#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
B4GALT6	9331	genome.wustl.edu	37	18	29210933	29210933	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr18:29210933T>G	ENST00000306851.5	-	6	1061	c.765A>C	c.(763-765)aaA>aaC	p.K255N	B4GALT6_ENST00000383131.3_Missense_Mutation_p.K216N|B4GALT6_ENST00000237019.7_Missense_Mutation_p.K216N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	255					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.K255N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TATACATGTATTTATCCAGCT	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	119.0	128.0					18																	29210933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.765A>C	18.37:g.29210933T>G	ENSP00000306459:p.Lys255Asn		O60514|Q6NT09	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.K255N	ENST00000306851.5	37	c.765	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673170	0.67928	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.34859	1.34;1.34;1.34	5.5	-2.24	0.06909	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.75615	2.305	0.45129	D	0.998142	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.75020	0.979;0.964;0.985	T	0.60692	-0.7213	10	0.87932	D	0	-16.7624	13.9032	0.63819	0.0:0.556:0.0:0.444	.	216;216;255	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	N	255;216;216	ENSP00000306459:K255N;ENSP00000237019:K216N;ENSP00000372613:K216N	ENSP00000237019:K216N	K	-	3	2	B4GALT6	27464931	0.948000	0.32251	0.992000	0.48379	0.949000	0.60115	0.031000	0.13710	-0.302000	0.08869	-0.361000	0.07541	AAA	B4GALT6	-	pfam_Galactosyl_T_2_met	ENSG00000118276		0.393	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2	86	0.00	0	T	NM_004775		29210933	29210933	-1	no_errors	ENST00000306851	ensembl	human	known	69_37n	missense	71	21.98	20	SNP	0.986	G
BCL11A	53335	genome.wustl.edu	37	2	60688385	60688385	+	Silent	SNP	G	G	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr2:60688385G>T	ENST00000335712.6	-	4	1889	c.1662C>A	c.(1660-1662)tcC>tcA	p.S554S	BCL11A_ENST00000356842.4_Silent_p.S554S|BCL11A_ENST00000538214.1_Silent_p.S520S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S520S|BCL11A_ENST00000537768.1_Silent_p.S223S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	554					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.S554S(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTGCTGCATGGAGCTGAGCA	0.706			T	IGH@	B-CLL																																	dbGAP		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	2	Substitution - coding silent(2)	breast(2)											23.0	23.0	23.0					2																	60688385		2199	4289	6488	-	-	-	SO:0001819	synonymous_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1662C>A	2.37:g.60688385G>T			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S554	ENST00000335712.6	37	c.1662	CCDS1862.1	2																																																																																			BCL11A	-	NULL	ENSG00000119866		0.706	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	15	0.00	0	G	NM_022893		60688385	60688385	-1	no_errors	ENST00000335712	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	1.000	T
BMS1	9790	genome.wustl.edu	37	10	43292558	43292558	+	Silent	SNP	A	A	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr10:43292558A>G	ENST00000374518.5	+	10	1929	c.1866A>G	c.(1864-1866)caA>caG	p.Q622Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	622					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.Q622Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCCTTCTCAAGTGAGCAGTG	0.393																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											47.0	50.0	49.0					10																	43292558		2198	4295	6493	-	-	-	SO:0001819	synonymous_variant	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1866A>G	10.37:g.43292558A>G			Q5QPT5|Q86XJ9	Silent	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN	p.Q622	ENST00000374518.5	37	c.1866	CCDS7199.1	10																																																																																			BMS1	-	NULL	ENSG00000165733		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	56	0.00	0	A	NM_014753		43292558	43292558	+1	no_errors	ENST00000374518	ensembl	human	known	69_37n	silent	34	26.09	12	SNP	0.000	G
BRK1	55845	genome.wustl.edu	37	3	10157440	10157440	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr3:10157440C>T	ENST00000530758.1	+	1	165	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	BRK1_ENST00000256463.6_Missense_Mutation_p.R19W	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit	19					actin cytoskeleton organization (GO:0030036)|cell motility (GO:0048870)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|protein homotrimerization (GO:0070207)|Rac protein signal transduction (GO:0016601)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R19W(1)		breast(1)|skin(1)	2						CTGGGCTAACCGGGAGTACAT	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											53.0	58.0	57.0					3																	10157440		1933	4137	6070	-	-	-	SO:0001583	missense	0			AF161418	CCDS54553.1	3p25.3	2011-06-07	2011-06-07	2011-06-07	ENSG00000254999	ENSG00000254999			23057	protein-coding gene	gene with protein product	"""haematopoietic stem/progenitor cell protein 300"", ""BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)"""	611183	"""chromosome 3 open reading frame 10"""	C3orf10		14695531	Standard	NM_018462		Approved	MDS027, HSPC300	uc003bvb.3	Q8WUW1	OTTHUMG00000155400	ENST00000530758.1:c.55C>T	3.37:g.10157440C>T	ENSP00000432472:p.Arg19Trp		B2R5E2|Q9P082	Missense_Mutation	SNP	NULL	p.R19W	ENST00000530758.1	37	c.55	CCDS54553.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692845	0.88735	.	.	ENSG00000254999	ENST00000530758;ENST00000256463	.	.	.	5.14	4.25	0.50352	.	0.000000	0.64402	D	0.000001	T	0.78874	0.4352	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81814	-0.0760	8	0.87932	D	0	.	12.928	0.58270	0.1637:0.8362:0.0:0.0	.	19	Q8WUW1	BRK1_HUMAN	W	19	.	ENSP00000444659:R19W	R	+	1	2	BRK1	10132440	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.403000	0.52615	1.257000	0.44085	0.558000	0.71614	CGG	BRK1	-	NULL	ENSG00000254999		0.627	BRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRK1	HGNC	protein_coding	OTTHUMT00000339900.2	96	0.00	0	C	NM_018462		10157440	10157440	+1	no_errors	ENST00000256463	ensembl	human	known	69_37n	missense	80	20.79	21	SNP	1.000	T
