#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC1	4363	genome.wustl.edu	37	16	16139859	16139859	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr16:16139859G>T	ENST00000399410.3	+	9	1382	c.1207G>T	c.(1207-1209)Gtc>Ttc	p.V403F	ABCC1_ENST00000349029.5_Missense_Mutation_p.V403F|ABCC1_ENST00000346370.5_Missense_Mutation_p.V403F|ABCC1_ENST00000399408.2_Missense_Mutation_p.V403F|ABCC1_ENST00000345148.5_Missense_Mutation_p.V403F|ABCC1_ENST00000351154.5_Missense_Mutation_p.V403F	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	403	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CATTGGGGCTGTCTATCGGAA	0.597											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													64.0	66.0	65.0					16																	16139859		2100	4225	6325	-	-	-	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1207G>T	16.37:g.16139859G>T	ENSP00000382342:p.Val403Phe	Somatic	708	WXS	Illumina GAIIx	Phase_IV	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.V403F	ENST00000399410.3	37	c.1207	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825517	0.50739	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.2	4.14	0.48551	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.203604	0.44902	D	0.000415	D	0.94902	0.8352	M	0.91972	3.26	0.48185	D	0.999609	P;P;D;P;P;P;P	0.61697	0.928;0.928;0.99;0.917;0.928;0.933;0.917	P;P;D;P;P;P;P	0.66602	0.734;0.66;0.945;0.847;0.66;0.905;0.847	D	0.94604	0.7798	10	0.87932	D	0	-38.9284	6.9478	0.24528	0.1905:0.0:0.8095:0.0	.	403;403;403;403;403;403;403	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	F	403;403;403;403;403;403;77	ENSP00000382342:V403F;ENSP00000382340:V403F;ENSP00000263019:V403F;ENSP00000263017:V403F;ENSP00000263014:V403F;ENSP00000263016:V403F	ENSP00000263014:V403F	V	+	1	0	ABCC1	16047360	0.992000	0.36948	0.732000	0.30844	0.193000	0.23685	2.207000	0.42788	2.406000	0.81754	0.549000	0.68633	GTC	ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	92	0.00	0	G	NM_004996		16139859	16139859	+1	no_errors	ENST00000399408	ensembl	human	known	69_37n	missense	79	23.30	24	SNP	0.974	T
APC	324	genome.wustl.edu	37	5	112179735	112179735	+	Missense_Mutation	SNP	A	A	G			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr5:112179735A>G	ENST00000457016.1	+	16	8824	c.8444A>G	c.(8443-8445)aAg>aGg	p.K2815R	APC_ENST00000257430.4_Missense_Mutation_p.K2815R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.K2815R			P25054	APC_HUMAN	adenomatous polyposis coli	2815	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACACAAAGAAGCGAGATTCC	0.458		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											77.0	80.0	79.0					5																	112179735		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8444A>G	5.37:g.112179735A>G	ENSP00000413133:p.Lys2815Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K2815R	ENST00000457016.1	37	c.8444	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713191	0.68730	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.81499	-1.5;-1.5;-1.5	5.92	5.92	0.95590	EB-1 binding (1);	0.096519	0.64402	D	0.000001	D	0.84437	0.5472	L	0.32530	0.975	0.50813	D	0.999894	P;D	0.71674	0.794;0.998	P;D	0.79108	0.659;0.992	D	0.83369	0.0006	9	.	.	.	-26.517	16.3662	0.83325	1.0:0.0:0.0:0.0	.	2817;2815	Q4LE70;P25054	.;APC_HUMAN	R	2815	ENSP00000413133:K2815R;ENSP00000257430:K2815R;ENSP00000427089:K2815R	.	K	+	2	0	APC	112207634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.346000	0.90060	2.274000	0.75844	0.533000	0.62120	AAG	APC	-	pfam_EB1-bd	ENSG00000134982		0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	52	0.00	0	A	NM_000038		112179735	112179735	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	1.000	G
CELP	1057	genome.wustl.edu	37	9	135962474	135962475	+	RNA	INS	-	-	T	rs371110017|rs386739105|rs386739104|rs62576804		TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr9:135962474_135962475insT	ENST00000411440.2	+	0	981_982					NR_001275.2				carboxyl ester lipase pseudogene																		CTGTGCCCCTCACAAGTGACTC	0.673																																						dbGAP											0																																										-	-	-			0			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962474_135962475insT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-	ENSG00000170827		0.673	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	12	0.00	0	-	NM_001808		135962474	135962475	+1	no_errors	ENST00000411440	ensembl	human	known	69_37n	rna	4	33.33	2	INS	0.001:0.000	T
