#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
AJAP1	55966	genome.wustl.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	CCA	CCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						dbGAP											1	Insertion - In frame(1)	large_intestine(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y229	In_Frame_Del	DEL	NULL	p.T222in_frame_del	ENST00000378191.4	37	c.653_655	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	13	0.00	0	CCA	NM_018836		4772583	4772585	+1	no_errors	ENST00000378190	ensembl	human	known	69_37n	in_frame_del	11	21.43	3	DEL	0.919:0.855:0.873	-
BCL2L11	10018	genome.wustl.edu	37	2	111886207	111886207	+	Intron	SNP	T	T	A			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr2:111886207T>A	ENST00000393256.3	+	2	667				BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000357757.2_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000337565.5_Missense_Mutation_p.V73D|BCL2L11_ENST00000405953.1_Missense_Mutation_p.V73D	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						ttaacagtagtcatcctagag	0.383																																						dbGAP											0													112.0	116.0	115.0					2																	111886207		1327	2309	3636	-	-	-	SO:0001627	intron_variant	0			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.394+4491T>A	2.37:g.111886207T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	pfam_Apoptosis_Bim_N	p.V73D	ENST00000393256.3	37	c.218	CCDS2089.1	2	.	.	.	.	.	.	.	.	.	.	T	6.134	0.392926	0.11638	.	.	ENSG00000153094	ENST00000337565;ENST00000405953	.	.	.	1.69	0.584	0.17422	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.20405	-1.0276	7	0.46703	T	0.11	.	3.4804	0.07601	0.0:0.6655:0.0:0.3345	.	73	O43521-17	.	D	73	.	ENSP00000338374:V73D	V	+	2	0	BCL2L11	111602678	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-0.190000	0.09615	0.177000	0.19895	0.383000	0.25322	GTC	BCL2L11	-	NULL	ENSG00000153094		0.383	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	41	0.00	0	T			111886207	111886207	+1	no_errors	ENST00000337565	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	0.007	A
CSPG4	1464	genome.wustl.edu	37	15	75982085	75982085	+	Missense_Mutation	SNP	C	C	T	rs79463888	byFrequency	TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr15:75982085C>T	ENST00000308508.5	-	3	1413	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	441	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGCCCCCCTCGGCCACCACC	0.637																																						dbGAP											0													43.0	42.0	43.0					15																	75982085		2197	4292	6489	-	-	-	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1321G>A	15.37:g.75982085C>T	ENSP00000312506:p.Glu441Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.E441K	ENST00000308508.5	37	c.1321	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	18.26	3.584924	0.65992	.	.	ENSG00000173546	ENST00000308508	T	0.31510	1.49	5.26	5.26	0.73747	.	0.170667	0.41001	D	0.000974	T	0.48642	0.1511	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	P	0.56278	0.795	T	0.52041	-0.8628	10	0.59425	D	0.04	.	11.3564	0.49617	0.0:0.9168:0.0:0.0831	.	441	Q6UVK1	CSPG4_HUMAN	K	441	ENSP00000312506:E441K	ENSP00000312506:E441K	E	-	1	0	CSPG4	73769140	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	4.634000	0.61325	2.463000	0.83235	0.555000	0.69702	GAG	CSPG4	-	NULL	ENSG00000173546		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	9	0.00	0	C	NM_001897		75982085	75982085	-1	no_errors	ENST00000308508	ensembl	human	known	69_37n	missense	2	60.00	3	SNP	0.996	T
DCC	1630	genome.wustl.edu	37	18	50278619	50278619	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr18:50278619C>G	ENST00000442544.2	+	2	903	c.287C>G	c.(286-288)tCt>tGt	p.S96C	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	96	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAAATGGGTCTCTGCTGATA	0.458																																						dbGAP											0													137.0	126.0	130.0					18																	50278619		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.287C>G	18.37:g.50278619C>G	ENSP00000389140:p.Ser96Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S96C	ENST00000442544.2	37	c.287	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412096	0.42817	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.02525	4.26	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.189675	0.39341	N	0.001397	T	0.24198	0.0586	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11616	-1.0580	10	0.87932	D	0	.	18.2124	0.89874	0.0:1.0:0.0:0.0	.	96	P43146	DCC_HUMAN	C	96;29	ENSP00000389140:S96C	ENSP00000304146:S29C	S	+	2	0	DCC	48532617	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.500000	0.81588	2.589000	0.87451	0.655000	0.94253	TCT	DCC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000187323		0.458	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	44	0.00	0	C	NM_005215		50278619	50278619	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	G
