGCT	0.515																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6984_6985insA	7.37:g.151877960_151877961insT	ENSP00000262189:p.Gly2329fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G2328fs	ENST00000262189.6	37	c.6985_6984	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.515	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	84	0.00	0	-			151877960	151877961	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.997:0.994	T
MPDZ	8777	genome.wustl.edu	37	9	13219576	13219577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr9:13219576_13219577insT	ENST00000319217.7	-	8	1314_1315	c.1067_1068insA	c.(1066-1068)actfs	p.T356fs	MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.T356fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	356					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGGTGTTGAAGTTGGGGATGA	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1067_1068insA	9.37:g.13219576_13219577insT	ENSP00000320006:p.Thr356fs		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Ins	INS	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.S357fs	ENST00000319217.7	37	c.1068_1067		9																																																																																			MPDZ	-	superfamily_PDZ	ENSG00000107186		0.426	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	119	0.00	0	-	NM_003829		13219576	13219577	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	0.001:0.024	T
MPDZ	8777	genome.wustl.edu	37	9	13219578	13219579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr9:13219578_13219579insG	ENST00000319217.7	-	8	1312_1313	c.1065_1066insC	c.(1063-1068)ccaactfs	p.T356fs	MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.T356fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.T356fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	356					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTGTTGAAGTTGGGGATGAGG	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1065_1066insC	9.37:g.13219578_13219579insG	ENSP00000320006:p.Thr356fs		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Ins	INS	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T355fs	ENST00000319217.7	37	c.1066_1065		9																																																																																			MPDZ	-	superfamily_PDZ	ENSG00000107186		0.421	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	123	0.00	0	-	NM_003829		13219578	13219579	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	0.000:0.000	G
MTF2	22823	genome.wustl.edu	37	1	93599279	93599280	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr1:93599279_93599280insA	ENST00000370298.4	+	12	1469_1470	c.1180_1181insA	c.(1180-1182)gaafs	p.E394fs	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Frame_Shift_Ins_p.E292fs|MTF2_ENST00000370303.4_Frame_Shift_Ins_p.E337fs|MTF2_ENST00000545708.1_Frame_Shift_Ins_p.E292fs	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	394					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAATGGCATAGAAAAAAAAGGA	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1188dupA	1.37:g.93599287_93599287dupA	ENSP00000359321:p.Glu394fs		A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G397fs	ENST00000370298.4	37	c.1180_1181	CCDS742.1	1																																																																																			MTF2	-	NULL	ENSG00000143033		0.347	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	99	0.00	0	-	NM_007358		93599279	93599280	+1	no_errors	ENST00000370298	ensembl	human	known	69_37n	frame_shift_ins	45	31.82	21	INS	1.000:0.994	A
NLRP4	147945	genome.wustl.edu	37	19	56369409	56369409	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr19:56369409C>T	ENST00000301295.6	+	3	1072	c.650C>T	c.(649-651)aCa>aTa	p.T217I	NLRP4_ENST00000587891.1_Missense_Mutation_p.T142I|NLRP4_ENST00000346986.5_Missense_Mutation_p.T217I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	217	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T217I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCTATAACAGAGATCGTG	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											82.0	82.0	82.0					19																	56369409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.650C>T	19.37:g.56369409C>T	ENSP00000301295:p.Thr217Ile		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T217I	ENST00000301295.6	37	c.650	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933980	0.52866	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.79247	-1.25;-1.25	4.1	-4.75	0.03239	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.63367	0.2505	L	0.31578	0.945	0.09310	N	1	P;P;P	0.52692	0.88;0.955;0.955	P;P;P	0.48598	0.583;0.51;0.564	T	0.55927	-0.8063	9	0.40728	T	0.16	.	1.059	0.01596	0.3715:0.2205:0.2439:0.1641	.	217;142;217	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	217	ENSP00000301295:T217I;ENSP00000344787:T217I	ENSP00000301295:T217I	T	+	2	0	NLRP4	61061221	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.583000	0.02115	-0.834000	0.04239	0.655000	0.94253	ACA	NLRP4	-	pfscan_NACHT_NTPase	ENSG00000160505		0.537	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	37	0.00	0	C	NM_134444		56369409	56369409	+1	no_errors	ENST00000301295	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.000	T