FAM172A	83989	genome.wustl.edu	37	5	93217183	93217183	+	Missense_Mutation	SNP	T	T	C	rs200535189		TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr5:93217183T>C	ENST00000395965.3	-	7	921	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	FAM172A_ENST00000505869.1_Missense_Mutation_p.Y150C|FAM172A_ENST00000509163.1_Missense_Mutation_p.Y214C|FAM172A_ENST00000509739.1_Missense_Mutation_p.Y113C	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	260						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CACTCTGATATACAATTGCAT	0.294																																						dbGAP											0													153.0	145.0	148.0					5																	93217183		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.779A>G	5.37:g.93217183T>C	ENSP00000379294:p.Tyr260Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.Y260C	ENST00000395965.3	37	c.779	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	T	12.08	1.831784	0.32421	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T	0.44083	0.93;0.94	4.78	2.19	0.27852	.	0.313505	0.35739	N	0.003013	T	0.34221	0.0890	L	0.29908	0.895	0.35545	D	0.803407	P;P;B;D	0.54964	0.846;0.599;0.0;0.969	B;B;B;P	0.50192	0.394;0.391;0.001;0.634	T	0.37079	-0.9721	10	0.40728	T	0.16	-9.8087	6.3941	0.21603	0.2817:0.0:0.1384:0.5799	.	113;150;260;260	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	C	260;150;113;214	ENSP00000379294:Y260C;ENSP00000423841:Y214C	ENSP00000379294:Y260C	Y	-	2	0	FAM172A	93242939	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	0.737000	0.26144	0.211000	0.20683	0.528000	0.53228	TAT	FAM172A	-	NULL	ENSG00000113391		0.294	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	174	0.00	0	T	NM_032042		93217183	93217183	-1	no_errors	ENST00000395965	ensembl	human	known	69_37n	missense	107	24.11	34	SNP	0.998	C
FCGBP	8857	genome.wustl.edu	37	19	40408834	40408834	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr19:40408834G>T	ENST00000221347.6	-	8	4012	c.4005C>A	c.(4003-4005)gaC>gaA	p.D1335E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1335	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGCTTCATGTCCACACCGT	0.587																																						dbGAP											0													25.0	20.0	22.0					19																	40408834		2203	4299	6502	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4005C>A	19.37:g.40408834G>T	ENSP00000221347:p.Asp1335Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.D1335E	ENST00000221347.6	37	c.4005	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.384137	0.01194	.	.	ENSG00000090920	ENST00000221347	T	0.58940	0.3	4.95	3.91	0.45181	von Willebrand factor, type D domain (3);	0.836338	0.10485	N	0.669098	T	0.51753	0.1693	L	0.31157	0.91	0.09310	N	1	P	0.52692	0.955	P	0.54759	0.76	T	0.30534	-0.9975	10	0.02654	T	1	.	8.7054	0.34351	0.1787:0.0:0.8213:0.0	.	1335	Q9Y6R7	FCGBP_HUMAN	E	1335	ENSP00000221347:D1335E	ENSP00000221347:D1335E	D	-	3	2	FCGBP	45100674	0.057000	0.20700	0.246000	0.24233	0.212000	0.24457	1.613000	0.36900	1.080000	0.41073	0.650000	0.86243	GAC	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	33	0.00	0	G	NM_003890		40408834	40408834	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.014	T
FTMT	94033	genome.wustl.edu	37	5	121188158	121188158	+	Missense_Mutation	SNP	A	A	G			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr5:121188158A>G	ENST00000321339.1	+	1	509	c.500A>G	c.(499-501)gAa>gGa	p.E167G		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	167	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTACTCTTGGAAAAGAACGTG	0.542																																						dbGAP											0													117.0	108.0	111.0					5																	121188158		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.500A>G	5.37:g.121188158A>G	ENSP00000313691:p.Glu167Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	p.E167G	ENST00000321339.1	37	c.500	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541982	0.65198	.	.	ENSG00000181867	ENST00000321339	T	0.80304	-1.36	3.5	2.33	0.28932	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	H	0.96048	3.76	0.58432	D	0.999998	P	0.44380	0.834	P	0.56700	0.804	D	0.88973	0.3402	10	0.72032	D	0.01	.	7.4385	0.27169	0.8906:0.0:0.1094:0.0	.	167	Q8N4E7	FTMT_HUMAN	G	167	ENSP00000313691:E167G	ENSP00000313691:E167G	E	+	2	0	FTMT	121216057	1.000000	0.71417	0.024000	0.17045	0.981000	0.71138	8.428000	0.90278	0.701000	0.31803	0.533000	0.62120	GAA	FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	ENSG00000181867		0.542	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	12	0.00	0	A	NM_177478		121188158	121188158	+1	no_errors	ENST00000321339	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	G
