#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADRBK1	156	genome.wustl.edu	37	11	67050279	67050279	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr11:67050279C>T	ENST00000308595.5	+	14	1507	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GACCGCATGACGCTGACGATG	0.607																																						dbGAP											0													47.0	42.0	44.0					11																	67050279		2200	4295	6495	-	-	-	SO:0001583	missense	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1217C>T	11.37:g.67050279C>T	ENSP00000312262:p.Thr406Met		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.T406M	ENST00000308595.5	37	c.1217	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024461	0.75390	.	.	ENSG00000173020	ENST00000308595	T	0.66815	-0.23	4.72	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000014	T	0.77110	0.4082	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78537	-0.2166	10	0.59425	D	0.04	-11.4465	18.2462	0.89986	0.0:1.0:0.0:0.0	.	406	P25098	ARBK1_HUMAN	M	406	ENSP00000312262:T406M	ENSP00000312262:T406M	T	+	2	0	ADRBK1	66806855	1.000000	0.71417	0.958000	0.39756	0.545000	0.35147	6.959000	0.76031	2.619000	0.88677	0.561000	0.74099	ACG	ADRBK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000173020		0.607	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	28	0.00	0	C	NM_001619		67050279	67050279	+1	no_errors	ENST00000308595	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61959967	61959967	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr10:61959967G>A	ENST00000280772.2	-	13	1602	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	ANK3_ENST00000373827.2_Missense_Mutation_p.H465Y|ANK3_ENST00000503366.1_Missense_Mutation_p.H454Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	471					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGCCATGTGCAGTGCTGTT	0.463																																						dbGAP											0													73.0	63.0	66.0					10																	61959967		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1411C>T	10.37:g.61959967G>A	ENSP00000280772:p.His471Tyr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.H471Y	ENST00000280772.2	37	c.1411	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620338	0.87460	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.70516	-0.49;2.27;2.27	5.85	5.85	0.93711	Ankyrin repeat-containing domain (3);	0.000000	0.41938	D	0.000800	D	0.87249	0.6130	M	0.87547	2.89	0.80722	D	1	P;D;D;D	0.89917	0.822;1.0;1.0;1.0	B;D;D;D	0.97110	0.234;0.991;1.0;0.998	D	0.88391	0.3008	10	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	454;132;465;471	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	Y	471;465;454;433;132;132;15	ENSP00000280772:H471Y;ENSP00000362933:H465Y;ENSP00000425236:H454Y	ENSP00000280772:H471Y	H	-	1	0	ANK3	61629973	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	9.823000	0.99369	2.753000	0.94483	0.655000	0.94253	CAC	ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	54	0.00	0	G	NM_020987		61959967	61959967	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	50	37.50	30	SNP	1.000	A
BAZ2B	29994	genome.wustl.edu	37	2	160304785	160304785	+	Missense_Mutation	SNP	G	G	A	rs537143287		TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr2:160304785G>A	ENST00000392783.2	-	5	965	c.470C>T	c.(469-471)tCg>tTg	p.S157L	BAZ2B_ENST00000343439.5_Missense_Mutation_p.S155L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S157L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S155L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	157	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACTTTTTCCCGAAGTCCTTGA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17609	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													126.0	120.0	122.0					2																	160304785		1865	4100	5965	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.470C>T	2.37:g.160304785G>A	ENSP00000376534:p.Ser157Leu		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S157L	ENST00000392783.2	37	c.470	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334286	0.81801	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.68	5.68	0.88126	.	0.324812	0.16835	U	0.197599	T	0.27524	0.0676	L	0.40543	1.245	0.35972	D	0.835398	P;P;D;B;B;B	0.63880	0.531;0.733;0.993;0.072;0.072;0.043	B;B;P;B;B;B	0.56343	0.057;0.131;0.796;0.039;0.039;0.017	T	0.05852	-1.0860	10	0.72032	D	0.01	-6.9275	19.7803	0.96413	0.0:0.0:1.0:0.0	.	155;94;157;155;155;157	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	L	155;157;157;155;94	ENSP00000376533:S155L;ENSP00000376534:S157L;ENSP00000348087:S157L;ENSP00000339670:S155L	ENSP00000339670:S155L	S	-	2	0	BAZ2B	160013031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.423000	0.73361	2.686000	0.91538	0.555000	0.69702	TCG	BAZ2B	-	NULL	ENSG00000123636		0.388	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	94	0.00	0	G			160304785	160304785	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	53	24.29	17	SNP	1.000	A