OLFML1	283298	genome.wustl.edu	37	11	7530894	7530894	+	Silent	SNP	T	T	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr11:7530894T>C	ENST00000329293.3	+	3	1078	c.684T>C	c.(682-684)caT>caC	p.H228H	OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.H228H	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	228	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.H228H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TATTTTTTCATAACCAAGCAA	0.458																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											54.0	55.0	55.0					11																	7530894		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.684T>C	11.37:g.7530894T>C			B4DP03|Q569G4	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.H228	ENST00000329293.3	37	c.684	CCDS7779.1	11																																																																																			OLFML1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000183801		0.458	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	82	0.00	0	T	NM_198474		7530894	7530894	+1	no_errors	ENST00000329293	ensembl	human	known	69_37n	silent	39	27.78	15	SNP	0.339	C
OSBPL3	26031	genome.wustl.edu	37	7	24902870	24902870	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:24902870G>T	ENST00000313367.2	-	9	1270	c.819C>A	c.(817-819)caC>caA	p.H273Q	OSBPL3_ENST00000353930.1_Missense_Mutation_p.H273Q|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.H273Q|OSBPL3_ENST00000409069.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	273					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.H273Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCCACCTCCTGTGCGATCTTT	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											132.0	114.0	120.0					7																	24902870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.819C>A	7.37:g.24902870G>T	ENSP00000315410:p.His273Gln		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H273Q	ENST00000313367.2	37	c.819	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135061	0.21123	.	.	ENSG00000070882	ENST00000313367;ENST00000353930;ENST00000396429	T;T;T	0.40476	2.36;1.03;1.03	5.87	0.447	0.16608	.	0.302546	0.36268	N	0.002685	T	0.28366	0.0701	L	0.48362	1.52	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.0	B;B;B	0.13407	0.009;0.006;0.002	T	0.05178	-1.0901	10	0.25106	T	0.35	-1.1978	4.8001	0.13292	0.1691:0.089:0.5579:0.184	.	273;273;273	Q9H4L5-7;Q9H4L5-3;Q9H4L5	.;.;OSBL3_HUMAN	Q	273	ENSP00000315410:H273Q;ENSP00000315277:H273Q;ENSP00000379706:H273Q	ENSP00000315410:H273Q	H	-	3	2	OSBPL3	24869395	0.877000	0.30153	0.977000	0.42913	0.704000	0.40688	-0.062000	0.11674	0.122000	0.18314	-0.808000	0.03180	CAC	OSBPL3	-	NULL	ENSG00000070882		0.468	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	71	0.00	0	G			24902870	24902870	-1	no_errors	ENST00000313367	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	0.993	T
OTOP2	92736	genome.wustl.edu	37	17	72927091	72927091	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr17:72927091T>C	ENST00000580223.1	+	5	1391	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	OTOP2_ENST00000331427.4_Missense_Mutation_p.L454P			Q7RTS6	OTOP2_HUMAN	otopetrin 2	454						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGGATGCCCTCCACACGTTG	0.652																																						dbGAP											0													99.0	82.0	88.0					17																	72927091		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1361T>C	17.37:g.72927091T>C	ENSP00000463837:p.Leu454Pro			Missense_Mutation	SNP	pfam_Otopetrin	p.L454P	ENST00000580223.1	37	c.1361	CCDS11708.1	17	.	.	.	.	.	.	.	.	.	.	T	7.202	0.593626	0.13875	.	.	ENSG00000183034	ENST00000331427	T	0.11063	2.81	5.04	3.97	0.46021	.	0.848882	0.10530	N	0.663916	T	0.10508	0.0257	L	0.43152	1.355	0.42059	D	0.991159	B	0.02656	0.0	B	0.08055	0.003	T	0.08554	-1.0716	10	0.30854	T	0.27	-15.4318	8.8291	0.35074	0.0:0.0853:0.0:0.9147	.	454	Q7RTS6	OTOP2_HUMAN	P	454	ENSP00000332528:L454P	ENSP00000332528:L454P	L	+	2	0	OTOP2	70438686	0.917000	0.31117	1.000000	0.80357	0.055000	0.15305	2.056000	0.41355	1.905000	0.55150	0.379000	0.24179	CTC	OTOP2	-	NULL	ENSG00000183034		0.652	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	35	0.00	0	T	NM_178160		72927091	72927091	+1	no_errors	ENST00000331427	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	C
PFKP	5214	genome.wustl.edu	37	10	3159021	3159021	+	Silent	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr10:3159021C>T	ENST00000381125.4	+	14	1501	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	PFKP_ENST00000381075.2_Silent_p.S467S	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	475	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.S475S(1)|p.S467S(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AAGGAGGCTCCATTCTTGGGA	0.488																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											121.0	124.0	123.0					10																	3159021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1425C>T	10.37:g.3159021C>T			B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,prints_Phosphofructokinase	p.H39Y	ENST00000381125.4	37	c.115	CCDS7059.1	10	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316193	0.10789	.	.	ENSG00000067057	ENST00000413079	.	.	.	5.37	-1.51	0.08664	.	.	.	.	.	T	0.40272	0.1110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	.	2.14	0.03772	0.2488:0.4372:0.0824:0.2317	.	.	.	.	Y	39	.	.	H	+	1	0	PFKP	3149021	0.562000	0.26586	0.982000	0.44146	0.444000	0.32077	-0.181000	0.09740	-0.053000	0.13289	0.561000	0.74099	CAT	PFKP	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom	ENSG00000067057		0.488	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1	111	0.00	0	C	NM_002627		3159021	3159021	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000413079	ensembl	human	known	69_37n	missense	125	21.25	34	SNP	0.994	T