GATA3	2625	genome.wustl.edu	37	10	8115928	8115929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr10:8115928_8115929insA	ENST00000346208.3	+	6	1729_1730	c.1274_1275insA	c.(1273-1278)ccatccfs	p.S426fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.S427fs			P23771	GATA3_HUMAN	GATA binding protein 3	426					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S427fs*>20(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ATGCACCCGCCATCCAGCCTGT	0.658			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1275dupA	10.37:g.8115929_8115929dupA	ENSP00000341619:p.Ser426fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S427fs	ENST00000346208.3	37	c.1277_1278	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.658	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	68	0.00	0	-	NM_001002295		8115928	8115929	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	49	34.67	26	INS	0.981:0.204	A
HRNR	388697	genome.wustl.edu	37	1	152190761	152190761	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr1:152190761T>A	ENST00000368801.2	-	3	3419	c.3344A>T	c.(3343-3345)tAt>tTt	p.Y1115F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1115					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGGCCATAGCCAGAAGA	0.617																																						dbGAP											0													4.0	5.0	4.0					1																	152190761		1586	3423	5009	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3344A>T	1.37:g.152190761T>A	ENSP00000357791:p.Tyr1115Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Y1115F	ENST00000368801.2	37	c.3344	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	T	9.465	1.094153	0.20471	.	.	ENSG00000197915	ENST00000368801	T	0.02763	4.17	4.1	-6.21	0.02065	.	.	.	.	.	T	0.00384	0.0012	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.17722	0.019	T	0.48658	-0.9016	9	0.10111	T	0.7	.	1.4279	0.02327	0.2528:0.3753:0.1289:0.243	.	1115	Q86YZ3	HORN_HUMAN	F	1115	ENSP00000357791:Y1115F	ENSP00000357791:Y1115F	Y	-	2	0	HRNR	150457385	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.192000	0.01245	-1.377000	0.02123	0.529000	0.55759	TAT	HRNR	-	NULL	ENSG00000197915		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	46	0.00	0	T	XM_373868		152190761	152190761	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	0.000	A
KIAA2022	340533	genome.wustl.edu	37	X	73962855	73962855	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chrX:73962855C>T	ENST00000055682.6	-	3	2148	c.1537G>A	c.(1537-1539)Gtt>Att	p.V513I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	513					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGAACCAACTGGCAGCCAT	0.398																																						dbGAP											0													64.0	59.0	61.0					X																	73962855		2199	4293	6492	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1537G>A	X.37:g.73962855C>T	ENSP00000055682:p.Val513Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.V513I	ENST00000055682.6	37	c.1537	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	5.154	0.213951	0.09810	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29397	1.57;1.57	6.03	5.18	0.71444	.	0.589034	0.19178	N	0.120748	T	0.15869	0.0382	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.38643	T	0.18	-2.0289	16.5506	0.84472	0.0:0.8731:0.1269:0.0	.	513	Q5QGS0	K2022_HUMAN	I	513	ENSP00000362567:V513I;ENSP00000055682:V513I	ENSP00000055682:V513I	V	-	1	0	KIAA2022	73879580	0.137000	0.22531	0.993000	0.49108	0.665000	0.39181	1.745000	0.38278	1.315000	0.45114	-0.172000	0.13284	GTT	KIAA2022	-	NULL	ENSG00000050030		0.398	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	128	0.00	0	C	NM_001008537		73962855	73962855	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	100	35.48	55	SNP	0.789	T
