#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ADAT3	113179	genome.wustl.edu	37	19	1912236	1912236	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr19:1912236G>T	ENST00000602400.1	+	2	370	c.142G>T	c.(142-144)Gcg>Tcg	p.A48S	SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.A64S			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	48					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTACGCCGCGCCCGTCCT	0.736																																						dbGAP											0													12.0	13.0	12.0					19																	1912236		2182	4272	6454	-	-	-	SO:0001583	missense	0			BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.142G>T	19.37:g.1912236G>T	ENSP00000473571:p.Ala48Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.A48S	ENST00000602400.1	37	c.142		19	.	.	.	.	.	.	.	.	.	.	g	18.91	3.723655	0.68959	.	.	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.96	2.84	0.33178	.	0.187965	0.44902	D	0.000411	T	0.63498	0.2516	M	0.72118	2.19	0.37118	D	0.900695	D	0.67145	0.996	P	0.53450	0.726	T	0.69921	-0.5014	9	0.56958	D	0.05	-21.8313	8.6119	0.33808	0.1878:0.0:0.8122:0.0	.	48	Q96EY9	ADAT3_HUMAN	S	48	.	ENSP00000332448:A48S	A	+	1	0	ADAT3	1863236	1.000000	0.71417	0.053000	0.19242	0.578000	0.36192	6.104000	0.71498	1.091000	0.41335	0.643000	0.83706	GCG	ADAT3	-	NULL	ENSG00000213638		0.736	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	ADAT3	HGNC	protein_coding		13	0.00	0	G	NM_138422		1912236	1912236	+1	no_errors	ENST00000329478	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	0.675	T
ALPPL2	251	genome.wustl.edu	37	2	233274416	233274416	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr2:233274416C>T	ENST00000295453.3	+	11	1485	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	478					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ACCTTCATAGCGCACGTCATG	0.751																																						dbGAP											0													15.0	19.0	17.0					2																	233274416		2185	4282	6467	-	-	-	SO:0001583	missense	0			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1433C>T	2.37:g.233274416C>T	ENSP00000295453:p.Ala478Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.A478V	ENST00000295453.3	37	c.1433	CCDS2491.1	2	.	.	.	.	.	.	.	.	.	.	c	15.07	2.725377	0.48833	.	.	ENSG00000163286	ENST00000295453	D	0.96334	-3.98	2.54	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.94886	3.595	0.43924	D	0.996575	D	0.65815	0.995	P	0.50896	0.653	D	0.97845	1.0271	10	0.72032	D	0.01	.	12.4169	0.55498	0.0:1.0:0.0:0.0	.	478	P10696	PPBN_HUMAN	V	478	ENSP00000295453:A478V	ENSP00000295453:A478V	A	+	2	0	ALPPL2	232982660	0.996000	0.38824	0.938000	0.37757	0.023000	0.10783	7.068000	0.76748	1.410000	0.46936	0.205000	0.17691	GCG	ALPPL2	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163286		0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPPL2	HGNC	protein_coding	OTTHUMT00000257034.2	39	0.00	0	C	NM_031313		233274416	233274416	+1	no_errors	ENST00000295453	ensembl	human	known	69_37n	missense	15	51.61	16	SNP	1.000	T
AMPD1	270	genome.wustl.edu	37	1	115221144	115221144	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr1:115221144T>C	ENST00000520113.2	-	8	1016	c.1001A>G	c.(1000-1002)gAc>gGc	p.D334G	AMPD1_ENST00000353928.6_Missense_Mutation_p.D301G|AMPD1_ENST00000369538.3_Missense_Mutation_p.D330G			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	334					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GATATGGGTGTCCACCTGTAT	0.418																																						dbGAP											0													70.0	69.0	70.0					1																	115221144		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1001A>G	1.37:g.115221144T>C	ENSP00000430075:p.Asp334Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.D334G	ENST00000520113.2	37	c.1001	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348679	0.82132	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.84944	-1.92;-1.92;-1.92	5.09	5.09	0.68999	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	H	0.94385	3.53	0.80722	D	1	P;D	0.55800	0.749;0.973	P;D	0.71870	0.803;0.975	D	0.95211	0.8325	10	0.87932	D	0	-25.4122	15.1639	0.72807	0.0:0.0:0.0:1.0	.	330;301	Q5TF02;P23109	.;AMPD1_HUMAN	G	334;330;301	ENSP00000430075:D334G;ENSP00000358551:D330G;ENSP00000316520:D301G	ENSP00000316520:D301G	D	-	2	0	AMPD1	115022667	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.997000	0.88414	2.050000	0.60909	0.454000	0.30748	GAC	AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	48	0.00	0	T			115221144	115221144	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	missense	43	12.00	6	SNP	1.000	C
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	32	0.00	0	AG	NM_080871		150884267	150884268	-1	no_errors	ENST00000422024	ensembl	human	known	69_37n	frame_shift_del	41	14.58	7	DEL	0.003:0.000	-
CACNA1H	8912	genome.wustl.edu	37	16	1252141	1252141	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr16:1252141G>A	ENST00000348261.5	+	9	1939	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R564H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R564H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	564					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCCCCAGGCCGCGGACCCCCC	0.731																																						dbGAP											0													2.0	2.0	2.0					16																	1252141		1321	3230	4551	-	-	-	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1691G>A	16.37:g.1252141G>A	ENSP00000334198:p.Arg564His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R564H	ENST00000348261.5	37	c.1691	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	7.487	0.649773	0.14516	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96396	-4.0;-3.95	3.88	-7.76	0.01232	.	107.227000	0.00166	N	0.000000	D	0.87549	0.6205	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	D	0.84234	0.0468	10	0.10636	T	0.68	.	7.1109	0.25390	0.4585:0.2143:0.3272:0.0	.	564;564	O95180-2;O95180	.;CAC1H_HUMAN	H	564	ENSP00000334198:R564H;ENSP00000351401:R564H	ENSP00000334198:R564H	R	+	2	0	CACNA1H	1192142	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.447000	0.06828	-1.483000	0.01858	-0.258000	0.10820	CGC	CACNA1H	-	NULL	ENSG00000196557		0.731	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	12	0.00	0	G	NM_001005407		1252141	1252141	+1	no_errors	ENST00000348261	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.000	A
