#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
ANKRD20A4	728747	genome.wustl.edu	37	9	69421983	69421983	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr9:69421983G>C	ENST00000357336.3	+	14	1728	c.1447G>C	c.(1447-1449)Gtt>Ctt	p.V483L		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	483										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TGAACCAACTGTTCAGTCACT	0.279																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1447G>C	9.37:g.69421983G>C	ENSP00000349891:p.Val483Leu			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V483L	ENST00000357336.3	37	c.1447	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.106205	0.00356	.	.	ENSG00000172014	ENST00000357336	T	0.14144	2.53	2.26	1.3	0.21679	.	.	.	.	.	T	0.05273	0.0140	N	0.12527	0.23	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43376	-0.9395	9	0.02654	T	1	.	4.462	0.11671	0.2504:0.49:0.2596:0.0	.	483	Q4UJ75	A20A4_HUMAN	L	483	ENSP00000349891:V483L	ENSP00000349891:V483L	V	+	1	0	ANKRD20A4	68711803	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.043000	0.12043	0.254000	0.21573	0.184000	0.17185	GTT	ANKRD20A4	-	NULL	ENSG00000172014		0.279	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	15	0.00	0	G	NM_001098805		69421983	69421983	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	missense	8	27.27	3	SNP	0.004	C
COMMD9	29099	genome.wustl.edu	37	11	36300038	36300038	+	Silent	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr11:36300038G>A	ENST00000263401.5	-	3	322	c.306C>T	c.(304-306)atC>atT	p.I102I	COMMD9_ENST00000532705.1_Silent_p.I102I|COMMD9_ENST00000452374.2_Silent_p.I60I	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	102										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CATGTTCTAGGATGATCTTTG	0.393																																						dbGAP											0													125.0	124.0	124.0					11																	36300038		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.306C>T	11.37:g.36300038G>A			E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	pfam_HCaRG	p.I102	ENST00000263401.5	37	c.306	CCDS7900.1	11																																																																																			COMMD9	-	pfam_HCaRG	ENSG00000110442		0.393	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	HGNC	protein_coding	OTTHUMT00000389196.1	137	0.00	0	G	NM_014186		36300038	36300038	-1	no_errors	ENST00000263401	ensembl	human	known	69_37n	silent	75	31.19	34	SNP	1.000	A
CTCF	10664	genome.wustl.edu	37	16	67645418	67645418	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr16:67645418T>C	ENST00000264010.4	+	3	1127	c.683T>C	c.(682-684)tTt>tCt	p.F228S	CTCF_ENST00000401394.1_Intron|AC009095.4_ENST00000388909.4_RNA	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	228					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTCTACGATTTTGAGGAAGAA	0.413																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0													104.0	106.0	106.0					16																	67645418		2198	4299	6497	-	-	-	SO:0001583	missense	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.683T>C	16.37:g.67645418T>C	ENSP00000264010:p.Phe228Ser		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F228S	ENST00000264010.4	37	c.683	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211044	0.79240	.	.	ENSG00000102974	ENST00000264010	T	0.08896	3.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.16727	0.0402	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.04165	-1.0972	10	0.54805	T	0.06	-2.2116	15.7759	0.78214	0.0:0.0:0.0:1.0	.	228	P49711	CTCF_HUMAN	S	228	ENSP00000264010:F228S	ENSP00000264010:F228S	F	+	2	0	CTCF	66202919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.669000	0.83911	2.308000	0.77769	0.533000	0.62120	TTT	CTCF	-	NULL	ENSG00000102974		0.413	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	84	0.00	0	T	NM_006565		67645418	67645418	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	missense	32	39.62	21	SNP	1.000	C
