#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
C4BPA	722	genome.wustl.edu	37	1	207288784	207288784	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr1:207288784G>C	ENST00000367070.3	+	4	546	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	118	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACACCCAGGAGAGTTACGTAA	0.363																																						dbGAP											0													102.0	99.0	100.0					1																	207288784		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.352G>C	1.37:g.207288784G>C	ENSP00000356037:p.Glu118Gln		Q5VVQ8	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E118Q	ENST00000367070.3	37	c.352	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793384	0.50102	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.64085	-0.08;-0.08	5.36	4.43	0.53597	Complement control module (2);Sushi/SCR/CCP (3);	0.956503	0.08685	N	0.908834	T	0.71592	0.3358	L	0.58583	1.82	0.28007	N	0.935053	P	0.36086	0.536	P	0.51657	0.676	T	0.60682	-0.7215	10	0.21540	T	0.41	.	11.9357	0.52872	0.0:0.0:0.8269:0.1731	.	118	P04003	C4BPA_HUMAN	Q	118	ENSP00000356037:E118Q;ENSP00000403386:E118Q	ENSP00000356037:E118Q	E	+	1	0	C4BPA	205355407	1.000000	0.71417	0.987000	0.45799	0.209000	0.24338	3.216000	0.51176	1.371000	0.46172	0.585000	0.79938	GAG	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000123838		0.363	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	416	0.00	0	G			207288784	207288784	+1	no_errors	ENST00000367070	ensembl	human	known	69_37n	missense	362	42.29	266	SNP	0.997	C
ARF1	375	genome.wustl.edu	37	1	228285614	228285614	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr1:228285614G>A	ENST00000541182.1	+	5	708	c.446G>A	c.(445-447)cGc>cAc	p.R149H	C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000540651.1_Missense_Mutation_p.R149H|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R149H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	149					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CACTCACTACGCCACAGGAAC	0.612																																						dbGAP											0													79.0	73.0	75.0					1																	228285614		2203	4300	6503	-	-	-	SO:0001583	missense	0			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.446G>A	1.37:g.228285614G>A	ENSP00000440005:p.Arg149His		P10947|P32889	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R149H	ENST00000541182.1	37	c.446	CCDS1565.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866773	0.72065	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	D;D;D	0.82984	-1.67;-1.67;-1.67	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	D	0.84633	0.5515	M	0.79123	2.44	0.80722	D	1	B	0.18310	0.027	B	0.10450	0.005	T	0.81527	-0.0892	10	0.62326	D	0.03	-1.681	19.4067	0.94649	0.0:0.0:1.0:0.0	.	149	P84077	ARF1_HUMAN	H	149;149;140;149	ENSP00000272102:R149H;ENSP00000442980:R149H;ENSP00000440005:R149H	ENSP00000272102:R149H	R	+	2	0	ARF1	226352237	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.483000	0.97937	2.826000	0.97356	0.491000	0.48974	CGC	ARF1	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type	ENSG00000143761		0.612	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	HGNC	protein_coding	OTTHUMT00000091650.1	97	0.00	0	G	NM_001024227		228285614	228285614	+1	no_errors	ENST00000272102	ensembl	human	known	69_37n	missense	121	28.49	49	SNP	1.000	A
AHCTF1	25909	genome.wustl.edu	37	1	247063726	247063726	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr1:247063726T>G	ENST00000391829.2	-	9	1286	c.1163A>C	c.(1162-1164)aAt>aCt	p.N388T	AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000366508.1_Missense_Mutation_p.N423T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N397T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	388	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCATATATATTCACCTGCCA	0.343																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													40.0	42.0	42.0					1																	247063726		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1163A>C	1.37:g.247063726T>G	ENSP00000375705:p.Asn388Thr		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.N397T	ENST00000391829.2	37	c.1190		1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251969	0.80135	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.20738	2.05;2.05;2.05	5.21	5.21	0.72293	.	