CIZ1	25792	genome.wustl.edu	37	9	130940822	130940822	+	Intron	SNP	C	C	T	rs3892074	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr9:130940822C>T	ENST00000393608.1	-	9	1701				CIZ1_ENST00000538431.1_Intron|CIZ1_ENST00000372938.5_Intron|CIZ1_ENST00000357558.5_Intron|CIZ1_ENST00000325721.8_Intron|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000277465.4_Intron|CIZ1_ENST00000476727.2_Intron	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1						maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAAGAGCTGCCTTCTCCGTCC	0.617													C|||	3442	0.6873	0.4228	0.7579	5008	,	,		21525	0.9435		0.6481	False		,,,				2504	0.771					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1499-53G>A	9.37:g.130940822C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	RNA	SNP	-	NULL	ENST00000393608.1	37	NULL	CCDS6894.1	9																																																																																			CIZ1	-	-	ENSG00000148337		0.617	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	34	0.00	0	C	NM_012127		130940822	130940822	-1	no_errors	ENST00000475471	ensembl	human	known	69_37n	rna	25	13.79	4	SNP	0.021	T
ELN	2006	genome.wustl.edu	37	7	73457489	73457489	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr7:73457489A>G	ENST00000252034.7	+	8	817	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	ELN_ENST00000380584.4_Missense_Mutation_p.K140E|ELN_ENST00000429192.1_Missense_Mutation_p.K145E|ELN_ENST00000414324.1_Missense_Mutation_p.K135E|ELN_ENST00000445912.1_Missense_Mutation_p.K140E|ELN_ENST00000358929.4_Missense_Mutation_p.K140E|ELN_ENST00000380575.4_Missense_Mutation_p.K130E|ELN_ENST00000380562.4_Missense_Mutation_p.K140E|ELN_ENST00000380576.5_Missense_Mutation_p.K140E|ELN_ENST00000320492.7_Missense_Mutation_p.K128E|ELN_ENST00000380553.4_Intron|ELN_ENST00000458204.1_Missense_Mutation_p.K130E|ELN_ENST00000357036.5_Missense_Mutation_p.K145E|ELN_ENST00000320399.6_Missense_Mutation_p.K140E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	140					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GAAGCCTGGGAAAGTGCCGGG	0.647			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															dbGAP		Dom	yes		7	7q11.23	2006	elastin	yes	L	0													68.0	54.0	59.0					7																	73457489		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.418A>G	7.37:g.73457489A>G	ENSP00000252034:p.Lys140Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.K140E	ENST00000252034.7	37	c.418	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	a	15.00	2.702345	0.48307	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80653	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-1.4;-0.99;-1.4;-0.99;-0.99	4.95	4.95	0.65309	.	.	.	.	.	D	0.85225	0.5648	M	0.65975	2.015	0.32781	N	0.50251	D;D;D;D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76071	0.987;0.987;0.987;0.987;0.987;0.987;0.987;0.987;0.987;0.987;0.987;0.987;0.987	T	0.82557	-0.0398	9	0.07175	T	0.84	.	11.0451	0.47855	1.0:0.0:0.0:0.0	.	140;109;128;135;130;140;130;145;145;140;130;140;140	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	140;140;140;118;128;128;135;140;130;140;130;145;140;145;109;140;140;140	ENSP00000389857:K140E;ENSP00000252034:K140E;ENSP00000351807:K140E;ENSP00000394549:K118E;ENSP00000315607:K128E;ENSP00000406949:K128E;ENSP00000392575:K135E;ENSP00000369936:K140E;ENSP00000369949:K130E;ENSP00000369958:K140E;ENSP00000403162:K130E;ENSP00000349540:K145E;ENSP00000411092:K140E;ENSP00000391129:K145E;ENSP00000403961:K140E;ENSP00000369950:K140E;ENSP00000313565:K140E	ENSP00000252034:K140E	K	+	1	0	ELN	73095425	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	4.713000	0.61895	1.874000	0.54306	0.248000	0.18094	AAA	ELN	-	NULL	ENSG00000049540		0.647	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	38	0.00	0	A	NM_000501		73457489	73457489	+1	no_errors	ENST00000358929	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	1.000	G
F8	2157	genome.wustl.edu	37	X	154156942	154156942	+	Missense_Mutation	SNP	C	C	T	rs111033614		TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chrX:154156942C>T	ENST00000360256.4	-	14	5323	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1708		Cleavage; by thrombin.	R -> C (in HEMA; East Hartford; severe/ moderate/mild; abolishes thrombin cleavage at the light chain). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:1851341, ECO:0000269|PubMed:2104766, ECO:0000269|PubMed:2105906, ECO:0000269|PubMed:2499363, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:9326186}.|R -> H (in HEMA; mild; abolishes thrombin cleavage at the light chain; dbSNP:rs28937286). {ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:1851341}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGAAAGCTGCGGGGGCTCTG	0.403																																						dbGAP											0			GRCh37	CM062654|CM910137	F8	M	rs111033614						78.0	70.0	73.0					X																	154156942		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5123G>A	X.37:g.154156942C>T	ENSP00000353393:p.Arg1708His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1708H	ENST00000360256.4	37	c.5123	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121290	0.77436	.	