PI4KB	5298	genome.wustl.edu	37	1	151265399	151265399	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr1:151265399C>T	ENST00000368873.1	-	12	2548	c.2380G>A	c.(2380-2382)Gat>Aat	p.D794N	PI4KB_ENST00000368875.2_Missense_Mutation_p.D806N|PI4KB_ENST00000368872.1_Missense_Mutation_p.D779N|PI4KB_ENST00000529142.1_Missense_Mutation_p.D462N|PI4KB_ENST00000368874.4_Missense_Mutation_p.D779N|PI4KB_ENST00000271657.5_Missense_Mutation_p.D806N			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	794					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.D806N(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACTGCCATCCACCATCTGC	0.562																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											1	Substitution - Missense(1)	breast(1)											130.0	121.0	124.0					1																	151265399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2380G>A	1.37:g.151265399C>T	ENSP00000357867:p.Asp794Asn		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D806N	ENST00000368873.1	37	c.2416		1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411750	0.83340	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.54	5.54	0.83059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.046927	0.85682	D	0.000000	T	0.05044	0.0135	N	0.20986	0.625	0.80722	D	1	B;B;B	0.23128	0.006;0.08;0.004	B;B;B	0.17722	0.004;0.019;0.006	T	0.31779	-0.9931	10	0.26408	T	0.33	-18.6859	17.0271	0.86450	0.0:1.0:0.0:0.0	.	794;779;462	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	N	779;806;806;794;462;779;205	ENSP00000357868:D779N;ENSP00000357869:D806N;ENSP00000271657:D806N;ENSP00000357867:D794N;ENSP00000433149:D462N;ENSP00000357866:D779N;ENSP00000410974:D205N	ENSP00000271657:D806N	D	-	1	0	PI4KB	149532023	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.016000	0.76393	2.884000	0.98904	0.655000	0.94253	GAT	PI4KB	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000143393		0.562	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	86	0.00	0	C	NM_002651		151265399	151265399	-1	no_errors	ENST00000271657	ensembl	human	known	69_37n	missense	79	20.20	20	SNP	1.000	T
PLXNA1	5361	genome.wustl.edu	37	3	126739137	126739137	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr3:126739137C>T	ENST00000393409.2	+	20	3988	c.3988C>T	c.(3988-3990)Cgg>Tgg	p.R1330W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1307W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1330					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.R1307W(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATATGCCATGCGGGTGCTCTT	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											94.0	77.0	83.0					3																	126739137		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3988C>T	3.37:g.126739137C>T	ENSP00000377061:p.Arg1330Trp			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1330W	ENST00000393409.2	37	c.3988	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794862	0.70452	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.15718	2.4;2.4	3.96	2.99	0.34606	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.64402	D	0.000020	T	0.47728	0.1461	M	0.90870	3.155	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.60490	-0.7253	10	0.87932	D	0	.	12.6414	0.56712	0.2505:0.7495:0.0:0.0	.	1330	Q9UIW2	PLXA1_HUMAN	W	1330;1307	ENSP00000377061:R1330W;ENSP00000251772:R1307W	ENSP00000251772:R1307W	R	+	1	2	PLXNA1	128221827	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.041000	0.41213	2.187000	0.69744	0.585000	0.79938	CGG	PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000114554		0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	35	0.00	0	C	NM_032242		126739137	126739137	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	1.000	T
PPP1R3A	5506	genome.wustl.edu	37	7	113520082	113520082	+	Silent	SNP	C	C	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr7:113520082C>A	ENST00000284601.3	-	4	1133	c.1065G>T	c.(1063-1065)ggG>ggT	p.G355G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	355					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G355G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTCTCTAACCCCTCTGCTT	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											181.0	180.0	180.0					7																	113520082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1065G>T	7.37:g.113520082C>A			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.G355	ENST00000284601.3	37	c.1065	CCDS5759.1	7																																																																																			PPP1R3A	-	NULL	ENSG00000154415		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	183	0.00	0	C	NM_002711		113520082	113520082	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	silent	51	20.00	13	SNP	0.009	A