0.046644	0.85682	D	0.000000	T	0.32852	0.0843	L	0.27053	0.805	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.96	T	0.04607	-1.0939	10	0.30854	T	0.27	-25.9812	15.3645	0.74510	0.0:0.0:0.0:1.0	.	423;388	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	T	423;397;388	ENSP00000355464:N423T;ENSP00000355465:N397T;ENSP00000375705:N388T	ENSP00000355465:N397T	N	-	2	0	AHCTF1	245130349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.751000	0.68720	2.092000	0.63282	0.374000	0.22700	AAT	AHCTF1	-	NULL	ENSG00000153207		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		139	0.00	0	T	NM_015446		247063726	247063726	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	180	15.09	32	SNP	1.000	G
CALHM2	51063	genome.wustl.edu	37	10	105207117	105207117	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr10:105207117G>A	ENST00000260743.5	-	4	1287	c.764C>T	c.(763-765)gCg>gTg	p.A255V	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.A255V|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	255					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTTGTTGAGCGCCACAAAGCC	0.597																																						dbGAP											0													91.0	80.0	84.0					10																	105207117		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.764C>T	10.37:g.105207117G>A	ENSP00000260743:p.Ala255Val		D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	NULL	p.A255V	ENST00000260743.5	37	c.764	CCDS7549.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481314	0.84747	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.18174	2.23;2.23	5.37	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	M	0.68317	2.08	0.80722	D	1	D	0.54397	0.966	P	0.46253	0.509	T	0.01920	-1.1247	10	0.52906	T	0.07	-23.2803	9.5477	0.39291	0.0742:0.0:0.7834:0.1424	.	255	Q9HA72	CAHM2_HUMAN	V	255	ENSP00000358803:A255V;ENSP00000260743:A255V	ENSP00000260743:A255V	A	-	2	0	CALHM2	105197107	1.000000	0.71417	0.868000	0.34077	0.911000	0.54048	6.276000	0.72601	1.269000	0.44280	0.561000	0.74099	GCG	CALHM2	-	NULL	ENSG00000138172		0.597	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM2	HGNC	protein_coding	OTTHUMT00000050159.1	30	0.00	0	G	NM_015916		105207117	105207117	-1	no_errors	ENST00000260743	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.983	A
CASP8AP2	9994	genome.wustl.edu	37	6	90572907	90572907	+	RNA	SNP	T	T	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr6:90572907T>C	ENST00000551025.1	+	0	2916									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAAGAGTACCTACAGAACATT	0.328																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													46.0	44.0	45.0					6																	90572907		1821	4074	5895	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572907T>C				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.328	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		171	0.00	0	T	NM_001137667		90572907	90572907	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	124	24.39	40	SNP	0.000	C
CDH1	999	genome.wustl.edu	37	16	68849608	68849608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr16:68849608delA	ENST00000261769.5	+	10	1702	c.1511delA	c.(1510-1512)gaafs	p.E504fs	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Frame_Shift_Del_p.E443fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	504	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTGGGCCAGGAAATCACATCC	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)											136.0	121.0	126.0					16																	68849608		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1511delA	16.37:g.68849608delA	ENSP00000261769:p.Glu504fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I505fs	ENST00000261769.5	37	c.1511	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	206	0.00	0	A	NM_004360		68849608	68849608	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	121	21.52	34	DEL	0.096	-