.	ENSG00000185010	ENST00000360256	D	0.99382	-5.8	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98844	1.0756	10	0.56958	D	0.05	-12.0141	12.724	0.57159	0.0:1.0:0.0:0.0	rs28937286	1708	P00451	FA8_HUMAN	H	1708	ENSP00000353393:R1708H	ENSP00000353393:R1708H	R	-	2	0	F8	153810136	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.996000	0.57009	2.056000	0.61249	0.544000	0.68410	CGC	F8	-	NULL	ENSG00000185010		0.403	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	50	0.00	0	C			154156942	154156942	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	71	11.25	9	SNP	1.000	T
FABP5P3	220832	genome.wustl.edu	37	7	152139854	152139854	+	RNA	SNP	A	A	C	rs1972551	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr7:152139854A>C	ENST00000477993.1	+	0	609					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										TTTGAAGAAAACACAGCTGAT	0.418													C|||	1853	0.370008	0.5666	0.3862	5008	,	,		19163	0.2222		0.3588	False		,,,				2504	0.2566					dbGAP											0																																										-	-	-			0					7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152139854A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000477993.1	37	NULL		7																																																																																			FABP5P3	-	-	ENSG00000241735		0.418	FABP5P3-001	KNOWN	basic	processed_transcript	FABP5P3	HGNC	pseudogene	OTTHUMT00000348208.1	35	0.00	0	A	NR_002935		152139854	152139854	+1	no_errors	ENST00000477993	ensembl	human	known	69_37n	rna	48	14.29	8	SNP	0.998	C
FARP1	10160	genome.wustl.edu	37	13	99088137	99088137	+	Intron	SNP	G	G	A			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr13:99088137G>A	ENST00000319562.6	+	19	2539				FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1-AS1_ENST00000432229.1_RNA	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CATTGTGTTCGGAGGAGATAA	0.433																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2274+177G>A	13.37:g.99088137G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	superfamily_DH-domain	p.R120Q	ENST00000319562.6	37	c.359	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461982	0.04508	.	.	ENSG00000152767	ENST00000423063	.	.	.	2.86	-3.93	0.04143	.	.	.	.	.	T	0.21347	0.0514	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28170	-1.0052	4	.	.	.	.	5.1532	0.15021	0.5821:0.1639:0.254:0.0	.	.	.	.	Q	120	.	.	R	+	2	0	FARP1	97886138	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.149000	0.10204	-1.154000	0.02825	-1.443000	0.01068	CGG	FARP1	-	NULL	ENSG00000152767		0.433	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	115	0.00	0	G	NM_005766		99088137	99088137	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000423063	ensembl	human	known	69_37n	missense	184	14.81	32	SNP	0.000	A
FASN	2194	genome.wustl.edu	37	17	80047015	80047015	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr17:80047015A>T	ENST00000306749.2	-	14	2352	c.2134T>A	c.(2134-2136)Tgg>Agg	p.W712R		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	712	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTGCTGAGCCAGCGGGCTGAA	0.677																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													48.0	44.0	45.0					17																	80047015		2163	4260	6423	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2134T>A	17.37:g.80047015A>T	ENSP00000304592:p.Trp712Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.W712R	ENST00000306749.2	37	c.2134	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929720	0.73327	.	.	ENSG00000169710	ENST00000306749	T	0.44083	0.93	4.68	3.6	0.41247	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72737	-0.4203	10	0.87932	D	0	-21.8905	9.5764	0.39461	0.9159:0.0:0.0841:0.0	.	712	P49327	FAS_HUMAN	R	712	ENSP00000304592:W712R	ENSP00000304592:W712R	W	-	1	0	FASN	77640304	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	6.616000	0.74205	1.745000	0.51790	0.379000	0.24179	TGG	FASN	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase	ENSG00000169710		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	139	0.00	0	A	NM_004104		80047015	80047015	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	52	62.04	85	SNP	1.000	T
FLJ37453	729614	genome.wustl.edu	37	1	16161867	16161867	+	RNA	SNP	A	A	G	rs4661662	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr1:16161867A>G	ENST00000317122.1	-	0	1574				RP11-169K16.9_ENST00000535249.1_RNA	NR_024279.1																						AGCCCGATAGAAGAGAAAACC	0.577													g|||	4648	0.928115	0.7867	0.9582	5008	,	,		14413	0.999		0.9692	False		,,,				2504	0.9826					dbGAP											0																																										-	-	-			0																															1.37:g.16161867A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000317122.1	37	NULL		1																																																																																			RP11-169K16.9	-	-	ENSG00000179743		0.577	RP11-169K16.9-001	KNOWN	basic	antisense	FLJ37453	Clone_based_vega_gene	antisense	OTTHUMT00000025992.1	71	0.00	0	A			16161867	16161867	-1	no_errors	ENST00000317122	ensembl	human	known	69_37n	rna	50	12.28	7	SNP	0.000	G