DSEL	92126	genome.wustl.edu	37	18	65178268	65178268	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr18:65178268A>T	ENST00000310045.7	-	2	5081	c.3608T>A	c.(3607-3609)cTa>cAa	p.L1203Q	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1193					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTTCAATTAGTTTAATTTC	0.373																																						dbGAP											0													106.0	103.0	104.0					18																	65178268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3608T>A	18.37:g.65178268A>T	ENSP00000310565:p.Leu1203Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RH1|Q6P5Z3	Splice_Site	SNP	-	NULL	ENST00000310045.7	37	c.NULL	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346642	0.41599	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.81579	-1.51	5.44	4.26	0.50523	Sulfotransferase domain (1);	0.100908	0.41500	U	0.000873	T	0.74527	0.3728	L	0.52759	1.655	0.32822	D	0.502892	P	0.35551	0.509	B	0.34652	0.187	T	0.79298	-0.1861	10	0.52906	T	0.07	-3.0595	10.9929	0.47559	0.7521:0.0:0.0:0.2479	.	1193	Q8IZU8	DSEL_HUMAN	Q	1203;1193	ENSP00000310565:L1203Q	ENSP00000310565:L1203Q	L	-	2	0	DSEL	63329248	0.990000	0.36364	0.576000	0.28549	0.965000	0.64279	3.446000	0.52928	0.978000	0.38470	0.533000	0.62120	CTA	CTD-2541J13.2	-	-	ENSG00000263424		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263424	Clone_based_vega_gene	protein_coding	OTTHUMT00000256221.1	49	0.00	0	A	NM_032160		65178268	65178268	+1	no_errors	ENST00000583493	ensembl	human	known	69_37n	splice_site	53	22.06	15	SNP	0.672	T
FAAH2	158584	genome.wustl.edu	37	X	57358083	57358083	+	Silent	SNP	A	A	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chrX:57358083A>G	ENST00000374900.4	+	4	585	c.465A>G	c.(463-465)acA>acG	p.T155T		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	155						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTGCCAAAACAGATGCCACTG	0.398										HNSCC(52;0.14)																												dbGAP											0													125.0	97.0	107.0					X																	57358083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.465A>G	X.37:g.57358083A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VT2|Q96N98	Silent	SNP	pfam_Amidase,superfamily_Amidase_dom	p.T155	ENST00000374900.4	37	c.465	CCDS14375.1	X																																																																																			FAAH2	-	pfam_Amidase,superfamily_Amidase_dom	ENSG00000165591		0.398	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	38	0.00	0	A	NM_174912		57358083	57358083	+1	no_errors	ENST00000374900	ensembl	human	known	69_37n	silent	43	25.86	15	SNP	0.766	G
GOLGA6L6	727832	genome.wustl.edu	37	15	20743947	20743947	+	Silent	SNP	A	A	G	rs200077393	byFrequency	TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr15:20743947A>G	ENST00000427390.2	-	3	435	c.345T>C	c.(343-345)caT>caC	p.H115H		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	115										NS(3)|endometrium(4)|kidney(1)|skin(3)	11						CCTGATGTTGATGGCTTGCCT	0.512													G|||	1161	0.231829	0.1626	0.3069	5008	,	,		11413	0.2401		0.2356	False		,,,				2504	0.2597					dbGAP											0													47.0	35.0	39.0					15																	20743947		470	859	1329	-	-	-	SO:0001819	synonymous_variant	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.345T>C	15.37:g.20743947A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTC0	Silent	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.H115	ENST00000427390.2	37	c.345	CCDS45184.1	15																																																																																			GOLGA6L6	-	NULL	ENSG00000215405		0.512	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	33	0.00	0	A	NM_001145004		20743947	20743947	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	silent	23	20.69	6	SNP	0.009	G