PPP2R5C	5527	genome.wustl.edu	37	14	102384167	102384167	+	Splice_Site	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr14:102384167G>A	ENST00000334743.5	+	13	1374		c.e13-1		PPP2R5C_ENST00000422945.2_Splice_Site|PPP2R5C_ENST00000350249.3_Intron|PPP2R5C_ENST00000328724.5_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGCATTGCAGTACACAGTGT	0.537																																						dbGAP											1	Unknown(1)	breast(1)											162.0	137.0	145.0					14																	102384167		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1327-1G>A	14.37:g.102384167G>A			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Splice_Site	SNP	-	e15-1	ENST00000334743.5	37	c.1420-1	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089581	0.76756	.	.	ENSG00000078304	ENST00000422945;ENST00000557268;ENST00000334743;ENST00000555237	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2502	0.93921	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5C	101453920	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.979000	0.93455	2.619000	0.88677	0.561000	0.74099	.	PPP2R5C	-	-	ENSG00000078304		0.537	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	75	0.00	0	G	NM_002719	Intron	102384167	102384167	+1	no_errors	ENST00000422945	ensembl	human	known	69_37n	splice_site	46	24.19	15	SNP	1.000	A
PRMT6	55170	genome.wustl.edu	37	1	107600277	107600277	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr1:107600277C>T	ENST00000370078.1	+	1	977	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S	PRMT6_ENST00000361318.5_Missense_Mutation_p.P255S			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	314	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.P255S(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCCTTTTCACCCGGCCACTCA	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											42.0	46.0	45.0					1																	107600277		1974	4150	6124	-	-	-	SO:0001583	missense	0			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.940C>T	1.37:g.107600277C>T	ENSP00000359095:p.Pro314Ser		A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.P314S	ENST00000370078.1	37	c.940	CCDS41360.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.413120|2.413120	0.42817|0.42817	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000540389|ENST00000361318;ENST00000370078	.|T;T	.|0.78003	.|-1.14;-1.14	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.360918|0.360918	0.26532|0.26532	N|N	0.023853|0.023853	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.78456|0.78456	2.415|2.415	0.29858|0.29858	N|N	0.827872|0.827872	.|B	.|0.33826	.|0.427	.|B	.|0.37601	.|0.254	T|T	0.71632|0.71632	-0.4534|-0.4534	7|10	0.87932|0.56958	D|D	0|0.05	-12.3943|-12.3943	12.622|12.622	0.56607|0.56607	0.0:0.8334:0.1666:0.0|0.0:0.8334:0.1666:0.0	.|.	.|314	.|Q96LA8	.|ANM6_HUMAN	L|S	207|255;314	.|ENSP00000355145:P255S;ENSP00000359095:P314S	ENSP00000440829:P207L|ENSP00000355145:P255S	P|P	+|+	2|1	0|0	PRMT6|PRMT6	107401800|107401800	0.962000|0.962000	0.33011|0.33011	0.989000|0.989000	0.46669|0.46669	0.412000|0.412000	0.31113|0.31113	2.029000|2.029000	0.41098|0.41098	2.584000|2.584000	0.87258|0.87258	0.442000|0.442000	0.29010|0.29010	CCC|CCG	PRMT6	-	pfam_Arg_MeTrfase	ENSG00000198890		0.622	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	HGNC	protein_coding	OTTHUMT00000030185.1	33	0.00	0	C	NM_018137		107600277	107600277	+1	no_errors	ENST00000370078	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.870	T
SEC14L4	284904	genome.wustl.edu	37	22	30891919	30891919	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr22:30891919C>T	ENST00000255858.7	-	3	253	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	SEC14L4_ENST00000392772.2_Missense_Mutation_p.R3Q|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R57Q|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E26K	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	57						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R57Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCTTACCCTTCGGAGCATGTC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	68.0	76.0					22																	30891919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.170G>A	22.37:g.30891919C>T	ENSP00000255858:p.Arg57Gln		A5D6W7|A6NCV4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.R57Q	ENST00000255858.7	37	c.170	CCDS13878.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	22.3|22.3	4.270934|4.270934	0.80469|0.80469	.|.	.|.	ENSG00000133488|ENSG00000133488	ENST00000540456|ENST00000255858;ENST00000392772;ENST00000381982	T|D;T;D	0.69306|0.85861	-0.39|-2.04;-0.45;-2.04	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91175|0.91175	0.7220|0.7220	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	B|D;D	0.28378|0.89917	0.209|1.0;1.0	B|D;D	0.23716|0.68353	0.048|0.931;0.957	D|D	0.90131|0.90131	0.4206|0.4206	9|10	0.42905|0.35671	T|T	0.14|0.21	-0.3015|-0.3015	14.9135|14.9135	0.70776|0.70776	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	26|3;57	G3V1L4|B3KSF0;Q9UDX3	.|.;S14L4_HUMAN	K|Q	26|57;3;57	ENSP00000440848:E26K|ENSP00000255858:R57Q;ENSP00000376525:R3Q;ENSP00000371412:R57Q	ENSP00000440848:E26K|ENSP00000255858:R57Q	E|R	-|-	1|2	0|0	SEC14L4|SEC14L4	29221919|29221919	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.324000|0.324000	0.28378|0.28378	6.443000|6.443000	0.73447|0.73447	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	GAA|CGA	SEC14L4	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran	ENSG00000133488		0.512	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	47	0.00	0	C	NM_174977		30891919	30891919	-1	no_errors	ENST00000255858	ensembl	human	known	69_37n	missense	26	37.21	16	SNP	1.000	T