CACNA1H	8912	genome.wustl.edu	37	16	1251909	1251909	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr16:1251909C>T	ENST00000348261.5	+	9	1707	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R487C|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R487C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	487					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.R487C(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAGCCGCTGGCGCAAGAAGGT	0.672																																						dbGAP											2	Substitution - Missense(2)	breast(2)											5.0	7.0	6.0					16																	1251909		1907	3885	5792	-	-	-	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1459C>T	16.37:g.1251909C>T	ENSP00000334198:p.Arg487Cys		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R487C	ENST00000348261.5	37	c.1459	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290482	0.40494	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96967	-4.19;-4.13	3.86	2.91	0.33838	.	0.658041	0.13744	N	0.365773	D	0.93900	0.8048	M	0.65975	2.015	0.33026	D	0.529458	B;B	0.22983	0.078;0.009	B;B	0.18871	0.023;0.003	D	0.92974	0.6400	10	0.62326	D	0.03	.	5.9319	0.19144	0.3069:0.5964:0.0:0.0967	.	487;487	O95180-2;O95180	.;CAC1H_HUMAN	C	487	ENSP00000334198:R487C;ENSP00000351401:R487C	ENSP00000334198:R487C	R	+	1	0	CACNA1H	1191910	0.988000	0.35896	0.988000	0.46212	0.985000	0.73830	0.856000	0.27818	0.831000	0.34780	0.549000	0.68633	CGC	CACNA1H	-	NULL	ENSG00000196557		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	21	0.00	0	C	NM_001005407		1251909	1251909	+1	no_errors	ENST00000348261	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.991	T
DPCR1	135656	genome.wustl.edu	37	6	30918798	30918798	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr6:30918798A>G	ENST00000462446.1	+	2	2585	c.2557A>G	c.(2557-2559)Acc>Gcc	p.T853A	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	297						integral component of membrane (GO:0016021)		p.T853A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAATGAGAAGACCACACCATT	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	75.0	78.0					6																	30918798		692	1591	2283	-	-	-	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2557A>G	6.37:g.30918798A>G	ENSP00000417182:p.Thr853Ala		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.T853A	ENST00000462446.1	37	c.2557	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	a	0.502	-0.870590	0.02570	.	.	ENSG00000168631	ENST00000462446	T	0.49432	0.78	1.12	1.12	0.20585	.	.	.	.	.	T	0.15262	0.0368	L	0.40543	1.245	0.80722	D	1	P	0.49961	0.93	B	0.42214	0.38	T	0.14337	-1.0476	9	0.07990	T	0.79	.	6.4192	0.21734	1.0:0.0:0.0:0.0	.	853	E9PEI6	.	A	853	ENSP00000417182:T853A	ENSP00000417182:T853A	T	+	1	0	DPCR1	31026777	0.000000	0.05858	0.063000	0.19743	0.092000	0.18411	0.472000	0.22116	0.771000	0.33359	0.130000	0.15844	ACC	DPCR1	-	NULL	ENSG00000168631		0.463	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	237	0.00	0	A	NM_080870		30918798	30918798	+1	no_errors	ENST00000462446	ensembl	human	novel	69_37n	missense	202	22.22	58	SNP	0.796	G
EFHC2	80258	genome.wustl.edu	37	X	44101421	44101421	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chrX:44101421T>G	ENST00000420999.1	-	8	1309	c.1226A>C	c.(1225-1227)gAc>gCc	p.D409A		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	409							calcium ion binding (GO:0005509)	p.D409A(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GGGCTTGAGGTCTATGCAGTT	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											132.0	115.0	120.0					X																	44101421		1889	4086	5975	-	-	-	SO:0001583	missense	0			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1226A>C	X.37:g.44101421T>G	ENSP00000404232:p.Asp409Ala		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.D409A	ENST00000420999.1	37	c.1226	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.012|0.012	-1.680312|-1.680312	0.00751|0.00751	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.66099|.	-0.19;-0.19|.	5.9|5.9	0.988|0.988	0.19796|0.19796	.|.	0.489229|.	0.23791|.	N|.	0.044537|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.20046|.	T|.	0.44|.	-1.4933|-1.4933	9.3824|9.3824	0.38322|0.38322	0.0:0.4197:0.4501:0.1302|0.0:0.4197:0.4501:0.1302	.|.	409|.	Q5JST6|.	EFHC2_HUMAN|.	A|S	409;437;213|389	ENSP00000333823:D409A;ENSP00000404232:D437A|.	ENSP00000333823:D409A|.	D|R	-|-	2|3	0|2	EFHC2|EFHC2	43986365|43986365	0.306000|0.306000	0.24490|0.24490	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.629000|1.629000	0.37071|0.37071	-0.229000|-0.229000	0.09854|0.09854	-2.096000|-2.096000	0.00365|0.00365	GAC|AGA	EFHC2	-	NULL	ENSG00000183690		0.433	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	291	0.00	0	T	NM_025184		44101421	44101421	-1	no_errors	ENST00000333807	ensembl	human	known	69_37n	missense	183	22.13	52	SNP	0.000	G
