#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CDH1	999	genome.wustl.edu	37	16	68842433	68842433	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr16:68842433delA	ENST00000261769.5	+	4	685	c.494delA	c.(493-495)gaafs	p.E165fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.E165fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	165	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)|p.E165_P170del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGCTGCCCAGAAAATGAAAAA	0.463			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(2)|Deletion - In frame(2)	breast(2)|lung(1)|stomach(1)											62.0	62.0	62.0					16																	68842433		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.494delA	16.37:g.68842433delA	ENSP00000261769:p.Glu165fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N166fs	ENST00000261769.5	37	c.494	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000039068		0.463	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	94	0.00	0	A	NM_004360		68842433	68842433	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	58	44.76	47	DEL	1.000	-
CDH1	999	genome.wustl.edu	37	16	68842438	68842439	+	In_Frame_Ins	INS	-	-	CCC			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr16:68842438_68842439insCCC	ENST00000261769.5	+	4	690_691	c.499_500insCCC	c.(499-501)gaa>gCCCaa	p.167_167E>AQ	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_In_Frame_Ins_p.167_167E>AQ	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	167	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)|p.E165_P170del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCAGAAAATGAAAAAGGCCCA	0.465			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(2)|Deletion - In frame(2)	breast(2)|lung(1)|stomach(1)																																								-	-	-	SO:0001652	inframe_insertion	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	Exception_encountered	16.37:g.68842438_68842439insCCC	ENSP00000261769:p.Glu167delinsAlaGln		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	In_Frame_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E167in_frame_insAQ	ENST00000261769.5	37	c.499_500	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000039068		0.465	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	90	0.00	0	-	NM_004360		68842438	68842439	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	in_frame_ins	43	51.69	46	INS	1.000:1.000	CCC
COMMD2	51122	genome.wustl.edu	37	3	149470040	149470042	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr3:149470040_149470042delGAA	ENST00000473414.1	-	2	154_156	c.100_102delTTC	c.(100-102)ttcdel	p.F34del		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	34										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGCGTCTCAGGAATTCCACAGCA	0.591																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.100_102delTTC	3.37:g.149470040_149470042delGAA	ENSP00000419475:p.Phe34del		Q561V4|Q9H3L5|Q9Y5V1	In_Frame_Del	DEL	pfam_HCaRG	p.F34in_frame_del	ENST00000473414.1	37	c.102_100	CCDS3145.1	3																																																																																			COMMD2	-	pfam_HCaRG	ENSG00000114744		0.591	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD2	HGNC	protein_coding	OTTHUMT00000356515.1	142	0.00	0	GAA	NM_016094		149470040	149470042	-1	no_errors	ENST00000473414	ensembl	human	known	69_37n	in_frame_del	57	45.05	50	DEL	1.000:1.000:1.000	-
CR1	1378	genome.wustl.edu	37	1	207793390	207793390	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr1:207793390C>G	ENST00000367049.4	+	43	7232	c.7232C>G	c.(7231-7233)cCt>cGt	p.P2411R	CR1_ENST00000367051.1_Missense_Mutation_p.P1961R|CR1_ENST00000367052.1_Missense_Mutation_p.P1961R|CR1_ENST00000400960.2_Missense_Mutation_p.P1961R|CR1_ENST00000367053.1_Missense_Mutation_p.P1961R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1961					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGGACCCTCCTCTGGCCAAA	0.483											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	91.0	89.0					1																	207793390		2110	4256	6366	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7232C>G	1.37:g.207793390C>G	ENSP00000356016:p.Pro2411Arg	2170	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P2411R	ENST00000367049.4	37	c.7232	CCDS44308.