#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
ASMTL	8623	genome.wustl.edu	37	X	1522276	1522276	+	Silent	SNP	C	C	T			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chrX:1522276C>T	ENST00000381317.3	-	13	1784	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000534940.1_Silent_p.E526E|ASMTL_ENST00000381333.4_Silent_p.E568E|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000416733.2_Silent_p.E508E	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	584	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGCTCCGCTCCTTGCCTT	0.632																																						dbGAP											0													88.0	99.0	95.0					X																	1522276		2117	4226	6343	-	-	-	SO:0001819	synonymous_variant	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1752G>A	X.37:g.1522276C>T			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.E584	ENST00000381317.3	37	c.1752	CCDS43917.1	X																																																																																			ASMTL	-	pfam_O_MeTrfase_2	ENSG00000169093		0.632	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	93	0.00	0	C	NM_004192		1522276	1522276	-1	no_errors	ENST00000381317	ensembl	human	known	69_37n	silent	67	35.58	37	SNP	0.991	T
ALAS2	212	genome.wustl.edu	37	X	55042138	55042138	+	Silent	SNP	G	G	T			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chrX:55042138G>T	ENST00000330807.5	-	8	1178	c.1041C>A	c.(1039-1041)tcC>tcA	p.S347S	ALAS2_ENST00000335854.4_Silent_p.S310S|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.S334S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	347					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATACTGGTGGGACACATCAC	0.557																																						dbGAP											0													88.0	63.0	72.0					X																	55042138		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1041C>A	X.37:g.55042138G>T			A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.S347	ENST00000330807.5	37	c.1041	CCDS14366.1	X																																																																																			ALAS2	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.557	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	97	0.00	0	G	NM_000032		55042138	55042138	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	silent	84	29.41	35	SNP	0.990	T
CALM2	805	genome.wustl.edu	37	2	47403600	47403600	+	5'UTR	SNP	T	T	A			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr2:47403600T>A	ENST00000272298.7	-	0	140				RP11-761B3.1_ENST00000422269.1_Missense_Mutation_p.K17N|CALM2_ENST00000484408.1_5'Flank|CALM2_ENST00000409563.1_5'UTR	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GCGCTACCGGTTTCCGAGACG	0.612																																						dbGAP											2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											70.0	64.0	66.0					2																	47403600		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.-18A>T	2.37:g.47403600T>A			P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.K17N	ENST00000272298.7	37	c.51	CCDS1832.1	2	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238491	0.39598	.	.	ENSG00000143933	ENST00000456319	T	0.75050	-0.9	5.61	4.38	0.52667	.	.	.	.	.	T	0.66877	0.2834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61831	-0.6982	6	0.23302	T	0.38	.	5.4798	0.16717	0.0:0.0874:0.1765:0.7361	.	.	.	.	N	17	ENSP00000411440:K17N	ENSP00000411440:K17N	K	-	3	2	CALM2	47257104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	2.269000	0.75478	0.533000	0.62120	AAA	CALM2	-	NULL	ENSG00000143933		0.612	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM2	HGNC	protein_coding	OTTHUMT00000250789.3	70	0.00	0	T	NM_001743		47403600	47403600	-1	no_start_codon	ENST00000456319	ensembl	human	putative	69_37n	missense	41	40.58	28	SNP	0.994	A
