#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANK1	286	genome.wustl.edu	37	8	41554016	41554016	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr8:41554016G>A	ENST00000347528.4	-	26	2908	c.2825C>T	c.(2824-2826)aCg>aTg	p.T942M	ANK1_ENST00000396945.1_Missense_Mutation_p.T942M|ANK1_ENST00000265709.8_Missense_Mutation_p.T983M|ANK1_ENST00000379758.2_Missense_Mutation_p.T942M|ANK1_ENST00000289734.7_Missense_Mutation_p.T942M|ANK1_ENST00000352337.4_Missense_Mutation_p.T942M|ANK1_ENST00000396942.1_Missense_Mutation_p.T942M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	942	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGCTGCGCACGTCCGTGGCGG	0.677																																						dbGAP											0													44.0	43.0	43.0					8																	41554016		2203	4299	6502	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2825C>T	8.37:g.41554016G>A	ENSP00000339620:p.Thr942Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.T942M	ENST00000347528.4	37	c.2825	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397193	0.83120	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.67	5.67	0.87782	ZU5 (3);	0.104680	0.64402	D	0.000004	T	0.62575	0.2439	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.993;0.992;0.992;0.988;0.993;0.998	T	0.63778	-0.6560	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	983;942;942;942;942;258	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	M	942;942;942;942;942;942;983;942	ENSP00000339620:T942M;ENSP00000289734:T942M;ENSP00000369082:T942M;ENSP00000380149:T942M;ENSP00000380147:T942M;ENSP00000309131:T942M;ENSP00000265709:T983M	ENSP00000265709:T983M	T	-	2	0	ANK1	41673173	1.000000	0.71417	0.829000	0.32907	0.805000	0.45488	5.594000	0.67557	2.686000	0.91538	0.561000	0.74099	ACG	ANK1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000029534		0.677	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	25	0.00	0	G	NM_020475		41554016	41554016	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.985	A
CBLB	868	genome.wustl.edu	37	3	105572448	105572448	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr3:105572448T>C	ENST00000264122.4	-	3	550	c.229A>G	c.(229-231)Att>Gtt	p.I77V	CBLB_ENST00000405772.1_Missense_Mutation_p.I77V|CBLB_ENST00000403724.1_Missense_Mutation_p.I77V|CBLB_ENST00000394027.3_Missense_Mutation_p.I99V|CBLB_ENST00000545639.1_Missense_Mutation_p.I99V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	77	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCAGGCAAAATATCAAGTATA	0.299			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													90.0	89.0	89.0					3																	105572448		2202	4298	6500	-	-	-	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.229A>G	3.37:g.105572448T>C	ENSP00000264122:p.Ile77Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.I77V	ENST00000264122.4	37	c.229	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376715	0.82682	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.55	5.55	0.83447	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	M	0.62723	1.935	0.80722	D	1	P;P;P	0.52170	0.882;0.857;0.951	D;D;P	0.68765	0.96;0.933;0.902	D	0.87596	0.2494	10	0.87932	D	0	-17.722	15.6941	0.77481	0.0:0.0:0.0:1.0	.	99;77;77	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	V	77;99;77;77;99;99;77;77	ENSP00000264122:I77V;ENSP00000377595:I99V;ENSP00000384816:I77V;ENSP00000384938:I77V;ENSP00000446116:I99V;ENSP00000409750:I99V;ENSP00000400949:I77V;ENSP00000393906:I77V	ENSP00000264122:I77V	I	-	1	0	CBLB	107055138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.033000	0.70925	2.101000	0.63845	0.459000	0.35465	ATT	CBLB	-	pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx	ENSG00000114423		0.299	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	225	0.00	0	T	NM_170662		105572448	105572448	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	96	37.66	58	SNP	1.000	C