IL17RE	132014	genome.wustl.edu	37	3	9948409	9948409	+	Missense_Mutation	SNP	G	G	C	rs188907497		TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr3:9948409G>C	ENST00000383814.3	+	5	491	c.386G>C	c.(385-387)cGt>cCt	p.R129P	IL17RE_ENST00000295980.3_Missense_Mutation_p.R129P|IL17RE_ENST00000421412.1_Missense_Mutation_p.R162P|IL17RE_ENST00000454190.2_Missense_Mutation_p.R129P	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	129					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R129P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTGCCTCGTCGTCACCTGTCT	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											139.0	135.0	136.0					3																	9948409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.386G>C	3.37:g.9948409G>C	ENSP00000373325:p.Arg129Pro		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	pfam_SEFIR	p.R162P	ENST00000383814.3	37	c.485	CCDS2589.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.335	-0.595810	0.03771	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992;ENST00000441648	T;T;T;T	0.24151	1.92;1.94;1.94;1.87	5.38	1.78	0.24846	.	1.044490	0.07486	N	0.904838	T	0.14270	0.0345	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.003;0.002	T	0.33954	-0.9848	10	0.27785	T	0.31	0.4836	5.4542	0.16582	0.2296:0.1549:0.6155:0.0	.	129;129;129	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	P	162;129;129;129;89;12	ENSP00000404916:R162P;ENSP00000295980:R129P;ENSP00000373325:R129P;ENSP00000388086:R129P	ENSP00000295980:R129P	R	+	2	0	IL17RE	9923409	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.256000	0.18351	0.111000	0.17947	-0.140000	0.14226	CGT	IL17RE	-	NULL	ENSG00000163701		0.537	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	HGNC	protein_coding	OTTHUMT00000250529.1	165	0.60	1	G	NM_153480		9948409	9948409	+1	no_errors	ENST00000421412	ensembl	human	known	69_37n	missense	105	29.05	43	SNP	0.000	C
L3MBTL1	26013	genome.wustl.edu	37	20	42169425	42169425	+	Silent	SNP	T	T	C			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr20:42169425T>C	ENST00000427442.2	+	21	2457	c.2298T>C	c.(2296-2298)tgT>tgC	p.C766C	L3MBTL1_ENST00000373134.1_Silent_p.C703C|L3MBTL1_ENST00000373135.3_Silent_p.C698C|L3MBTL1_ENST00000444063.1_Silent_p.C698C|L3MBTL1_ENST00000418998.1_Silent_p.C766C			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	698					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C766C(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGACAGGTTGTGAGGACCAAG	0.557																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											116.0	83.0	94.0					20																	42169425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2298T>C	20.37:g.42169425T>C			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.C766	ENST00000427442.2	37	c.2298	CCDS46602.2	20																																																																																			L3MBTL1	-	superfamily_SAM/pointed	ENSG00000185513		0.557	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	153	0.00	0	T	NM_032107		42169425	42169425	+1	no_errors	ENST00000418998	ensembl	human	known	69_37n	silent	120	22.08	34	SNP	1.000	C
MTX2	10651	genome.wustl.edu	37	2	177195335	177195335	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr2:177195335C>G	ENST00000249442.6	+	9	778	c.567C>G	c.(565-567)tgC>tgG	p.C189W	MTX2_ENST00000443241.1_Missense_Mutation_p.C133W|MTX2_ENST00000392529.2_Missense_Mutation_p.C179W	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	189					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.C189W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TAGACCAGTGCTGTCAAGCTC	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											234.0	250.0	245.0					2																	177195335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.567C>G	2.37:g.177195335C>G	ENSP00000249442:p.Cys189Trp		A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	pfam_Tom37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.C189W	ENST00000249442.6	37	c.567	CCDS2272.1	2	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505298	0.64410	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.64	5.64	0.86602	Glutathione S-transferase, C-terminal-like (2);	0.125153	0.64402	D	0.000001	T	0.70141	0.3190	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.75780	-0.3197	10	0.66056	D	0.02	-15.7614	13.9459	0.64084	0.0:0.9254:0.0:0.0746	.	189;179	O75431;Q8IZ68	MTX2_HUMAN;.	W	189;179;133;166	ENSP00000249442:C189W;ENSP00000376314:C179W;ENSP00000414176:C133W;ENSP00000398757:C166W	ENSP00000249442:C189W	C	+	3	2	MTX2	176903581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.285000	0.33261	2.643000	0.89663	0.650000	0.86243	TGC	MTX2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000128654		0.338	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTX2	HGNC	protein_coding	OTTHUMT00000255695.4	162	0.00	0	C	NM_006554		177195335	177195335	+1	no_errors	ENST00000249442	ensembl	human	known	69_37n	missense	109	13.49	17	SNP	1.000	G