CTNNA2	1496	genome.wustl.edu	37	2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A	rs529691509		TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438																																						dbGAP											2	Substitution - Missense(2)	skin(2)											130.0	129.0	129.0					2																	80874927		1848	4090	5938	-	-	-	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2792G>A	2.37:g.80874927G>A	ENSP00000384638:p.Arg931Gln		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R917Q	ENST00000402739.4	37	c.2750		2	.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	CTNNA2	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA	CTNNA2	-	NULL	ENSG00000066032		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	63	0.00	0	G	NM_004389		80874927	80874927	+1	no_errors	ENST00000361291	ensembl	human	known	69_37n	missense	33	32.65	16	SNP	1.000	A
CYP4F11	57834	genome.wustl.edu	37	19	16040359	16040359	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr19:16040359T>C	ENST00000402119.4	-	2	677	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	CYP4F11_ENST00000248041.8_Missense_Mutation_p.Y84C|CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000326742.8_Missense_Mutation_p.Y84C	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCCCTGGGGATATGTGGTCAC	0.542																																						dbGAP											0													166.0	165.0	165.0					19																	16040359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.251A>G	19.37:g.16040359T>C	ENSP00000384588:p.Tyr84Cys			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Y84C	ENST00000402119.4	37	c.251	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	t	8.883	0.952041	0.18431	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.95949	-3.86;-3.86;-3.86	3.13	-2.95	0.05564	.	0.441160	0.20017	U	0.100997	D	0.92456	0.7605	M	0.70903	2.155	0.09310	N	1	B;B	0.23735	0.09;0.036	B;B	0.33454	0.137;0.164	D	0.85335	0.1092	10	0.62326	D	0.03	.	3.0827	0.06267	0.3275:0.2304:0.0:0.4421	.	84;84	F8W978;Q9HBI6	.;CP4FB_HUMAN	C	84	ENSP00000384588:Y84C;ENSP00000248041:Y84C;ENSP00000319859:Y84C	ENSP00000248041:Y84C	Y	-	2	0	CYP4F11	15901359	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.534000	0.06150	-0.471000	0.06891	0.260000	0.18958	TAT	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171903		0.542	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	121	0.00	0	T	NM_021187		16040359	16040359	-1	no_errors	ENST00000248041	ensembl	human	known	69_37n	missense	50	10.53	6	SNP	0.000	C
DCBLD1	285761	genome.wustl.edu	37	6	117861948	117861948	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr6:117861948G>A	ENST00000338728.5	+	10	1339	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.V407M|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	407	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGCCTTGAAGGTGGAGCTCAT	0.488																																						dbGAP											0													120.0	118.0	119.0					6																	117861948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1219G>A	6.37:g.117861948G>A	ENSP00000342422:p.Val407Met		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.V407M	ENST00000338728.5	37	c.1219		6	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502011	0.44455	.	.	ENSG00000164465	ENST00000296955;ENST00000392504;ENST00000338728	D;D	0.98221	-4.8;-4.8	4.45	4.45	0.53987	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.158684	0.39834	N	0.001259	D	0.97056	0.9038	L	0.38175	1.15	0.80722	D	1	B;D	0.64830	0.389;0.994	B;D	0.66497	0.39;0.944	D	0.95730	0.8774	10	0.20519	T	0.43	-17.2889	14.1197	0.65180	0.0:0.1628:0.8372:0.0	.	407;407	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	M	407;62;407	ENSP00000296955:V407M;ENSP00000342422:V407M	ENSP00000296955:V407M	V	+	1	0	DCBLD1	117968641	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.744000	0.38268	2.307000	0.77673	0.561000	0.74099	GTG	DCBLD1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164465		0.488	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	DCBLD1	HGNC	protein_coding	OTTHUMT00000041979.2	77	0.00	0	G	NM_173674		117861948	117861948	+1	no_errors	ENST00000338728	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	1.000	A