CGB2	114336	genome.wustl.edu	37	19	49535834	49535834	+	Missense_Mutation	SNP	G	G	A	rs58969991	byFrequency	TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr19:49535834G>A	ENST00000359342.6	+	2	201	c.83G>A	c.(82-84)cGc>cAc	p.R28H	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	60						extracellular region (GO:0005576)				large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCACGGTGCCGCCCCATCAAT	0.657													g|||	573	0.114417	0.2595	0.0677	5008	,	,		17661	0.0565		0.0915	False		,,,				2504	0.0348					dbGAP											0													4.0	6.0	6.0					19																	49535834		1148	2224	3372	-	-	-	SO:0001583	missense	0			K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.83G>A	19.37:g.49535834G>A	ENSP00000352295:p.Arg28His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVM5	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.R28H	ENST00000359342.6	37	c.83	CCDS12750.2	19	.	.	.	.	.	.	.	.	.	.	g	4.246	0.044546	0.08196	.	.	ENSG00000104818	ENST00000538959;ENST00000359342	D	0.90788	-2.73	1.79	0.725	0.18242	Cystine knot (2);	0.277463	0.35495	N	0.003164	T	0.81113	0.4755	L	0.42632	1.34	0.39004	P	0.040596999999999994	B;B;B	0.34103	0.437;0.213;0.061	B;B;B	0.28849	0.095;0.057;0.014	T	0.73786	-0.3873	9	0.26408	T	0.33	-23.1908	4.032	0.09713	0.3883:0.0:0.6117:0.0	.	60;30;46	Q6NT52;P01233;P01233-2	CGB2_HUMAN;CGHB_HUMAN;.	H	28	ENSP00000352295:R28H	ENSP00000352295:R28H	R	+	2	0	CGB2	54227646	0.998000	0.40836	0.956000	0.39512	0.110000	0.19582	0.688000	0.25422	0.318000	0.23185	0.184000	0.17185	CGC	CGB2	-	pfam_Cys_knot,smart_Gonadotropin_bsu	ENSG00000104818		0.657	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB2	HGNC	protein_coding	OTTHUMT00000316745.1	9	0.00	0	G	NM_033378		49535834	49535834	+1	no_errors	ENST00000359342	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	A
CRHR1	1394	genome.wustl.edu	37	17	43893925	43893925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr17:43893925delA	ENST00000398285.3	+	3	218	c.218delA	c.(217-219)tatfs	p.Y73fs	CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Frame_Shift_Del_p.Y73fs|CRHR1_ENST00000339069.5_Start_Codon_Del|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000577353.1_Frame_Shift_Del_p.Y73fs|CRHR1_ENST00000352855.5_Intron	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	73					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCTTTTTCTATGGTGTCCGC	0.612																																					Ovarian(110;57 1568 10207 38216 49865)	dbGAP											0													48.0	50.0	49.0					17																	43893925		1957	4134	6091	-	-	-	SO:0001589	frameshift_variant	0			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.218delA	17.37:g.43893925delA	ENSP00000381333:p.Tyr73fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.Y73fs	ENST00000398285.3	37	c.218	CCDS45712.1	17																																																																																			CRHR1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt	ENSG00000120088		0.612	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	33	0.00	0	A			43893925	43893925	+1	no_errors	ENST00000398285	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
DDX3X	1654	genome.wustl.edu	37	X	41201888	41201888	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chrX:41201888C>T	ENST00000399959.2	+	5	1280	c.425C>T	c.(424-426)cCa>cTa	p.P142L	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.P186L|DDX3X_ENST00000457138.2_Missense_Mutation_p.P126L|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	142	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCACTCCCACCAAGTGAACGC	0.403										HNSCC(61;0.18)																												dbGAP											0													106.0	105.0	105.0					X																	41201888		2202	4300	6502	-	-	-	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.425C>T	X.37:g.41201888C>T	ENSP00000382840:p.Pro142Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P142L	ENST00000399959.2	37	c.425	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264615	0.80358	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.48836	2.07;2.05;0.8	5.75	5.75	0.90469	.	0.159151	0.56097	D	0.000029	T	0.50956	0.1646	M	0.76433	2.335	0.80722	D	1	P;B;B;B;P	0.46859	0.885;0.011;0.032;0.354;0.57	B;B;B;B;B	0.38616	0.277;0.017;0.017;0.119;0.179	T	0.57365	-0.7824	10	0.42905	T	0.14	-8.3848	18.9517	0.92643	0.0:1.0:0.0:0.0	.	142;126;142;154;142	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	L	142;126;186	ENSP00000382840:P142L;ENSP00000392494:P126L;ENSP00000439799:P186L	ENSP00000382840:P142L	P	+	2	0	DDX3X	41086832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	2.424000	0.82194	0.600000	0.82982	CCA	DDX3X	-	NULL	ENSG00000215301		0.403	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	138	0.00	0	C	NM_024005		41201888	41201888	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	missense	116	17.14	24	SNP	1.000	T