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.18|11.18	1.563284|1.563284	0.27915|0.27915	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18	4.6|4.6	2.66|2.66	0.31614|0.31614	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	T|T	0.74658|0.74658	0.3745|0.3745	M|M	0.84846|0.84846	2.72|2.72	0.22017|0.22017	N|N	0.99941|0.99941	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.967;0.998	T|T	0.63005|0.63005	-0.6733|-0.6733	5|9	.|0.11485	.|T	.|0.65	.|.	6.123|6.123	0.20164|0.20164	0.1835:0.719:0.0:0.0975|0.1835:0.719:0.0:0.0975	.|.	.|1961;2411	.|P17927;E9PDY4	.|CR1_HUMAN;.	V|R	584|1961;1961;1961;1961;2411	.|ENSP00000356019:P1961R;ENSP00000356018:P1961R;ENSP00000356020:P1961R;ENSP00000383744:P1961R;ENSP00000356016:P2411R	.|ENSP00000356016:P2411R	L|P	+|+	1|2	0|0	CR1|CR1	205860013|205860013	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.008000|0.008000	0.06430|0.06430	1.973000|1.973000	0.40550|0.40550	0.624000|0.624000	0.30286|0.30286	-0.187000|-0.187000	0.12897|0.12897	CTC|CCT	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	243	0.00	0	C	NM_000573		207793390	207793390	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	322	25.12	108	SNP	0.995	G
CXorf65	158830	genome.wustl.edu	37	X	70323923	70323923	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chrX:70323923G>T	ENST00000374251.5	-	6	514	c.466C>A	c.(466-468)Cgc>Agc	p.R156S		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	156			R -> H (in dbSNP:rs12009522).							breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GGAGACTTGCGAGTGGACTTC	0.438																																						dbGAP											0													97.0	78.0	85.0					X																	70323923		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.466C>A	X.37:g.70323923G>T	ENSP00000363369:p.Arg156Ser			Missense_Mutation	SNP	NULL	p.R156S	ENST00000374251.5	37	c.466	CCDS35324.1	X	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040320	0.35989	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.54479	0.72;0.57	4.01	4.01	0.46588	.	1.529460	0.04244	N	0.337471	T	0.48059	0.1479	N	0.19112	0.55	0.09310	N	1	D	0.57571	0.98	P	0.49799	0.622	T	0.40403	-0.9565	10	0.20519	T	0.43	-6.7296	10.6836	0.45830	0.0:0.0:1.0:0.0	.	156	A6NEN9	CX065_HUMAN	S	156;176	ENSP00000363369:R156S;ENSP00000411354:R176S	ENSP00000363369:R156S	R	-	1	0	CXorf65	70240648	0.190000	0.23276	0.065000	0.19835	0.020000	0.10135	1.758000	0.38410	1.986000	0.57962	0.600000	0.82982	CGC	CXorf65	-	NULL	ENSG00000204165		0.438	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf65	HGNC	protein_coding	OTTHUMT00000057089.2	216	0.00	0	G	NM_001025265		70323923	70323923	-1	no_errors	ENST00000374251	ensembl	human	known	69_37n	missense	275	37.64	166	SNP	0.088	T
EBF4	57593	genome.wustl.edu	37	20	2730518	2730518	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr20:2730518T>G	ENST00000609451.1	+	10	989	c.917T>G	c.(916-918)gTg>gGg	p.V306G	EBF4_ENST00000380648.4_Missense_Mutation_p.V302G			Q9BQW3	COE4_HUMAN	early B-cell factor 4	306	IPT/TIG.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GCCATCCGGGTGCAGACGCCC	0.692																																						dbGAP											0													28.0	32.0	31.0					20																	2730518		692	1591	2283	-	-	-	SO:0001583	missense	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.917T>G	20.37:g.2730518T>G	ENSP00000477023:p.Val306Gly		Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.V406G	ENST00000609451.1	37	c.1217		20	.	.	.	.	.	.	.	.	.	.	t	21.3	4.132843	0.77662	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.78246	-1.16;-1.16	3.98	3.98	0.46160	.	0.000000	0.39341	N	0.001398	D	0.87293	0.6141	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88577	0.3134	10	0.87932	D	0	-9.064	10.8709	0.46883	0.0:0.0:0.0:1.0	.	302	E9PEI2	.	G	302;306	ENSP00000370022:V302G;ENSP00000345030:V306G	ENSP00000345030:V306G	V	+	2	0	EBF4	2678518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.631000	0.83237	1.668000	0.50843	0.414000	0.27820	GTG	EBF4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000088881		0.692	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	46	0.00	0	T	XM_938882		2730518	2730518	+1	no_errors	ENST00000449079	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	G