GRIK5	2901	genome.wustl.edu	37	19	42569462	42569462	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr19:42569462C>T	ENST00000262895.3	-	2	156	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	GRIK5_ENST00000593562.1_Missense_Mutation_p.G53R|GRIK5_ENST00000301218.4_Missense_Mutation_p.G53R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	53					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TCGATGATCCCGTTGATCTGC	0.627																																						dbGAP											0													74.0	65.0	68.0					19																	42569462		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.157G>A	19.37:g.42569462C>T	ENSP00000262895:p.Gly53Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G53R	ENST00000262895.3	37	c.157	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	c	4.803	0.149247	0.09185	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.19250	2.16;2.16	4.61	4.61	0.57282	Extracellular ligand-binding receptor (1);	0.348626	0.29730	N	0.011354	T	0.03263	0.0095	N	0.00128	-2.045	0.36001	D	0.837388	B	0.11235	0.004	B	0.13407	0.009	T	0.35724	-0.9777	10	0.02654	T	1	.	6.8895	0.24222	0.0:0.8107:0.0:0.1893	.	53	Q16478	GRIK5_HUMAN	R	53	ENSP00000262895:G53R;ENSP00000301218:G53R	ENSP00000262895:G53R	G	-	1	0	GRIK5	47261302	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.401000	0.34589	2.395000	0.81488	0.632000	0.83419	GGG	GRIK5	-	pfam_ANF_lig-bd_rcpt	ENSG00000105737		0.627	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	11	0.00	0	C			42569462	42569462	-1	no_errors	ENST00000301218	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	T
MTG2	26164	genome.wustl.edu	37	20	60772932	60772932	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr20:60772932C>G	ENST00000370823.3	+	4	395	c.377C>G	c.(376-378)tCg>tGg	p.S126W	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	126	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.S126L(1)									AAGTCCCTGTCGTCGGTCCTG	0.542																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											137.0	114.0	122.0					20																	60772932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.377C>G	20.37:g.60772932C>G	ENSP00000359859:p.Ser126Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.S126W	ENST00000370823.3	37	c.377	CCDS13492.1	20	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074232	0.55646	.	.	ENSG00000101181	ENST00000370823;ENST00000448254	T;T	0.22336	1.96;1.96	5.51	5.51	0.81932	GTP1/OBG subdomain (3);	0.161520	0.56097	D	0.000029	T	0.52901	0.1763	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74023	0.982;0.941	T	0.59182	-0.7502	10	0.62326	D	0.03	-24.5989	17.2039	0.86913	0.0:1.0:0.0:0.0	.	126;126	Q5JXJ0;Q9H4K7	.;GTPB5_HUMAN	W	126	ENSP00000359859:S126W;ENSP00000414693:S126W	ENSP00000359859:S126W	S	+	2	0	GTPBP5	60206327	0.960000	0.32886	0.735000	0.30896	0.384000	0.30261	4.492000	0.60334	2.592000	0.87571	0.650000	0.86243	TCG	GTPBP5	-	pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA	ENSG00000101181		0.542	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	HGNC	protein_coding	OTTHUMT00000079989.1	28	0.00	0	C	NM_015666		60772932	60772932	+1	no_errors	ENST00000370823	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.958	G
HGFAC	3083	genome.wustl.edu	37	4	3446056	3446056	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr4:3446056delC	ENST00000382774.3	+	6	732	c.617delC	c.(616-618)accfs	p.T206fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.T206fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	206	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTTGATGAGACCCGCTACGAG	0.687																																						dbGAP											0													14.0	17.0	16.0					4																	3446056		2164	4282	6446	-	-	-	SO:0001589	frameshift_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.617delC	4.37:g.3446056delC	ENSP00000372224:p.Thr206fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.R207fs	ENST00000382774.3	37	c.617	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1	ENSG00000109758		0.687	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	19	0.00	0	C			3446056	3446056	+1	no_errors	ENST00000382774	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.602	-
HUWE1	10075	genome.wustl.edu	37	X	53562452	53562452	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chrX:53562452A>C	ENST00000342160.3	-	80	12999	c.12542T>G	c.(12541-12543)tTt>tGt	p.F4181C	HUWE1_ENST00000262854.6_Missense_Mutation_p.F4181C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4181	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACAAACTCCAAACTCTTGGAC	0.443																																						dbGAP											0													143.0	109.0	121.0					X																	53562452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12542T>G	X.37:g.53562452A>C	ENSP00000340648:p.Phe4181Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.F4181C	ENST00000342160.3	37	c.12542	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275889	0.40294	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.46063	0.88;0.88	5.39	5.39	0.77823	HECT (4);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.81459	-0.0923	10	0.87932	D	0	.	13.5866	0.61935	1.0:0.0:0.0:0.0	.	4181;4165	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	C	4181	ENSP00000340648:F4181C;ENSP00000262854:F4181C	ENSP00000262854:F4181C	F	-	2	0	HUWE1	53579177	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.654000	0.91092	1.920000	0.55613	0.486000	0.48141	TTT	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	51	0.00	0	A	XM_497119		53562452	53562452	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	73	23.16	22	SNP	1.000	C