CFAP74	85452	genome.wustl.edu	37	1	1905610	1905610	+	IGR	SNP	C	C	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr1:1905610C>A								TMEM52 (54898 upstream) : C1orf222 (13952 downstream)																							GTCGCCCCTCCTGGATCTCGA	0.647																																						dbGAP											0													40.0	45.0	43.0					1																	1905610		2153	4267	6420	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.1905610C>A				Missense_Mutation	SNP	NULL	p.Q176H		37	c.528		1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032654	0.35893	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.46	3.46	0.39613	.	0.526460	0.17339	N	0.177816	T	0.68229	0.2978	M	0.65975	2.015	0.54753	D	0.999987	D;D	0.59767	0.986;0.972	P;P	0.59825	0.864;0.773	T	0.70364	-0.4892	9	0.56958	D	0.05	-12.023	11.1634	0.48528	0.0:1.0:0.0:0.0	.	176;176	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	H	176	.	ENSP00000270720:Q176H	Q	-	3	2	C1orf222	1895470	0.004000	0.15560	0.693000	0.30195	0.163000	0.22366	1.107000	0.31110	1.886000	0.54624	0.467000	0.42956	CAG	C1orf222	-	NULL	ENSG00000142609	0	0.647					C1orf222	HGNC			19	0.00	0	C			1905610	1905610	-1	no_errors	ENST00000270720	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.439	A
C3	718	genome.wustl.edu	37	19	6694484	6694484	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr19:6694484C>G	ENST00000245907.6	-	24	3204	c.3112G>C	c.(3112-3114)Ggc>Cgc	p.G1038R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1038					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTCTCTAGGCCGAACTTCTCC	0.632																																						dbGAP											0													112.0	87.0	96.0					19																	6694484		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3112G>C	19.37:g.6694484C>G	ENSP00000245907:p.Gly1038Arg		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G1038R	ENST00000245907.6	37	c.3112	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732179	0.48939	.	.	ENSG00000125730	ENST00000245907	T	0.39406	1.08	5.76	2.37	0.29283	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.270973	0.41938	D	0.000794	T	0.66197	0.2765	M	0.88181	2.935	0.39506	D	0.968277	D	0.89917	1.0	D	0.85130	0.997	T	0.68796	-0.5314	10	0.46703	T	0.11	.	11.2895	0.49241	0.133:0.6106:0.2565:0.0	.	1038	P01024	CO3_HUMAN	R	1038	ENSP00000245907:G1038R	ENSP00000245907:G1038R	G	-	1	0	C3	6645484	1.000000	0.71417	0.017000	0.16124	0.178000	0.23041	3.560000	0.53763	0.322000	0.23283	0.650000	0.86243	GGC	C3	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	49	0.00	0	C	NM_000064		6694484	6694484	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	0.899	G
CFH	3075	genome.wustl.edu	37	1	196711113	196711113	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr1:196711113A>G	ENST00000367429.4	+	19	3305	c.3065A>G	c.(3064-3066)tAc>tGc	p.Y1022C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1022	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCAACATATTACAAAATGGAT	0.393																																						dbGAP											0													120.0	107.0	112.0					1																	196711113		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3065A>G	1.37:g.196711113A>G	ENSP00000356399:p.Tyr1022Cys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y1022C	ENST00000367429.4	37	c.3065	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	15.35	2.807303	0.50421	.	.	ENSG00000000971	ENST00000367429	T	0.72394	-0.65	5.86	4.74	0.60224	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.87152	0.6106	H	0.96239	3.79	0.25210	N	0.989982	D	0.76494	0.999	D	0.70016	0.967	T	0.79773	-0.1662	9	0.87932	D	0	.	7.5493	0.27786	0.667:0.0:0.0:0.333	.	1022	P08603	CFAH_HUMAN	C	1022	ENSP00000356399:Y1022C	ENSP00000356399:Y1022C	Y	+	2	0	CFH	194977736	0.031000	0.19500	0.011000	0.14972	0.009000	0.06853	1.220000	0.32491	1.139000	0.42245	0.528000	0.53228	TAC	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	58	0.00	0	A	NM_000186		196711113	196711113	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	76	25.49	26	SNP	0.056	G
CNDP2	55748	genome.wustl.edu	37	18	72173106	72173106	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr18:72173106C>T	ENST00000324262.4	+	4	543	c.227C>T	c.(226-228)cCg>cTg	p.P76L	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Missense_Mutation_p.P76L	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	76					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.P76Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCGGAGATCCCGCTCCCTCCT	0.542																																						dbGAP											1	Substitution - Missense(1)	lung(1)											53.0	49.0	50.0					18																	72173106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.227C>T	18.37:g.72173106C>T	ENSP00000325548:p.Pro76Leu		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.P76L	ENST00000324262.4	37	c.227	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374456	0.42105	.	.	ENSG00000133313	ENST00000324262	T	0.19669	2.13	5.25	5.25	0.73442	.	0.106316	0.64402	D	0.000003	T	0.32164	0.0820	M	0.89414	3.03	0.80722	D	1	P;P	0.52170	0.951;0.951	B;B	0.36092	0.217;0.217	T	0.54227	-0.8325	10	0.72032	D	0.01	0.1171	18.4648	0.90751	0.0:1.0:0.0:0.0	.	76;76	B4DV28;Q96KP4	.;CNDP2_HUMAN	L	76	ENSP00000325548:P76L	ENSP00000325548:P76L	P	+	2	0	CNDP2	70324086	1.000000	0.71417	0.488000	0.27440	0.521000	0.34408	7.731000	0.84895	2.452000	0.82932	0.455000	0.32223	CCG	CNDP2	-	pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.542	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	33	0.00	0	C	NM_018235		72173106	72173106	+1	no_errors	ENST00000324262	ensembl	human	known	69_37n	missense	21	48.78	20	SNP	0.994	T