CDH6	1004	genome.wustl.edu	37	5	31294263	31294263	+	Silent	SNP	C	C	T			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr5:31294263C>T	ENST00000265071.2	+	3	688	c.423C>T	c.(421-423)ccC>ccT	p.P141P	CDH6_ENST00000514738.1_Silent_p.P86P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	141	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P141P(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCGTGGAGCCCGAGTCTGAAT	0.483																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											140.0	141.0	140.0					5																	31294263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.423C>T	5.37:g.31294263C>T			A8K5H5|Q9BWS0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P141	ENST00000265071.2	37	c.423	CCDS3894.1	5																																																																																			CDH6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113361		0.483	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	60	0.00	0	C	NM_004932		31294263	31294263	+1	no_errors	ENST00000265071	ensembl	human	known	69_37n	silent	53	43.62	41	SNP	0.039	T
FBN3	84467	genome.wustl.edu	37	19	8191626	8191626	+	Missense_Mutation	SNP	C	C	T	rs199686298		TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr19:8191626C>T	ENST00000600128.1	-	19	2801	c.2387G>A	c.(2386-2388)cGg>cAg	p.R796Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R796Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R796Q			Q75N90	FBN3_HUMAN	fibrillin 3	796	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGTCCAGCCGGCTGCCAGG	0.662													c|||	1	0.000199681	0.0	0.0	5008	,	,		15378	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													32.0	35.0	34.0					19																	8191626		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2387G>A	19.37:g.8191626C>T	ENSP00000470498:p.Arg796Gln		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.R796Q	ENST00000600128.1	37	c.2387	CCDS12196.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	10.21	1.287686	0.23478	.	.	ENSG00000142449	ENST00000270509	D	0.87179	-2.22	3.52	1.35	0.21983	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.140722	0.44285	N	0.000470	T	0.70037	0.3178	N	0.10837	0.055	0.19775	N	0.999959	P	0.47604	0.898	B	0.41571	0.36	T	0.65047	-0.6263	10	0.15066	T	0.55	.	8.0369	0.30496	0.0:0.6497:0.0:0.3503	.	796	Q75N90	FBN3_HUMAN	Q	796	ENSP00000270509:R796Q	ENSP00000270509:R796Q	R	-	2	0	FBN3	8097626	0.090000	0.21635	0.545000	0.28153	0.329000	0.28539	0.363000	0.20301	0.490000	0.27771	-0.320000	0.08662	CGG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	32	0.00	0	C	NM_032447		8191626	8191626	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	0.996	T
FRG1B	284802	genome.wustl.edu	37	20	29632643	29632643	+	Missense_Mutation	SNP	T	T	C	rs143379667		TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr20:29632643T>C	ENST00000278882.3	+	8	838	c.458T>C	c.(457-459)cTt>cCt	p.L153P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L153P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	153								p.L153P(10)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GACCACAAACTTAAAATAAGT	0.294																																						dbGAP											10	Substitution - Missense(10)	endometrium(6)|kidney(4)																																								-	-	-	SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.458T>C	20.37:g.29632643T>C	ENSP00000278882:p.Leu153Pro		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.L153P	ENST00000278882.3	37	c.458		20	.	.	.	.	.	.	.	.	.	.	t	12.77	2.038665	0.35989	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.44	1.44	0.22558	.	0.000000	0.64402	U	0.000001	T	0.50463	0.1617	.	.	.	0.80722	D	1	P	0.35033	0.481	B	0.40038	0.317	T	0.53187	-0.8474	8	0.87932	D	0	.	6.9831	0.24713	0.0:0.0:0.0:1.0	.	153	Q9BZ01	FRG1B_HUMAN	P	153	.	ENSP00000278882:L153P	L	+	2	0	FRG1B	28246304	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.723000	0.74742	0.925000	0.37094	0.327000	0.21459	CTT	FRG1B	-	pfam_FRG1	ENSG00000149531		0.294	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	29	0.00	0	T	NR_003579		29632643	29632643	+1	no_errors	ENST00000278882	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	1.000	C