LCT	3938	genome.wustl.edu	37	2	136567501	136567501	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr2:136567501C>T	ENST00000264162.2	-	8	2426	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	806	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAAGGGCCTTCGAAGCCATCA	0.448																																						dbGAP											0													67.0	68.0	68.0					2																	136567501		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2416G>A	2.37:g.136567501C>T	ENSP00000264162:p.Glu806Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E806K	ENST00000264162.2	37	c.2416	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.587562	0.96590	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.59083	0.29	5.71	5.71	0.89125	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.108734	0.64402	D	0.000008	D	0.85410	0.5690	H	0.97783	4.075	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.90132	0.4207	10	0.87932	D	0	-26.6932	20.243	0.98386	0.0:1.0:0.0:0.0	.	806	P09848	LPH_HUMAN	K	806;238	ENSP00000264162:E806K	ENSP00000264162:E806K	E	-	1	0	LCT	136283971	1.000000	0.71417	0.975000	0.42487	0.922000	0.55478	7.765000	0.85310	2.868000	0.98415	0.557000	0.71058	GAA	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.448	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	47	0.00	0	C	NM_002299		136567501	136567501	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	37	36.21	21	SNP	1.000	T
LRRTM2	26045	genome.wustl.edu	37	5	138209483	138209483	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr5:138209483T>C	ENST00000274711.6	-	2	1145	c.767A>G	c.(766-768)gAa>gGa	p.E256G	LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000540387.1_5'Flank	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	256					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCTAGCTTTTCTAAAGTGCC	0.433																																						dbGAP											0													308.0	301.0	303.0					5																	138209483		1926	4138	6064	-	-	-	SO:0001583	missense	0			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.767A>G	5.37:g.138209483T>C	ENSP00000274711:p.Glu256Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E256G	ENST00000274711.6	37	c.767	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878374	0.51801	.	.	ENSG00000146006	ENST00000274711	T	0.59502	0.26	5.48	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.77313	2.365	0.54753	D	0.999982	P;D	0.76494	0.952;0.999	P;D	0.72982	0.692;0.979	T	0.75258	-0.3381	10	0.54805	T	0.06	.	11.4863	0.50356	0.1347:0.0:0.0:0.8653	.	122;256	B7Z4G4;O43300	.;LRRT2_HUMAN	G	256	ENSP00000274711:E256G	ENSP00000274711:E256G	E	-	2	0	LRRTM2	138237382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.159000	0.71856	1.059000	0.40554	0.528000	0.53228	GAA	LRRTM2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000146006		0.433	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	74	0.00	0	T			138209483	138209483	-1	no_errors	ENST00000274711	ensembl	human	known	69_37n	missense	59	32.95	29	SNP	1.000	C
MDGA1	266727	genome.wustl.edu	37	6	37623624	37623624	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr6:37623624C>T	ENST00000434837.3	-	4	1609	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	MDGA1_ENST00000297153.7_Missense_Mutation_p.R144Q|MDGA1_ENST00000505425.1_Missense_Mutation_p.R144Q	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	144	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GAAGTTGCCTCGCACATCGCT	0.607																																						dbGAP											0													47.0	50.0	49.0					6																	37623624		2127	4223	6350	-	-	-	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.431G>A	6.37:g.37623624C>T	ENSP00000402584:p.Arg144Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.R144Q	ENST00000434837.3	37	c.431	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.757547	0.96898	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437	T;T;T;T	0.56776	0.44;0.58;0.46;2.59	5.8	5.8	0.92144	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.42821	D	0.000658	T	0.61702	0.2368	L	0.47716	1.5	0.58432	D	0.999996	D	0.89917	1.0	D	0.72625	0.978	T	0.59952	-0.7357	10	0.51188	T	0.08	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	144	Q8NFP4	MDGA1_HUMAN	Q	144;144;144;88	ENSP00000402584:R144Q;ENSP00000297153:R144Q;ENSP00000422042:R144Q;ENSP00000421510:R88Q	ENSP00000297153:R144Q	R	-	2	0	MDGA1	37731602	0.961000	0.32948	0.758000	0.31321	0.742000	0.42306	3.304000	0.51866	2.749000	0.94314	0.655000	0.94253	CGA	MDGA1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000112139		0.607	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	30	0.00	0	C			37623624	37623624	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	missense	26	40.91	18	SNP	0.975	T