FAM115A	9747	genome.wustl.edu	37	7	143556202	143556202	+	Silent	SNP	C	C	T	rs139529707	byFrequency	TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr7:143556202C>T	ENST00000479870.1	-	7	2428	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E	FAM115A_ENST00000392900.3_5'UTR|FAM115A_ENST00000355951.2_Silent_p.E740E	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	740	Peptidase M60.									NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CGTTGATGAGCTCCTGCACTG	0.587																																						dbGAP											0													9.0	9.0	9.0					7																	143556202		1672	3032	4704	-	-	-	SO:0001819	synonymous_variant	0			AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.2220G>A	7.37:g.143556202C>T			A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Silent	SNP	NULL	p.E740	ENST00000479870.1	37	c.2220	CCDS5886.1	7																																																																																			FAM115A	-	NULL	ENSG00000198420		0.587	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM115A	HGNC	protein_coding	OTTHUMT00000349583.1	9	0.00	0	C	NM_014719		143556202	143556202	-1	no_errors	ENST00000479870	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	1.000	T
GRIP2	80852	genome.wustl.edu	37	3	14547146	14547146	+	RNA	SNP	C	C	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr3:14547146C>A	ENST00000273083.3	-	0	2614							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCCAATCATCCTCCTCCTCCT	0.662																																						dbGAP											0													27.0	31.0	30.0					3																	14547146		2100	4197	6297	-	-	-			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14547146C>A			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.662	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	45	0.00	0	C	NM_001080423		14547146	14547146	-1	no_errors	ENST00000273083	ensembl	human	known	69_37n	rna	20	33.33	10	SNP	0.974	A
HIP1	3092	genome.wustl.edu	37	7	75182834	75182834	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr7:75182834G>T	ENST00000336926.6	-	22	2239	c.2213C>A	c.(2212-2214)tCc>tAc	p.S738Y	HIP1_ENST00000434438.2_Missense_Mutation_p.S738Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	738					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCTCCAGGGAGGCCAGGTA	0.532			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													104.0	86.0	92.0					7																	75182834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2213C>A	7.37:g.75182834G>T	ENSP00000336747:p.Ser738Tyr		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S738Y	ENST00000336926.6	37	c.2213	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	g	3.467	-0.108815	0.06924	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15952	2.61;2.38	5.04	2.02	0.26589	.	1.525810	0.02933	N	0.139421	T	0.16171	0.0389	L	0.55481	1.735	0.25711	N	0.985481	B;B	0.22541	0.071;0.001	B;B	0.20577	0.03;0.004	T	0.38373	-0.9664	10	0.02654	T	1	-2.3991	6.853	0.24024	0.1088:0.0:0.7136:0.1776	.	738;738	E7ES17;O00291	.;HIP1_HUMAN	Y	738	ENSP00000336747:S738Y;ENSP00000410300:S738Y	ENSP00000336747:S738Y	S	-	2	0	HIP1	75020770	0.731000	0.28111	0.607000	0.28956	0.379000	0.30106	1.254000	0.32897	0.210000	0.20664	0.650000	0.86243	TCC	HIP1	-	NULL	ENSG00000127946		0.532	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	31	0.00	0	G	NM_005338		75182834	75182834	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	0.875	T
IGKV1D-42	28892	genome.wustl.edu	37	2	90229285	90229285	+	RNA	SNP	A	A	C	rs540320617	byFrequency	TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr2:90229285A>C	ENST00000390278.2	+	0	125									immunoglobulin kappa variable 1D-42 (non-functional)																		TCCTGTCTGCATCTGTAGGAG	0.428																																						dbGAP											0													103.0	106.0	105.0					2																	90229285		1902	4132	6034	-	-	-			0			X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229285A>C				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A35	ENST00000390278.2	37	c.105		2																																																																																			IGKV1D-42	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211633		0.428	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-42	HGNC	IG_V_gene	OTTHUMT00000323148.1	94	0.00	0	A	NG_000833		90229285	90229285	+1	no_stop_codon	ENST00000390278	ensembl	human	known	69_37n	silent	79	24.04	25	SNP	0.116	C
KIR3DL1	3811	genome.wustl.edu	37	19	55341436	55341436	+	Splice_Site	SNP	G	G	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr19:55341436G>A	ENST00000391728.4	+	8	1191		c.e8+1		KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Splice_Site|KIR3DL1_ENST00000538269.1_Splice_Site|KIR3DL1_ENST00000326542.7_Splice_Site|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000541392.1_Splice_Site	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAACAGCGAGGTAGGTGCTCC	0.562																																						dbGAP											0													128.0	124.0	125.0					19																	55341436		1489	2613	4102	-	-	-	SO:0001630	splice_region_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1158+1G>A	19.37:g.55341436G>A			O43473|Q14946|Q16541	Splice_Site	SNP	-	e8+1	ENST00000391728.4	37	c.1158+1	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	.	3.479	-0.106397	0.06924	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	.	.	.	0.569	0.569	0.17340	.	.	.	.	.	.	.	.	.	.	.	0.22266	N	0.999243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	KIR3DL1	60033248	0.040000	0.19996	0.076000	0.20297	0.013000	0.08279	0.150000	0.16263	0.567000	0.29293	0.184000	0.17185	.	KIR3DL1	-	-	ENSG00000167633		0.562	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	99	0.00	0	G	NM_013289	Intron	55341436	55341436	+1	no_errors	ENST00000391728	ensembl	human	known	69_37n	splice_site	32	70.64	77	SNP	0.102	A