FARSB	10056	genome.wustl.edu	37	2	223436667	223436667	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr2:223436667G>C	ENST00000281828.6	-	17	1956	c.1693C>G	c.(1693-1695)Cat>Gat	p.H565D	FARSB_ENST00000536361.1_Missense_Mutation_p.H466D|RP11-16P6.1_ENST00000568928.1_RNA	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	565					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ACGTCAGGATGAAGGACCCCA	0.488																																						dbGAP											0													75.0	66.0	69.0					2																	223436667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1693C>G	2.37:g.223436667G>C	ENSP00000281828:p.His565Asp		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.H565D	ENST00000281828.6	37	c.1693	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864003	0.91511	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	D	0.93677	0.6995	9	0.72032	D	0.01	-23.5153	19.7903	0.96454	0.0:0.0:1.0:0.0	.	565;565	A8K666;Q9NSD9	.;SYFB_HUMAN	D	565;466	.	ENSP00000281828:H565D	H	-	1	0	FARSB	223144911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.292000	0.96076	2.674000	0.91012	0.655000	0.94253	CAT	FARSB	-	tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.488	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	110	0.00	0	G	NM_005687		223436667	223436667	-1	no_errors	ENST00000281828	ensembl	human	known	69_37n	missense	82	43.84	64	SNP	1.000	C
IPO9	55705	genome.wustl.edu	37	1	201827586	201827587	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr1:201827586_201827587delAG	ENST00000361565.4	+	12	1302_1303	c.1233_1234delAG	c.(1231-1236)acagatfs	p.D412fs		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	412					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGTGGCCACAGATTTCCAGAA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1233_1234delAG	1.37:g.201827586_201827587delAG	ENSP00000354742:p.Asp412fs		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Frame_Shift_Del	DEL	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D412fs	ENST00000361565.4	37	c.1233_1234	CCDS1415.1	1																																																																																			IPO9	-	superfamily_ARM-type_fold	ENSG00000198700		0.441	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	16	0.00	0	AG	NM_018085		201827586	201827587	+1	no_errors	ENST00000361565	ensembl	human	known	69_37n	frame_shift_del	121	11.68	16	DEL	0.978:1.000	-
FMN2	56776	genome.wustl.edu	37	1	240370946	240370946	+	Missense_Mutation	SNP	C	C	T	rs71170718|rs193049501|rs562038978	byFrequency	TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr1:240370946C>T	ENST00000319653.9	+	5	3064	c.2834C>T	c.(2833-2835)cCg>cTg	p.P945L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	945	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCTCCTCCGCCCCCTCTA	0.692																																						dbGAP											0													21.0	27.0	25.0					1																	240370946		2142	4212	6354	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2834C>T	1.37:g.240370946C>T	ENSP00000318884:p.Pro945Leu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.P945L	ENST00000319653.9	37	c.2834	CCDS31069.2	1	236	0.10805860805860806	67	0.13617886178861788	32	0.08839779005524862	74	0.12937062937062938	63	0.08311345646437995	C	9.009	0.982061	0.18812	.	.	ENSG00000155816	ENST00000319653	T	0.57907	0.37	4.22	2.27	0.28462	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.00440	0.0014	M	0.75150	2.29	0.58432	P	2.9999999999752447E-6	B	0.19200	0.034	B	0.18561	0.022	T	0.08166	-1.0735	7	.	.	.	.	3.981	0.09495	0.2935:0.4931:0.1289:0.0845	.	945	Q9NZ56	FMN2_HUMAN	L	945	ENSP00000318884:P945L	.	P	+	2	0	FMN2	238437569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.261000	0.18442	0.504000	0.28082	0.479000	0.44913	CCG	FMN2	-	pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	29	0.00	0	C	XM_371352		240370946	240370946	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	55	25.68	19	SNP	0.003	T