ESX1	80712	genome.wustl.edu	37	X	103499462	103499462	+	Silent	SNP	G	G	A			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chrX:103499462G>A	ENST00000372588.4	-	1	152	c.69C>T	c.(67-69)atC>atT	p.I23I		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	23					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCACTTCCTCGATGTCCTCGC	0.562																																					Pancreas(200;1705 2227 25194 28471 45274)	dbGAP											0													207.0	175.0	186.0					X																	103499462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.69C>T	X.37:g.103499462G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU3|Q7Z6K7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain	p.I23	ENST00000372588.4	37	c.69	CCDS14516.1	X																																																																																			ESX1	-	NULL	ENSG00000123576		0.562	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	188	0.00	0	G	NM_153448		103499462	103499462	-1	no_errors	ENST00000372588	ensembl	human	known	69_37n	silent	59	19.18	14	SNP	0.000	A
GOLGA6L17P	642402	genome.wustl.edu	37	15	85053254	85053254	+	RNA	SNP	T	T	C			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr15:85053254T>C	ENST00000414190.2	-	0	198					NR_003246.2																						TACCAACAGCTTCTCCACTCA	0.577																																						dbGAP											0																																										-	-	-			0																															15.37:g.85053254T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-	ENSG00000230373		0.577	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1	15	0.00	0	T			85053254	85053254	-1	no_errors	ENST00000414190	ensembl	human	known	69_37n	rna	7	30.00	3	SNP	0.973	C
GOLGB1	2804	genome.wustl.edu	37	3	121410367	121410367	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr3:121410367G>C	ENST00000340645.5	-	14	7954	c.7829C>G	c.(7828-7830)tCt>tGt	p.S2610C	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2615C	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2610					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGGGATATAGATACTTTCAA	0.393																																						dbGAP											0													82.0	84.0	83.0					3																	121410367		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7829C>G	3.37:g.121410367G>C	ENSP00000341848:p.Ser2610Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.S2610C	ENST00000340645.5	37	c.7829	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	0.145	-1.097421	0.01843	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15603	2.41;2.41	4.88	4.01	0.46588	.	0.210929	0.33938	N	0.004401	T	0.13927	0.0337	L	0.48362	1.52	0.09310	N	1	B;B;P	0.36789	0.037;0.037;0.57	B;B;B	0.35039	0.066;0.066;0.194	T	0.17137	-1.0379	10	0.52906	T	0.07	.	6.5941	0.22664	0.0959:0.1822:0.7219:0.0	.	2615;2615;2610	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	C	2610;2615	ENSP00000341848:S2610C;ENSP00000377275:S2615C	ENSP00000341848:S2610C	S	-	2	0	GOLGB1	122893057	0.812000	0.29077	0.007000	0.13788	0.017000	0.09413	3.024000	0.49674	1.271000	0.44313	0.655000	0.94253	TCT	GOLGB1	-	smart_Leu_zip_homeo	ENSG00000173230		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	443	0.00	0	G	NM_004487		121410367	121410367	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	145	16.67	29	SNP	0.075	C
KCNA7	3743	genome.wustl.edu	37	19	49573837	49573838	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr19:49573837_49573838delAC	ENST00000221444.1	-	2	1208_1209	c.853_854delGT	c.(853-855)gtcfs	p.V285fs		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	285					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GATGCGGAAGACACGCACCAAT	0.619																																					Colon(74;686 1235 3793 23366 48562)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.853_854delGT	19.37:g.49573839_49573840delAC	ENSP00000221444:p.Val285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYX7|Q9BYS4	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.V285fs	ENST00000221444.1	37	c.854_853	CCDS12755.1	19																																																																																			KCNA7	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000104848		0.619	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	HGNC	protein_coding	OTTHUMT00000466263.1	40	0.00	0	AC	NM_031886		49573837	49573838	-1	no_errors	ENST00000221444	ensembl	human	known	69_37n	frame_shift_del	2	66.67	4	DEL	1.000:1.000	-