KRTAP19-7	337974	genome.wustl.edu	37	21	31933504	31933505	+	Frame_Shift_Del	DEL	CA	CA	-	rs145849762		TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr21:31933504_31933505delCA	ENST00000334849.2	-	1	128_129	c.104_105delTG	c.(103-105)ctgfs	p.L35fs		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	35						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						AGCCATAGCCCAGTCTGCGGAA	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.104_105delTG	21.37:g.31933504_31933505delCA	ENSP00000334696:p.Leu35fs		Q08EP7	Frame_Shift_Del	DEL	pfam_KRTAP	p.L35fs	ENST00000334849.2	37	c.105_104	CCDS13599.1	21																																																																																			KRTAP19-7	-	pfam_KRTAP	ENSG00000244362		0.535	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-7	HGNC	protein_coding	OTTHUMT00000128237.2	126	0.00	0	CA			31933504	31933505	-1	no_errors	ENST00000334849	ensembl	human	known	69_37n	frame_shift_del	81	14.58	14	DEL	0.984:0.952	-
LCK	3932	genome.wustl.edu	37	1	32745462	32745462	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr1:32745462C>A	ENST00000336890.5	+	11	1200	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	LCK_ENST00000373564.3_Missense_Mutation_p.F361L|LCK_ENST00000333070.4_Missense_Mutation_p.F384L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GCATGGCATTCATTGAAGAGC	0.547			T	TRB@	T-ALL																																	dbGAP		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													142.0	133.0	136.0					1																	32745462		2203	4300	6503	-	-	-	SO:0001583	missense	0			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1062C>A	1.37:g.32745462C>A	ENSP00000337825:p.Phe354Leu		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.F384L	ENST00000336890.5	37	c.1152	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463857	0.63513	.	.	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000495610;ENST00000333070;ENST00000436824;ENST00000373564	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.0	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.84813	0.5555	M	0.73598	2.24	0.51012	D	0.999906	B;B;B;B	0.27351	0.176;0.084;0.018;0.07	B;B;B;B	0.28784	0.094;0.094;0.029;0.056	D	0.85025	0.0914	10	0.87932	D	0	.	13.8742	0.63643	0.0:0.9265:0.0:0.0735	.	398;361;384;354	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	L	354;94;303;384;398;361	ENSP00000337825:F354L;ENSP00000435605:F303L;ENSP00000328213:F384L;ENSP00000362665:F361L	ENSP00000328213:F384L	F	+	3	2	LCK	32518049	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.649000	0.24843	1.499000	0.48617	0.555000	0.69702	TTC	LCK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000182866		0.547	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	55	0.00	0	C	NM_005356		32745462	32745462	+1	no_errors	ENST00000333070	ensembl	human	known	69_37n	missense	35	67.59	73	SNP	1.000	A
LOXL3	84695	genome.wustl.edu	37	2	74761688	74761688	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr2:74761688C>T	ENST00000264094.3	-	10	1864	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.R542H|LOXL3_ENST00000393937.2_Missense_Mutation_p.R453H|LOXL3_ENST00000409986.1_Missense_Mutation_p.R453H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	598	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCAGGAGTGGCGCCCAGCCTT	0.637																																						dbGAP											0													37.0	39.0	39.0					2																	74761688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1793G>A	2.37:g.74761688C>T	ENSP00000264094:p.Arg598His		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.R598H	ENST00000264094.3	37	c.1793	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705336	0.89018	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.98	4.98	0.66077	.	0.122998	0.56097	D	0.000025	T	0.61098	0.2320	L	0.58101	1.795	0.80722	D	1	D;P;P;D	0.89917	1.0;0.581;0.864;1.0	D;B;P;D	0.91635	0.999;0.236;0.749;0.998	T	0.60737	-0.7204	10	0.54805	T	0.06	.	16.1857	0.81950	0.0:1.0:0.0:0.0	.	453;542;453;598	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	H	598;453;542;453	ENSP00000264094:R598H;ENSP00000377512:R453H;ENSP00000386696:R542H;ENSP00000386545:R453H	ENSP00000264094:R598H	R	-	2	0	LOXL3	74615196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.648000	0.83479	2.764000	0.94973	0.558000	0.71614	CGC	LOXL3	-	pfam_Lysyl_oxidase,prints_Lysyl_oxidase	ENSG00000115318		0.637	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	49	0.00	0	C	NM_032603		74761688	74761688	-1	no_errors	ENST00000264094	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	1.000	T