DNAH12	201625	genome.wustl.edu	37	3	57357142	57357142	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr3:57357142G>C	ENST00000351747.2	-	49	7852	c.7672C>G	c.(7672-7674)Ctt>Gtt	p.L2558V	DNAH12_ENST00000344804.4_Missense_Mutation_p.L191V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2558	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GACACTGCAAGATGGCAATTC	0.433																																						dbGAP											0													181.0	158.0	165.0					3																	57357142		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.7672C>G	3.37:g.57357142G>C	ENSP00000295937:p.Leu2558Val		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2558V	ENST00000351747.2	37	c.7672		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.039364|4.039364	0.75617|0.75617	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000351747;ENST00000466540;ENST00000344804|ENST00000462199	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Dynein heavy chain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79353|0.79353	0.4431|0.4431	M|M	0.92784|0.92784	3.345|3.345	0.32018|0.32018	N|N	0.601111|0.601111	D;D|.	0.69078|.	0.994;0.997|.	D;D|.	0.76575|.	0.965;0.988|.	D|D	0.85440|0.85440	0.1154|0.1154	10|5	0.59425|.	D|.	0.04|.	.|.	14.0445|14.0445	0.64698|0.64698	0.0773:0.0:0.9227:0.0|0.0773:0.0:0.9227:0.0	.|.	191;2558|.	Q6ZR08-2;Q6ZR08|.	.;DYH12_HUMAN|.	V|C	2558;249;191|248	ENSP00000295937:L2558V;ENSP00000420359:L249V;ENSP00000340464:L191V|.	ENSP00000340464:L191V|.	L|S	-|-	1|2	0|0	DNAH12|DNAH12	57332182|57332182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.484000|5.484000	0.66844|0.66844	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	CTT|TCT	DNAH12	-	pfam_Dynein_heavy	ENSG00000174844		0.433	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		194	0.00	0	G	NM_178504		57357142	57357142	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	1.000	C
DOCK11	139818	genome.wustl.edu	37	X	117785950	117785950	+	Silent	SNP	G	G	C			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chrX:117785950G>C	ENST00000276202.7	+	42	4668	c.4605G>C	c.(4603-4605)ctG>ctC	p.L1535L	DOCK11_ENST00000276204.6_Silent_p.L1535L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1535					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAAGCCAACTGATAGCTGATG	0.323																																						dbGAP											0													105.0	106.0	106.0					X																	117785950		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4605G>C	X.37:g.117785950G>C			A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1535	ENST00000276202.7	37	c.4605	CCDS35373.1	X																																																																																			DOCK11	-	NULL	ENSG00000147251		0.323	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	89	0.00	0	G	NM_144658		117785950	117785950	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	silent	73	24.74	24	SNP	1.000	C
EGR1	1958	genome.wustl.edu	37	5	137803326	137803326	+	Silent	SNP	C	C	T			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr5:137803326C>T	ENST00000239938.4	+	2	1460	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	396					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAAAGCCCTTCGCCTGCGACA	0.572																																						dbGAP											0													85.0	85.0	85.0					5																	137803326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1188C>T	5.37:g.137803326C>T				Silent	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F396	ENST00000239938.4	37	c.1188	CCDS4206.1	5																																																																																			EGR1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120738		0.572	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	82	0.00	0	C	NM_001964		137803326	137803326	+1	no_errors	ENST00000239938	ensembl	human	known	69_37n	silent	24	27.27	9	SNP	0.930	T
FLRT2	23768	genome.wustl.edu	37	14	86088051	86088051	+	Missense_Mutation	SNP	G	G	A	rs200776611		TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr14:86088051G>A	ENST00000330753.4	+	2	960	c.193G>A	c.(193-195)Gta>Ata	p.V65I	FLRT2_ENST00000554746.1_Missense_Mutation_p.V65I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	65					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCCGGAGGGCGTAACTGTACT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17277	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													138.0	124.0	129.0					14																	86088051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.193G>A	14.37:g.86088051G>A	ENSP00000332879:p.Val65Ile		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.V65I	ENST00000330753.4	37	c.193	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561894	0.65538	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02656	4.21;4.21	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (1);	0.143069	0.49305	D	0.000148	T	0.01765	0.0056	N	0.08118	0	0.33168	D	0.547877	P	0.39665	0.682	B	0.20955	0.032	T	0.57545	-0.7793	10	0.20519	T	0.43	-9.4898	19.9036	0.96999	0.0:0.0:1.0:0.0	.	65	O43155	FLRT2_HUMAN	I	65	ENSP00000332879:V65I;ENSP00000451050:V65I	ENSP00000332879:V65I	V	+	1	0	FLRT2	85157804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.870000	0.63035	2.706000	0.92434	0.655000	0.94253	GTA	FLRT2	-	smart_LRR-contain_N	ENSG00000185070		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	103	0.00	0	G			86088051	86088051	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	A