NOC2L	26155	genome.wustl.edu	37	1	892292	892292	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr1:892292T>A	ENST00000327044.6	-	4	517	c.468A>T	c.(466-468)agA>agT	p.R156S	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	156					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTGCTTCCATCTCTCAACCA	0.612																																						dbGAP											0													144.0	145.0	145.0					1																	892292		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.468A>T	1.37:g.892292T>A	ENSP00000317992:p.Arg156Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	pfam_UPF0120,superfamily_ARM-type_fold	p.R156S	ENST00000327044.6	37	c.468	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	T	3.741	-0.053542	0.07362	.	.	ENSG00000188976	ENST00000327044	T	0.20738	2.05	4.23	-8.34	0.00988	.	0.560838	0.18922	N	0.127451	T	0.11965	0.0291	L	0.38175	1.15	0.23162	N	0.998197	B;B	0.31968	0.349;0.349	B;B	0.27380	0.079;0.079	T	0.01424	-1.1358	10	0.36615	T	0.2	-1.8631	13.7221	0.62735	0.1002:0.6821:0.0:0.2177	.	156;156	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	S	156	ENSP00000317992:R156S	ENSP00000317992:R156S	R	-	3	2	NOC2L	882155	0.000000	0.05858	0.129000	0.21949	0.219000	0.24729	-3.120000	0.00595	-1.790000	0.01263	-0.909000	0.02823	AGA	NOC2L	-	NULL	ENSG00000188976		0.612	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	95	0.00	0	T	NM_015658		892292	892292	-1	no_errors	ENST00000327044	ensembl	human	known	69_37n	missense	76	29.63	32	SNP	0.064	A
NTRK3	4916	genome.wustl.edu	37	15	88420205	88420205	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr15:88420205C>A	ENST00000360948.2	-	19	2642	c.2481G>T	c.(2479-2481)ttG>ttT	p.L827F	NTRK3_ENST00000357724.2_Missense_Mutation_p.L819F|NTRK3_ENST00000394480.2_Missense_Mutation_p.L813F|NTRK3_ENST00000557856.1_Missense_Mutation_p.L805F|NTRK3_ENST00000355254.2_Missense_Mutation_p.L813F	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L813F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGCCTTCCCCAAAGCATGGA	0.537			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	1	Substitution - Missense(1)	ovary(1)											165.0	132.0	143.0					15																	88420205		2201	4299	6500	-	-	-	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2481G>T	15.37:g.88420205C>A	ENSP00000354207:p.Leu827Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L827F	ENST00000360948.2	37	c.2481	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353701	0.41700	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	T;T;T;T	0.76968	-1.06;-1.03;-0.98;-1.06	5.71	5.71	0.89125	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000005	T	0.79730	0.4496	L	0.54965	1.715	0.80722	D	1	P;D;P	0.53462	0.883;0.96;0.529	P;P;B	0.52267	0.694;0.59;0.403	T	0.80137	-0.1508	10	0.52906	T	0.07	.	11.8376	0.52336	0.0:0.9201:0.0:0.0799	.	805;813;827	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	F	813;827;819;813	ENSP00000377990:L813F;ENSP00000354207:L827F;ENSP00000350356:L819F;ENSP00000347397:L813F	ENSP00000347397:L813F	L	-	3	2	NTRK3	86221209	1.000000	0.71417	0.991000	0.47740	0.019000	0.09904	2.003000	0.40844	2.709000	0.92574	0.655000	0.94253	TTG	NTRK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000140538		0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		45	0.00	0	C			88420205	88420205	-1	no_errors	ENST00000360948	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228494729	228494729	+	Silent	SNP	C	C	A			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr1:228494729C>A	ENST00000422127.1	+	45	12098	c.12054C>A	c.(12052-12054)ctC>ctA	p.L4018L	OBSCN_ENST00000366707.4_Silent_p.L1652L|OBSCN_ENST00000284548.11_Silent_p.L4018L|OBSCN_ENST00000570156.2_Silent_p.L4975L|OBSCN_ENST00000366709.4_Silent_p.L1137L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4018	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTACAGCTCTTCCCTTGTG	0.632																																						dbGAP											0													54.0	65.0	61.0					1																	228494729		2186	4277	6463	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12054C>A	1.37:g.228494729C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L4018	ENST00000422127.1	37	c.12054	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		23	0.00	0	C	NM_052843		228494729	228494729	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	26	27.78	10	SNP	0.406	A