DLL4	54567	genome.wustl.edu	37	15	41227207	41227207	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr15:41227207C>T	ENST00000249749.5	+	8	1408	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	378	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGCTCCTGCCGGGAGCGCAA	0.612																																						dbGAP											0													51.0	55.0	53.0					15																	41227207		1995	4182	6177	-	-	-	SO:0001583	missense	0			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1132C>T	15.37:g.41227207C>T	ENSP00000249749:p.Arg378Trp		Q3KP23|Q9NQT9	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.R378W	ENST00000249749.5	37	c.1132	CCDS45232.1	15	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757271	0.49468	.	.	ENSG00000128917	ENST00000249749	T	0.34667	1.35	5.96	5.96	0.96718	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.701703	0.14313	N	0.327546	T	0.35799	0.0944	L	0.60904	1.88	0.40193	D	0.977423	B	0.09022	0.002	B	0.10450	0.005	T	0.26608	-1.0098	10	0.66056	D	0.02	.	8.9585	0.35832	0.1494:0.7718:0.0:0.0787	.	378	Q9NR61	DLL4_HUMAN	W	378	ENSP00000249749:R378W	ENSP00000249749:R378W	R	+	1	2	DLL4	39014499	0.865000	0.29922	0.992000	0.48379	0.997000	0.91878	0.389000	0.20751	2.833000	0.97629	0.650000	0.86243	CGG	DLL4	-	pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000128917		0.612	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL4	HGNC	protein_coding	OTTHUMT00000418859.1	29	0.00	0	C			41227207	41227207	+1	no_errors	ENST00000249749	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	0.932	T
ENG	2022	genome.wustl.edu	37	9	130580642	130580642	+	Silent	SNP	T	T	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr9:130580642T>C	ENST00000373203.4	-	12	1843	c.1443A>G	c.(1441-1443)ccA>ccG	p.P481P	ENG_ENST00000344849.3_Silent_p.P481P|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	481	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CGGAGACGGATGGGGACACTC	0.622									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													dbGAP											0													39.0	38.0	38.0					9																	130580642		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1443A>G	9.37:g.130580642T>C			Q14248|Q14926|Q5T9C0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105	p.P481	ENST00000373203.4	37	c.1443	CCDS48029.1	9																																																																																			ENG	-	pfam_Zona_pellucida_Endoglin/CD105	ENSG00000106991		0.622	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	28	0.00	0	T			130580642	130580642	-1	no_errors	ENST00000373203	ensembl	human	known	69_37n	silent	26	27.78	10	SNP	0.018	C
ETV1	2115	genome.wustl.edu	37	7	13940377	13940377	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr7:13940377C>T	ENST00000430479.1	-	13	1865	c.1198G>A	c.(1198-1200)Gga>Aga	p.G400R	ETV1_ENST00000420159.2_Missense_Mutation_p.G342R|ETV1_ENST00000405358.4_Missense_Mutation_p.G414R|ETV1_ENST00000399357.3_Missense_Mutation_p.G297R|ETV1_ENST00000242066.5_Missense_Mutation_p.G382R|ETV1_ENST00000403527.1_Missense_Mutation_p.G360R|ETV1_ENST00000405218.2_Missense_Mutation_p.G400R|ETV1_ENST00000403685.1_Missense_Mutation_p.G382R|ETV1_ENST00000343495.5_Missense_Mutation_p.G382R|ETV1_ENST00000405192.2_Missense_Mutation_p.G377R	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	400					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCATAATTCCTTTCTCATAG	0.403			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	dbGAP		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	0													75.0	70.0	71.0					7																	13940377		1876	4135	6011	-	-	-	SO:0001583	missense	0				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1198G>A	7.37:g.13940377C>T	ENSP00000405327:p.Gly400Arg		A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.G400R	ENST00000430479.1	37	c.1198	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.101594	0.94245	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.54	5.54	0.83059	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;0.996;1.0;1.0;1.0	D;D;D;P;D;D;D	0.97110	1.0;1.0;0.955;0.9;1.0;1.0;0.996	T	0.74411	-0.3674	10	0.87932	D	0	.	19.9081	0.97015	0.0:1.0:0.0:0.0	.	388;382;414;342;297;360;400	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	R	400;382;382;342;297;377;414;360;400;382	ENSP00000405327:G400R;ENSP00000242066:G382R;ENSP00000340853:G382R;ENSP00000411626:G342R;ENSP00000382293:G297R;ENSP00000385381:G377R;ENSP00000384085:G414R;ENSP00000384138:G360R;ENSP00000385551:G400R;ENSP00000385686:G382R	ENSP00000242066:G382R	G	-	1	0	ETV1	13906902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.766000	0.95052	0.644000	0.83932	GGA	ETV1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000006468		0.403	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	395	0.00	0	C	NM_004956		13940377	13940377	-1	no_errors	ENST00000405218	ensembl	human	known	69_37n	missense	312	20.00	78	SNP	1.000	T