HIVEP3	59269	genome.wustl.edu	37	1	42049238	42049238	+	Missense_Mutation	SNP	C	C	T	rs199796046		TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr1:42049238C>T	ENST00000372583.1	-	4	2116	c.1231G>A	c.(1231-1233)Gcc>Acc	p.A411T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A411T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A411T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A411T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	411	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAGGACTTGGCGTTGGTGTTT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17888	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													119.0	105.0	110.0					1																	42049238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1231G>A	1.37:g.42049238C>T	ENSP00000361664:p.Ala411Thr		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A411T	ENST00000372583.1	37	c.1231	CCDS463.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.03	2.414857	0.42817	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.15	4.24	0.50183	.	0.257280	0.27764	N	0.017956	T	0.37156	0.0993	M	0.64997	1.995	0.47308	D	0.99938	D;D	0.89917	1.0;1.0	D;P	0.65233	0.933;0.859	T	0.23762	-1.0179	10	0.72032	D	0.01	-19.5234	14.8943	0.70633	0.1444:0.8556:0.0:0.0	.	411;411	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	411	ENSP00000361665:A411T;ENSP00000361664:A411T;ENSP00000247584:A411T;ENSP00000410828:A411T	ENSP00000247584:A411T	A	-	1	0	HIVEP3	41821825	1.000000	0.71417	0.905000	0.35620	0.000000	0.00434	7.651000	0.83577	1.400000	0.46741	-0.169000	0.13324	GCC	HIVEP3	-	NULL	ENSG00000127124		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	136	0.00	0	C	NM_024503		42049238	42049238	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	1.000	T
LDOC1	23641	genome.wustl.edu	37	X	140270877	140270877	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chrX:140270877C>T	ENST00000370526.2	-	1	433	c.330G>A	c.(328-330)atG>atA	p.M110I	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	110					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TGGGGCTATCCATCTCGATGT	0.562																																						dbGAP											0													156.0	117.0	130.0					X																	140270877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.330G>A	X.37:g.140270877C>T	ENSP00000359557:p.Met110Ile		Q6IAR6	Missense_Mutation	SNP	NULL	p.M110I	ENST00000370526.2	37	c.330	CCDS14672.1	X	.	.	.	.	.	.	.	.	.	.	.	12.36	1.915777	0.33815	.	.	ENSG00000182195	ENST00000370526	T	0.27557	1.66	3.67	0.807	0.18714	.	0.768350	0.11709	N	0.537117	T	0.10508	0.0257	N	0.01874	-0.695	0.21861	N	0.999508	B	0.13594	0.008	B	0.06405	0.002	T	0.26950	-1.0088	10	0.35671	T	0.21	-0.1444	5.0966	0.14737	0.0:0.4618:0.4124:0.1259	.	110	O95751	LDOC1_HUMAN	I	110	ENSP00000359557:M110I	ENSP00000359557:M110I	M	-	3	0	LDOC1	140098543	0.974000	0.33945	0.930000	0.37139	0.978000	0.69477	0.221000	0.17680	0.044000	0.15775	0.287000	0.19450	ATG	LDOC1	-	NULL	ENSG00000182195		0.562	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDOC1	HGNC	protein_coding	OTTHUMT00000058592.1	113	0.00	0	C	NM_012317		140270877	140270877	-1	no_errors	ENST00000370526	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.927	T