LPO	4025	genome.wustl.edu	37	17	56344804	56344804	+	Silent	SNP	G	G	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr17:56344804G>A	ENST00000262290.4	+	12	2104	c.1788G>A	c.(1786-1788)aaG>aaA	p.K596K	LPO_ENST00000582328.1_Silent_p.K513K|LPO_ENST00000543544.1_Silent_p.K537K|LPO_ENST00000421678.2_Silent_p.K513K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	596					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGCCAAGAAGTTACTGGGTC	0.577																																						dbGAP											0													88.0	82.0	84.0					17																	56344804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1788G>A	17.37:g.56344804G>A			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.K596	ENST00000262290.4	37	c.1788	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000167419		0.577	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	40	0.00	0	G			56344804	56344804	+1	no_errors	ENST00000262290	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	0.902	A
NAT10	55226	genome.wustl.edu	37	11	34160963	34160963	+	Silent	SNP	C	C	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr11:34160963C>T	ENST00000257829.3	+	23	2546	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.S708S	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	780	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTTGCTCTCCTACCAGTTCA	0.592																																						dbGAP											0													156.0	158.0	157.0					11																	34160963		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2340C>T	11.37:g.34160963C>T			B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S780	ENST00000257829.3	37	c.2340	CCDS7889.1	11																																																																																			NAT10	-	NULL	ENSG00000135372		0.592	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	64	0.00	0	C	NM_024662		34160963	34160963	+1	no_errors	ENST00000257829	ensembl	human	known	69_37n	silent	45	41.77	33	SNP	1.000	T
OR2T2	401992	genome.wustl.edu	37	1	248616764	248616764	+	Silent	SNP	C	C	T	rs376553658		TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																						dbGAP											0													182.0	125.0	144.0					1																	248616764		2186	4264	6450	-	-	-	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T			B2RNM1|B9EH01	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I222	ENST00000342927.3	37	c.666	CCDS31116.1	1																																																																																			OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	51	0.00	0	C	NM_001004136		248616764	248616764	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	silent	39	32.76	19	SNP	0.001	T
OR4E2	26686	genome.wustl.edu	37	14	22133650	22133650	+	Silent	SNP	G	G	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr14:22133650G>T	ENST00000408935.1	+	1	354	c.354G>T	c.(352-354)gtG>gtT	p.V118V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	118			V -> M (in dbSNP:rs2874103).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGATCATTGTGGCGTATGATC	0.463																																						dbGAP											0													212.0	198.0	203.0					14																	22133650		2065	4216	6281	-	-	-	SO:0001819	synonymous_variant	0				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.354G>T	14.37:g.22133650G>T			Q6IET6|Q96R62	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V118	ENST00000408935.1	37	c.354	CCDS41916.1	14																																																																																			OR4E2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221977		0.463	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	61	0.00	0	G			22133650	22133650	+1	no_errors	ENST00000408935	ensembl	human	known	69_37n	silent	34	64.21	61	SNP	1.000	T
PRSS8	5652	genome.wustl.edu	37	16	31144597	31144597	+	Silent	SNP	G	G	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr16:31144597G>T	ENST00000317508.6	-	3	479	c.216C>A	c.(214-216)ggC>ggA	p.G72G	PRSS8_ENST00000568261.1_Intron|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ACACGAGAGAGCCACCACACA	0.582																																						dbGAP											0													52.0	59.0	56.0					16																	31144597		2178	4283	6461	-	-	-	SO:0001819	synonymous_variant	0			U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.216C>A	16.37:g.31144597G>T			B4DWP2|Q9UCA3	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.G72	ENST00000317508.6	37	c.216	CCDS45469.1	16																																																																																			PRSS8	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000052344		0.582	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS8	HGNC	protein_coding	OTTHUMT00000433536.1	38	0.00	0	G	NM_002773		31144597	31144597	-1	no_errors	ENST00000317508	ensembl	human	known	69_37n	silent	70	13.58	11	SNP	0.312	T