NPDC1	56654	genome.wustl.edu	37	9	139934483	139934483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr9:139934483delG	ENST00000371601.4	-	8	1038	c.825delC	c.(823-825)tccfs	p.S276fs	NPDC1_ENST00000371600.3_Frame_Shift_Del_p.S354fs|NPDC1_ENST00000488145.1_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	276						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCTCATCCGAGGAGGCCGTGT	0.662																																						dbGAP											0													58.0	56.0	56.0					9																	139934483		2199	4298	6497	-	-	-	SO:0001589	frameshift_variant	0			AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.825delC	9.37:g.139934483delG	ENSP00000360660:p.Ser276fs		Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL	pfam_NPDC1	p.S354fs	ENST00000371601.4	37	c.1059	CCDS7024.1	9																																																																																			NPDC1	-	pfam_NPDC1	ENSG00000107281		0.662	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPDC1	HGNC	protein_coding	OTTHUMT00000055182.1	81	0.00	0	G	NM_015392		139934483	139934483	-1	no_errors	ENST00000371600	ensembl	human	known	69_37n	frame_shift_del	43	10.42	5	DEL	0.020	-
NRF1	4899	genome.wustl.edu	37	7	129350354	129350354	+	Silent	SNP	A	A	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr7:129350354A>G	ENST00000393232.1	+	7	1023	c.906A>G	c.(904-906)ccA>ccG	p.P302P	NRF1_ENST00000223190.4_Silent_p.P302P|NRF1_ENST00000539636.1_Silent_p.P141P|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393231.3_Silent_p.P302P|NRF1_ENST00000393230.2_Silent_p.P302P|NRF1_ENST00000311967.2_Silent_p.P302P	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	302	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P302P(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATCTTGTACCATCACAGACTG	0.473																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											189.0	160.0	170.0					7																	129350354		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.906A>G	7.37:g.129350354A>G			A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd	p.P302	ENST00000393232.1	37	c.906	CCDS5813.2	7																																																																																			NRF1	-	NULL	ENSG00000106459		0.473	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	HGNC	protein_coding	OTTHUMT00000289813.1	176	0.00	0	A	NM_001040110		129350354	129350354	+1	no_errors	ENST00000393231	ensembl	human	known	69_37n	silent	122	27.38	46	SNP	0.997	G
NRXN2	9379	genome.wustl.edu	37	11	64427860	64427860	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr11:64427860G>A	ENST00000377551.1	-	10	2544	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.A771V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A747V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A778V|NRXN2_ENST00000496291.1_5'Flank			Q9P2S2	NRX2A_HUMAN	neurexin 2	778	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A778V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGGGTGTCGGCAGACTCCCT	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	128.0	138.0					11																	64427860		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2333C>T	11.37:g.64427860G>A	ENSP00000366774:p.Ala778Val		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A778V	ENST00000377551.1	37	c.2333	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.146976	0.94603	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38959	U	0.001505	D	0.87958	0.6309	M	0.83692	2.655	0.58432	D	0.999999	D;P;D	0.76494	0.992;0.883;0.999	P;P;D	0.87578	0.829;0.688;0.998	D	0.89021	0.3435	10	0.52906	T	0.07	.	14.2418	0.65961	0.0:0.0:1.0:0.0	.	747;778;524	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	778;747;778;747;771	ENSP00000366774:A778V;ENSP00000366782:A747V;ENSP00000265459:A778V;ENSP00000386416:A771V	ENSP00000265459:A778V	A	-	2	0	NRXN2	64184436	1.000000	0.71417	0.947000	0.38551	0.982000	0.71751	7.794000	0.85869	2.216000	0.71823	0.655000	0.94253	GCC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	146	0.00	0	G	NM_015080		64427860	64427860	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	100	27.86	39	SNP	0.998	A
PHLDB1	23187	genome.wustl.edu	37	11	118498282	118498282	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr11:118498282A>G	ENST00000361417.2	+	7	1154	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.Y248C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	248								p.Y248C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCTCCAGCTATGAGAACACC	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											99.0	106.0	103.0					11																	118498282		2200	4295	6495	-	-	-	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.743A>G	11.37:g.118498282A>G	ENSP00000354498:p.Tyr248Cys		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Y248C	ENST00000361417.2	37	c.743	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052464	0.75960	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000543207;ENST00000356063	T;T	0.37752	1.19;1.18	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.926;0.998;0.995	T	0.58183	-0.7681	10	0.49607	T	0.09	-10.8651	15.5621	0.76256	1.0:0.0:0.0:0.0	.	247;248;248;248	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	C	248;7;247;248	ENSP00000354498:Y248C;ENSP00000348359:Y248C	ENSP00000348359:Y248C	Y	+	2	0	PHLDB1	118003492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.614000	0.90917	2.154000	0.67381	0.460000	0.39030	TAT	PHLDB1	-	NULL	ENSG00000019144		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	69	0.00	0	A	NM_015157		118498282	118498282	+1	no_errors	ENST00000361417	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	G