GRID2	2895	genome.wustl.edu	37	4	94138242	94138242	+	Intron	SNP	A	A	T	rs6848720	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr4:94138242A>T	ENST00000282020.4	+	6	1221				GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTTCTTTTTGATCTCATTATA	0.299													A|||	273	0.0545128	0.1914	0.0115	5008	,	,		14708	0.0069		0.003	False		,,,				2504	0.002					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.963+180A>T	4.37:g.94138242A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	RNA	SNP	-	NULL	ENST00000282020.4	37	NULL	CCDS3637.1	4																																																																																			GRID2	-	-	ENSG00000152208		0.299	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	8	0.00	0	A			94138242	94138242	+1	no_errors	ENST00000505687	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.036	T
MROH2A	339766	genome.wustl.edu	37	2	234716426	234716426	+	Silent	SNP	G	G	A	rs11563241	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr2:234716426G>A	ENST00000389758.3	+	21	2386	c.2220G>A	c.(2218-2220)acG>acA	p.T740T				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	770																	AGGTAAAAACGGTGCTGAATG	0.602													G|||	1629	0.32528	0.5189	0.3256	5008	,	,		20160	0.3611		0.2048	False		,,,				2504	0.1503					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.2220G>A	2.37:g.234716426G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_ARM-type_fold	p.T740	ENST00000389758.3	37	c.2220		2																																																																																			HEATR7B1	-	superfamily_ARM-type_fold	ENSG00000185038		0.602	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	88	0.00	0	G	XM_291007		234716426	234716426	+1	no_errors	ENST00000389758	ensembl	human	novel	69_37n	silent	62	10.14	7	SNP	0.818	A
ITPR1	3708	genome.wustl.edu	37	3	4821278	4821278	+	Silent	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr3:4821278C>T	ENST00000443694.2	+	46	6291	c.6291C>T	c.(6289-6291)caC>caT	p.H2097H	ITPR1_ENST00000456211.2_Silent_p.H2049H|ITPR1_ENST00000423119.2_Silent_p.H2064H|ITPR1_ENST00000354582.6_Silent_p.H2097H|ITPR1_ENST00000302640.8_Silent_p.H2097H|ITPR1_ENST00000357086.4_Silent_p.H2064H|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2112					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAAGCAGGCACGACAGTGAAA	0.537																																						dbGAP											0													121.0	122.0	121.0					3																	4821278		1972	4150	6122	-	-	-	SO:0001819	synonymous_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6291C>T	3.37:g.4821278C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.H2097	ENST00000443694.2	37	c.6291	CCDS54551.1	3																																																																																			ITPR1	-	NULL	ENSG00000150995		0.537	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	59	0.00	0	C	NM_002222		4821278	4821278	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	silent	64	14.47	11	SNP	0.986	T
KAT2B	8850	genome.wustl.edu	37	3	20167543	20167543	+	Silent	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr3:20167543C>T	ENST00000263754.4	+	10	2015	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	520	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GCCTACAGAACGTTTTCTCCC	0.478																																						dbGAP											0													68.0	66.0	67.0					3																	20167543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1560C>T	3.37:g.20167543C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSK1	Silent	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.N520	ENST00000263754.4	37	c.1560	CCDS2634.1	3																																																																																			KAT2B	-	pirsf_Hist_acetylase_PCAF,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000114166		0.478	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	81	0.00	0	C	NM_003884		20167543	20167543	+1	no_errors	ENST00000263754	ensembl	human	known	69_37n	silent	78	14.29	13	SNP	0.918	T
KLC3	147700	genome.wustl.edu	37	19	45848849	45848849	+	Missense_Mutation	SNP	G	G	A	rs541951781	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr19:45848849G>A	ENST00000391946.2	+	2	152	c.50G>A	c.(49-51)cGc>cAc	p.R17H	KLC3_ENST00000470402.1_Missense_Mutation_p.R31H|KLC3_ENST00000585434.1_Missense_Mutation_p.R17H	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	17					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCCAGAGCGCCTGAGCCCT	0.687													G|||	3	0.000599042	0.0	0.0	5008	,	,		13727	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													5.0	7.0	6.0					19																	45848849		1930	4042	5972	-	-	-	SO:0001583	missense	0			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.50G>A	19.37:g.45848849G>A	ENSP00000375810:p.Arg17His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R31H	ENST00000391946.2	37	c.92	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905465	0.52333	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.83673	-1.73;-1.75	3.3	3.3	0.37823	.	0.094886	0.40908	U	0.000993	T	0.76821	0.4041	N	0.24115	0.695	0.27090	N	0.962874	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.52672	0.706;0.706;0.512	T	0.69472	-0.5136	10	0.87932	D	0	0.0012	6.574	0.22555	0.1353:0.0:0.8647:0.0	.	17;31;17	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	H	17;31	ENSP00000375810:R17H;ENSP00000436019:R31H	ENSP00000375810:R17H	R	+	2	0	KLC3	50540689	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.307000	0.33516	1.859000	0.53934	0.313000	0.20887	CGC	KLC3	-	NULL	ENSG00000104892		0.687	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	23	0.00	0	G	NM_145275		45848849	45848849	+1	no_errors	ENST00000470402	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	0.999	A