METTL21C	196541	genome.wustl.edu	37	13	103343304	103343304	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr13:103343304C>G	ENST00000267273.6	-	2	146	c.141G>C	c.(139-141)aaG>aaC	p.K47N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	47					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGGTTCTATCTTGTTGGATT	0.393																																						dbGAP											0													126.0	121.0	122.0					13																	103343304		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.141G>C	13.37:g.103343304C>G	ENSP00000267273:p.Lys47Asn			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.K47N	ENST00000267273.6	37	c.141	CCDS32003.1	13	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868050	0.17250	.	.	ENSG00000139780	ENST00000267273	T	0.14893	2.47	6.16	-1.61	0.08399	.	2.137960	0.01391	N	0.013259	T	0.10981	0.0268	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23976	-1.0173	10	0.25751	T	0.34	-9.0953	5.6006	0.17351	0.1171:0.2176:0.5193:0.146	.	47	Q5VZV1	MT21C_HUMAN	N	47	ENSP00000267273:K47N	ENSP00000267273:K47N	K	-	3	2	METTL21C	102141305	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.722000	0.04958	-0.067000	0.12976	-0.145000	0.13849	AAG	METTL21C	-	NULL	ENSG00000139780		0.393	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21C	HGNC	protein_coding	OTTHUMT00000045682.2	153	0.00	0	C	NM_001010977		103343304	103343304	-1	no_errors	ENST00000267273	ensembl	human	known	69_37n	missense	91	14.81	16	SNP	0.000	G
OSBPL1A	114876	genome.wustl.edu	37	18	21894248	21894248	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr18:21894248G>A	ENST00000319481.3	-	12	1140	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	312	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTAGGAACCCGGAAGCCATGA	0.363																																						dbGAP											0													101.0	101.0	101.0					18																	21894248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.934C>T	18.37:g.21894248G>A	ENSP00000320291:p.Arg312Trp		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.R312W	ENST00000319481.3	37	c.934	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839867	0.51057	.	.	ENSG00000141447	ENST00000319481	T	0.48836	0.8	5.7	-2.08	0.07254	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.147718	0.64402	D	0.000017	T	0.58921	0.2156	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59424	0.857;0.727	T	0.63681	-0.6582	10	0.37606	T	0.19	-21.1619	17.1959	0.86892	0.0:0.0:0.6451:0.3549	.	312;312	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	W	312	ENSP00000320291:R312W	ENSP00000320291:R312W	R	-	1	2	OSBPL1A	20148246	1.000000	0.71417	0.976000	0.42696	0.189000	0.23516	1.587000	0.36622	-0.223000	0.09943	-0.302000	0.09304	CGG	OSBPL1A	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141447		0.363	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	88	0.00	0	G	NM_080597		21894248	21894248	-1	no_errors	ENST00000319481	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	0.997	A
PFKM	5213	genome.wustl.edu	37	12	48538878	48538878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr12:48538878G>A	ENST00000312352.7	+	21	2096	c.2057G>A	c.(2056-2058)tGg>tAg	p.W686*	PFKM_ENST00000551804.1_Nonsense_Mutation_p.W655*|PFKM_ENST00000340802.6_Nonsense_Mutation_p.W757*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.W655*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.W686*|PFKM_ENST00000359794.5_Nonsense_Mutation_p.W686*	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	686	C-terminal regulatory PFK domain 2.		W -> C (in GSD7; Japanese). {ECO:0000269|PubMed:8889589}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.W757L(1)|p.W686L(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCTATGAACTGGATGTCTGGG	0.493																																						dbGAP											2	Substitution - Missense(2)	lung(2)											113.0	107.0	109.0					12																	48538878		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2057G>A	12.37:g.48538878G>A	ENSP00000309438:p.Trp686*		J3KNX3|Q16814|Q16815|Q6ZTT1	Nonsense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.W686*	ENST00000312352.7	37	c.2057	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.626661	0.98396	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9437	18.5901	0.91208	0.0:0.0:1.0:0.0	.	.	.	.	X	757;686;655;655;686;686	.	ENSP00000309438:W686X	W	+	2	0	PFKM	46825145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.793000	0.96121	0.655000	0.94253	TGG	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.493	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	161	0.00	0	G	NM_000289		48538878	48538878	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	nonsense	73	25.51	25	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	108	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	73	24.74	24	SNP	1.000	A