KCNN2	3781	genome.wustl.edu	37	5	113822457	113822458	+	Intron	INS	-	-	A	rs574199054		TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr5:113822457_113822458insA	ENST00000512097.3	+	7	2272				RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Intron|KCNN2_ENST00000264773.3_Intron|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACCCCTTGATTAAAAAAAAAAA	0.351																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1255-289->A	5.37:g.113822468_113822468dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Frame_Shift_Ins	INS	pfam_Ion_trans_2	p.K95fs	ENST00000512097.3	37	c.273_274	CCDS4114.1	5																																																																																			KCNN2	-	NULL	ENSG00000080709		0.351	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	13	0.00	0	-	NM_021614		113822457	113822458	+1	no_errors	ENST00000505491	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	0.000:0.000	A
KLF11	8462	genome.wustl.edu	37	2	10188252	10188252	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr2:10188252A>G	ENST00000305883.1	+	3	950	c.788A>G	c.(787-789)aAt>aGt	p.N263S	KLF11_ENST00000535335.1_Missense_Mutation_p.N246S|KLF11_ENST00000540845.1_Missense_Mutation_p.N246S	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	263					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TCACCAAAGAATTATGAAAAT	0.547																																					Melanoma(56;431 1507 23687 50789)	dbGAP											0													119.0	120.0	120.0					2																	10188252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.788A>G	2.37:g.10188252A>G	ENSP00000307023:p.Asn263Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE7|Q9EPF4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N263S	ENST00000305883.1	37	c.788	CCDS1668.1	2	.	.	.	.	.	.	.	.	.	.	A	2.438	-0.329180	0.05314	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.12672	2.67;2.66;2.66	5.07	1.37	0.22104	.	0.619526	0.17624	N	0.167630	T	0.09905	0.0243	L	0.38953	1.18	0.23563	N	0.997409	B	0.14438	0.01	B	0.14023	0.01	T	0.32587	-0.9901	9	.	.	.	.	8.7001	0.34320	0.6897:0.0:0.3103:0.0	.	263	O14901	KLF11_HUMAN	S	263;246;246	ENSP00000307023:N263S;ENSP00000444690:N246S;ENSP00000442722:N246S	.	N	+	2	0	KLF11	10105703	0.321000	0.24625	0.427000	0.26684	0.529000	0.34654	0.797000	0.26999	0.288000	0.22398	0.334000	0.21626	AAT	KLF11	-	NULL	ENSG00000172059		0.547	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3	83	0.00	0	A	NM_003597		10188252	10188252	+1	no_errors	ENST00000305883	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.584	G
MCOLN3	55283	genome.wustl.edu	37	1	85491733	85491733	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr1:85491733T>G	ENST00000370589.2	-	9	1036	c.984A>C	c.(982-984)gaA>gaC	p.E328D	MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.E272D|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'Flank	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	328					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AAACAGAAACTTCCTTCTTAT	0.338																																						dbGAP											0													53.0	51.0	52.0					1																	85491733		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.984A>C	1.37:g.85491733T>G	ENSP00000359621:p.Glu328Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.E328D	ENST00000370589.2	37	c.984	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885581	0.17540	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.76839	-1.05;-1.05	6.16	0.892	0.19230	.	0.728849	0.14558	N	0.312253	T	0.27454	0.0674	N	0.15975	0.35	0.29162	N	0.877678	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.06445	-1.0826	10	0.11794	T	0.64	-8.2683	0.8972	0.01266	0.2181:0.1321:0.2262:0.4235	.	328;272;328	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	D	328;328;272;272	ENSP00000359621:E328D;ENSP00000342698:E272D	ENSP00000304843:E328D	E	-	3	2	MCOLN3	85264321	0.128000	0.22383	0.895000	0.35142	0.916000	0.54674	-0.432000	0.06956	-0.091000	0.12440	-0.299000	0.09455	GAA	MCOLN3	-	NULL	ENSG00000055732		0.338	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	147	0.00	0	T	NM_018298		85491733	85491733	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	missense	97	19.17	23	SNP	0.671	G