FRMPD4	9758	genome.wustl.edu	37	X	12722503	12722503	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chrX:12722503C>A	ENST00000380682.1	+	11	1602	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	366	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAGACTTTTCTTCCCTCTGC	0.373																																						dbGAP											0													111.0	102.0	105.0					X																	12722503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1096C>A	X.37:g.12722503C>A	ENSP00000370057:p.Leu366Ile		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.L366I	ENST00000380682.1	37	c.1096	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156994	0.78114	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.52983	0.64	5.72	5.72	0.89469	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.64402	D	0.000001	T	0.59797	0.2220	L	0.35644	1.08	0.41319	D	0.987166	D;B	0.89917	1.0;0.374	D;P	0.91635	0.999;0.627	T	0.52909	-0.8512	10	0.20519	T	0.43	-34.4774	18.919	0.92518	0.0:1.0:0.0:0.0	.	358;366	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	366;357;355	ENSP00000370057:L366I	ENSP00000304583:L355I	L	+	1	0	FRMPD4	12632424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.543000	0.60684	2.415000	0.81967	0.600000	0.82982	CTT	FRMPD4	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169933		0.373	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	138	0.00	0	C	XM_045712		12722503	12722503	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	102	40.00	68	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA			Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	110	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	106	24.11	34	DEL	1.000:1.000	-
GOLGA8J	653073	genome.wustl.edu	37	15	30382467	30382467	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr15:30382467A>G	ENST00000567927.1	+	13	1184	c.1184A>G	c.(1183-1185)cAg>cGg	p.Q395R	AC120045.1_ENST00000408323.1_RNA|GOLGA8J_ENST00000341650.6_Missense_Mutation_p.Q208R|RN7SL673P_ENST00000473279.2_RNA			A6NMD2	GOG8J_HUMAN	golgin A8 family, member J	395						Golgi apparatus (GO:0005794)											AAGGAGCTACAGGAGAAGCTT	0.592																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS61574.1	15q13.2	2012-10-05			ENSG00000179938	ENSG00000179938			38650	protein-coding gene	gene with protein product							Standard	NM_001282472		Approved			A6NMD2	OTTHUMG00000175635	ENST00000567927.1:c.1184A>G	15.37:g.30382467A>G	ENSP00000456401:p.Gln395Arg		H3BRU0	Missense_Mutation	SNP	NULL	p.Q208R	ENST00000567927.1	37	c.623		15	.	.	.	.	.	.	.	.	.	.	.	9.159	1.018338	0.19355	.	.	ENSG00000179938	ENST00000341650	T	0.26957	1.7	1.48	1.48	0.22813	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.31685	N	0.642622	.	.	.	.	.	.	T	0.33214	-0.9877	6	0.52906	T	0.07	.	5.1172	0.14840	1.0:0.0:0.0:0.0	.	.	.	.	R	208	ENSP00000345217:Q208R	ENSP00000345217:Q208R	Q	+	2	0	GOLGA8J	28169759	1.000000	0.71417	0.964000	0.40570	0.040000	0.13550	5.593000	0.67550	0.944000	0.37579	0.147000	0.16070	CAG	GOLGA8J	-	NULL	ENSG00000179938		0.592	GOLGA8J-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8J	HGNC	protein_coding	OTTHUMT00000430682.1	42	0.00	0	A	XM_001724382		30382467	30382467	+1	no_errors	ENST00000341650	ensembl	human	known	69_37n	missense	49	31.94	23	SNP	0.998	G
GPRIN2	9721	genome.wustl.edu	37	10	46998995	46998995	+	Missense_Mutation	SNP	C	C	G	rs4926045	byFrequency	TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr10:46998995C>G	ENST00000374317.1	+	3	388	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L39V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	39			L -> V (in dbSNP:rs4926045).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGCCAGAGCTCCGCAAGAC	0.711																																						dbGAP											0													33.0	43.0	40.0					10																	46998995		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.115C>G	10.37:g.46998995C>G	ENSP00000363436:p.Leu39Val		Q5SVF0	Missense_Mutation	SNP	NULL	p.L39V	ENST00000374317.1	37	c.115	CCDS31192.1	10	1012	0.4633699633699634	185	0.37601626016260165	176	0.4861878453038674	282	0.493006993006993	369	0.4868073878627968	C	13.49	2.252220	0.39797	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.07444	3.19;3.19	5.44	4.53	0.55603	.	0.364802	0.20240	N	0.096305	T	0.00012	0.0000	M	0.69823	2.125	0.29865	N	0.827312	P	0.46277	0.875	P	0.47376	0.545	T	0.38757	-0.9646	10	0.66056	D	0.02	-16.6038	10.5533	0.45101	0.0:0.9103:0.0:0.0897	rs4926045	39	O60269	GRIN2_HUMAN	V	39	ENSP00000363436:L39V;ENSP00000363433:L39V	ENSP00000363433:L39V	L	+	1	0	GPRIN2	46419001	1.000000	0.71417	0.734000	0.30879	0.281000	0.26958	1.663000	0.37429	1.447000	0.47661	0.655000	0.94253	CTC	GPRIN2	-	NULL	ENSG00000204175		0.711	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	13	0.00	0	C	NM_014696		46998995	46998995	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.989	G