RAB42	115273	genome.wustl.edu	37	1	28920328	28920328	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr1:28920328C>A	ENST00000373826.3	+	2	323	c.17C>A	c.(16-18)cCg>cAg	p.P6Q	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	6					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.P6Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCAGGGCCCGGACAAGGTC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-	SO:0001583	missense	0			BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.17C>A	1.37:g.28920328C>A	ENSP00000362932:p.Pro6Gln		B2R5G2	Missense_Mutation	SNP	pfam_Small_GTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.P6Q	ENST00000373826.3	37	c.17	CCDS325.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031038	0.35797	.	.	ENSG00000188060	ENST00000373826	T	0.80393	-1.37	5.56	0.484	0.16825	.	0.717906	0.12555	N	0.458663	T	0.78773	0.4336	N	0.16478	0.41	0.38793	D	0.955025	D	0.67145	0.996	D	0.68943	0.961	T	0.76340	-0.2995	10	0.62326	D	0.03	.	9.2291	0.37425	0.0:0.6156:0.0:0.3844	.	6	Q8N4Z0	RAB42_HUMAN	Q	6	ENSP00000362932:P6Q	ENSP00000362932:P6Q	P	+	2	0	RAB42	28792915	0.812000	0.29077	0.316000	0.25252	0.259000	0.26198	2.285000	0.43487	0.309000	0.22966	-0.254000	0.11334	CCG	RAB42	-	smart_Small_GTPase_Rab_type	ENSG00000188060		0.597	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB42	HGNC	protein_coding	OTTHUMT00000010371.1	20	0.00	0	C	NM_152304		28920328	28920328	+1	no_errors	ENST00000373826	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.027	A
SF3B3	23450	genome.wustl.edu	37	16	70595640	70595640	+	Silent	SNP	G	G	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr16:70595640G>T	ENST00000302516.5	+	17	2452	c.2241G>T	c.(2239-2241)tcG>tcT	p.S747S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	747					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.S747S(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTTTTGCCTCGGAACAGTGTC	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											153.0	125.0	134.0					16																	70595640		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2241G>T	16.37:g.70595640G>T			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.S747	ENST00000302516.5	37	c.2241	CCDS10894.1	16																																																																																			SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	111	0.00	0	G	NM_012426		70595640	70595640	+1	no_errors	ENST00000302516	ensembl	human	known	69_37n	silent	81	23.58	25	SNP	0.989	T
SOCS5	9655	genome.wustl.edu	37	2	46985893	46985893	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr2:46985893C>A	ENST00000306503.5	+	2	396	c.224C>A	c.(223-225)tCt>tAt	p.S75Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.S75Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	75					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S75Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TCGAAGAATTCTTCAAGGAGA	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	63.0	63.0					2																	46985893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.224C>A	2.37:g.46985893C>A	ENSP00000305133:p.Ser75Tyr		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S75Y	ENST00000306503.5	37	c.224	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	C	8.477	0.858876	0.17178	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32988	1.43;1.43	5.4	4.52	0.55395	.	0.445884	0.24788	N	0.035587	T	0.19967	0.0480	N	0.14661	0.345	0.35767	D	0.820611	B	0.12013	0.005	B	0.13407	0.009	T	0.12167	-1.0558	10	0.48119	T	0.1	-3.5593	13.0431	0.58910	0.0:0.9211:0.0:0.0789	.	75	O75159	SOCS5_HUMAN	Y	75	ENSP00000305133:S75Y;ENSP00000378330:S75Y	ENSP00000305133:S75Y	S	+	2	0	SOCS5	46839397	0.083000	0.21467	0.997000	0.53966	0.464000	0.32679	3.421000	0.52742	1.480000	0.48289	0.655000	0.94253	TCT	SOCS5	-	NULL	ENSG00000171150		0.388	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	123	0.81	1	C			46985893	46985893	+1	no_errors	ENST00000306503	ensembl	human	known	69_37n	missense	78	30.36	34	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64536255	64536255	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr12:64536255G>C	ENST00000355086.3	+	22	3585	c.3061G>C	c.(3061-3063)Gag>Cag	p.E1021Q	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E998Q|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E958Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1021					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.E1021Q(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGAGCTCCGAGCCTCAGAT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											128.0	102.0	111.0					12																	64536255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3061G>C	12.37:g.64536255G>C	ENSP00000347198:p.Glu1021Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E1021Q	ENST00000355086.3	37	c.3061	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516591	0.64634	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.33654	1.4;1.4;1.4	6.04	6.04	0.98038	.	0.000000	0.35378	U	0.003260	T	0.37320	0.0999	L	0.50333	1.59	0.80722	D	1	B;P	0.42620	0.075;0.785	B;B	0.38194	0.01;0.267	T	0.06373	-1.0830	9	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1021;958	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	Q	1021;998;958	ENSP00000347198:E1021Q;ENSP00000350480:E998Q;ENSP00000437948:E958Q	.	E	+	1	0	SRGAP1	62822522	1.000000	0.71417	0.992000	0.48379	0.022000	0.10575	7.905000	0.87416	2.873000	0.98535	0.563000	0.77884	GAG	SRGAP1	-	NULL	ENSG00000196935		0.567	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	127	0.00	0	G			64536255	64536255	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	74	32.73	36	SNP	1.000	C