MECP2	4204	genome.wustl.edu	37	X	153296385	153296385	+	Missense_Mutation	SNP	C	C	G	rs63749747|rs267608540		TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chrX:153296385C>G	ENST00000303391.6	-	4	1143	c.894G>C	c.(892-894)gaG>gaC	p.E298D	MECP2_ENST00000453960.2_Missense_Mutation_p.E310D|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	298					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTACGGTCTCCTGCACAG	0.607																																						dbGAP											0													84.0	73.0	77.0					X																	153296385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.894G>C	X.37:g.153296385C>G	ENSP00000301948:p.Glu298Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.E298D	ENST00000303391.6	37	c.894	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254143	0.59212	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.92446	-3.04;-3.03	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.92067	0.7486	L	0.27053	0.805	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	D	0.92275	0.5828	10	0.62326	D	0.03	-27.7224	11.9807	0.53119	0.0:0.9098:0.0:0.0902	.	310;298	P51608-2;P51608	.;MECP2_HUMAN	D	298;298;310	ENSP00000301948:E298D;ENSP00000395535:E310D	ENSP00000301948:E298D	E	-	3	2	MECP2	152949579	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.715000	0.47210	2.344000	0.79699	0.600000	0.82982	GAG	MECP2	-	pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.607	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	106	0.00	0	C	NM_004992		153296385	153296385	-1	no_errors	ENST00000303391	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	1.000	G
MUC6	4588	genome.wustl.edu	37	11	1016078	1016079	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr11:1016078_1016079insG	ENST00000421673.2	-	31	6772_6773	c.6722_6723insC	c.(6721-6723)ctafs	p.L2241fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2241	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGAGGCTAGGTGGCTGGA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6722_6723insC	11.37:g.1016078_1016079insG	ENSP00000406861:p.Leu2241fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A2242fs	ENST00000421673.2	37	c.6723_6722	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.609	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	16	0.00	0	-	XM_290540		1016078	1016079	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	frame_shift_ins	20	37.50	12	INS	0.000:0.000	G
PAK7	57144	genome.wustl.edu	37	20	9520175	9520175	+	Silent	SNP	T	T	C			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr20:9520175T>C	ENST00000378429.3	-	11	2640	c.2094A>G	c.(2092-2094)ccA>ccG	p.P698P	PAK7_ENST00000353224.5_Silent_p.P698P|PAK7_ENST00000378423.1_Silent_p.P698P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTTTAAGAATGGATGTCCGA	0.512																																						dbGAP											0													242.0	220.0	227.0					20																	9520175		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2094A>G	20.37:g.9520175T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.P698	ENST00000378429.3	37	c.2094	CCDS13107.1	20																																																																																			PAK7	-	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	ENSG00000101349		0.512	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	365	0.00	0	T			9520175	9520175	-1	no_errors	ENST00000353224	ensembl	human	known	69_37n	silent	207	30.33	91	SNP	0.440	C
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	119	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	86	27.12	32	SNP	1.000	A