RBM20	282996	genome.wustl.edu	37	10	112544591	112544591	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr10:112544591G>A	ENST00000369519.3	+	5	1529	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	491					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						GCCCATTCCAGCAAGGTCATT	0.378																																						dbGAP											0													115.0	94.0	100.0					10																	112544591		692	1591	2283	-	-	-	SO:0001583	missense	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.1471G>A	10.37:g.112544591G>A	ENSP00000358532:p.Ala491Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.A491T	ENST00000369519.3	37	c.1471	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	3.085	-0.188162	0.06299	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	D	0.89552	-2.53	6.17	4.11	0.48088	.	.	.	.	.	T	0.73466	0.3590	N	0.03608	-0.345	0.23221	N	0.998091	B	0.12013	0.005	B	0.14023	0.01	T	0.60234	-0.7303	9	0.19590	T	0.45	.	8.5586	0.33496	0.2246:0.0:0.7754:0.0	.	491	Q5T481	RBM20_HUMAN	T	491	ENSP00000358532:A491T	ENSP00000358532:A491T	A	+	1	0	RBM20	112534581	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	1.884000	0.39668	1.598000	0.50083	0.655000	0.94253	GCA	RBM20	-	NULL	ENSG00000203867		0.378	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	104	0.00	0	G	NM_001134363		112544591	112544591	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	missense	65	38.10	40	SNP	1.000	A
RIF1	55183	genome.wustl.edu	37	2	152276813	152276813	+	Missense_Mutation	SNP	A	A	G			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr2:152276813A>G	ENST00000243326.5	+	6	1096	c.613A>G	c.(613-615)Act>Gct	p.T205A	RIF1_ENST00000430328.2_Missense_Mutation_p.T205A|RIF1_ENST00000433166.2_Missense_Mutation_p.T205A|RIF1_ENST00000453091.2_Missense_Mutation_p.T205A|RIF1_ENST00000428287.2_Missense_Mutation_p.T205A|RIF1_ENST00000444746.2_Missense_Mutation_p.T205A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCGGGGAGCAACTGCTCTGGA	0.438																																						dbGAP											0													113.0	96.0	102.0					2																	152276813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.613A>G	2.37:g.152276813A>G	ENSP00000243326:p.Thr205Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.T205A	ENST00000243326.5	37	c.613	CCDS2194.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.23|12.23	1.875698|1.875698	0.33162|0.33162	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.|T;T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;0.82;-0.1;-0.1	5.73|5.73	4.57|4.57	0.56435|0.56435	.|Armadillo-type fold (1);	.|0.099240	.|0.64402	.|D	.|0.000001	T|T	0.44953|0.44953	0.1318|0.1318	N|N	0.12182|0.12182	0.205|0.205	0.44694|0.44694	D|D	0.997681|0.997681	.|P;P	.|0.42375	.|0.56;0.778	.|B;B	.|0.42738	.|0.336;0.396	T|T	0.40270|0.40270	-0.9572|-0.9572	5|10	.|0.30854	.|T	.|0.27	-21.1564|-21.1564	11.1754|11.1754	0.48596|0.48596	0.9274:0.0:0.0725:0.0|0.9274:0.0:0.0725:0.0	.|.	.|205;205	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	S|A	196|205	.|ENSP00000390181:T205A;ENSP00000414615:T205A;ENSP00000415691:T205A;ENSP00000396865:T205A;ENSP00000243326:T205A;ENSP00000416123:T205A	.|ENSP00000243326:T205A	N|T	+|+	2|1	0|0	RIF1|RIF1	151985059|151985059	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.972000|0.972000	0.66771|0.66771	3.866000|3.866000	0.56040|0.56040	2.313000|2.313000	0.78055|0.78055	0.454000|0.454000	0.30748|0.30748	AAC|ACT	RIF1	-	pfam_Rif1_N,superfamily_ARM-type_fold	ENSG00000080345		0.438	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	82	0.00	0	A			152276813	152276813	+1	no_errors	ENST00000243326	ensembl	human	known	69_37n	missense	53	35.37	29	SNP	0.987	G