IGFBP6	3489	genome.wustl.edu	37	12	53494525	53494525	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr12:53494525C>A	ENST00000301464.3	+	2	637	c.364C>A	c.(364-366)Ccc>Acc	p.P122T	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Missense_Mutation_p.P120T|IGFBP6_ENST00000549628.1_3'UTR	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	122					cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GGAGAGTAAACCCCAAGCAGG	0.572																																					Esophageal Squamous(83;1656 1718 30141 34380)	dbGAP											0													102.0	99.0	100.0					12																	53494525		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.364C>A	12.37:g.53494525C>A	ENSP00000301464:p.Pro122Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14492	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-6	p.P122T	ENST00000301464.3	37	c.364	CCDS8846.1	12	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299815	0.05532	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.15017	2.46;2.52	4.71	2.88	0.33553	.	0.425771	0.24904	N	0.034677	T	0.08846	0.0219	N	0.14661	0.345	0.22435	N	0.999107	P	0.39060	0.657	B	0.37650	0.255	T	0.24693	-1.0153	10	0.23891	T	0.37	-13.2764	7.6779	0.28497	0.0:0.8049:0.0:0.1951	.	122	P24592	IBP6_HUMAN	T	120;122	ENSP00000448953:P120T;ENSP00000301464:P122T	ENSP00000301464:P122T	P	+	1	0	IGFBP6	51780792	0.645000	0.27286	0.953000	0.39169	0.052000	0.14988	1.351000	0.34022	0.712000	0.32039	-0.137000	0.14449	CCC	IGFBP6	-	NULL	ENSG00000167779		0.572	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFBP6	HGNC	protein_coding	OTTHUMT00000405813.1	18	0.00	0	C			53494525	53494525	+1	no_errors	ENST00000301464	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.784	A
IL1RAPL1	11141	genome.wustl.edu	37	X	29935696	29935696	+	Silent	SNP	T	T	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chrX:29935696T>G	ENST00000378993.1	+	7	1567	c.894T>G	c.(892-894)gtT>gtG	p.V298V	IL1RAPL1_ENST00000302196.4_Silent_p.V298V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	298	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAAATCGAGTTTGGGAAAGTG	0.333																																						dbGAP											0													60.0	59.0	59.0					X																	29935696		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.894T>G	X.37:g.29935696T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like	p.V298	ENST00000378993.1	37	c.894	CCDS14218.1	X																																																																																			IL1RAPL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000169306		0.333	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	21	0.00	0	T	NM_014271		29935696	29935696	+1	no_errors	ENST00000302196	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.998	G
MAML1	9794	genome.wustl.edu	37	5	179200977	179200977	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr5:179200977A>T	ENST00000292599.3	+	5	2413	c.2150A>T	c.(2149-2151)aAt>aTt	p.N717I	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCTGGGAATCTGATGCCA	0.582																																						dbGAP											0													103.0	103.0	103.0					5																	179200977		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2150A>T	5.37:g.179200977A>T	ENSP00000292599:p.Asn717Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.N717I	ENST00000292599.3	37	c.2150	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	A	8.787	0.929683	0.18131	.	.	ENSG00000161021	ENST00000292599	T	0.47869	0.83	4.37	-2.62	0.06152	.	0.423293	0.23773	N	0.044716	T	0.29126	0.0724	L	0.40543	1.245	0.20196	N	0.999926	B	0.32188	0.359	B	0.27500	0.08	T	0.14476	-1.0471	10	0.72032	D	0.01	-3.5273	5.4002	0.16291	0.5092:0.265:0.2258:0.0	.	717	Q92585	MAML1_HUMAN	I	717	ENSP00000292599:N717I	ENSP00000292599:N717I	N	+	2	0	MAML1	179133583	0.141000	0.22595	0.029000	0.17559	0.359000	0.29487	0.084000	0.14891	-0.308000	0.08792	0.379000	0.24179	AAT	MAML1	-	NULL	ENSG00000161021		0.582	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	27	0.00	0	A	NM_014757		179200977	179200977	+1	no_errors	ENST00000292599	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.108	T