LMX1B	4010	genome.wustl.edu	37	9	129458653	129458653	+	Missense_Mutation	SNP	G	G	C	rs375881049		TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr9:129458653G>C	ENST00000373474.4	+	8	1139	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L	LMX1B_ENST00000526117.1_Missense_Mutation_p.V371L|LMX1B_ENST00000425646.2_Missense_Mutation_p.V348L|LMX1B_ENST00000355497.5_Missense_Mutation_p.V382L|LMX1B_ENST00000561065.1_Missense_Mutation_p.V359L			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	378					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTCCTCAGACGTGGGCTCCCT	0.637									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	dbGAP											0													109.0	111.0	110.0					9																	129458653		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1132G>C	9.37:g.129458653G>C	ENSP00000362573:p.Val378Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.V382L	ENST00000373474.4	37	c.1144	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	G	8.863	0.947293	0.18356	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.19	5.19	0.71726	.	0.063724	0.64402	D	0.000007	T	0.61702	0.2368	N	0.11427	0.14	0.51767	D	0.999938	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.12156	0.005;0.002;0.007	T	0.57219	-0.7849	10	0.15952	T	0.53	.	17.6964	0.88282	0.0:0.0:1.0:0.0	.	359;355;371	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	L	371;378;382;348	ENSP00000436930:V371L;ENSP00000362573:V378L;ENSP00000347684:V382L;ENSP00000390923:V348L	ENSP00000347684:V382L	V	+	1	0	LMX1B	128498474	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.609000	0.82925	2.420000	0.82092	0.561000	0.74099	GTG	LMX1B	-	NULL	ENSG00000136944		0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	39	0.00	0	G			129458653	129458653	+1	no_errors	ENST00000355497	ensembl	human	known	69_37n	missense	21	56.25	27	SNP	1.000	C
LRRC32	2615	genome.wustl.edu	37	11	76377014	76377014	+	Intron	SNP	G	G	A	rs566346426	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr11:76377014G>A	ENST00000407242.2	-	2	239				LRRC32_ENST00000464145.1_5'UTR|LRRC32_ENST00000404995.1_Intron|LRRC32_ENST00000260061.5_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32						negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTGTAAGGCGGAGAGGAAAG	0.617													G|||	3	0.000599042	0.0	0.0	5008	,	,		18118	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													114.0	103.0	106.0					11																	76377014		2200	4292	6492	-	-	-	SO:0001627	intron_variant	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.4-12C>T	11.37:g.76377014G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V06	RNA	SNP	-	NULL	ENST00000407242.2	37	NULL	CCDS8245.1	11																																																																																			LRRC32	-	-	ENSG00000137507		0.617	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	50	0.00	0	G	NM_005512		76377014	76377014	-1	no_errors	ENST00000464145	ensembl	human	putative	69_37n	rna	22	43.59	17	SNP	0.000	A
NAA11	84779	genome.wustl.edu	37	4	80246828	80246828	+	Silent	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr4:80246828C>T	ENST00000286794.4	-	1	376	c.204G>A	c.(202-204)ccG>ccA	p.P68P	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	68	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.P68P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TATGGCCATGCGGGACATCAT	0.582																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											111.0	111.0	111.0					4																	80246828		2177	4289	6466	-	-	-	SO:0001819	synonymous_variant	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.204G>A	4.37:g.80246828C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.P68	ENST00000286794.4	37	c.204	CCDS47084.1	4																																																																																			NAA11	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000156269		0.582	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	34	0.00	0	C			80246828	80246828	-1	no_errors	ENST00000286794	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.615	T
NDUFS6	4726	genome.wustl.edu	37	5	1814783	1814783	+	Intron	SNP	T	T	C	rs4147773	byFrequency	TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr5:1814783T>C	ENST00000274137.5	+	3	327				NDUFS6_ENST00000469176.1_Nonstop_Mutation_p.*173R	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)						cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CTTTCAACTGTGAAGTGGTGG	0.587													t|||	3070	0.613019	0.3555	0.8545	5008	,	,		18250	0.4395		0.8777	False		,,,				2504	0.6963					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.309+208T>C	5.37:g.1814783T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonstop_Mutation	SNP	pfam_Znf_CHCC	p.*173R	ENST00000274137.5	37	c.517	CCDS3866.1	5	1406	0.6437728937728938	175	0.3556910569105691	313	0.8646408839779005	249	0.4353146853146853	669	0.8825857519788918	t	0.531	-0.857923	0.02610	.	.	ENSG00000145494	ENST00000469176	.	.	.	1.38	-1.28	0.09318	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3056	0.04173	0.0:0.2122:0.3087:0.4791	rs4147773;rs4147773	.	.	.	R	173	.	.	X	+	1	0	NDUFS6	1867783	0.010000	0.17322	0.001000	0.08648	0.006000	0.05464	0.116000	0.15561	-0.382000	0.07870	-1.163000	0.01768	TGA	NDUFS6	-	NULL	ENSG00000145494		0.587	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS6	HGNC	protein_coding	OTTHUMT00000206744.2	18	0.00	0	T	NM_004553		1814783	1814783	+1	no_errors	ENST00000469176	ensembl	human	putative	69_37n	nonstop	14	22.22	4	SNP	0.001	C