PRRX1	5396	genome.wustl.edu	37	1	170695522	170695522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr1:170695522G>A	ENST00000239461.6	+	3	892	c.579G>A	c.(577-579)tgG>tgA	p.W193*	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Nonsense_Mutation_p.W193*|PRRX1_ENST00000497230.2_Nonsense_Mutation_p.W193*	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	193					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCTCTCCTGGGGGACAGCGT	0.562																																						dbGAP											0													98.0	90.0	93.0					1																	170695522		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.579G>A	1.37:g.170695522G>A	ENSP00000239461:p.Trp193*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM7|O60807	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.W193*	ENST00000239461.6	37	c.579	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.359329	0.98235	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7361	0.88394	0.0:0.0:1.0:0.0	.	.	.	.	X	193;193;193;38;38	.	ENSP00000239461:W193X	W	+	3	0	PRRX1	168962146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.172000	0.94808	2.533000	0.85409	0.650000	0.86243	TGG	PRRX1	-	NULL	ENSG00000116132		0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	130	0.00	0	G	NM_006902		170695522	170695522	+1	no_errors	ENST00000239461	ensembl	human	known	69_37n	nonsense	94	22.31	27	SNP	1.000	A
PTPRR	5801	genome.wustl.edu	37	12	71029633	71029633	+	IGR	SNP	G	G	T			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr12:71029633G>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Missense_Mutation_p.A90E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.A89E|PTPRB_ENST00000550358.1_Missense_Mutation_p.A90E|PTPRR_ENST00000537619.2_5'Flank	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCATCGGGGTGCCTGGGAACA	0.547																																						dbGAP											0													53.0	53.0	53.0					12																	71029633		1966	4144	6110	-	-	-	SO:0001628	intergenic_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029633G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A90E	ENST00000283228.2	37	c.269	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981772	0.93044	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.26518	1.73;1.73;1.73	6.04	6.04	0.98038	.	.	.	.	.	T	0.44767	0.1309	L	0.32530	0.975	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;0.999;0.998;0.998	T	0.27468	-1.0073	9	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	90;89;90;90	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	E	90;90;90;89	ENSP00000334928:A90E;ENSP00000448058:A90E;ENSP00000448349:A89E	ENSP00000334928:A90E	A	-	2	0	PTPRB	69315900	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.159000	0.77483	2.873000	0.98535	0.563000	0.77884	GCA	PTPRB	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin	ENSG00000127329		0.547	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404485.1	67	0.00	0	G	NM_002849		71029633	71029633	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	1.000	T
PYHIN1	149628	genome.wustl.edu	37	1	158912143	158912143	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr1:158912143A>T	ENST00000368140.1	+	5	1201	c.956A>T	c.(955-957)aAa>aTa	p.K319I	PYHIN1_ENST00000392254.2_Missense_Mutation_p.K319I|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K310I|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K310I|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	319	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ATTCTTCACAAACAAACTTCA	0.353																																						dbGAP											0													54.0	56.0	55.0					1																	158912143		2196	4291	6487	-	-	-	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.956A>T	1.37:g.158912143A>T	ENSP00000357122:p.Lys319Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K319I	ENST00000368140.1	37	c.956	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920615	0.33908	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	2.85	-1.77	0.07982	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.14270	0.0345	L	0.54323	1.7	0.09310	N	1	D;P;D;P	0.55800	0.973;0.531;0.973;0.925	D;P;D;D	0.69824	0.966;0.726;0.966;0.933	T	0.07790	-1.0754	9	0.72032	D	0.01	.	3.4043	0.07335	0.4124:0.2044:0.0:0.3833	.	310;319;310;319	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	I	319;310;319;310	ENSP00000357122:K319I;ENSP00000357120:K310I;ENSP00000376083:K319I;ENSP00000376082:K310I	ENSP00000357120:K310I	K	+	2	0	PYHIN1	157178767	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.673000	0.01951	-0.530000	0.06349	-0.316000	0.08728	AAA	PYHIN1	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163564		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	110	0.00	0	A	NM_152501		158912143	158912143	+1	no_errors	ENST00000368140	ensembl	human	known	69_37n	missense	87	11.22	11	SNP	0.000	T