ITGB3	3690	genome.wustl.edu	37	17	45367609	45367609	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr17:45367609A>G	ENST00000559488.1	+	8	1110	c.1094A>G	c.(1093-1095)aAt>aGt	p.N365S	ITGB3_ENST00000435993.2_Missense_Mutation_p.N318S|ITGB3_ENST00000571680.1_Missense_Mutation_p.N365S|ITGB3_ENST00000560629.1_Silent_p.Q353Q	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	365	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GATTCCAGCAATGTCCTCCAG	0.498																																						dbGAP											0													240.0	230.0	234.0					17																	45367609		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1094A>G	17.37:g.45367609A>G	ENSP00000452786:p.Asn365Ser		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.N365S	ENST00000559488.1	37	c.1094	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745139	0.69418	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.96716	-4.1	5.57	5.57	0.84162	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.087974	0.85682	D	0.000000	D	0.96855	0.8973	M	0.91561	3.22	0.80722	D	1	B;B	0.33318	0.408;0.317	B;B	0.35727	0.081;0.209	D	0.96966	0.9705	10	0.87932	D	0	.	14.6883	0.69065	1.0:0.0:0.0:0.0	.	365;365	P05106;Q2YFE1	ITB3_HUMAN;.	S	365;318	ENSP00000407801:N318S	ENSP00000262017:N365S	N	+	2	0	C17orf57	42722608	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	9.339000	0.96797	2.112000	0.64535	0.379000	0.24179	AAT	ITGB3	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000259207		0.498	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	341	0.00	0	A	NM_000212		45367609	45367609	+1	no_errors	ENST00000262017	ensembl	human	known	69_37n	missense	237	36.29	135	SNP	1.000	G
LCP1	3936	genome.wustl.edu	37	13	46732779	46732779	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr13:46732779T>C	ENST00000398576.2	-	7	624	c.236A>G	c.(235-237)cAt>cGt	p.H79R	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.H79R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	79	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTTTAGGCCATGGAAAATCTG	0.378			T	BCL6	NHL																																	dbGAP		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													119.0	110.0	113.0					13																	46732779		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.236A>G	13.37:g.46732779T>C	ENSP00000381581:p.His79Arg		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.H79R	ENST00000398576.2	37	c.236	CCDS9403.1	13	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669320	0.29604	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	T;T;T	0.08896	3.04;3.04;3.04	5.62	3.2	0.36748	.	0.297664	0.41294	N	0.000903	T	0.06416	0.0165	L	0.39898	1.24	0.80722	D	1	B	0.18013	0.025	B	0.20184	0.028	T	0.34004	-0.9846	10	0.16420	T	0.52	-7.827	6.06	0.19832	0.1431:0.0833:0.0:0.7736	.	79	P13796	PLSL_HUMAN	R	79	ENSP00000315757:H79R;ENSP00000381581:H79R;ENSP00000408052:H79R	ENSP00000315757:H79R	H	-	2	0	LCP1	45630780	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	2.852000	0.48310	0.477000	0.27464	0.533000	0.62120	CAT	LCP1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000136167		0.378	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	HGNC	protein_coding	OTTHUMT00000044800.3	168	0.00	0	T	NM_002298		46732779	46732779	-1	no_errors	ENST00000323076	ensembl	human	known	69_37n	missense	157	32.62	76	SNP	1.000	C
LRP2	4036	genome.wustl.edu	37	2	170135997	170135997	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr2:170135997C>A	ENST00000263816.3	-	12	1735	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	LRP2_ENST00000443831.1_Missense_Mutation_p.V484L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	484					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTGGTTTCCACTAGATAGATT	0.403																																						dbGAP											0													109.0	115.0	113.0					2																	170135997		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1450G>T	2.37:g.170135997C>A	ENSP00000263816:p.Val484Leu		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V484L	ENST00000263816.3	37	c.1450	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625081	0.46840	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.93247	-3.19;-3.19	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	D	0.94329	0.7560	9	.	.	.	.	19.5773	0.95450	0.0:1.0:0.0:0.0	.	484;484	E9PC35;P98164	.;LRP2_HUMAN	L	484	ENSP00000263816:V484L;ENSP00000409813:V484L	.	V	-	1	0	LRP2	169844243	1.000000	0.71417	0.613000	0.29037	0.355000	0.29361	4.911000	0.63328	2.643000	0.89663	0.650000	0.86243	GTG	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	80	0.00	0	C	NM_004525		170135997	170135997	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	75	33.04	37	SNP	1.000	A