SENP7	57337	genome.wustl.edu	37	3	101136588	101136588	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr3:101136588G>C	ENST00000394095.2	-	5	384	c.331C>G	c.(331-333)Cga>Gga	p.R111G	SENP7_ENST00000348610.3_Missense_Mutation_p.R78G|SENP7_ENST00000394094.2_Missense_Mutation_p.R111G|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	111						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R111G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGAATTTTCGTCCTAAATCC	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											147.0	143.0	144.0					3																	101136588		1890	4111	6001	-	-	-	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.331C>G	3.37:g.101136588G>C	ENSP00000377655:p.Arg111Gly		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R111G	ENST00000394095.2	37	c.331	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770493	0.69992	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.69561	-0.41;-0.41;-0.41	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000076	T	0.77246	0.4102	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77958	-0.2392	10	0.66056	D	0.02	-8.2237	12.6357	0.56683	0.0:0.0:0.7933:0.2067	.	78;111	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	G	111;111;78	ENSP00000377655:R111G;ENSP00000377654:R111G;ENSP00000342159:R78G	ENSP00000342159:R78G	R	-	1	2	SENP7	102619278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.945000	0.56637	2.754000	0.94517	0.650000	0.86243	CGA	SENP7	-	NULL	ENSG00000138468		0.373	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	103	0.00	0	G	NM_020654		101136588	101136588	-1	no_errors	ENST00000394095	ensembl	human	known	69_37n	missense	38	36.07	22	SNP	1.000	C
SSTR4	6754	genome.wustl.edu	37	20	23016492	23016492	+	Silent	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr20:23016492C>T	ENST00000255008.3	+	1	436	c.372C>T	c.(370-372)agC>agT	p.S124S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	124					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.S124S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGTGCTCAGCGTCGACGGCC	0.687																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											1	Substitution - coding silent(1)	breast(1)											79.0	79.0	79.0					20																	23016492		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.372C>T	20.37:g.23016492C>T			Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.S124	ENST00000255008.3	37	c.372	CCDS42856.1	20																																																																																			SSTR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt	ENSG00000132671		0.687	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	28	0.00	0	C			23016492	23016492	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.993	T
TEX36	387718	genome.wustl.edu	37	10	127350434	127350434	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr10:127350434A>G	ENST00000368821.3	-	2	318	c.164T>C	c.(163-165)aTa>aCa	p.I55T		NM_001128202.1	NP_001121674.1	Q5VZQ5	TEX36_HUMAN	testis expressed 36	55								p.I55T(2)									GACTTTGTATATGGGCGGCAG	0.602																																						dbGAP											2	Substitution - Missense(2)	breast(2)											74.0	64.0	67.0					10																	127350434		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44493.1	10q26.13	2012-08-13	2012-08-13	2012-08-13	ENSG00000175018	ENSG00000175018			31653	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 122"""	C10orf122			Standard	NM_001128202		Approved	bA383C5.1	uc001lik.4	Q5VZQ5	OTTHUMG00000019229	ENST00000368821.3:c.164T>C	10.37:g.127350434A>G	ENSP00000357811:p.Ile55Thr		Q0P5T8	Missense_Mutation	SNP	NULL	p.I55T	ENST00000368821.3	37	c.164	CCDS44493.1	10	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422138	0.62622	.	.	ENSG00000175018	ENST00000532135;ENST00000526819;ENST00000368821	T;T;T	0.47177	0.85;0.85;0.85	4.24	4.24	0.50183	.	0.146689	0.32055	N	0.006641	T	0.63534	0.2519	M	0.71581	2.175	0.37390	D	0.912401	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.67245	-0.5719	10	0.38643	T	0.18	1.3869	10.0327	0.42109	1.0:0.0:0.0:0.0	.	55;55	Q5VZQ5;E9PJL2	CJ122_HUMAN;.	T	55	ENSP00000431764:I55T;ENSP00000434299:I55T;ENSP00000357811:I55T	ENSP00000357811:I55T	I	-	2	0	C10orf122	127340424	0.993000	0.37304	0.923000	0.36655	0.901000	0.52897	2.583000	0.46094	2.140000	0.66376	0.460000	0.39030	ATA	TEX36	-	NULL	ENSG00000175018		0.602	TEX36-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TEX36	HGNC	protein_coding	OTTHUMT00000050915.1	63	0.00	0	A	NM_001128202		127350434	127350434	-1	no_errors	ENST00000368821	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.945	G