SERPINB8	5271	genome.wustl.edu	37	18	61654433	61654433	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr18:61654433C>A	ENST00000397985.2	+	7	1302	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.A167E|SERPINB8_ENST00000353706.2_Missense_Mutation_p.A349E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	349					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGATTCTGTGCAGACCACCCT	0.512																																						dbGAP											0													96.0	94.0	95.0					18																	61654433		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1046C>A	18.37:g.61654433C>A	ENSP00000381072:p.Ala349Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.A349E	ENST00000397985.2	37	c.1046	CCDS11991.1	18	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812074	0.70797	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.85702	-2.02;-2.02;2.4	5.65	4.74	0.60224	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.203488	0.51477	D	0.000086	D	0.94364	0.8188	H	0.97611	4.04	0.58432	D	0.999993	D	0.76494	0.999	D	0.78314	0.991	D	0.94705	0.7887	10	0.87932	D	0	.	9.2896	0.37778	0.0:0.8315:0.0:0.1685	.	349	P50452	SPB8_HUMAN	E	349;349;167	ENSP00000381072:A349E;ENSP00000331368:A349E;ENSP00000438328:A167E	ENSP00000331368:A349E	A	+	2	0	SERPINB8	59805413	0.998000	0.40836	1.000000	0.80357	0.590000	0.36582	3.061000	0.49963	1.534000	0.49203	-0.345000	0.07892	GCA	SERPINB8	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166401		0.512	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB8	HGNC	protein_coding	OTTHUMT00000134014.1	155	0.64	1	C	NM_001031848		61654433	61654433	+1	no_errors	ENST00000353706	ensembl	human	known	69_37n	missense	110	14.73	19	SNP	0.975	A
SETD7	80854	genome.wustl.edu	37	4	140450374	140450374	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr4:140450374C>T	ENST00000274031.3	-	4	1009	c.373G>A	c.(373-375)Gat>Aat	p.D125N	SETD7_ENST00000506866.2_Splice_Site_p.D125N	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	125					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CTTCCTCCATCCTGATGGGAG	0.408																																						dbGAP											0													101.0	97.0	98.0					4																	140450374		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.373-1G>A	4.37:g.140450374C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom	p.D125N	ENST00000274031.3	37	c.373	CCDS3748.1	4	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990906	0.93106	.	.	ENSG00000145391	ENST00000506866;ENST00000274031	T;T	0.58797	0.31;0.31	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63616	-0.6597	10	0.28530	T	0.3	-22.3715	18.1035	0.89513	0.0:1.0:0.0:0.0	.	125	Q8WTS6	SETD7_HUMAN	N	125	ENSP00000427300:D125N;ENSP00000274031:D125N	ENSP00000274031:D125N	D	-	1	0	SETD7	140669824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.458000	0.80787	2.275000	0.75901	0.561000	0.74099	GAT	SETD7	-	pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET	ENSG00000145391		0.408	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD7	HGNC	protein_coding	OTTHUMT00000257236.1	183	0.00	0	C	NM_030648	Missense_Mutation	140450374	140450374	-1	no_errors	ENST00000274031	ensembl	human	known	69_37n	missense	120	21.05	32	SNP	1.000	T
SLC27A4	10999	genome.wustl.edu	37	9	131110900	131110901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr9:131110900_131110901insT	ENST00000300456.4	+	4	750_751	c.633_634insT	c.(634-636)cctfs	p.P212fs	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	212					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCGGTGCGGTGCCTCCAAGCAC	0.639																																					Pancreas(107;1554 2241 10946 12953)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	Exception_encountered	9.37:g.131110900_131110901insT	ENSP00000300456:p.Pro212fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F7|O95186|Q96G53	Frame_Shift_Ins	INS	pfam_AMP-dep_Synth/Lig	p.P211fs	ENST00000300456.4	37	c.633_634	CCDS6899.1	9																																																																																			SLC27A4	-	pfam_AMP-dep_Synth/Lig	ENSG00000167114		0.639	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2	44	0.00	0	-			131110900	131110901	+1	no_errors	ENST00000300456	ensembl	human	known	69_37n	frame_shift_ins	18	37.93	11	INS	0.996:1.000	T