TCF20	6942	genome.wustl.edu	37	22	42609486	42609486	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr22:42609486G>C	ENST00000359486.3	-	1	1962	c.1826C>G	c.(1825-1827)tCc>tGc	p.S609C	TCF20_ENST00000335626.4_Missense_Mutation_p.S609C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCTTCCCGGGAGACAATCAC	0.547																																						dbGAP											0													87.0	84.0	85.0					22																	42609486		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1826C>G	22.37:g.42609486G>C	ENSP00000352463:p.Ser609Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.S609C	ENST00000359486.3	37	c.1826	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394864	0.62066	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.67698	-0.28;-0.28	6.17	6.17	0.99709	.	0.080085	0.53938	D	0.000045	T	0.72708	0.3494	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.69479	0.964;0.921	T	0.72669	-0.4223	10	0.48119	T	0.1	-15.0161	20.8794	0.99867	0.0:0.0:1.0:0.0	.	609;609	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	609	ENSP00000352463:S609C;ENSP00000335561:S609C	ENSP00000335561:S609C	S	-	2	0	TCF20	40939430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.165000	0.77544	2.941000	0.99782	0.655000	0.94253	TCC	TCF20	-	NULL	ENSG00000100207		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	23	0.00	0	G	NM_181492		42609486	42609486	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	C
UNC13C	440279	genome.wustl.edu	37	15	54847664	54847664	+	Missense_Mutation	SNP	C	C	T	rs186728296		TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr15:54847664C>T	ENST00000260323.11	+	28	5912	c.5912C>T	c.(5911-5913)aCg>aTg	p.T1971M	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1969M|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1971M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1971	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGGGTCTGACGCCAAGACAA	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18636	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													79.0	77.0	77.0					15																	54847664		1956	4131	6087	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5912C>T	15.37:g.54847664C>T	ENSP00000260323:p.Thr1971Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T1971M	ENST00000260323.11	37	c.5912	CCDS45264.1	15	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.7	4.194964	0.78902	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75589	-0.95;-0.95;-0.95	5.59	4.62	0.57501	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.302258	0.35677	N	0.003052	D	0.84754	0.5542	M	0.77103	2.36	0.45108	D	0.998127	D	0.76494	0.999	D	0.64595	0.927	D	0.86755	0.1963	10	0.87932	D	0	.	15.0587	0.71936	0.0:0.8578:0.1422:0.0	.	1971	Q8NB66	UN13C_HUMAN	M	1971;1971;1969	ENSP00000260323:T1971M;ENSP00000438156:T1971M;ENSP00000442569:T1969M	ENSP00000260323:T1971M	T	+	2	0	UNC13C	52634956	0.997000	0.39634	0.989000	0.46669	0.912000	0.54170	3.494000	0.53273	2.629000	0.89072	0.591000	0.81541	ACG	UNC13C	-	pfam_Munc13_subgr_dom-2	ENSG00000137766		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	62	0.00	0	C	NM_173166		54847664	54847664	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	0.995	T
ZNF479	90827	genome.wustl.edu	37	7	57187569	57187569	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DM-01A-11D-A17W-09	TCGA-GM-A2DM-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d3185219-142d-415d-bb9d-16aa14b183dc	fa7da8f4-5dd2-46fd-97d1-5f43b1c34fc5	g.chr7:57187569T>C	ENST00000331162.4	-	5	1823	c.1553A>G	c.(1552-1554)gAg>gGg	p.E518G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTAGGGTTTCTCTCCAGTGTG	0.343																																						dbGAP											0													35.0	35.0	35.0					7																	57187569		1996	4189	6185	-	-	-	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1553A>G	7.37:g.57187569T>C	ENSP00000333776:p.Glu518Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E518G	ENST00000331162.4	37	c.1553	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	-	15.88	2.964137	0.53507	.	.	ENSG00000185177	ENST00000331162	T	0.01203	5.18	0.888	0.888	0.19206	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	M	0.77616	2.38	0.26238	N	0.978917	D	0.54047	0.964	P	0.54499	0.754	T	0.33007	-0.9885	9	0.59425	D	0.04	.	5.7101	0.17931	0.0:0.0:0.0:1.0	.	518	Q96JC4	ZN479_HUMAN	G	518	ENSP00000333776:E518G	ENSP00000333776:E518G	E	-	2	0	ZNF479	57191511	0.976000	0.34144	0.542000	0.28115	0.513000	0.34164	2.776000	0.47709	0.330000	0.23485	0.321000	0.21382	GAG	ZNF479	-	pfscan_Znf_C2H2	ENSG00000185177		0.343	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	81	0.00	0	T	XM_291202		57187569	57187569	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	missense	58	44.23	46	SNP	1.000	C