THSD7B	80731	genome.wustl.edu	37	2	138169282	138169282	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr2:138169282C>A	ENST00000409968.1	+	14	2977	c.2799C>A	c.(2797-2799)aaC>aaA	p.N933K	THSD7B_ENST00000272643.3_Missense_Mutation_p.N933K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.N902K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	933	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.N933K(1)|p.N902K(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTATGGAAACTGGTCAGATT	0.478																																						dbGAP											2	Substitution - Missense(2)	breast(2)											139.0	134.0	135.0					2																	138169282		1925	4123	6048	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2799C>A	2.37:g.138169282C>A	ENSP00000387145:p.Asn933Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N933K	ENST00000409968.1	37	c.2799		2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584112	0.65992	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.84	-2.05	0.07321	.	0.095041	0.64402	D	0.000001	T	0.69396	0.3106	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.971	T	0.66048	-0.6020	10	0.28530	T	0.3	.	13.7716	0.63029	0.0:0.4737:0.0:0.5263	.	933;902	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	933;933;902	ENSP00000387145:N933K;ENSP00000272643:N933K;ENSP00000413841:N902K	ENSP00000272643:N933K	N	+	3	2	THSD7B	137885752	0.770000	0.28543	0.941000	0.38009	0.968000	0.65278	-0.062000	0.11674	-0.822000	0.04306	-0.262000	0.10625	AAC	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000144229		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	87	0.00	0	C	XM_046570.9		138169282	138169282	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	33	49.23	32	SNP	0.991	A
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49.0	49.0	49.0					17																	7578403		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	48	0.00	0	C	NM_000546		7578403	7578403	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	9	79.55	35	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179595258	179595259	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr2:179595258_179595259insA	ENST00000591111.1	-	59	17274_17275	c.17050_17051insT	c.(17050-17052)caafs	p.Q5684fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Ins_p.Q4757fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Frame_Shift_Ins_p.Q6001fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12489	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCACTGCATTGGTTGTGCCCT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17050_17051insT	2.37:g.179595258_179595259insA	ENSP00000465570:p.Gln5684fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q4757fs	ENST00000591111.1	37	c.14270_14269		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.386	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	72	0.00	0	-	NM_133378		179595258	179595259	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	1.000:1.000	A
WDR24	84219	genome.wustl.edu	37	16	737628	737628	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr16:737628C>T	ENST00000248142.6	-	6	982	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	WDR24_ENST00000293883.4_Missense_Mutation_p.R198Q|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	328								p.R198Q(1)|p.R328Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCTCTCGCACCGGTCGGGACG	0.627																																						dbGAP											2	Substitution - Missense(2)	breast(2)											101.0	84.0	90.0					16																	737628		2199	4300	6499	-	-	-	SO:0001583	missense	0			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.983G>A	16.37:g.737628C>T	ENSP00000248142:p.Arg328Gln		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R328Q	ENST00000248142.6	37	c.983		16	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381591	0.82792	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.28069	1.63;1.63	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	N	0.20881	0.62	0.80722	D	1	D	0.57257	0.979	P	0.45506	0.483	T	0.01858	-1.1259	10	0.33940	T	0.23	-11.25	17.5728	0.87940	0.0:1.0:0.0:0.0	.	198	Q96S15-2	.	Q	328;198	ENSP00000248142:R328Q;ENSP00000293883:R198Q	ENSP00000248142:R328Q	R	-	2	0	WDR24	677629	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	7.085000	0.76875	2.619000	0.88677	0.650000	0.86243	CGG	WDR24	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000127580		0.627	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		32	0.00	0	C	NM_032259		737628	737628	-1	no_errors	ENST00000248142	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	T
WDR75	84128	genome.wustl.edu	37	2	190332305	190332305	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr2:190332305T>C	ENST00000314761.4	+	14	1619	c.1559T>C	c.(1558-1560)aTa>aCa	p.I520T		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	520						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I520T(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTGAGGAAATAGTCACAATA	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											144.0	139.0	140.0					2																	190332305		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1559T>C	2.37:g.190332305T>C	ENSP00000314193:p.Ile520Thr		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I520T	ENST00000314761.4	37	c.1559	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	T	11.34	1.609843	0.28712	.	.	ENSG00000115368	ENST00000314761	T	0.03745	3.82	5.86	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);	0.143092	0.64402	N	0.000006	T	0.01976	0.0062	N	0.11341	0.13	0.43517	D	0.995789	B;B	0.13594	0.002;0.008	B;B	0.14023	0.003;0.01	T	0.34950	-0.9808	10	0.02654	T	1	-21.63	9.7461	0.40448	0.0:0.1495:0.0:0.8505	.	520;520	A8K330;Q8IWA0	.;WDR75_HUMAN	T	520	ENSP00000314193:I520T	ENSP00000314193:I520T	I	+	2	0	WDR75	190040550	0.969000	0.33509	0.993000	0.49108	0.990000	0.78478	1.703000	0.37846	1.152000	0.42452	0.528000	0.53228	ATA	WDR75	-	smart_WD40_repeat	ENSG00000115368		0.388	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	141	0.00	0	T	NM_032168		190332305	190332305	+1	no_errors	ENST00000314761	ensembl	human	known	69_37n	missense	24	65.22	45	SNP	0.995	C