PZP	5858	genome.wustl.edu	37	12	9346694	9346694	+	Silent	SNP	C	C	T			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr12:9346694C>T	ENST00000261336.2	-	11	1261	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S	PZP_ENST00000381997.2_Silent_p.S280S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	411					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTTTATTAACCGAGATACTGG	0.373																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0													121.0	121.0	121.0					12																	9346694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1233G>A	12.37:g.9346694C>T			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S411	ENST00000261336.2	37	c.1233	CCDS8600.1	12																																																																																			PZP	-	NULL	ENSG00000126838		0.373	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	136	0.00	0	C	NM_002864		9346694	9346694	-1	no_errors	ENST00000261336	ensembl	human	known	69_37n	silent	98	14.78	17	SNP	0.001	T
RPS4XP21	126235	genome.wustl.edu	37	19	34583729	34583729	+	IGR	SNP	A	A	G	rs61743238	byFrequency	TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr19:34583729A>G								RN7SL150P (165199 upstream) : LSM14A (79700 downstream)																							CCAGTCTCCAAATCAATCTGA	0.478													A|||	93	0.0185703	0.0045	0.0259	5008	,	,		20930	0.0		0.0467	False		,,,				2504	0.0225					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															19.37:g.34583729A>G				Silent	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pirsf_Ribosomal_S4e	p.L174		37	c.520		19																																																																																			RPS4XP21	-	pfam_Ribosomal_S4e_central,pirsf_Ribosomal_S4e	ENSG00000186008	0	0.478					RPS4XP21	HGNC			8	0.00	0	A			34583729	34583729	-1	no_errors	ENST00000469064	ensembl	human	putative	69_37n	silent	4	55.56	5	SNP	1.000	G
SDF4	51150	genome.wustl.edu	37	1	1163972	1163972	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr1:1163972C>T	ENST00000360001.6	-	2	464	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.E68K|SDF4_ENST00000263741.7_Missense_Mutation_p.E68K			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	68					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCATCTCCAGCTTCACC	0.637																																						dbGAP											0													122.0	94.0	103.0					1																	1163972		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.202G>A	1.37:g.1163972C>T	ENSP00000353094:p.Glu68Lys		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E68K	ENST00000360001.6	37	c.202	CCDS30553.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016110|4.016110	0.75161|0.75161	.|.	.|.	ENSG00000078808|ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427|ENST00000403997	T;T;T|.	0.08193|.	3.12;3.12;3.12|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.986;0.994|.	P;P|.	0.58721|.	0.844;0.833|.	T|T	0.74722|0.74722	-0.3569|-0.3569	10|5	0.56958|.	D|.	0.05|.	-31.5095|-31.5095	15.6133|15.6133	0.76744|0.76744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	68;68|.	Q9BRK5-6;Q9BRK5|.	.;CAB45_HUMAN|.	K|E	68|2	ENSP00000353094:E68K;ENSP00000263741:E68K;ENSP00000444451:E68K|.	ENSP00000263741:E68K|.	E|G	-|-	1|2	0|0	SDF4|SDF4	1153835|1153835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.269000|0.269000	0.26545|0.26545	6.813000|6.813000	0.75231|0.75231	1.904000|1.904000	0.55121|0.55121	0.511000|0.511000	0.50034|0.50034	GAG|GGA	SDF4	-	NULL	ENSG00000078808		0.637	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDF4	HGNC	protein_coding	OTTHUMT00000005064.1	41	0.00	0	C	NM_016176		1163972	1163972	-1	no_errors	ENST00000360001	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	T
ST18	9705	genome.wustl.edu	37	8	53074080	53074080	+	Silent	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr8:53074080G>A	ENST00000276480.7	-	14	2132	c.1449C>T	c.(1447-1449)atC>atT	p.I483I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	483					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGAGAGGTGATGGCTTGTG	0.433																																						dbGAP											0													157.0	147.0	150.0					8																	53074080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1449C>T	8.37:g.53074080G>A			Q17RY1	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.I483	ENST00000276480.7	37	c.1449	CCDS6149.1	8																																																																																			ST18	-	pfam_Myelin_TF	ENSG00000147488		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	220	0.00	0	G			53074080	53074080	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	silent	157	14.13	26	SNP	1.000	A