NMBR	4829	genome.wustl.edu	37	6	142396871	142396871	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr6:142396871T>A	ENST00000258042.1	-	3	1227	c.1087A>T	c.(1087-1089)Aca>Tca	p.T363S	NMBR_ENST00000480652.1_Intron	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	363					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTCAGAGATGTCATACGCACC	0.463																																						dbGAP											0													127.0	116.0	119.0					6																	142396871		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.1087A>T	6.37:g.142396871T>A	ENSP00000258042:p.Thr363Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL38|Q5VUK8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T363S	ENST00000258042.1	37	c.1087	CCDS5196.1	6	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287163	0.59867	.	.	ENSG00000135577	ENST00000258042	T	0.68331	-0.32	5.28	5.28	0.74379	.	0.145143	0.64402	D	0.000008	T	0.50309	0.1608	M	0.64567	1.98	0.58432	D	0.999999	B	0.27971	0.196	B	0.31547	0.132	T	0.52859	-0.8519	10	0.15952	T	0.53	-14.2443	15.5131	0.75798	0.0:0.0:0.0:1.0	.	363	P28336	NMBR_HUMAN	S	363	ENSP00000258042:T363S	ENSP00000258042:T363S	T	-	1	0	NMBR	142438564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.248000	0.78268	2.120000	0.65058	0.533000	0.62120	ACA	NMBR	-	prints_NeuroB_rcpt	ENSG00000135577		0.463	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMBR	HGNC	protein_coding	OTTHUMT00000042479.1	20	0.00	0	T			142396871	142396871	-1	no_errors	ENST00000258042	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	A
PCDH10	57575	genome.wustl.edu	37	4	134073920	134073920	+	Silent	SNP	C	C	T			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr4:134073920C>T	ENST00000264360.5	+	1	3451	c.2625C>T	c.(2623-2625)tcC>tcT	p.S875S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	875					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCATTTTGTCCAACGAGGTAA	0.552																																						dbGAP											0													79.0	78.0	79.0					4																	134073920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2625C>T	4.37:g.134073920C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S875	ENST00000264360.5	37	c.2625	CCDS34063.1	4																																																																																			PCDH10	-	NULL	ENSG00000138650		0.552	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	47	0.00	0	C	NM_032961		134073920	134073920	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	silent	35	25.00	12	SNP	1.000	T
PCDH19	57526	genome.wustl.edu	37	X	99662058	99662058	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chrX:99662058C>G	ENST00000373034.4	-	1	3213	c.1538G>C	c.(1537-1539)gGc>gCc	p.G513A	PCDH19_ENST00000255531.7_Missense_Mutation_p.G513A|PCDH19_ENST00000420881.2_Missense_Mutation_p.G513A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> R (in EIEE9). {ECO:0000269|PubMed:21480887}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587																																						dbGAP											0													99.0	100.0	100.0					X																	99662058		2171	4259	6430	-	-	-	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1538G>C	X.37:g.99662058C>G	ENSP00000362125:p.Gly513Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G513A	ENST00000373034.4	37	c.1538	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077827	0.55753	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	D;D;D	0.91407	-2.84;-2.84;-2.84	5.64	5.64	0.86602	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98521	1.0623	10	0.87932	D	0	.	18.6745	0.91524	0.0:1.0:0.0:0.0	.	513;513;513	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	513	ENSP00000400327:G513A;ENSP00000362125:G513A;ENSP00000255531:G513A	ENSP00000255531:G513A	G	-	2	0	PCDH19	99548714	1.000000	0.71417	0.489000	0.27452	0.607000	0.37147	7.818000	0.86416	2.354000	0.79902	0.513000	0.50165	GGC	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000165194		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	29	0.00	0	C	NM_020766		99662058	99662058	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	G
PLAA	9373	genome.wustl.edu	37	9	26907965	26907965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr9:26907965delA	ENST00000397292.3	-	13	2106	c.1689delT	c.(1687-1689)cctfs	p.P563fs	PLAA_ENST00000520884.1_Frame_Shift_Del_p.P563fs	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	563	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCTTCTCTTCAGGTGCAGTTC	0.358																																					Melanoma(175;2670 2735 14091 35526)	dbGAP											0													117.0	111.0	113.0					9																	26907965		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1689delT	9.37:g.26907965delA	ENSP00000380460:p.Pro563fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Frame_Shift_Del	DEL	pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E564fs	ENST00000397292.3	37	c.1689	CCDS35000.1	9																																																																																			PLAA	-	pfam_PUL,superfamily_ARM-type_fold	ENSG00000137055		0.358	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAA	HGNC	protein_coding	OTTHUMT00000051958.2	42	0.00	0	A	NM_001031689		26907965	26907965	-1	no_errors	ENST00000397292	ensembl	human	known	69_37n	frame_shift_del	50	29.73	22	DEL	0.999	-