GIN1	54826	genome.wustl.edu	37	5	102432415	102432415	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr5:102432415T>A	ENST00000399004.2	-	7	1218	c.1124A>T	c.(1123-1125)aAa>aTa	p.K375I	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	375					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CCACCAATTTTTCCTTTGTCT	0.353																																						dbGAP											0													205.0	192.0	196.0					5																	102432415		1839	4082	5921	-	-	-	SO:0001583	missense	0			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1124A>T	5.37:g.102432415T>A	ENSP00000381970:p.Lys375Ile		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.K375I	ENST00000399004.2	37	c.1124	CCDS43349.1	5	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389528	0.82902	.	.	ENSG00000145723	ENST00000399004	T	0.21191	2.02	5.77	5.77	0.91146	.	0.000000	0.45126	U	0.000384	T	0.35422	0.0931	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12656	-1.0539	10	0.87932	D	0	-16.787	14.6701	0.68937	0.0:0.0:0.0:1.0	.	375	Q9NXP7	GIN1_HUMAN	I	375	ENSP00000381970:K375I	ENSP00000381970:K375I	K	-	2	0	GIN1	102460314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	2.203000	0.70933	0.533000	0.62120	AAA	GIN1	-	NULL	ENSG00000145723		0.353	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	HGNC	protein_coding	OTTHUMT00000370478.3	586	0.00	0	T	NM_017676		102432415	102432415	-1	no_errors	ENST00000399004	ensembl	human	known	69_37n	missense	453	21.63	125	SNP	1.000	A
GPSM1	26086	genome.wustl.edu	37	9	139229081	139229081	+	Silent	SNP	C	C	T	rs556468040	byFrequency	TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr9:139229081C>T	ENST00000440944.1	+	2	466	c.246C>T	c.(244-246)caC>caT	p.H82H	GPSM1_ENST00000392945.3_Silent_p.H82H	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	82	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAAGGAGCACGGCCGGGCGC	0.652													c|||	4	0.000798722	0.0	0.0	5008	,	,		16252	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													63.0	60.0	61.0					9																	139229081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.246C>T	9.37:g.139229081C>T			A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H82	ENST00000440944.1	37	c.246	CCDS48055.1	9																																																																																			GPSM1	-	smart_TPR_repeat	ENSG00000160360		0.652	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		36	0.00	0	C	NM_015597		139229081	139229081	+1	no_errors	ENST00000440944	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.998	T
HIVEP1	3096	genome.wustl.edu	37	6	12163882	12163882	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr6:12163882T>C	ENST00000379388.2	+	9	7677	c.7345T>C	c.(7345-7347)Tct>Cct	p.S2449P	HIVEP1_ENST00000541134.1_Missense_Mutation_p.S314P	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2449					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACAGAAGTGTCTGGCACTAC	0.522																																						dbGAP											0													87.0	90.0	89.0					6																	12163882		2009	4182	6191	-	-	-	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7345T>C	6.37:g.12163882T>C	ENSP00000368698:p.Ser2449Pro		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2449P	ENST00000379388.2	37	c.7345	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	T	8.097	0.775843	0.16051	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.37584	2.77;1.19	6.02	-6.92	0.01644	.	0.462344	0.16267	N	0.221965	T	0.05044	0.0135	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.31861	-0.9928	10	0.19590	T	0.45	-0.8432	3.7914	0.08722	0.0889:0.3587:0.2729:0.2794	.	2449	P15822	ZEP1_HUMAN	P	2449;314;431	ENSP00000368698:S2449P;ENSP00000445617:S314P	ENSP00000368698:S2449P	S	+	1	0	HIVEP1	12271868	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.787000	0.04618	-1.176000	0.02747	-0.313000	0.08912	TCT	HIVEP1	-	NULL	ENSG00000095951		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	131	0.75	1	T	NM_002114		12163882	12163882	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	missense	134	21.18	36	SNP	0.000	C