PTPRT	11122	genome.wustl.edu	37	20	41420080	41420080	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr20:41420080C>T	ENST00000373187.1	-	3	240	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	PTPRT_ENST00000373190.1_Missense_Mutation_p.G81R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G81R|PTPRT_ENST00000373198.4_Missense_Mutation_p.G81R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G81R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G81R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G81R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	81	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGCTCTCCCAGAGCTGTTC	0.502																																						dbGAP											0													28.0	31.0	30.0					20																	41420080		1905	4127	6032	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.241G>A	20.37:g.41420080C>T	ENSP00000362283:p.Gly81Arg		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G81R	ENST00000373187.1	37	c.241	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021402	0.54576	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02067	4.47;4.47;4.47;4.47;4.47;4.47;4.47	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.04635	-1.0937	10	0.54805	T	0.06	.	19.478	0.94996	0.0:1.0:0.0:0.0	.	81;81	O14522-1;O14522	.;PTPRT_HUMAN	R	81	ENSP00000362286:G81R;ENSP00000362283:G81R;ENSP00000362289:G81R;ENSP00000348408:G81R;ENSP00000362294:G81R;ENSP00000362280:G81R;ENSP00000362297:G81R	ENSP00000348408:G81R	G	-	1	0	PTPRT	40853494	0.998000	0.40836	0.993000	0.49108	0.997000	0.91878	4.973000	0.63763	2.607000	0.88179	0.462000	0.41574	GGG	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000196090		0.502	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	38	0.00	0	C			41420080	41420080	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	1.000	T
RNF113B	140432	genome.wustl.edu	37	13	98828595	98828595	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr13:98828595C>A	ENST00000267291.6	-	1	924	c.896G>T	c.(895-897)gGc>gTc	p.G299V	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	299							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GTTAAAGATGCCGCCGGTTGG	0.582																																						dbGAP											0													78.0	83.0	81.0					13																	98828595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.896G>T	13.37:g.98828595C>A	ENSP00000267291:p.Gly299Val		Q8WWF9|Q96QY9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.G299V	ENST00000267291.6	37	c.896	CCDS9486.1	13	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701310	0.30142	.	.	ENSG00000139797	ENST00000267291	T	0.39406	1.08	1.57	1.57	0.23409	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	T	0.67869	0.2939	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73477	-0.3970	10	0.87932	D	0	.	9.0801	0.36547	0.0:1.0:0.0:0.0	.	299	Q8IZP6	R113B_HUMAN	V	299	ENSP00000267291:G299V	ENSP00000267291:G299V	G	-	2	0	RNF113B	97626596	0.997000	0.39634	0.384000	0.26145	0.015000	0.08874	4.754000	0.62191	1.176000	0.42840	0.591000	0.81541	GGC	RNF113B	-	NULL	ENSG00000139797		0.582	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113B	HGNC	protein_coding	OTTHUMT00000045536.3	73	0.00	0	C	NM_178861		98828595	98828595	-1	no_errors	ENST00000267291	ensembl	human	known	69_37n	missense	24	66.67	48	SNP	1.000	A
SEMA6A	57556	genome.wustl.edu	37	5	115783352	115783352	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr5:115783352C>G	ENST00000343348.6	-	19	2837	c.2050G>C	c.(2050-2052)Gtg>Ctg	p.V684L	SEMA6A_ENST00000510263.1_Missense_Mutation_p.V684L|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.V161L|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.V701L|SEMA6A_ENST00000503865.1_Missense_Mutation_p.V63L|SEMA6A_ENST00000513137.1_Missense_Mutation_p.V111L|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	684					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTGCGCTGCACCACAGCCACG	0.612																																						dbGAP											0													49.0	56.0	53.0					5																	115783352		2122	4253	6375	-	-	-	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2050G>C	5.37:g.115783352C>G	ENSP00000345512:p.Val684Leu		Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V701L	ENST00000343348.6	37	c.2101	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637157|3.637157	0.67130|0.67130	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263|ENST00000515129	T;T;T;T;T;T|.	0.44482|.	2.25;2.28;0.92;2.74;0.92;2.25|.	4.58|4.58	3.69|3.69	0.42338|0.42338	.|.	0.672992|.	0.13740|.	N|.	0.366063|.	T|T	0.40119|0.40119	0.1104|0.1104	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.15930|.	0.013;0.004;0.015;0.012;0.015;0.01|.	B;B;B;B;B;B|.	0.20767|.	0.015;0.008;0.031;0.03;0.011;0.022|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.09590|.	T|.	0.72|.	.|.	12.6314|12.6314	0.56659|0.56659	0.0:0.9164:0.0:0.0836|0.0:0.9164:0.0:0.0836	.|.	63;684;228;701;161;111|.	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01|.	.;SEM6A_HUMAN;.;.;.;.|.	L|C	684;701;111;161;63;684|198	ENSP00000345512:V684L;ENSP00000257414:V701L;ENSP00000422997:V111L;ENSP00000282394:V161L;ENSP00000425364:V63L;ENSP00000424388:V684L|.	ENSP00000257414:V701L|.	V|W	-|-	1|3	0|0	SEMA6A|SEMA6A	115811251|115811251	0.008000|0.008000	0.16893|0.16893	0.115000|0.115000	0.21578|0.21578	0.988000|0.988000	0.76386|0.76386	1.947000|1.947000	0.40293|0.40293	2.097000|2.097000	0.63578|0.63578	0.555000|0.555000	0.69702|0.69702	GTG|TGG	SEMA6A	-	NULL	ENSG00000092421		0.612	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	35	0.00	0	C	NM_020796		115783352	115783352	-1	no_errors	ENST00000257414	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	0.007	G