TAF4B	6875	genome.wustl.edu	37	18	23847534	23847534	+	Missense_Mutation	SNP	G	G	T	rs567210583		TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr18:23847534G>T	ENST00000269142.5	+	3	1542	c.544G>T	c.(544-546)Gca>Tca	p.A182S	TAF4B_ENST00000400466.2_Missense_Mutation_p.A182S|TAF4B_ENST00000578121.1_Missense_Mutation_p.A182S|RP11-25D3.1_ENST00000580975.1_RNA	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	182					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A182S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TAAAAAATTGGCACAAATAGG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19977	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	104.0	105.0					18																	23847534		1886	4109	5995	-	-	-	SO:0001583	missense	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.544G>T	18.37:g.23847534G>T	ENSP00000269142:p.Ala182Ser		Q29YA4|Q29YA5	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.A182S	ENST00000269142.5	37	c.544	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908571	0.33721	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.21734	1.99;2.0;1.99	5.7	-0.427	0.12310	.	0.683148	0.14467	N	0.317822	T	0.07413	0.0187	N	0.13098	0.295	0.19775	N	0.999959	B;B	0.20459	0.015;0.045	B;B	0.17979	0.011;0.02	T	0.34354	-0.9832	10	0.06625	T	0.88	-3.1601	1.402	0.02273	0.4157:0.1319:0.3003:0.1521	.	182;182	Q92750;A4PBF7	TAF4B_HUMAN;.	S	182	ENSP00000389365:A182S;ENSP00000269142:A182S;ENSP00000383314:A182S	ENSP00000269142:A182S	A	+	1	0	TAF4B	22101532	0.993000	0.37304	0.189000	0.23252	0.972000	0.66771	0.193000	0.17116	-0.155000	0.11098	0.557000	0.71058	GCA	TAF4B	-	NULL	ENSG00000141384		0.428	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	159	0.00	0	G	NM_005640		23847534	23847534	+1	no_errors	ENST00000269142	ensembl	human	known	69_37n	missense	104	14.75	18	SNP	0.231	T
TEX11	56159	genome.wustl.edu	37	X	69890251	69890251	+	Silent	SNP	G	G	A			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chrX:69890251G>A	ENST00000395889.2	-	17	1556	c.1401C>T	c.(1399-1401)taC>taT	p.Y467Y	TEX11_ENST00000344304.3_Silent_p.Y467Y|TEX11_ENST00000374333.2_Silent_p.Y452Y|TEX11_ENST00000374320.2_Silent_p.Y142Y	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	467					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.Y452Y(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GCAAATTCAGGTAACAGCAAG	0.408																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											123.0	100.0	108.0					X																	69890251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1401C>T	X.37:g.69890251G>A			A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.Y467	ENST00000395889.2	37	c.1401	CCDS35323.1	X																																																																																			TEX11	-	smart_TPR_repeat	ENSG00000120498		0.408	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	177	0.00	0	G			69890251	69890251	-1	no_errors	ENST00000344304	ensembl	human	known	69_37n	silent	105	20.45	27	SNP	1.000	A
THSD7A	221981	genome.wustl.edu	37	7	11582644	11582644	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr7:11582644C>G	ENST00000423059.4	-	5	1805	c.1554G>C	c.(1552-1554)tgG>tgC	p.W518C		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	518	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W518C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCAAGCTGACCAAGGTGAAA	0.423										HNSCC(18;0.044)																												dbGAP											1	Substitution - Missense(1)	breast(1)											123.0	119.0	120.0					7																	11582644		1912	4118	6030	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1554G>C	7.37:g.11582644C>G	ENSP00000406482:p.Trp518Cys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W518C	ENST00000423059.4	37	c.1554	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345765	0.82022	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.69435	-0.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92966	0.6393	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	518	Q9UPZ6	THS7A_HUMAN	C	518	ENSP00000406482:W518C	ENSP00000262042:W518C	W	-	3	0	THSD7A	11549169	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.445000	0.80570	2.894000	0.99253	0.591000	0.81541	TGG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.423	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	203	0.49	1	C	XM_928187.2		11582644	11582644	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	136	20.93	36	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	115	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	72	40.00	48	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7579346	7579346	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr17:7579346A>T	ENST00000269305.4	-	4	530	c.341T>A	c.(340-342)tTg>tAg	p.L114*	TP53_ENST00000445888.2_Nonsense_Mutation_p.L114*|TP53_ENST00000359597.4_Nonsense_Mutation_p.L114*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L114*|TP53_ENST00000455263.2_Nonsense_Mutation_p.L114*|TP53_ENST00000420246.2_Nonsense_Mutation_p.L114*|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	114	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.				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.0?(8)|p.L114*(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.F113del(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(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)	CCCAGAATGCAAGAAGCCCAG	0.602		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"""	24	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(4)|Deletion - In frame(4)	breast(5)|upper_aerodigestive_tract(4)|bone(4)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|biliary_tract(1)|liver(1)	GRCh37	CD084237	TP53	D							65.0	61.0	62.0					17																	7579346		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.341T>A	17.37:g.7579346A>T	ENSP00000269305:p.Leu114*		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	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L114*	ENST00000269305.4	37	c.341	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	34	5.340634	0.95783	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	.	0.143532	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4215	7.9714	0.30130	0.8178:0.0:0.0:0.1822	.	.	.	.	X	114	.	ENSP00000269305:L114X	L	-	2	0	TP53	7520071	1.000000	0.71417	0.923000	0.36655	0.947000	0.59692	5.153000	0.64888	2.125000	0.65367	0.533000	0.62120	TTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	49	0.00	0	A	NM_000546		7579346	7579346	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	47	16.07	9	SNP	0.998	T