PLCG1	5335	genome.wustl.edu	37	20	39798164	39798164	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr20:39798164T>A	ENST00000373271.1	+	23	3053	c.2648T>A	c.(2647-2649)aTt>aAt	p.I883N	PLCG1_ENST00000373272.2_Missense_Mutation_p.I883N|PLCG1_ENST00000244007.3_Missense_Mutation_p.I883N	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	883					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCTTGTCAGATTGGTGAGCTC	0.552																																						dbGAP											0													183.0	175.0	178.0					20																	39798164		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2648T>A	20.37:g.39798164T>A	ENSP00000362368:p.Ile883Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.I883N	ENST00000373271.1	37	c.2648	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	T	32	5.157397	0.94686	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.70399	-0.48;-0.48;-0.48	5.66	5.66	0.87406	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.049858	0.85682	D	0.000000	T	0.81791	0.4897	M	0.65498	2.005	0.80722	D	1	D;D;P;D	0.60160	0.987;0.972;0.955;0.978	D;P;P;P	0.64042	0.921;0.804;0.707;0.836	D	0.83946	0.0314	10	0.87932	D	0	.	15.8862	0.79251	0.0:0.0:0.0:1.0	.	883;459;883;883	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	N	883	ENSP00000244007:I883N;ENSP00000362368:I883N;ENSP00000362369:I883N	ENSP00000244007:I883N	I	+	2	0	PLCG1	39231578	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.824000	0.86668	2.160000	0.67779	0.533000	0.62120	ATT	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma	ENSG00000124181		0.552	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	60	0.00	0	T	NM_182811		39798164	39798164	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	missense	77	23.76	24	SNP	1.000	A
SHROOM4	57477	genome.wustl.edu	37	X	50377007	50377007	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chrX:50377007T>G	ENST00000289292.7	-	4	2349	c.2066A>C	c.(2065-2067)cAg>cCg	p.Q689P	SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q689P|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q573P			Q9ULL8	SHRM4_HUMAN	shroom family member 4	689					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCCAGGCCTCTGGCCAGGGCT	0.567																																						dbGAP											0													44.0	37.0	39.0					X																	50377007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2066A>C	X.37:g.50377007T>G	ENSP00000289292:p.Gln689Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q689P	ENST00000289292.7	37	c.2066	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	T	3.495	-0.103077	0.06967	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15718	2.82;2.82;2.4	6.08	-0.353	0.12594	.	0.561987	0.17533	N	0.170815	T	0.14141	0.0342	M	0.65975	2.015	0.25795	N	0.984573	B	0.26195	0.144	B	0.14023	0.01	T	0.17228	-1.0376	10	0.32370	T	0.25	.	5.1179	0.14845	0.1263:0.2862:0.0:0.5875	.	689	Q9ULL8	SHRM4_HUMAN	P	689;689;573	ENSP00000289292:Q689P;ENSP00000365188:Q689P;ENSP00000421450:Q573P	ENSP00000289292:Q689P	Q	-	2	0	SHROOM4	50393747	0.002000	0.14202	0.027000	0.17364	0.761000	0.43186	0.302000	0.19192	-0.181000	0.10619	0.486000	0.48141	CAG	SHROOM4	-	NULL	ENSG00000158352		0.567	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	28	0.00	0	T	NM_020717		50377007	50377007	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	0.536	G
SLC5A5	6528	genome.wustl.edu	37	19	17986867	17986867	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr19:17986867G>A	ENST00000222248.3	+	5	997	c.650G>A	c.(649-651)cGc>cAc	p.R217H		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	217					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCGGGCCCCGCCAGGTGCTC	0.602																																					Melanoma(65;1008 1708 7910 46650)	dbGAP											0													237.0	183.0	201.0					19																	17986867		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.650G>A	19.37:g.17986867G>A	ENSP00000222248:p.Arg217His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R217H	ENST00000222248.3	37	c.650	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465497	0.43839	.	.	ENSG00000105641	ENST00000222248	D	0.87966	-2.32	5.0	-4.63	0.03359	.	1.933400	0.02510	N	0.091418	T	0.75517	0.3860	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.62383	-0.6866	10	0.42905	T	0.14	.	6.2051	0.20598	0.3801:0.3388:0.2811:0.0	.	217	Q92911	SC5A5_HUMAN	H	217	ENSP00000222248:R217H	ENSP00000222248:R217H	R	+	2	0	SLC5A5	17847867	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.289000	0.08365	-0.597000	0.05813	-0.339000	0.08088	CGC	SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	64	0.00	0	G			17986867	17986867	+1	no_errors	ENST00000222248	ensembl	human	known	69_37n	missense	97	20.49	25	SNP	0.000	A