NRXN1	9378	genome.wustl.edu	37	2	51255149	51255149	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr2:51255149C>T	ENST00000406316.2	-	2	1739	c.263G>A	c.(262-264)cGc>cAc	p.R88H	NRXN1_ENST00000404971.1_Missense_Mutation_p.R88H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R88H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R88H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R88H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R88H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R88H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	88	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCTGCAGGCGGCCGCCGCG	0.677																																						dbGAP											0													13.0	17.0	16.0					2																	51255149		1981	4137	6118	-	-	-	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.263G>A	2.37:g.51255149C>T	ENSP00000384311:p.Arg88His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R88H	ENST00000406316.2	37	c.263	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186628	0.57909	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.469460	0.05932	U	0.635372	T	0.77315	0.4112	L	0.28458	0.855	0.32207	N	0.577032	B;B;D	0.60160	0.091;0.083;0.987	B;B;P	0.48063	0.067;0.021;0.565	T	0.73081	-0.4095	10	0.30854	T	0.27	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	88;88;88	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	H	88	ENSP00000385142:R88H;ENSP00000384311:R88H;ENSP00000434015:R88H;ENSP00000385017:R88H;ENSP00000385434:R88H;ENSP00000385681:R88H;ENSP00000385310:R88H	ENSP00000385017:R88H	R	-	2	0	NRXN1	51108653	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.852000	0.55934	2.293000	0.77203	0.563000	0.77884	CGC	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	13	0.00	0	C			51255149	51255149	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	T
PCDH20	64881	genome.wustl.edu	37	13	61987039	61987039	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr13:61987039A>G	ENST00000409186.1	-	5	3298	c.1193T>C	c.(1192-1194)aTc>aCc	p.I398T	PCDH20_ENST00000409204.4_Missense_Mutation_p.I398T			Q8N6Y1	PCD20_HUMAN	protocadherin 20	398	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATTAGCAAGGATGGTGAGCTT	0.423																																						dbGAP											0													103.0	101.0	102.0					13																	61987039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1193T>C	13.37:g.61987039A>G	ENSP00000386653:p.Ile398Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I398T	ENST00000409186.1	37	c.1193	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342778	0.41498	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.63580	-0.05;-0.05	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000004	T	0.68622	0.3021	M	0.87547	2.89	0.58432	D	0.999999	P	0.36354	0.549	B	0.34536	0.185	T	0.74662	-0.3590	10	0.87932	D	0	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	398	A8K1K9	.	T	398;398;144	ENSP00000387250:I398T;ENSP00000386653:I398T	ENSP00000351500:I144T	I	-	2	0	PCDH20	60885040	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.281000	0.95811	2.266000	0.75297	0.528000	0.53228	ATC	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.423	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	37	0.00	0	A	NM_022843		61987039	61987039	-1	no_errors	ENST00000409186	ensembl	human	known	69_37n	missense	15	54.55	18	SNP	1.000	G
PROS1	5627	genome.wustl.edu	37	3	93619729	93619729	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr3:93619729C>T	ENST00000394236.3	-	7	962	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	PROS1_ENST00000407433.1_Missense_Mutation_p.V85M	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	216	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCTTGCACACAGCTGTGCCA	0.393																																						dbGAP											0													78.0	72.0	74.0					3																	93619729		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.646G>A	3.37:g.93619729C>T	ENSP00000377783:p.Val216Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.V216M	ENST00000394236.3	37	c.646	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017184	0.54576	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.92595	-3.07;-3.07	4.19	3.23	0.37069	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.764621	0.12070	N	0.502331	D	0.90397	0.6994	L	0.56396	1.775	0.33278	D	0.561854	P	0.44946	0.846	P	0.47402	0.546	D	0.89232	0.3578	10	0.33940	T	0.23	.	6.0658	0.19862	0.1369:0.6459:0.1338:0.0833	.	216	P07225	PROS_HUMAN	M	216;85	ENSP00000377783:V216M;ENSP00000385794:V85M	ENSP00000377783:V216M	V	-	1	0	PROS1	95102419	0.340000	0.24792	1.000000	0.80357	0.953000	0.61014	0.202000	0.17295	2.341000	0.79615	0.591000	0.81541	GTG	PROS1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000184500		0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	76	0.00	0	C	NM_000313		93619729	93619729	-1	no_errors	ENST00000394236	ensembl	human	known	69_37n	missense	38	50.65	39	SNP	0.998	T