IFT46	56912	genome.wustl.edu	37	11	118425295	118425295	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr11:118425295C>T	ENST00000264021.3	-	7	780	c.362G>A	c.(361-363)cGt>cAt	p.R121H	IFT46_ENST00000530872.1_Missense_Mutation_p.R172H|IFT46_ENST00000264020.2_Missense_Mutation_p.R172H	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	121					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATCAGGACGTGGGACCTG	0.408																																						dbGAP											0													150.0	140.0	143.0					11																	118425295		2200	4295	6495	-	-	-	SO:0001583	missense	0			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.362G>A	11.37:g.118425295C>T	ENSP00000264021:p.Arg121His		A8K0F6|Q9H6V5	Missense_Mutation	SNP	pfam_Intraflagellar_transp_cmplxB	p.R172H	ENST00000264021.3	37	c.515	CCDS53718.1	11	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827575	0.90955	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156	T;T;T;T;T	0.55588	0.52;0.51;0.52;0.55;0.55	5.67	4.76	0.60689	.	0.108147	0.64402	D	0.000008	T	0.71048	0.3294	M	0.86178	2.8	0.58432	D	0.999995	D;D;D	0.67145	0.996;0.986;0.993	P;P;P	0.57846	0.828;0.751;0.795	T	0.77661	-0.2504	10	0.87932	D	0	-1.1338	14.6488	0.68780	0.0:0.9303:0.0:0.0697	.	172;121;172	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	H	121;172;172;121;121	ENSP00000264021:R121H;ENSP00000264020:R172H;ENSP00000432384:R172H;ENSP00000435826:R121H;ENSP00000434175:R121H	ENSP00000264020:R172H	R	-	2	0	IFT46	117930505	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.260000	0.78391	1.419000	0.47118	-0.142000	0.14014	CGT	IFT46	-	pfam_Intraflagellar_transp_cmplxB	ENSG00000118096		0.408	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	HGNC	protein_coding	OTTHUMT00000389627.1	290	0.00	0	C	NM_020153		118425295	118425295	-1	no_errors	ENST00000264020	ensembl	human	known	69_37n	missense	295	17.78	64	SNP	1.000	T
KIR3DL1	3811	genome.wustl.edu	37	19	55325455	55325455	+	Intron	SNP	G	G	A	rs1051457	byFrequency	TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr19:55325455G>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_3'UTR|KIR2DL4_ENST00000346587.4_Silent_p.L211L|KIR3DL1_ENST00000326542.7_5'Flank|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Silent_p.L289L|KIR3DL1_ENST00000391728.4_5'Flank|KIR2DL4_ENST00000396293.1_Silent_p.L194L|KIR3DL1_ENST00000358178.4_5'Flank|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Silent_p.L306L|KIR2DL4_ENST00000396284.2_Silent_p.L361L			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGAGCGTTGTCTCCTGCCC	0.522													g|||	1141	0.227835	0.0197	0.3199	5008	,	,		10104	0.4712		0.1839	False		,,,				2504	0.2382					dbGAP											0													5.0	6.0	6.0					19																	55325455		1012	3024	4036	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-3534G>A	19.37:g.55325455G>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.L361	ENST00000538269.1	37	c.1083		19																																																																																			KIR2DL4	-	NULL	ENSG00000189013		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL4	HGNC	protein_coding		34	0.00	0	G	NM_013289		55325455	55325455	+1	no_errors	ENST00000396284	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	0.001	A
KRAS	3845	genome.wustl.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93.0	83.0	86.0					12																	25398285		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12C	ENST00000256078.4	37	c.34	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	340	0.00	0	C	NM_033360		25398285	25398285	-1	no_errors	ENST00000256078	ensembl	human	known	69_37n	missense	330	23.79	103	SNP	1.000	A