TNRC6C	57690	genome.wustl.edu	37	17	76083023	76083023	+	Silent	SNP	G	G	A	rs34543719	byFrequency	TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr17:76083023G>A	ENST00000588061.1	+	15	4378	c.3651G>A	c.(3649-3651)ccG>ccA	p.P1217P	TNRC6C_ENST00000335749.4_Silent_p.P1214P|TNRC6C_ENST00000301624.4_Silent_p.P1217P|TNRC6C_ENST00000544502.1_Silent_p.P1214P|TNRC6C_ENST00000588847.1_Silent_p.P1214P|TNRC6C_ENST00000541771.1_Silent_p.P1217P			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1217	Pro-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCCACCACCGCCACCGCCCC	0.672													G|||	26	0.00519169	0.0008	0.0	5008	,	,		11257	0.0		0.0209	False		,,,				2504	0.0041					dbGAP											0													36.0	47.0	43.0					17																	76083023		2099	4217	6316	-	-	-	SO:0001819	synonymous_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3651G>A	17.37:g.76083023G>A			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P1214	ENST00000588061.1	37	c.3642	CCDS45798.1	17																																																																																			TNRC6C	-	NULL	ENSG00000078687		0.672	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	58	0.00	0	G	NM_018996		76083023	76083023	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	silent	62	18.42	14	SNP	0.999	A
VANGL2	57216	genome.wustl.edu	37	1	160389364	160389364	+	Silent	SNP	C	C	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr1:160389364C>T	ENST00000368061.2	+	4	1239	c.765C>T	c.(763-765)gaC>gaT	p.D255D	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	255					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.D255D(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCACCGACGGCGCCAGCC	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											22.0	26.0	25.0					1																	160389364		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.765C>T	1.37:g.160389364C>T			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.D255	ENST00000368061.2	37	c.765	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.627	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	67	0.00	0	C	NM_020335		160389364	160389364	+1	no_errors	ENST00000368061	ensembl	human	known	69_37n	silent	106	16.92	22	SNP	0.799	T
WISP3	8838	genome.wustl.edu	37	6	112382347	112382347	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr6:112382347G>A	ENST00000368666.2	+	2	488	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	WISP3_ENST00000361714.1_Missense_Mutation_p.V86M|WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000368663.3_Missense_Mutation_p.V46M|WISP3_ENST00000604763.1_Missense_Mutation_p.V68M|WISP3_ENST00000230529.5_Missense_Mutation_p.V68M	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	68	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.V86M(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGTGAGCCTGGTGAGAGATGG	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	133.0	137.0					6																	112382347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.202G>A	6.37:g.112382347G>A	ENSP00000357655:p.Val68Met		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.V86M	ENST00000368666.2	37	c.256	CCDS5098.1	6	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699343	0.48307	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	4.62	3.74	0.42951	Insulin-like growth factor-binding protein, IGFBP (3);	0.202148	0.41605	D	0.000844	T	0.73976	0.3656	M	0.84683	2.71	0.39807	D	0.972645	P;D	0.63880	0.763;0.993	B;D	0.65773	0.309;0.938	T	0.80223	-0.1471	10	0.66056	D	0.02	-3.8321	14.8017	0.69922	0.0:0.2728:0.7272:0.0	.	86;68	O95389-2;O95389	.;WISP3_HUMAN	M	68;68;86;68;46	ENSP00000357655:V68M;ENSP00000230529:V68M;ENSP00000354734:V86M;ENSP00000357652:V46M	ENSP00000230529:V68M	V	+	1	0	WISP3	112489040	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.915000	0.56409	1.024000	0.39682	0.563000	0.77884	GTG	WISP3	-	pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN	ENSG00000112761		0.537	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	170	0.00	0	G	NM_003880		112382347	112382347	+1	no_errors	ENST00000361714	ensembl	human	known	69_37n	missense	124	19.48	30	SNP	1.000	A