ZBTB38	253461	genome.wustl.edu	37	3	141163018	141163018	+	Silent	SNP	T	T	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr3:141163018T>C	ENST00000514251.1	+	4	2067	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	ZBTB38_ENST00000441582.2_Silent_p.N596N|ZBTB38_ENST00000321464.5_Silent_p.N597N					zinc finger and BTB domain containing 38									p.N596N(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCAAATGAATGAGTCTGCAC	0.413																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											78.0	77.0	77.0					3																	141163018		1941	4142	6083	-	-	-	SO:0001819	synonymous_variant	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1788T>C	3.37:g.141163018T>C				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.N597	ENST00000514251.1	37	c.1791	CCDS43157.1	3																																																																																			ZBTB38	-	NULL	ENSG00000177311		0.413	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	55	0.00	0	T			141163018	141163018	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.000	C
ZFP37	7539	genome.wustl.edu	37	9	115806423	115806423	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr9:115806423T>C	ENST00000374227.3	-	4	502	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	ZFP37_ENST00000553380.1_Missense_Mutation_p.K174E|ZFP37_ENST00000555206.1_Missense_Mutation_p.K160E	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTATTTTTTTTCCCCAGTGAA	0.333																																						dbGAP											0													69.0	74.0	72.0					9																	115806423		2202	4295	6497	-	-	-	SO:0001583	missense	0			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.475A>G	9.37:g.115806423T>C	ENSP00000363344:p.Lys159Glu		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K174E	ENST00000374227.3	37	c.520	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	T	9.610	1.130902	0.21041	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.06933	3.24;3.28;3.33	4.31	-1.6	0.08426	.	0.846677	0.10103	N	0.715771	T	0.07773	0.0195	L	0.45051	1.395	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.004;0.006;0.003	T	0.35101	-0.9802	10	0.51188	T	0.08	0.1531	8.2746	0.31864	0.0:0.3656:0.0:0.6344	.	160;174;159	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	E	159;160;174	ENSP00000363344:K159E;ENSP00000451310:K160E;ENSP00000452552:K174E	ENSP00000363344:K159E	K	-	1	0	ZFP37	114846244	0.000000	0.05858	0.005000	0.12908	0.636000	0.38137	0.118000	0.15605	-0.279000	0.09167	0.533000	0.62120	AAA	ZFP37	-	NULL	ENSG00000136866		0.333	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	62	0.00	0	T	NM_003408		115806423	115806423	-1	no_errors	ENST00000553380	ensembl	human	known	69_37n	missense	52	22.06	15	SNP	0.073	C
ZNF233	353355	genome.wustl.edu	37	19	44770438	44770438	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr19:44770438G>A	ENST00000391958.2	+	3	230	c.103G>A	c.(103-105)Gat>Aat	p.D35N	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.R152K|ZNF233_ENST00000592581.1_Missense_Mutation_p.D35N|ZNF233_ENST00000589522.1_Missense_Mutation_p.D35N	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D35N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCTGTACCAAGATGTGATGCT	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											207.0	182.0	191.0					19																	44770438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.103G>A	19.37:g.44770438G>A	ENSP00000375820:p.Asp35Asn		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D35N	ENST00000391958.2	37	c.103	CCDS33047.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.186|9.186	1.024694|1.024694	0.19433|0.19433	.|.	.|.	ENSG00000159915|ENSG00000159915	ENST00000391958|ENST00000334152	T|T	0.02498|0.05855	4.27|3.38	4.04|4.04	0.349|0.349	0.16032|0.16032	Krueppel-associated box (4);|.	.|.	.|.	.|.	.|.	T|T	0.09818|0.09818	0.0241|0.0241	M|M	0.83223|0.83223	2.63|2.63	0.09310|0.09310	N|N	1|1	D|.	0.63880|.	0.993|.	P|.	0.61940|.	0.896|.	T|T	0.40924|0.40924	-0.9537|-0.9537	9|7	0.41790|0.02654	T|T	0.15|1	-1.1718|-1.1718	6.7767|6.7767	0.23624|0.23624	0.1059:0.3439:0.5502:0.0|0.1059:0.3439:0.5502:0.0	.|.	35|.	A6NK53|.	ZN233_HUMAN|.	N|K	35|152	ENSP00000375820:D35N|ENSP00000334957:R152K	ENSP00000375820:D35N|ENSP00000334957:R152K	D|R	+|+	1|2	0|0	ZNF233|ZNF233	49462278|49462278	0.069000|0.069000	0.21087|0.21087	0.025000|0.025000	0.17156|0.17156	0.834000|0.834000	0.47266|0.47266	1.525000|1.525000	0.35953|0.35953	0.768000|0.768000	0.33290|0.33290	0.511000|0.511000	0.50034|0.50034	GAT|AGA	ZNF233	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000159915		0.512	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	224	0.00	0	G	NM_181756		44770438	44770438	+1	no_errors	ENST00000391958	ensembl	human	known	69_37n	missense	72	27.27	27	SNP	0.001	A