ST6GALNAC3	256435	genome.wustl.edu	37	1	76877751	76877751	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr1:76877751G>A	ENST00000328299.3	+	3	420	c.272G>A	c.(271-273)gGc>gAc	p.G91D	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	91					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CAGATGGTTGGCCAGAAGGTG	0.448																																						dbGAP											0													114.0	100.0	105.0					1																	76877751		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.272G>A	1.37:g.76877751G>A	ENSP00000329214:p.Gly91Asp		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.G91D	ENST00000328299.3	37	c.272	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679918	0.88542	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.32988	1.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.64997	1.995	0.80722	D	1	D;P;D	0.59767	0.986;0.942;0.977	D;P;P	0.68039	0.955;0.612;0.787	T	0.33803	-0.9854	10	0.62326	D	0.03	-19.0198	19.8676	0.96824	0.0:0.0:1.0:0.0	.	26;91;91	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	D	91;91;90;25	ENSP00000329214:G91D	ENSP00000329214:G91D	G	+	2	0	ST6GALNAC3	76650339	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.378000	0.73150	2.941000	0.99782	0.655000	0.94253	GGC	ST6GALNAC3	-	pfam_Glyco_trans_29	ENSG00000184005		0.448	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	115	0.00	0	G	NM_152996		76877751	76877751	+1	no_errors	ENST00000328299	ensembl	human	known	69_37n	missense	52	24.29	17	SNP	1.000	A
THOC2	57187	genome.wustl.edu	37	X	122840715	122840715	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chrX:122840715T>A	ENST00000245838.8	-	3	246	c.215A>T	c.(214-216)gAc>gTc	p.D72V	THOC2_ENST00000355725.4_Missense_Mutation_p.D72V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	72					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACACTAATGTCACTAAGAAC	0.284																																						dbGAP											0													57.0	45.0	49.0					X																	122840715		1791	4032	5823	-	-	-	SO:0001583	missense	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.215A>T	X.37:g.122840715T>A	ENSP00000245838:p.Asp72Val		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.D72V	ENST00000245838.8	37	c.215	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678856	0.68042	.	.	ENSG00000125676	ENST00000245838;ENST00000355725	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	T	0.61825	0.2378	M	0.67397	2.05	0.80722	D	1	B	0.18310	0.027	B	0.21546	0.035	T	0.59847	-0.7377	8	0.42905	T	0.14	-6.015	14.0373	0.64654	0.0:0.0:0.0:1.0	.	72	Q8NI27	THOC2_HUMAN	V	72	.	ENSP00000245838:D72V	D	-	2	0	THOC2	122668396	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.705000	0.68355	1.772000	0.52199	0.417000	0.27973	GAC	THOC2	-	NULL	ENSG00000125676		0.284	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	114	0.00	0	T			122840715	122840715	-1	no_errors	ENST00000245838	ensembl	human	known	69_37n	missense	84	24.11	27	SNP	1.000	A
STAG2	10735	genome.wustl.edu	37	X	123181291	123181291	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chrX:123181291G>A	ENST00000371160.1	+	9	1045	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	STAG2_ENST00000218089.9_Missense_Mutation_p.R252Q|STAG2_ENST00000371157.3_Missense_Mutation_p.R252Q|STAG2_ENST00000371144.3_Missense_Mutation_p.R252Q|STAG2_ENST00000371145.3_Missense_Mutation_p.R252Q|STAG2_ENST00000354548.5_Missense_Mutation_p.R183Q|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	252					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R252Q(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAAGCAGAACGGAATAAAATG	0.343																																						dbGAP											1	Substitution - Missense(1)	skin(1)											84.0	82.0	83.0					X																	123181291		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.755G>A	X.37:g.123181291G>A	ENSP00000360202:p.Arg252Gln		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R252Q	ENST00000371160.1	37	c.755	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.565691	0.96540	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.69	5.69	0.88448	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.79108	0.637;0.992	T	0.65969	-0.6039	10	0.44086	T	0.13	-6.3997	18.7292	0.91728	0.0:0.0:1.0:0.0	.	