ZC3H12B	340554	genome.wustl.edu	37	X	64722506	64722506	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chrX:64722506G>T	ENST00000338957.4	+	5	1995	c.1928G>T	c.(1927-1929)gGc>gTc	p.G643V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.G632V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	643							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.G493V(1)|p.G579V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGAGCTATGGCCCAGAGGAT	0.542																																						dbGAP											2	Substitution - Missense(2)	breast(2)											63.0	66.0	65.0					X																	64722506		2008	4148	6156	-	-	-	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1928G>T	X.37:g.64722506G>T	ENSP00000340839:p.Gly643Val		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.G643V	ENST00000338957.4	37	c.1928	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266082	0.59540	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.25912	1.77;1.77	5.1	5.1	0.69264	.	0.157032	0.56097	D	0.000024	T	0.48978	0.1530	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47623	-0.9103	10	0.56958	D	0.05	-21.8127	15.9994	0.80280	0.0:0.0:1.0:0.0	.	632	Q5HYM0	ZC12B_HUMAN	V	643;632;579	ENSP00000340839:G643V;ENSP00000408077:G632V	ENSP00000218172:G579V	G	+	2	0	ZC3H12B	64639231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.075000	0.94004	2.346000	0.79739	0.506000	0.49869	GGC	ZC3H12B	-	NULL	ENSG00000102053		0.542	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	148	0.00	0	G	XM_293334		64722506	64722506	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	missense	95	29.63	40	SNP	1.000	T
ZNF43	7594	genome.wustl.edu	37	19	21991152	21991152	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr19:21991152C>G	ENST00000354959.4	-	4	1856	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	ZNF43_ENST00000595461.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000598381.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000594012.1_Missense_Mutation_p.E557Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E563Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGGGTTTCTCTCCAGTATGA	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											47.0	50.0	49.0					19																	21991152		2186	4285	6471	-	-	-	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1687G>C	19.37:g.21991152C>G	ENSP00000347045:p.Glu563Gln		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E563Q	ENST00000354959.4	37	c.1687	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830510	0.32329	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.25912	1.77	1.76	0.676	0.17958	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	L	0.52905	1.665	0.26406	N	0.976332	D	0.57571	0.98	P	0.60415	0.874	T	0.13899	-1.0492	9	0.56958	D	0.05	.	3.6807	0.08309	0.243:0.5863:0.0:0.1707	.	563	P17038	ZNF43_HUMAN	Q	562;563	ENSP00000347045:E563Q	ENSP00000347045:E563Q	E	-	1	0	ZNF43	21782992	0.001000	0.12720	0.325000	0.25375	0.976000	0.68499	0.966000	0.29331	0.976000	0.38417	0.305000	0.20034	GAG	ZNF43	-	pfscan_Znf_C2H2	ENSG00000198521		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	76	0.00	0	C	NM_003423		21991152	21991152	-1	no_errors	ENST00000354959	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	0.997	G
ZNF512	84450	genome.wustl.edu	37	2	27825429	27825429	+	Splice_Site	SNP	G	G	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr2:27825429G>T	ENST00000355467.4	+	8	851		c.e8+1		ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CATGCGTGAGGTAAGGGCCCA	0.468																																						dbGAP											1	Unknown(1)	breast(1)											79.0	70.0	73.0					2																	27825429		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.768+1G>T	2.37:g.27825429G>T			B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Splice_Site	SNP	-	e8+1	ENST00000355467.4	37	c.768+1	CCDS1758.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615582	0.87359	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1412	0.86754	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF512	27678933	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.102000	0.89548	2.832000	0.97577	0.655000	0.94253	.	ZNF512	-	-	ENSG00000243943		0.468	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	131	0.00	0	G	NM_032434	Intron	27825429	27825429	+1	no_errors	ENST00000355467	ensembl	human	known	69_37n	splice_site	93	16.96	19	SNP	1.000	T
ZNRF3	84133	genome.wustl.edu	37	22	29445235	29445235	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WX-01A-11D-A10G-09	TCGA-B6-A0WX-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	47b5d831-5287-4f62-b17a-6e5eff2e4184	57c92229-f196-429c-8c85-874e2906a3d4	g.chr22:29445235C>T	ENST00000544604.2	+	8	1241	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R256C|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R256C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R256C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	356					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R256C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAACCTCTCACGTGGTCGGCA	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	80.0	77.0					22																	29445235		2139	4227	6366	-	-	-	SO:0001583	missense	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1066C>T	22.37:g.29445235C>T	ENSP00000443824:p.Arg356Cys		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R356C	ENST00000544604.2	37	c.1066	CCDS56225.1	22	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957210	0.53293	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.58	4.54	0.55810	.	0.235334	0.44097	D	0.000489	D	0.87861	0.6284	M	0.73598	2.24	0.45899	D	0.99874	D	0.89917	1.0	D	0.63192	0.912	D	0.88874	0.3335	10	0.59425	D	0.04	0.0049	14.6757	0.68978	0.1463:0.8537:0.0:0.0	.	356	Q9ULT6	ZNRF3_HUMAN	C	356;256;63;256;256	ENSP00000443824:R356C;ENSP00000328614:R256C;ENSP00000384456:R256C;ENSP00000384553:R256C	ENSP00000328614:R256C	R	+	1	0	ZNRF3	27775235	1.000000	0.71417	0.011000	0.14972	0.503000	0.33858	5.457000	0.66672	1.312000	0.45043	0.655000	0.94253	CGT	ZNRF3	-	NULL	ENSG00000183579		0.602	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	52	0.00	0	C	XM_290972		29445235	29445235	+1	no_errors	ENST00000544604	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	0.619	T