MOGS	7841	genome.wustl.edu	37	2	74689879	74689879	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr2:74689879T>C	ENST00000233616.4	-	4	1199	c.1037A>G	c.(1036-1038)aAt>aGt	p.N346S	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.N240S|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	346					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAGGGCTTGATTTCCTCCTGC	0.542																																						dbGAP											0													91.0	96.0	94.0					2																	74689879		1957	4149	6106	-	-	-	SO:0001583	missense	0			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1037A>G	2.37:g.74689879T>C	ENSP00000233616:p.Asn346Ser		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.N346S	ENST00000233616.4	37	c.1037	CCDS42700.1	2	.	.	.	.	.	.	.	.	.	.	T	0.068	-1.207862	0.01568	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37411	1.2;1.2;1.2	4.73	-1.35	0.09114	.	1.400340	0.04475	N	0.376749	T	0.21387	0.0515	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14448	-1.0472	10	0.10636	T	0.68	0.3455	4.68	0.12731	0.1554:0.164:0.0:0.6806	.	346	Q13724	MOGS_HUMAN	S	346;240;240	ENSP00000233616:N346S;ENSP00000388201:N240S;ENSP00000410992:N240S	ENSP00000233616:N346S	N	-	2	0	MOGS	74543387	0.002000	0.14202	0.012000	0.15200	0.403000	0.30841	0.380000	0.20602	-0.235000	0.09767	0.533000	0.62120	AAT	MOGS	-	pfam_Glycoside_hydrolase_63	ENSG00000115275		0.542	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	134	0.00	0	T	NM_006302		74689879	74689879	-1	no_errors	ENST00000233616	ensembl	human	known	69_37n	missense	84	15.15	15	SNP	0.001	C
MTERF2	80298	genome.wustl.edu	37	12	107372349	107372349	+	Silent	SNP	T	T	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr12:107372349T>C	ENST00000552029.1	-	2	2212	c.144A>G	c.(142-144)acA>acG	p.T48T	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Silent_p.T48T|MTERFD3_ENST00000392830.2_Silent_p.T48T			Q49AM1	MTEF2_HUMAN		48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTTTCCACTGTTCTTGTAT	0.358																																						dbGAP											0													124.0	116.0	119.0					12																	107372349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000552029.1:c.144A>G	12.37:g.107372349T>C			Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.T48	ENST00000552029.1	37	c.144	CCDS9111.1	12																																																																																			MTERFD3	-	NULL	ENSG00000120832		0.358	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MTERFD3	HGNC	protein_coding	OTTHUMT00000406835.1	748	0.00	0	T			107372349	107372349	-1	no_errors	ENST00000240050	ensembl	human	known	69_37n	silent	568	16.59	113	SNP	0.503	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	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	388	0.26	1	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	265	17.70	57	SNP	1.000	A
PROSER1	80209	genome.wustl.edu	37	13	39587543	39587543	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr13:39587543G>A	ENST00000352251.3	-	11	2679	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P594S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	616	Ser-rich.																AAGGCCGAGGGAGTAGGACTT	0.517																																						dbGAP											0													155.0	164.0	161.0					13																	39587543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1846C>T	13.37:g.39587543G>A	ENSP00000332034:p.Pro616Ser		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.P594S	ENST00000352251.3	37	c.1780	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569747	0.86439	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.47528	0.84;0.84	5.01	5.01	0.66863	.	.	.	.	.	T	0.57359	0.2048	L	0.32530	0.975	0.52099	D	0.99994	D;D	0.76494	0.999;0.989	D;P	0.68943	0.961;0.836	T	0.53690	-0.8403	8	.	.	.	-19.3899	17.6528	0.88169	0.0:0.0:1.0:0.0	.	594;616	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	616;594	ENSP00000332034:P616S;ENSP00000339123:P594S	.	P	-	1	0	PROSER1	38485543	1.000000	0.71417	0.947000	0.38551	0.867000	0.49689	6.326000	0.72905	2.469000	0.83416	0.561000	0.74099	CCC	PROSER1	-	NULL	ENSG00000120685		0.517	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	249	0.00	0	G	NM_025138		39587543	39587543	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	missense	271	21.45	74	SNP	1.000	A