SMARCA1	6594	genome.wustl.edu	37	X	128649967	128649967	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chrX:128649967G>A	ENST00000371122.4	-	4	562	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R145C|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R145C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	145					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGCCTATGGCGGTAGCTGAAA	0.358																																						dbGAP											0													133.0	108.0	117.0					X																	128649967		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.433C>T	X.37:g.128649967G>A	ENSP00000360163:p.Arg145Cys		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R145C	ENST00000371122.4	37	c.433	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857580	0.91433	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.98	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	D	0.96592	0.8888	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97406	0.9999	10	0.87932	D	0	-3.9766	17.7767	0.88511	0.0:0.0:1.0:0.0	.	124;145;145;145	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	145;145;145;124	ENSP00000360162:R145C;ENSP00000360164:R145C;ENSP00000360163:R145C;ENSP00000404275:R124C	ENSP00000360162:R145C	R	-	1	0	SMARCA1	128477648	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.845000	0.99498	2.129000	0.65627	0.544000	0.68410	CGC	SMARCA1	-	NULL	ENSG00000102038		0.358	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	101	0.00	0	G	NM_003069		128649967	128649967	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	1.000	A
TMEM200C	645369	genome.wustl.edu	37	18	5891633	5891633	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr18:5891633A>G	ENST00000581347.2	-	3	1075	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.S144P|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	144						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GTGGAGGAGGAGGACGGGGAG	0.652																																						dbGAP											0													59.0	72.0	68.0					18																	5891633		2124	4220	6344	-	-	-	SO:0001583	missense	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.430T>C	18.37:g.5891633A>G	ENSP00000463375:p.Ser144Pro			Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.S144P	ENST00000581347.2	37	c.430	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	A	6.035	0.374889	0.11409	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.54	2.02	0.26589	.	1.121680	0.06556	N	0.745823	T	0.40171	0.1106	N	0.14661	0.345	0.25697	N	0.985626	D	0.63046	0.992	P	0.62885	0.908	T	0.46610	-0.9179	9	0.29301	T	0.29	-12.8751	11.2373	0.48949	0.5454:0.4546:0.0:0.0	.	144	A6NKL6	T200C_HUMAN	P	144	.	ENSP00000372982:S144P	S	-	1	0	TMEM200C	5881633	0.000000	0.05858	0.131000	0.22000	0.420000	0.31355	-0.120000	0.10660	0.187000	0.20147	0.377000	0.23210	TCC	TMEM200C	-	pfam_DUF2371_TMEM200	ENSG00000206432		0.652	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	49	0.00	0	A	NM_001080209		5891633	5891633	-1	no_errors	ENST00000383490	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.701	G
TP53	7157	genome.wustl.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr17:7577082C>G	ENST00000269305.4	-	8	1045	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E286Q|TP53_ENST00000445888.2_Missense_Mutation_p.E286Q|TP53_ENST00000455263.2_Missense_Mutation_p.E286Q|TP53_ENST00000359597.4_Missense_Mutation_p.E286Q	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (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.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	AGATTCTCTTCCTCTGTGCGC	0.557		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"""	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M							95.0	81.0	86.0					17																	7577082		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>C	17.37:g.7577082C>G	ENSP00000269305:p.Glu286Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E286Q	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779646	0.70107	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.987;0.976;0.987;0.989	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Q	286;286;286;286;286;275;154	ENSP00000352610:E286Q;ENSP00000269305:E286Q;ENSP00000398846:E286Q;ENSP00000391127:E286Q;ENSP00000391478:E286Q;ENSP00000425104:E154Q	ENSP00000269305:E286Q	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	80	0.00	0	C	NM_000546		7577082	7577082	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	28	58.21	39	SNP	1.000	G
TRIM51HP	440041	genome.wustl.edu	37	11	55065574	55065574	+	RNA	SNP	T	T	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr11:55065574T>A	ENST00000526016.1	-	0	134					NR_038174.2				tripartite motif-containing 51H, pseudogene																		TGCCATGTTGTCTCCTTGCAT	0.498																																						dbGAP											0																																										-	-	-			0					11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065574T>A				RNA	SNP	-	NULL	ENST00000526016.1	37	NULL		11																																																																																			TRIM51HP	-	-	ENSG00000166007		0.498	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	TRIM51HP	HGNC	pseudogene	OTTHUMT00000391438.1	42	0.00	0	T			55065574	55065574	-1	no_errors	ENST00000526016	ensembl	human	putative	69_37n	rna	9	43.75	7	SNP	0.786	A