MUC16	94025	genome.wustl.edu	37	19	9018133	9018133	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr19:9018133C>A	ENST00000397910.4	-	25	38008	c.37805G>T	c.(37804-37806)aGg>aTg	p.R12602M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12604	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTCTCACCTGAGCAAGGT	0.512																																						dbGAP											0													137.0	116.0	123.0					19																	9018133		1969	4145	6114	-	-	-	SO:0001630	splice_region_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37805+1G>T	19.37:g.9018133C>A			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R12602M	ENST00000397910.4	37	c.37805	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	6.800	0.516708	0.13005	.	.	ENSG00000181143	ENST00000397910	T	0.36520	1.25	1.86	1.86	0.25419	.	.	.	.	.	T	0.60907	0.2305	M	0.89715	3.055	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.70197	-0.4938	7	.	.	.	.	7.2019	0.25885	0.0:1.0:0.0:0.0	.	12602	B5ME49	.	M	12602	ENSP00000381008:R12602M	.	R	-	2	0	MUC16	8879133	1.000000	0.71417	0.788000	0.31933	0.025000	0.11179	1.675000	0.37555	1.336000	0.45506	0.195000	0.17529	AGG	MUC16	-	pfam_SEA	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	848	0.00	0	C	NM_024690	Missense_Mutation	9018133	9018133	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	291	44.99	238	SNP	0.848	A
MUC20	200958	genome.wustl.edu	37	3	195452668	195452668	+	Silent	SNP	C	C	G	rs201581458	byFrequency	TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr3:195452668C>G	ENST00000447234.2	+	2	1320	c.1194C>G	c.(1192-1194)ccC>ccG	p.P398P	MUC20_ENST00000445522.2_Silent_p.P363P|MUC20_ENST00000320736.6_Silent_p.P227P|MUC20_ENST00000436408.1_Silent_p.P398P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	398	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATCACCCCCTCATGGTCCC	0.582													a|||	1176	0.234824	0.2731	0.2233	5008	,	,		23539	0.3294		0.1988	False		,,,				2504	0.1309					dbGAP											0													4.0	3.0	3.0					3																	195452668		1613	3526	5139	-	-	-	SO:0001819	synonymous_variant	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1194C>G	3.37:g.195452668C>G			Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	NULL	p.P398	ENST00000447234.2	37	c.1194		3																																																																																			MUC20	-	NULL	ENSG00000176945		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	46	0.00	0	C	NM_152673		195452668	195452668	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	silent	88	12.87	13	SNP	0.004	G
MUC4	4585	genome.wustl.edu	37	3	195515141	195515141	+	Missense_Mutation	SNP	A	A	G	rs71321850		TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr3:195515141A>G	ENST00000463781.3	-	2	3769	c.3310T>C	c.(3310-3312)Tct>Cct	p.S1104P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1104P|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	536					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGAGGTGGCGTGA	0.577																																						dbGAP											0													9.0	7.0	8.0					3																	195515141		652	1501	2153	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3310T>C	3.37:g.195515141A>G	ENSP00000417498:p.Ser1104Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S1104P	ENST00000463781.3	37	c.3310	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	2.903	-0.226978	0.06022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.54;1.53	0.814	-1.63	0.08345	.	.	.	.	.	T	0.14743	0.0356	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.17979	0.02	T	0.27331	-1.0077	8	.	.	.	.	3.2893	0.06943	0.3417:0.453:0.2052:0.0	.	1104	E7ESK3	.	P	1104	ENSP00000417498:S1104P;ENSP00000420243:S1104P	.	S	-	1	0	MUC4	196999536	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-2.301000	0.01137	-1.323000	0.02275	0.055000	0.15244	TCT	MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	47	0.00	0	A	NM_018406		195515141	195515141	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	330	12.43	47	SNP	0.000	G
NPAS1	4861	genome.wustl.edu	37	19	47543707	47543707	+	Missense_Mutation	SNP	G	G	C	rs376462922		TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr19:47543707G>C	ENST00000602212.1	+	9	1188	c.968G>C	c.