TMBIM6	7009	genome.wustl.edu	37	12	50136033	50136033	+	Intron	SNP	C	C	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr12:50136033C>G	ENST00000267115.5	+	1	55				TMBIM6_ENST00000423828.1_Silent_p.P38P|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Silent_p.P38P	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGGGCGGCCCCGCTCTTTTCG	0.602																																						dbGAP											0													27.0	31.0	30.0					12																	50136033		1894	4097	5991	-	-	-	SO:0001627	intron_variant	0			X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.-31+639C>G	12.37:g.50136033C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5M4|F8W034|O14938|Q643A7|Q96J50	Silent	SNP	pfam_Bax_inhibitor_1-related	p.P38	ENST00000267115.5	37	c.114	CCDS31797.1	12																																																																																			TMBIM6	-	NULL	ENSG00000139644		0.602	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMBIM6	HGNC	protein_coding	OTTHUMT00000405289.1	12	0.00	0	C	NM_003217		50136033	50136033	+1	no_errors	ENST00000423828	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	0.015	G
TMEM181	57583	genome.wustl.edu	37	6	159029468	159029468	+	Silent	SNP	G	G	C			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr6:159029468G>C	ENST00000367090.3	+	9	1199	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	396					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCTTCTGGCTGTGCGTGTACC	0.627																																						dbGAP											0													141.0	138.0	139.0					6																	159029468		2128	4256	6384	-	-	-	SO:0001819	synonymous_variant	0			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1188G>C	6.37:g.159029468G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTU1	Silent	SNP	NULL	p.L396	ENST00000367090.3	37	c.1188	CCDS43520.1	6																																																																																			TMEM181	-	NULL	ENSG00000146433		0.627	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM181	HGNC	protein_coding	OTTHUMT00000042873.1	56	0.00	0	G	NM_020823		159029468	159029468	+1	no_errors	ENST00000367090	ensembl	human	known	69_37n	silent	62	18.42	14	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr17:7578556T>G	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGGAGTACTGTAGGAAGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											41.0	42.0	41.0					17																	7578556		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-2A>C	17.37:g.7578556T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e4-2	ENST00000269305.4	37	c.376-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342862	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	25	0.00	0	T	NM_000546	Intron	7578556	7578556	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	17	29.17	7	SNP	1.000	G
WHSC1L1	54904	genome.wustl.edu	37	8	38162915	38162915	+	Missense_Mutation	SNP	C	C	T	rs199766344		TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr8:38162915C>T	ENST00000317025.8	-	13	2808	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R764H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R764H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	764					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AACAGAACAACGCTTCACATC	0.413			T	NUP98	AML																																	dbGAP		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													97.0	90.0	92.0					8																	38162915		1933	4135	6068	-	-	-	SO:0001583	missense	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2291G>A	8.37:g.38162915C>T	ENSP00000313983:p.Arg764His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R764H	ENST00000317025.8	37	c.2291	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.508072	0.96386	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.97598	-4.45;-4.45;-4.45	5.75	5.75	0.90469	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.49305	U	0.000144	D	0.98235	0.9416	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.98676	1.0690	10	0.59425	D	0.04	.	19.9392	0.97153	0.0:1.0:0.0:0.0	.	