VWA3A	146177	genome.wustl.edu	37	16	22142969	22142969	+	Silent	SNP	G	G	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr16:22142969G>A	ENST00000389398.5	+	19	1887	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	597	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGAAGGCTGTGGAAGTAGACT	0.607																																						dbGAP											0													65.0	69.0	68.0					16																	22142969		1995	4159	6154	-	-	-	SO:0001819	synonymous_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1791G>A	16.37:g.22142969G>A			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	NULL	p.G207R	ENST00000389398.5	37	c.619	CCDS45441.1	16																																																																																			VWA3A	-	NULL	ENSG00000175267		0.607	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	42	0.00	0	G			22142969	22142969	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000299840	ensembl	human	known	69_37n	missense	71	10.13	8	SNP	0.814	A
WDR34	89891	genome.wustl.edu	37	9	131397466	131397466	+	Silent	SNP	G	G	A			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr9:131397466G>A	ENST00000372715.2	-	6	946	c.886C>T	c.(886-888)Cta>Tta	p.L296L	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	296						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGCCAGAGTAGCACCTTCCCG	0.642											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													35.0	36.0	35.0					9																	131397466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.886C>T	9.37:g.131397466G>A		1587	Q5VXV4|Q9BV46	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L296	ENST00000372715.2	37	c.886	CCDS6906.2	9																																																																																			WDR34	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000119333		0.642	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR34	HGNC	protein_coding	OTTHUMT00000054463.1	14	0.00	0	G	NM_052844		131397466	131397466	-1	no_errors	ENST00000372715	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	1.000	A
WIPF1	7456	genome.wustl.edu	37	2	175436606	175436606	+	Silent	SNP	C	C	T			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr2:175436606C>T	ENST00000392547.2	-	5	1026	c.927G>A	c.(925-927)ccG>ccA	p.P309P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P309P|WIPF1_ENST00000409415.3_Silent_p.P309P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P309P|WIPF1_ENST00000392546.2_Silent_p.P309P|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409891.1_Silent_p.P309P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	309	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGTGGCGGCGGAGGTGGGG	0.657																																						dbGAP											0													23.0	27.0	26.0					2																	175436606		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.927G>A	2.37:g.175436606C>T			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P309	ENST00000392547.2	37	c.927	CCDS2260.1	2																																																																																			WIPF1	-	NULL	ENSG00000115935		0.657	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	44	0.00	0	C	NM_003387		175436606	175436606	-1	no_errors	ENST00000272746	ensembl	human	known	69_37n	silent	24	25.00	8	SNP	0.089	T
ZNF281	23528	genome.wustl.edu	37	1	200378052	200378052	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1RB-01A-11D-A17G-09	TCGA-E9-A1RB-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2ce0333c-deca-4199-a06c-ede43c5575fc	a4297226-b312-4048-b61f-58bfbc792aef	g.chr1:200378052T>C	ENST00000294740.3	-	2	906	c.782A>G	c.(781-783)cAt>cGt	p.H261R	ZNF281_ENST00000367352.3_Missense_Mutation_p.H225R|ZNF281_ENST00000367353.1_Missense_Mutation_p.H261R	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	261					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATCACAGATATGAGGTTTCTG	0.493																																						dbGAP											0													112.0	106.0	108.0					1																	200378052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.782A>G	1.37:g.200378052T>C	ENSP00000294740:p.His261Arg		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H261R	ENST00000294740.3	37	c.782	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659562	0.67586	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.12984	2.63;2.63;2.63	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.55990	1.75	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.03221	-1.1059	10	0.87932	D	0	0.6404	15.8694	0.79101	0.0:0.0:0.0:1.0	.	225;261	A6NF48;Q9Y2X9	.;ZN281_HUMAN	R	261;261;225	ENSP00000294740:H261R;ENSP00000356322:H261R;ENSP00000356321:H225R	ENSP00000294740:H261R	H	-	2	0	ZNF281	198644675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.528000	0.81941	2.137000	0.66172	0.533000	0.62120	CAT	ZNF281	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000162702		0.493	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	59	0.00	0	T	NM_012482		200378052	200378052	-1	no_errors	ENST00000294740	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	C