TP53	7157	genome.wustl.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(29)|p.0?(8)|p.E258fs*71(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)	TGGCTCCTGACCTGGAGTCTT	0.572		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"""	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121.0	85.0	97.0					17																	7577498		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6+1	ENST00000269305.4	37	c.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	TP53	-	-	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	37	0.00	0	C	NM_000546	Intron	7577498	7577498	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	14	48.15	13	SNP	1.000	T
UBN1	29855	genome.wustl.edu	37	16	4920242	4920242	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr16:4920242G>A	ENST00000396658.4	+	8	1914	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	UBN1_ENST00000545171.1_Missense_Mutation_p.S404N|UBN1_ENST00000262376.6_Missense_Mutation_p.S404N|UBN1_ENST00000590769.1_Missense_Mutation_p.S404N|UBN1_ENST00000585857.1_3'UTR	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	404					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGCTGAGCAGTCAGGTCCGC	0.562																																						dbGAP											0													109.0	94.0	99.0					16																	4920242		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1211G>A	16.37:g.4920242G>A	ENSP00000379894:p.Ser404Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.S404N	ENST00000396658.4	37	c.1211	CCDS10525.1	16	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128086	0.37533	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.44881	0.91;0.91;0.91	5.45	5.45	0.79879	.	0.261358	0.44285	D	0.000463	T	0.53578	0.1805	L	0.50333	1.59	0.30934	N	0.726599	D;D	0.63880	0.991;0.993	P;P	0.60012	0.791;0.867	T	0.54576	-0.8273	10	0.31617	T	0.26	-10.2649	14.8458	0.70259	0.0:0.1433:0.8567:0.0	.	404;404	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	404	ENSP00000262376:S404N;ENSP00000442379:S404N;ENSP00000379894:S404N	ENSP00000262376:S404N	S	+	2	0	UBN1	4860243	0.998000	0.40836	1.000000	0.80357	0.066000	0.16364	1.674000	0.37544	2.567000	0.86603	0.655000	0.94253	AGT	UBN1	-	NULL	ENSG00000118900		0.562	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	87	0.00	0	G	NM_016936		4920242	4920242	+1	no_errors	ENST00000262376	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	0.985	A
XRN2	22803	genome.wustl.edu	37	20	21307234	21307234	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03L-01A-41W-A071-09	TCGA-AO-A03L-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	743a29c4-e1cc-457a-8406-765f1a1bc114	678ca994-371f-4329-81c7-17b93fd4ba0c	g.chr20:21307234G>A	ENST00000377191.3	+	3	405	c.310G>A	c.(310-312)Gga>Aga	p.G104R	XRN2_ENST00000539513.1_Missense_Mutation_p.G50R|XRN2_ENST00000430571.2_Missense_Mutation_p.G28R	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	104					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GGCAATAGATGGAGTGGTAAG	0.328																																						dbGAP											0													72.0	73.0	72.0					20																	21307234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.310G>A	20.37:g.21307234G>A	ENSP00000366396:p.Gly104Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.G104R	ENST00000377191.3	37	c.310	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735660	0.89482	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.71461	-0.57;-0.43;-0.44	5.51	5.51	0.81932	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94292	0.7529	10	0.87932	D	0	-20.9804	19.4545	0.94882	0.0:0.0:1.0:0.0	.	104	Q9H0D6	XRN2_HUMAN	R	104;28;50	ENSP00000366396:G104R;ENSP00000413548:G28R;ENSP00000441113:G50R	ENSP00000366396:G104R	G	+	1	0	XRN2	21255234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.444000	0.97578	2.590000	0.87494	0.650000	0.86243	GGA	XRN2	-	pfam_Put_53exo,pirsf_5_3_exoribonuclease_2	ENSG00000088930		0.328	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	59	0.00	0	G	NM_012255		21307234	21307234	+1	no_errors	ENST00000377191	ensembl	human	known	69_37n	missense	60	35.48	33	SNP	1.000	A