764;764;764	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	764;764;701;764	ENSP00000393284:R764H;ENSP00000313983:R764H;ENSP00000434730:R764H	ENSP00000313983:R764H	R	-	2	0	WHSC1L1	38282072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	CGT	WHSC1L1	-	smart_Znf_PHD	ENSG00000147548		0.413	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	45	0.00	0	C	NM_023034		38162915	38162915	-1	no_errors	ENST00000317025	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103297830	103297830	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr8:103297830T>C	ENST00000520539.1	-	39	6001	c.5395A>G	c.(5395-5397)Atg>Gtg	p.M1799V	UBR5_ENST00000220959.4_Missense_Mutation_p.M1799V|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.M1793V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1799					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATAAGGCCCATCAAGTCCGAG	0.433																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													122.0	114.0	117.0					8																	103297830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5395A>G	8.37:g.103297830T>C	ENSP00000429084:p.Met1799Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.M1799V	ENST00000520539.1	37	c.5395	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845191	0.51164	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.42131	0.98;0.98;0.98	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	L	0.29908	0.895	0.58432	D	0.999996	B;B	0.31435	0.323;0.323	B;B	0.41332	0.354;0.354	T	0.36939	-0.9727	10	0.49607	T	0.09	.	15.963	0.79945	0.0:0.0:0.0:1.0	.	1793;1799	E7EMW7;O95071	.;UBR5_HUMAN	V	1799;1799;1793	ENSP00000429084:M1799V;ENSP00000220959:M1799V;ENSP00000427819:M1793V	ENSP00000220959:M1799V	M	-	1	0	UBR5	103367006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.170000	0.68504	0.460000	0.39030	ATG	UBR5	-	NULL	ENSG00000104517		0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	34	0.00	0	T	NM_015902		103297830	103297830	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	37	17.39	8	SNP	1.000	C
ZNF275	10838	genome.wustl.edu	37	X	152612458	152612458	+	Silent	SNP	G	G	A			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chrX:152612458G>A	ENST00000421401.3	+	4	492	c.315G>A	c.(313-315)gaG>gaA	p.E105E	ZNF275_ENST00000440091.1_Silent_p.E135E|ZNF275_ENST00000370249.2_Silent_p.E52E|ZNF275_ENST00000370251.3_Silent_p.E105E			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTAAAGAGTGTGGGGACA	0.542																																						dbGAP											0													76.0	80.0	78.0					X																	152612458		2090	4201	6291	-	-	-	SO:0001819	synonymous_variant	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.315G>A	X.37:g.152612458G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE92	Silent	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.E135	ENST00000421401.3	37	c.405		X																																																																																			ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000063587		0.542	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		42	0.00	0	G	NM_001080485		152612458	152612458	+1	no_errors	ENST00000440091	ensembl	human	known	69_37n	silent	48	12.50	7	SNP	1.000	A
ZNF292	23036	genome.wustl.edu	37	6	87965080	87965080	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1II-01A-11D-A142-09	TCGA-E2-A1II-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	698c8a73-c6b6-45bd-82fc-9bd0f140729d	22909312-dbd6-43ff-b741-78400439c1b6	g.chr6:87965080T>G	ENST00000369577.3	+	8	1776	c.1733T>G	c.(1732-1734)tTt>tGt	p.F578C	ZNF292_ENST00000339907.4_Missense_Mutation_p.F573C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	578						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCAAAGAACTTTAATTCTAAA	0.368																																						dbGAP											0													72.0	67.0	69.0					6																	87965080		1845	4097	5942	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1733T>G	6.37:g.87965080T>G	ENSP00000358590:p.Phe578Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F578C	ENST00000369577.3	37	c.1733	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556976	0.45590	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.04194	3.68;3.68	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.047835	0.85682	D	0.000000	T	0.15478	0.0373	M	0.86573	2.825	0.47276	D	0.999379	D	0.89917	1.0	D	0.81914	0.995	T	0.00717	-1.1596	10	0.87932	D	0	.	10.7696	0.46314	0.1416:0.0:0.0:0.8584	.	578	O60281	ZN292_HUMAN	C	578;573	ENSP00000358590:F578C;ENSP00000342847:F573C	ENSP00000342847:F573C	F	+	2	0	ZNF292	88021799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.149000	0.71795	2.080000	0.62538	0.528000	0.53228	TTT	ZNF292	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188994		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	40	0.00	0	T	NM_015021		87965080	87965080	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	G