RPGRIP1L	23322	genome.wustl.edu	37	16	53691373	53691373	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr16:53691373C>G	ENST00000379925.3	-	13	1623	c.1573G>C	c.(1573-1575)Gat>Cat	p.D525H	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.D525H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D525H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D525H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	525					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACCTGATAATCTTTATTAATT	0.323																																						dbGAP											0													72.0	66.0	68.0					16																	53691373		2196	4299	6495	-	-	-	SO:0001583	missense	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1573G>C	16.37:g.53691373C>G	ENSP00000369257:p.Asp525His		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D525H	ENST00000379925.3	37	c.1573	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573600	0.86542	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.79554	-0.16;-1.28	6.04	6.04	0.98038	.	0.048451	0.85682	D	0.000000	D	0.88269	0.6391	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74348	0.944;0.962;0.962;0.983	D	0.88044	0.2783	10	0.66056	D	0.02	-23.5747	18.3679	0.90398	0.0:1.0:0.0:0.0	.	525;525;525;525	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	525	ENSP00000369257:D525H;ENSP00000262135:D525H	ENSP00000262135:D525H	D	-	1	0	RPGRIP1L	52248874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.305000	0.65750	2.873000	0.98535	0.563000	0.77884	GAT	RPGRIP1L	-	NULL	ENSG00000103494		0.323	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	297	0.00	0	C	NM_015272		53691373	53691373	-1	no_errors	ENST00000379925	ensembl	human	known	69_37n	missense	216	21.74	60	SNP	1.000	G
RPRD1B	58490	genome.wustl.edu	37	20	36694652	36694653	+	Frame_Shift_Del	DEL	AC	AC	-	rs372667232		TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr20:36694652_36694653delAC	ENST00000373433.4	+	6	1227_1228	c.825_826delAC	c.(823-828)aaactafs	p.KL275fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGGAGAAAAAACTAGAGGTGAG	0.48																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.825_826delAC	20.37:g.36694652_36694653delAC	ENSP00000362532:p.Lys275fs		Q1WDE7|Q6PKF4	Frame_Shift_Del	DEL	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.K275fs	ENST00000373433.4	37	c.825_826	CCDS13301.1	20																																																																																			RPRD1B	-	NULL	ENSG00000101413		0.480	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	138	0.00	0	AC	NM_021215		36694652	36694653	+1	no_errors	ENST00000373433	ensembl	human	known	69_37n	frame_shift_del	127	17.68	29	DEL	0.982:1.000	-
TAF1	6872	genome.wustl.edu	37	X	70602701	70602701	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chrX:70602701G>A	ENST00000373790.4	+	11	1804	c.1753G>A	c.(1753-1755)Gga>Aga	p.G585R	TAF1_ENST00000276072.3_Missense_Mutation_p.G606R|TAF1_ENST00000449580.1_Missense_Mutation_p.G585R|TAF1_ENST00000423759.1_Missense_Mutation_p.G606R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	585	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGGCACCTTTGGAGGGAATAT	0.423																																						dbGAP											0													112.0	105.0	108.0					X																	70602701		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1753G>A	X.37:g.70602701G>A	ENSP00000362895:p.Gly585Arg		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.G585R	ENST00000373790.4	37	c.1753	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	20.3	3.973400	0.74246	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.97	4.18	0.49190	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.90309	3.105	0.58432	D	0.999999	P;D	0.89917	0.95;1.0	P;D	0.87578	0.802;0.998	T	0.55964	-0.8057	10	0.87932	D	0	.	12.3452	0.55116	0.128:0.0:0.872:0.0	.	585;606	P21675;P21675-2	TAF1_HUMAN;.	R	585;585;606;606	ENSP00000362895:G585R;ENSP00000389000:G585R;ENSP00000406549:G606R;ENSP00000276072:G606R	ENSP00000276072:G606R	G	+	1	0	TAF1	70519426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.550000	0.82173	2.521000	0.84997	0.540000	0.68198	GGA	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000147133		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	539	0.00	0	G	NM_004606		70602701	70602701	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	474	21.78	132	SNP	1.000	A