PTK2B	2185	genome.wustl.edu	37	8	27287611	27287611	+	Splice_Site	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr8:27287611C>T	ENST00000397501.1	+	11	1361	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	PTK2B_ENST00000544172.1_Splice_Site_p.R185W|PTK2B_ENST00000338238.4_Splice_Site_p.R185W|PTK2B_ENST00000346049.5_Splice_Site_p.R185W|PTK2B_ENST00000517339.1_Splice_Site_p.R185W|PTK2B_ENST00000397497.4_5'Flank|PTK2B_ENST00000420218.2_Splice_Site_p.R185W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	185	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TTTCTCCAGGCGGTTCTTCAA	0.562																																						dbGAP											0													253.0	266.0	262.0					8																	27287611		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.552-1C>T	8.37:g.27287611C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R185W	ENST00000397501.1	37	c.553	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062465	0.76187	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000412793;ENST00000517339	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.8	0.174	0.15040	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88435	0.3038	10	0.87932	D	0	.	14.9296	0.70906	0.6892:0.3108:0.0:0.0	.	185;185	Q14289-2;Q14289	.;FAK2_HUMAN	W	185;190;185;185;185;185;185;185	ENSP00000380638:R185W;ENSP00000342242:R185W;ENSP00000440926:R185W;ENSP00000332816:R185W;ENSP00000391995:R185W;ENSP00000416174:R185W;ENSP00000427931:R185W	ENSP00000342242:R185W	R	+	1	2	PTK2B	27343528	1.000000	0.71417	0.996000	0.52242	0.803000	0.45373	2.090000	0.41682	0.322000	0.23283	0.650000	0.86243	CGG	PTK2B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000120899		0.562	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	127	0.00	0	C	NM_004103	Missense_Mutation	27287611	27287611	+1	no_errors	ENST00000346049	ensembl	human	known	69_37n	missense	84	19.23	20	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	48947596	48947597	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr13:48947596_48947597insAA	ENST00000267163.4	+	12	1321_1322	c.1183_1184insAA	c.(1183-1185)caafs	p.Q395fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.Q395*(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCAAGTGATCAACCTTCAGAA	0.292		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(3)	bone(11)|breast(5)|central_nervous_system(3)|eye(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1184_1185dupAA	13.37:g.48947597_48947598dupAA	ENSP00000267163:p.Gln395fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.P396fs	ENST00000267163.4	37	c.1183_1184	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.292	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	27	0.00	0	-			48947596	48947597	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	frame_shift_ins	32	34.69	17	INS	1.000:1.000	AA
RB1	5925	genome.wustl.edu	37	13	48947599	48947599	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr13:48947599C>T	ENST00000267163.4	+	12	1324	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	396	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGTGATCAACCTTCAGAAAA	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											103.0	111.0	108.0					13																	48947599		2203	4289	6492	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1186C>T	13.37:g.48947599C>T	ENSP00000267163:p.Pro396Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.P396S	ENST00000267163.4	37	c.1186	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675525	0.88445	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.95377	-3.69	5.54	5.54	0.83059	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98842	1.0755	10	0.87932	D	0	.	19.4822	0.95014	0.0:1.0:0.0:0.0	.	396	P06400	RB_HUMAN	S	375;396	ENSP00000267163:P396S	ENSP00000267163:P396S	P	+	1	0	RB1	47845600	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.779000	0.68948	2.612000	0.88384	0.563000	0.77884	CCT	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	27	0.00	0	C			48947599	48947599	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	missense	30	38.00	19	SNP	1.000	T
RPS25	6230	genome.wustl.edu	37	11	118888095	118888095	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr11:118888095G>C	ENST00000527673.1	-	3	665	c.260C>G	c.(259-261)gCc>gGc	p.A87G	TRAPPC4_ENST00000359005.4_5'Flank|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|MIR3656_ENST00000577421.1_RNA	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CTCCTGAAGGGCTGCCCTGGC	0.453																																						dbGAP											0													37.0	39.0	38.0					11																	118888095		2200	4294	6494	-	-	-	SO:0001583	missense	0			M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.260C>G	11.37:g.118888095G>C	ENSP00000435096:p.Ala87Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4M7|P25111	Missense_Mutation	SNP	pfam_Ribosomal_S25	p.A87G	ENST00000527673.1	37	c.260	CCDS8406.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008852	0.75046	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.64630	1.985	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.61879	-0.6972	9	0.38643	T	0.18	-2.8473	20.0281	0.97530	0.0:0.0:1.0:0.0	.	87	P62851	RS25_HUMAN	G	87	.	ENSP00000435096:A87G	A	-	2	0	RPS25	118393305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.744000	0.98853	2.727000	0.93392	0.655000	0.94253	GCC	RPS25	-	pfam_Ribosomal_S25	ENSG00000118181		0.453	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS25	HGNC	protein_coding	OTTHUMT00000389324.1	48	0.00	0	G	NM_001028		118888095	118888095	-1	no_errors	ENST00000527673	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	1.000	C