(967-969)aGc>aCc	p.S323T	NPAS1_ENST00000602189.1_Missense_Mutation_p.S148T|NPAS1_ENST00000439365.2_Missense_Mutation_p.S147T|NPAS1_ENST00000449844.2_Missense_Mutation_p.S323T			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	323	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCAGAGTCAGCGACCACATG	0.652																																						dbGAP											0													32.0	29.0	30.0					19																	47543707		2200	4294	6494	-	-	-	SO:0001583	missense	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.968G>C	19.37:g.47543707G>C	ENSP00000469142:p.Ser323Thr		B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.S323T	ENST00000602212.1	37	c.968	CCDS12694.1	19	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112991	0.37242	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.32272	1.46;1.46	5.27	4.19	0.49359	PAS fold-3 (1);PAS (1);	0.157745	0.44902	D	0.000402	T	0.32315	0.0825	N	0.25992	0.78	0.39890	D	0.973765	B;P	0.37370	0.376;0.592	B;P	0.51016	0.104;0.656	T	0.05273	-1.0895	10	0.15499	T	0.54	.	13.2284	0.59927	0.0:0.1588:0.8412:0.0	.	147;323	B4DR69;Q99742	.;NPAS1_HUMAN	T	323;147	ENSP00000405290:S323T;ENSP00000398689:S147T	ENSP00000398689:S147T	S	+	2	0	NPAS1	52235547	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.404000	0.52623	2.460000	0.83146	0.655000	0.94253	AGC	NPAS1	-	pfam_PAS_fold_3,smart_PAS	ENSG00000130751		0.652	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	39	0.00	0	G	NM_002517		47543707	47543707	+1	no_errors	ENST00000449844	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.998	C
OPA1	4976	genome.wustl.edu	37	3	193353241	193353243	+	In_Frame_Del	DEL	AGG	AGG	-	rs112166290		TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr3:193353241_193353243delAGG	ENST00000392438.3	+	7	947_949	c.713_715delAGG	c.(712-717)aaggag>aag	p.E239del	OPA1_ENST00000361715.2_In_Frame_Del_p.E258del|OPA1_ENST00000361908.3_In_Frame_Del_p.E276del|OPA1_ENST00000361828.2_In_Frame_Del_p.E257del|OPA1_ENST00000361510.2_In_Frame_Del_p.E294del|OPA1_ENST00000361150.2_In_Frame_Del_p.E240del	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	239					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CGATTAGAAAAGGAGAACAAAGA	0.286																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.713_715delAGG	3.37:g.193353241_193353243delAGG	ENSP00000376233:p.Glu239del		D3DNW4	In_Frame_Del	DEL	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.E294in_frame_del	ENST00000392438.3	37	c.878_880	CCDS43186.1	3																																																																																			OPA1	-	NULL	ENSG00000198836		0.286	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	50	0.00	0	AGG	NM_130837		193353241	193353243	+1	no_errors	ENST00000361510	ensembl	human	known	69_37n	in_frame_del	199	28.67	80	DEL	1.000:1.000:1.000	-
PADI3	51702	genome.wustl.edu	37	1	17575713	17575713	+	Silent	SNP	G	G	A			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr1:17575713G>A	ENST00000375460.3	+	1	121	c.81G>A	c.(79-81)gtG>gtA	p.V27V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	27					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGACCCTCGTGGACATTTATG	0.602																																						dbGAP											0													143.0	123.0	130.0					1																	17575713		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.81G>A	1.37:g.17575713G>A			Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V27	ENST00000375460.3	37	c.81	CCDS179.1	1																																																																																			PADI3	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	106	0.00	0	G			17575713	17575713	+1	no_errors	ENST00000375460	ensembl	human	known	69_37n	silent	107	42.93	82	SNP	1.000	A
OR10J1	26476	genome.wustl.edu	37	1	159410003	159410003	+	Missense_Mutation	SNP	G	G	A	rs202246787	byFrequency	TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr1:159410003G>A	ENST00000423932.3	+	1	492	c.455G>A	c.(454-456)cGt>cAt	p.R152H	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	152					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AAGAGGCTGCGTATCCAACTT	0.502													G|||	3	0.000599042	0.0008	0.0	5008	,	,		22778	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													131.0	124.0	126.0					1																	159410003		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.455G>A	1.37:g.159410003G>A	ENSP00000399078:p.Arg152His		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R152H	ENST00000423932.3	37	c.455	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	G	7.290	0.610932	0.14066	.	.	ENSG00000196184	ENST00000423932	T	0.37411	1.2	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000393	T	0.18551	0.0445	L	0.46819	1.47	0.09310	N	1	B	0.26002	0.139	B	0.14023	0.01	T	0.11060	-1.0603	10	0.87932	D	0	.	15.2709	0.73699	0.0:0.0:1.0:0.0	.	152	P30954	O10J1_HUMAN	H	152	ENSP00000399078:R152H	ENSP00000399078:R152H	R	+	2	0	OR10J1	157676627	0.008000	0.16893	0.007000	0.13788	0.007000	0.05969	1.752000	0.38349	2.504000	0.84457	0.655000	0.94253	CGT	OR10J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196184		0.502	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	145	0.00	0	G	NM_012351		159410003	159410003	+1	no_errors	ENST00000423932	ensembl	human	known	69_37n	missense	221	25.00	74	SNP	0.010	A