TNRC6A	27327	genome.wustl.edu	37	16	24833445	24833445	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr16:24833445G>A	ENST00000395799.3	+	23	5479	c.5350G>A	c.(5350-5352)Gtt>Att	p.V1784I	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.V1735I|TNRC6A_ENST00000432286.2_Missense_Mutation_p.V262I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1784	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAATTGGCTTGTTCTAAAAAA	0.473																																						dbGAP											0													145.0	125.0	132.0					16																	24833445		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5350G>A	16.37:g.24833445G>A	ENSP00000379144:p.Val1784Ile		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.V1784I	ENST00000395799.3	37	c.5350	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.655416|5.655416	0.96724|0.96724	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56046|0.56046	0.1959|0.1959	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.99;0.994	.|D;D	.|0.75484	.|0.986;0.978	T|T	0.57757|0.57757	-0.7756|-0.7756	5|10	.|0.56958	.|D	.|0.05	-4.2177|-4.2177	18.8921|18.8921	0.92408|0.92408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1735;1784	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	Y|I	674|1735;1784;262	.|ENSP00000326900:V1735I;ENSP00000379144:V1784I;ENSP00000403015:V262I	.|ENSP00000326900:V1735I	C|V	+|+	2|1	0|0	TNRC6A|TNRC6A	24740946|24740946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.802000|9.802000	0.99131|0.99131	2.447000|2.447000	0.82792|0.82792	0.655000|0.655000	0.94253|0.94253	TGT|GTT	TNRC6A	-	NULL	ENSG00000090905		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	371	0.00	0	G	NM_020847		24833445	24833445	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	496	17.42	108	SNP	1.000	A
TOR1A	1861	genome.wustl.edu	37	9	132576329	132576329	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr9:132576329G>T	ENST00000351698.4	-	5	969	c.921C>A	c.(919-921)ttC>ttA	p.F307L		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	307	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CCTCTTTGGGGAAAAATGTCA	0.428																																						dbGAP											0													181.0	173.0	176.0					9																	132576329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.921C>A	9.37:g.132576329G>T	ENSP00000345719:p.Phe307Leu		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,pirsf_Torsin_subgr	p.F307L	ENST00000351698.4	37	c.921	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631341	0.87660	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.61980	0.06	5.27	5.27	0.74061	.	0.043679	0.85682	D	0.000000	T	0.74015	0.3661	M	0.79693	2.465	0.80722	D	1	D	0.61080	0.989	P	0.56612	0.802	T	0.77321	-0.2631	10	0.59425	D	0.04	-3.84	11.3556	0.49613	0.0832:0.0:0.9168:0.0	.	307	O14656	TOR1A_HUMAN	L	276;307	ENSP00000345719:F307L	ENSP00000345719:F307L	F	-	3	2	TOR1A	131616150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.710000	0.47169	2.439000	0.82584	0.561000	0.74099	TTC	TOR1A	-	pirsf_Torsin_subgr	ENSG00000136827		0.428	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	348	0.00	0	G	NM_000113		132576329	132576329	-1	no_errors	ENST00000351698	ensembl	human	known	69_37n	missense	320	19.35	78	SNP	1.000	T
TSPAN2	10100	genome.wustl.edu	37	1	115615557	115615557	+	Silent	SNP	T	T	C			TCGA-AR-A1AL-01A-21D-A12Q-09	TCGA-AR-A1AL-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8495c66e-dc95-4eae-909b-b51b8bc84889	c3cd25a8-9372-4861-91a1-bace1cdc7b54	g.chr1:115615557T>C	ENST00000369516.2	-	2	172	c.141A>G	c.(139-141)tcA>tcG	p.S47S	TSPAN2_ENST00000369514.2_Silent_p.S47S|TSPAN2_ENST00000369515.2_Silent_p.S47S	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	47					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTTGTCCTCTGATGATAACT	0.502																																						dbGAP											0													126.0	114.0	118.0					1																	115615557		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.141A>G	1.37:g.115615557T>C			D6PTH4|Q5TET2|Q8WU05	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S47	ENST00000369516.2	37	c.141	CCDS881.1	1																																																																																			TSPAN2	-	pfam_Tetraspanin/Peripherin	ENSG00000134198		0.502	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	HGNC	protein_coding	OTTHUMT00000032828.1	217	0.00	0	T	NM_005725		115615557	115615557	-1	no_errors	ENST00000369516	ensembl	human	known	69_37n	silent	206	18.90	48	SNP	0.984	C