SPTA1	6708	genome.wustl.edu	37	1	158650380	158650380	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr1:158650380C>T	ENST00000368147.4	-	5	851	c.671G>A	c.(670-672)tGt>tAt	p.C224Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	224					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCTCGGCACACTCATTGGC	0.448																																						dbGAP											0													149.0	148.0	148.0					1																	158650380		1933	4131	6064	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.671G>A	1.37:g.158650380C>T	ENSP00000357129:p.Cys224Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.C224Y	ENST00000368147.4	37	c.671	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431415	0.62844	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	5.25	4.35	0.52113	.	0.000000	0.34802	N	0.003665	T	0.50463	0.1617	M	0.70595	2.14	0.34301	D	0.684397	D	0.64830	0.994	D	0.67725	0.953	T	0.59663	-0.7412	10	0.62326	D	0.03	.	6.6414	0.22911	0.263:0.6521:0.0:0.0849	.	224	P02549	SPTA1_HUMAN	Y	224	ENSP00000357130:C224Y;ENSP00000357129:C224Y	ENSP00000357129:C224Y	C	-	2	0	SPTA1	156917004	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.990000	0.49401	1.443000	0.47586	0.650000	0.86243	TGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	105	0.00	0	C	NM_003126		158650380	158650380	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	104	11.11	13	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-	rs397516437		TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; 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.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	CGCCCATGCAGGAACTGTTAC	0.577		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"""	50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)											138.0	107.0	117.0					17																	7577558		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.723delC	17.37:g.7577558delG	ENSP00000269305:p.Ser241fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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	Frame_Shift_Del	DEL	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.C242fs	ENST00000269305.4	37	c.723	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	112	0.00	0	G	NM_000546		7577558	7577558	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	64	41.07	46	DEL	1.000	-
TUBB3	10381	genome.wustl.edu	37	16	90001580	90001580	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr16:90001580C>T	ENST00000315491.7	+	4	844	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.R169C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R169C|TUBB3_ENST00000556922.1_Missense_Mutation_p.R588C	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	241					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CACCTCCTTGCGCTTCCCGGG	0.657																																						dbGAP											0													65.0	57.0	60.0					16																	90001580		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.721C>T	16.37:g.90001580C>T	ENSP00000320295:p.Arg241Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.R241C	ENST00000315491.7	37	c.721	CCDS10988.1	16	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350324	0.41599	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.67	4.67	0.58626	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000022	D	0.89100	0.6619	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91540	0.5249	9	.	.	.	.	12.6167	0.56580	0.1659:0.8341:0.0:0.0	.	241;241	Q13509;B2RBD5	TBB3_HUMAN;.	C	588;241;169;169;169;241	ENSP00000451560:R588C;ENSP00000302777:R169C;ENSP00000450538:R169C;ENSP00000451617:R169C;ENSP00000320295:R241C	.	R	+	1	0	RP11-566K11.2;TUBB3	88529081	0.990000	0.36364	0.991000	0.47740	0.604000	0.37047	2.869000	0.48444	2.316000	0.78162	0.407000	0.27541	CGC	TUBB3	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000258947		0.657	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Clone_based_vega_gene	protein_coding	OTTHUMT00000272874.1	142	0.00	0	C	NM_006086		90001580	90001580	+1	no_errors	ENST00000315491	ensembl	human	known	69_37n	missense	113	19.29	27	SNP	1.000	T
WHAMMP2	440253	genome.wustl.edu	37	15	28991148	28991148	+	RNA	SNP	G	G	C	rs200178304		TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr15:28991148G>C	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		AAATGGAACAGGATGTGAAGA	0.378																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28991148G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.378	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	67	0.00	0	G	NR_026589		28991148	28991148	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	40	11.11	5	SNP	1.000	C
TSIX	9383	genome.wustl.edu	37	X	73042610	73042610	+	lincRNA	SNP	G	G	A			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chrX:73042610G>A	ENST00000604411.1	+	0	30571				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ATCAATACTCGTATGAACGAA	0.338																																						dbGAP											0													42.0	45.0	44.0					X																	73042610		875	1991	2866	-	-	-			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042610G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.338	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	65	0.00	0	G	NR_003255		73042610	73042610	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	39	50.00	39	SNP	0.000	A
ZNF613	79898	genome.wustl.edu	37	19	52443551	52443551	+	Silent	SNP	C	C	T			TCGA-A2-A3XS-01A-11D-A22X-09	TCGA-A2-A3XS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbed906d-982b-4040-8850-7d7bacf798b7	5ac31689-63f4-49e4-8a06-a822d0ff828a	g.chr19:52443551C>T	ENST00000293471.6	+	4	784	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGTACCGAGACGTGATGTTGG	0.542																																						dbGAP											0													162.0	145.0	151.0					19																	52443551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.105C>T	19.37:g.52443551C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SS9	Silent	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.D35	ENST00000293471.6	37	c.105	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000176024		0.542	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	112	0.00	0	C	NM_024840		52443551	52443551	+1	no_errors	ENST00000293471	ensembl	human	known	69_37n	silent	104	20.00	26	SNP	0.958	T