PFDN6	10471	genome.wustl.edu	37	6	33258127	33258127	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr6:33258127A>G	ENST00000395131.1	+	4	566	c.160A>G	c.(160-162)Aac>Gac	p.N54D	PFDN6_ENST00000374606.5_Missense_Mutation_p.N54D|RGL2_ENST00000437840.2_5'Flank|WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374610.2_Missense_Mutation_p.N54D|PFDN6_ENST00000463584.1_Missense_Mutation_p.N54D|PFDN6_ENST00000374607.1_Missense_Mutation_p.N54D			O15212	PFD6_HUMAN	prefoldin subunit 6	54					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						GGATGGGTCCAACGTGGTCTT	0.557																																						dbGAP											0													112.0	109.0	110.0					6																	33258127		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.160A>G	6.37:g.33258127A>G	ENSP00000378563:p.Asn54Asp			Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.N54D	ENST00000395131.1	37	c.160	CCDS4773.1	6	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678948	0.88542	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607;ENST00000463584	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.63	5.63	0.86233	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.55103	1.725	0.58432	D	0.999999	B	0.21147	0.052	B	0.26094	0.066	T	0.06917	-1.0800	10	0.11182	T	0.66	.	12.1555	0.54074	1.0:0.0:0.0:0.0	.	54	O15212	PFD6_HUMAN	D	54	ENSP00000378563:N54D;ENSP00000363734:N54D;ENSP00000363738:N54D;ENSP00000363735:N54D;ENSP00000420135:N54D	ENSP00000363734:N54D	N	+	1	0	PFDN6	33366105	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.260000	0.78391	2.363000	0.80096	0.523000	0.50628	AAC	PFDN6	-	pfam_PFD_beta-like,superfamily_Prefoldin	ENSG00000204220		0.557	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PFDN6	HGNC	protein_coding	OTTHUMT00000276361.1	182	0.00	0	A	NM_014260		33258127	33258127	+1	no_errors	ENST00000374606	ensembl	human	known	69_37n	missense	179	45.92	152	SNP	1.000	G
PRDM16	63976	genome.wustl.edu	37	1	3347638	3347638	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr1:3347638G>A	ENST00000270722.5	+	15	3536	c.3487G>A	c.(3487-3489)Gcc>Acc	p.A1163T	PRDM16_ENST00000378391.2_Missense_Mutation_p.A1163T|PRDM16_ENST00000442529.2_Missense_Mutation_p.A1162T|PRDM16_ENST00000511072.1_Missense_Mutation_p.A1164T|PRDM16_ENST00000514189.1_Missense_Mutation_p.A1163T|PRDM16_ENST00000441472.2_Missense_Mutation_p.A1162T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.A1163T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1163	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGAGCCAGCCGCCTCCCTGGC	0.697			T	EVI1	"""MDS, AML"""																																	dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													20.0	32.0	28.0					1																	3347638		2051	4111	6162	-	-	-	SO:0001583	missense	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3487G>A	1.37:g.3347638G>A	ENSP00000270722:p.Ala1163Thr		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A1163T	ENST00000270722.5	37	c.3487	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.688870	0.00738	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06294	3.32;3.43;3.44;3.43;3.43;3.34;3.44;3.39;3.39	4.1	-7.4	0.01397	.	3.097660	0.01966	N	0.043670	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.39643	-0.9604	10	0.09084	T	0.74	.	10.2132	0.43154	0.7187:0.1161:0.1652:0.0	.	1163;1163;1162;1162	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	T	1164;1163;1162;1162;1163;1163;1163;979;979;971	ENSP00000426975:A1164T;ENSP00000367651:A1163T;ENSP00000407968:A1162T;ENSP00000405253:A1162T;ENSP00000367643:A1163T;ENSP00000421400:A1163T;ENSP00000270722:A1163T;ENSP00000422504:A979T;ENSP00000425796:A971T	ENSP00000270722:A1163T	A	+	1	0	PRDM16	3337498	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.797000	0.04570	-1.526000	0.01760	-1.810000	0.00614	GCC	PRDM16	-	NULL	ENSG00000142611		0.697	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	54	0.00	0	G	NM_022114		3347638	3347638	+1	no_errors	ENST00000270722	ensembl	human	known	69_37n	missense	23	35.90	14	SNP	0.002	A