252;252	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	252;252;183;252;252;252;252	ENSP00000218089:R252Q;ENSP00000397265:R252Q;ENSP00000346555:R183Q;ENSP00000360202:R252Q;ENSP00000360199:R252Q;ENSP00000360187:R252Q;ENSP00000360186:R252Q	ENSP00000218089:R252Q	R	+	2	0	STAG2	123008972	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.025000	0.88777	2.367000	0.80283	0.600000	0.82982	CGG	STAG2	-	pfam_STAG,superfamily_ARM-type_fold	ENSG00000101972		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	79	0.00	0	G	NM_006603		123181291	123181291	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	A
TMPRSS4	56649	genome.wustl.edu	37	11	117982545	117982545	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr11:117982545G>A	ENST00000437212.3	+	8	887	c.673G>A	c.(673-675)Gac>Aac	p.D225N	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.D220N|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.D78N|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.D223N|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.D185N			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	225	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CATCCAGTACGACAAACAGCA	0.617																																						dbGAP											0													119.0	99.0	106.0					11																	117982545		2200	4296	6496	-	-	-	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.673G>A	11.37:g.117982545G>A	ENSP00000416037:p.Asp225Asn		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D225N	ENST00000437212.3	37	c.673	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.129561	0.01756	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	D;D;D;D;D;T	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;0.28	4.7	-7.56	0.01322	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.187640	0.05940	N	0.636763	T	0.71074	0.3297	N	0.10707	0.03	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.001	T	0.59558	-0.7432	10	0.14252	T	0.57	.	7.5403	0.27733	0.6939:0.1425:0.1636:0.0	.	200;185;78;225;223	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	N	223;78;185;225;220;172	ENSP00000435184:D223N;ENSP00000428814:D78N;ENSP00000429209:D185N;ENSP00000416037:D225N;ENSP00000430547:D220N;ENSP00000428407:D172N	ENSP00000416037:D225N	D	+	1	0	TMPRSS4	117487755	0.000000	0.05858	0.050000	0.19076	0.083000	0.17756	-0.183000	0.09712	-0.652000	0.05408	-0.192000	0.12808	GAC	TMPRSS4	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000137648		0.617	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	73	0.00	0	G	NM_019894		117982545	117982545	+1	no_errors	ENST00000437212	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.063	A
TTN	7273	genome.wustl.edu	37	2	179615666	179615666	+	Intron	SNP	C	C	T			TCGA-E9-A1R0-01A-22D-A16D-09	TCGA-E9-A1R0-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c09eaa03-c14c-4a96-a505-4d999e45270e	ff0a6768-52d3-43fb-a32f-af125579a86c	g.chr2:179615666C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3821N|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D3821Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAAATGGTCTTTTGGTAGA	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	114.0	111.0					2																	179615666		2201	4296	6497	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2184G>A	2.37:g.179615666C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D3821N	ENST00000591111.1	37	c.11461		2	.	.	.	.	.	.	.	.	.	.	C	32	5.158576	0.94686	.	.	ENSG00000155657	ENST00000360870	T	0.60548	0.18	5.25	5.25	0.73442	.	.	.	.	.	T	0.38558	0.1045	N	0.14661	0.345	0.58432	D	0.999998	B	0.12630	0.006	B	0.17098	0.017	T	0.21381	-1.0247	9	0.17369	T	0.5	.	12.1667	0.54133	0.0:0.9165:0.0:0.0835	.	3821	Q8WZ42-6	.	N	3821	ENSP00000354117:D3821N	ENSP00000354117:D3821N	D	-	1	0	TTN	179323911	0.119000	0.22226	0.012000	0.15200	0.849000	0.48306	2.393000	0.44442	2.610000	0.88304	0.655000	0.94253	GAC	TTN	-	NULL	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	89	0.00	0	C	NM_133378		179615666	179615666	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	72	24.21	23	SNP	0.116	T