PI4KB	5298	genome.wustl.edu	37	1	151261890	151261890	+	IGR	SNP	C	C	A			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr1:151261890C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.F836L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.F836L(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACACAGTCTTCACTCACAAAC	0.582																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											1	Substitution - Missense(1)	breast(1)											211.0	169.0	183.0					1																	151261890		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261890C>A			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S439*	ENST00000368873.1	37	c.1316		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.956810|2.956810	0.53293|0.53293	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.38722|.	1.12;1.12;1.12|.	5.13|5.13	4.22|4.22	0.49857|0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);|.	0.000000|.	0.37095|.	N|.	0.002245|.	T|.	0.70911|.	0.3278|.	M|M	0.90198|0.90198	3.095|3.095	0.54753|0.54753	D|D	0.999989|0.999989	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.75020|.	0.936;0.985|.	T|.	0.76307|.	-0.3007|.	10|.	0.87932|.	D|.	0|.	-13.3432|-13.3432	8.9172|8.9172	0.35590|0.35590	0.0:0.8296:0.0:0.1704|0.0:0.8296:0.0:0.1704	.|.	836;836|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	L|X	836|439	ENSP00000336620:F836L;ENSP00000319829:F836L;ENSP00000357874:F836L|.	ENSP00000319829:F836L|.	F|S	+|+	3|2	2|0	ZNF687|ZNF687	149528514|149528514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.363000|0.363000	0.29612|0.29612	1.460000|1.460000	0.35244|0.35244	1.391000|1.391000	0.46566|0.46566	0.561000|0.561000	0.74099|0.74099	TTC|TCA	ZNF687	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143373		0.582	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding	OTTHUMT00000034400.3	68	0.00	0	C	NM_002651		151261890	151261890	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426871	ensembl	human	known	69_37n	nonsense	36	21.74	10	SNP	1.000	A
ZNF678	339500	genome.wustl.edu	37	1	227751396	227751396	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr1:227751396A>T	ENST00000343776.5	+	0	153				RNA5SP77_ENST00000365394.1_RNA|ZNF678_ENST00000608949.1_De_novo_Start_OutOfFrame|ZNF678_ENST00000397097.3_Start_Codon_SNP_p.M1L|ZNF678_ENST00000465266.1_3'UTR	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M1L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CATAGCTAAGATGCCAGGACA	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											55.0	64.0	61.0					1																	227751396		692	1591	2283	-	-	-			0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.-193A>T	1.37:g.227751396A>T			Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M1L	ENST00000343776.5	37	c.1		1	.	.	.	.	.	.	.	.	.	.	A	3.109	-0.183132	0.06340	.	.	ENSG00000181450	ENST00000397097;ENST00000440339	T;T	0.04317	3.65;3.66	0.401	0.401	0.16338	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.20403	N	0.999909	.	.	.	.	.	.	T	0.35201	-0.9798	5	0.87932	D	0	.	.	.	.	.	.	.	.	L	1	ENSP00000440403:M1L;ENSP00000394651:M1L	ENSP00000440403:M1L	M	+	1	0	ZNF678	225818019	0.077000	0.21312	0.010000	0.14722	0.010000	0.07245	0.241000	0.18065	0.369000	0.24510	0.358000	0.22013	ATG	ZNF678	-	NULL	ENSG00000181450		0.617	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	32	0.00	0	A	NM_178549		227751396	227751396	+1	no_errors	ENST00000397097	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	0.011	T
ZNF823	55552	genome.wustl.edu	37	19	11834071	11834071	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0U2-01A-11D-A10G-09	TCGA-AR-A0U2-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f0194733-2347-43c4-a4a3-131642c27798	15bcbeef-a0ab-4b73-878e-34328e6270f4	g.chr19:11834071G>T	ENST00000341191.6	-	4	431	c.278C>A	c.(277-279)cCt>cAt	p.P93H	ZNF823_ENST00000440527.1_3'UTR|CTC-499B15.6_ENST00000586983.1_RNA|ZNF823_ENST00000545749.1_5'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P93H(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATTTACTCGAGGAGTGTTCTT	0.398										HNSCC(68;0.2)																												dbGAP											2	Substitution - Missense(2)	breast(2)											82.0	79.0	80.0					19																	11834071		2188	4293	6481	-	-	-	SO:0001583	missense	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.278C>A	19.37:g.11834071G>T	ENSP00000340683:p.Pro93His		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P93H	ENST00000341191.6	37	c.278	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	g	9.048	0.991457	0.18966	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.07114	4.13;3.22	0.891	-0.278	0.12894	Krueppel-associated box (1);	.	.	.	.	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	0.999997	D	0.63880	0.993	P	0.52856	0.711	T	0.26258	-1.0108	9	0.39692	T	0.17	.	1.7405	0.02951	0.2495:0.0:0.4251:0.3254	.	93	P16415	ZN823_HUMAN	H	93;49	ENSP00000340683:P93H;ENSP00000410654:P49H	ENSP00000340683:P93H	P	-	2	0	ZNF823	11695071	0.030000	0.19436	0.012000	0.15200	0.260000	0.26232	1.565000	0.36386	-0.051000	0.13334	0.298000	0.19748	CCT	ZNF823	-	pfscan_Krueppel-associated_box	ENSG00000197933		0.398	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	148	0.00	0	G	NM_001080493		11834071	11834071	-1	no_errors	ENST00000341191	ensembl	human	known	69_37n	missense	70	30.69	31	SNP	0.041	T