PTPN13	5783	genome.wustl.edu	37	4	87662819	87662820	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr4:87662819_87662820delTT	ENST00000411767.2	+	16	2400_2401	c.2337_2338delTT	c.(2335-2340)cattttfs	p.F780fs	PTPN13_ENST00000316707.6_Frame_Shift_Del_p.F780fs|PTPN13_ENST00000436978.1_Frame_Shift_Del_p.F780fs|PTPN13_ENST00000511467.1_Frame_Shift_Del_p.F780fs|PTPN13_ENST00000427191.2_Frame_Shift_Del_p.F780fs			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	780	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATGGAGTTCATTTTCACCGAGT	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2337_2338delTT	4.37:g.87662821_87662822delTT	ENSP00000407249:p.Phe780fs		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Frame_Shift_Del	DEL	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.F780fs	ENST00000411767.2	37	c.2337_2338	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000163629		0.411	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	175	0.00	0	TT			87662819	87662820	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	frame_shift_del	271	11.33	35	DEL	1.000:1.000	-
RYR1	6261	genome.wustl.edu	37	19	38976254	38976254	+	Silent	SNP	G	G	A			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr19:38976254G>A	ENST00000359596.3	+	34	4959	c.4959G>A	c.(4957-4959)tcG>tcA	p.S1653S	RYR1_ENST00000360985.3_Silent_p.S1653S|RYR1_ENST00000355481.4_Silent_p.S1653S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1653	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGAGCTGTCGGAGCGCCTGG	0.632																																						dbGAP											0													46.0	44.0	44.0					19																	38976254		2201	4293	6494	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4959G>A	19.37:g.38976254G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S1653	ENST00000359596.3	37	c.4959	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	24	0.00	0	G			38976254	38976254	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	4	63.64	7	SNP	0.162	A
SFXN2	118980	genome.wustl.edu	37	10	104489151	104489151	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr10:104489151G>A	ENST00000369893.5	+	5	674	c.507G>A	c.(505-507)aaG>aaA	p.K169K		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	169				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 4). {ECO:0000305}.	iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TGTTGACAAAGGTATGGTCTG	0.617											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													48.0	42.0	44.0					10																	104489151		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.507+1G>A	10.37:g.104489151G>A		1382	Q5JSM6	Silent	SNP	pfam_Mtc,tigrfam_Mtc	p.K169	ENST00000369893.5	37	c.507	CCDS7539.1	10																																																																																			SFXN2	-	pfam_Mtc,tigrfam_Mtc	ENSG00000156398		0.617	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	75	0.00	0	G	XM_058359	Silent	104489151	104489151	+1	no_errors	ENST00000369893	ensembl	human	known	69_37n	silent	30	44.44	24	SNP	1.000	A
SNAP23	8773	genome.wustl.edu	37	15	42820532	42820533	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr15:42820532_42820533delTG	ENST00000249647.3	+	6	807_808	c.339_340delTG	c.(337-342)aatgtafs	p.V115fs	SNAP23_ENST00000349777.1_Intron|SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	115					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CACCTTGCAATGTAGTATCTAA	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.339_340delTG	15.37:g.42820532_42820533delTG	ENSP00000249647:p.Val115fs		O00162|Q13602|Q6IAE3	Frame_Shift_Del	DEL	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.V114fs	ENST00000249647.3	37	c.339_340	CCDS10087.1	15																																																																																			SNAP23	-	pfam_SNAP-25	ENSG00000092531		0.470	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP23	HGNC	protein_coding	OTTHUMT00000253111.4	40	0.00	0	TG	NM_003825		42820532	42820533	+1	no_errors	ENST00000249647	ensembl	human	known	69_37n	frame_shift_del	88	40.14	59	DEL	0.775:0.991	-
SNRNP35	11066	genome.wustl.edu	37	12	123950441	123950441	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr12:123950441C>A	ENST00000526639.2	+	2	933	c.354C>A	c.(352-354)gaC>gaA	p.D118E	SNRNP35_ENST00000350887.5_Missense_Mutation_p.D118E|SNRNP35_ENST00000412157.2_Missense_Mutation_p.D123E|SNRNP35_ENST00000527158.2_Intron	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	118	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGGTTATTGACCAGCATGAGA	0.522																																						dbGAP											0													109.0	110.0	110.0					12																	123950441		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.354C>A	12.37:g.123950441C>A	ENSP00000432595:p.Asp118Glu		A8K262|Q5XKN9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D123E	ENST00000526639.2	37	c.369	CCDS9249.1	12	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595739	0.66219	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.15718	2.4;2.4;2.4	5.66	3.42	0.39159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048477	0.85682	D	0.000000	T	0.23330	0.0564	L	0.47078	1.49	0.50171	D	0.999853	P;P	0.37500	0.597;0.504	B;P	0.47786	0.227;0.557	T	0.02226	-1.1192	10	0.45353	T	0.12	-28.5685	10.8032	0.46502	0.0:0.7172:0.0:0.2828	.	123;118	Q16560-2;Q16560	.;U1SBP_HUMAN	E	118;123;118	ENSP00000432595:D118E;ENSP00000403310:D123E;ENSP00000340774:D118E	ENSP00000340774:D118E	D	+	3	2	SNRNP35	122516394	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.851000	0.27751	1.349000	0.45751	0.555000	0.69702	GAC	SNRNP35	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000184209		0.522	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000395197.2	74	0.00	0	C	NM_007020		123950441	123950441	+1	no_errors	ENST00000412157	ensembl	human	known	69_37n	missense	182	14.55	31	SNP	1.000	A
SPACA1	81833	genome.wustl.edu	37	6	88769287	88769288	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr6:88769287_88769288delCA	ENST00000237201.1	+	5	708_709	c.591_592delCA	c.(589-594)ttcacafs	p.T198fs	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	198					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CTATTAAATTCACAGTCTATAC	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.591_592delCA	6.37:g.88769289_88769290delCA	ENSP00000237201:p.Thr198fs			Frame_Shift_Del	DEL	NULL	p.T198fs	ENST00000237201.1	37	c.591_592	CCDS5014.1	6																																																																																			SPACA1	-	NULL	ENSG00000118434		0.376	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	46	0.00	0	CA			88769287	88769288	+1	no_errors	ENST00000237201	ensembl	human	known	69_37n	frame_shift_del	178	18.64	41	DEL	1.000:1.000	-
TDRD3	81550	genome.wustl.edu	37	13	61013901	61013901	+	5'UTR	SNP	C	C	G			TCGA-A8-A09V-01A-11D-A045-09	TCGA-A8-A09V-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	818f1a34-17c5-409a-b5f5-4a8576db0d44	410ed951-300a-4227-bc61-52a1649301f6	g.chr13:61013901C>G	ENST00000196169.3	+	0	634				TDRD3_ENST00000377881.2_5'UTR|TDRD3_ENST00000377894.2_5'UTR|TDRD3_ENST00000535286.1_Missense_Mutation_p.L41V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3						chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTGATTGCTCTCAATGTAGG	0.308																																					Colon(36;164 906 35820 50723)	dbGAP											0													95.0	85.0	88.0					13																	61013901		692	1589	2281	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.-155C>G	13.37:g.61013901C>G			B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.L41V	ENST00000196169.3	37	c.121	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877636	0.72294	.	.	ENSG00000083544	ENST00000535286	T	0.70986	-0.53	5.87	5.87	0.94306	.	.	.	.	.	T	0.81059	0.4744	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.57960	0.83	T	0.81339	-0.0977	8	0.52906	T	0.07	.	17.1181	0.86694	0.0:1.0:0.0:0.0	.	41	Q9H7E2-3	.	V	41	ENSP00000440190:L41V	ENSP00000440190:L41V	L	+	1	0	TDRD3	59911902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.485000	0.53208	2.763000	0.94921	0.655000	0.94253	CTC	TDRD3	-	pfam_DUF1767	ENSG00000083544		0.308	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	66	0.00	0	C	NM_030794		61013901	61013901	+1	no_errors	ENST00000535286	ensembl	human	known	69_37n	missense	100	37.89	61	SNP	1.000	G