MYO18A	399687	genome.wustl.edu	37	17	27445423	27445423	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr17:27445423T>C	ENST00000527372.1	-	9	2045	c.1865A>G	c.(1864-1866)aAt>aGt	p.N622S	MYO18A_ENST00000531253.1_Missense_Mutation_p.N622S|MYO18A_ENST00000354329.4_Missense_Mutation_p.N622S|MYO18A_ENST00000533112.1_Missense_Mutation_p.N622S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	622	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCAAACACATTGTTCTCTGC	0.597																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													77.0	81.0	80.0					17																	27445423		1994	4158	6152	-	-	-	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1865A>G	17.37:g.27445423T>C	ENSP00000437073:p.Asn622Ser		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.N622S	ENST00000527372.1	37	c.1865	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	T	4.952	0.176825	0.09443	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	4.97	0.309	0.15820	Myosin head, motor domain (2);	0.089123	0.85682	N	0.000000	T	0.48259	0.1490	N	0.13352	0.335	0.31231	N	0.696358	B;B;B;B;B	0.25521	0.028;0.006;0.018;0.018;0.128	B;B;B;B;B	0.24848	0.03;0.005;0.016;0.016;0.056	T	0.41787	-0.9489	10	0.27785	T	0.31	.	9.4392	0.38657	0.0:0.2663:0.0:0.7337	.	291;234;622;622;622	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	S	622;622;622;622;622;234	ENSP00000346291:N622S;ENSP00000435932:N622S;ENSP00000434228:N622S;ENSP00000437073:N622S	ENSP00000346291:N622S	N	-	2	0	MYO18A	24469549	0.988000	0.35896	0.994000	0.49952	0.923000	0.55619	0.507000	0.22675	-0.157000	0.11059	-2.133000	0.00342	AAT	MYO18A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000196535		0.597	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	142	0.00	0	T	NM_078471		27445423	27445423	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	missense	113	27.10	42	SNP	0.999	C
MYPN	84665	genome.wustl.edu	37	10	69961611	69961611	+	Silent	SNP	G	G	T			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr10:69961611G>T	ENST00000358913.5	+	18	4007	c.3519G>T	c.(3517-3519)gtG>gtT	p.V1173V	MYPN_ENST00000354393.2_Silent_p.V898V|MYPN_ENST00000540630.1_Silent_p.V1173V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1173	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGCACCTGTGATCCTGGAGA	0.493																																						dbGAP											0													98.0	92.0	94.0					10																	69961611		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3519G>T	10.37:g.69961611G>T			Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V1173	ENST00000358913.5	37	c.3519	CCDS7275.1	10																																																																																			MYPN	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000138347		0.493	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	36	0.00	0	G	NM_032578		69961611	69961611	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	silent	42	35.38	23	SNP	1.000	T
NOTCH2	4853	genome.wustl.edu	37	1	120465265	120465265	+	Missense_Mutation	SNP	C	C	A	rs371812503		TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr1:120465265C>A	ENST00000256646.2	-	27	5215	c.4996G>T	c.(4996-4998)Gtc>Ttc	p.V1666F	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1666	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACTGACGACAGACACAAGA	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													94.0	93.0	93.0					1																	120465265		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4996G>T	1.37:g.120465265C>A	ENSP00000256646:p.Val1666Phe		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.V1666F	ENST00000256646.2	37	c.4996	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125849	0.77436	.	.	ENSG00000134250	ENST00000256646	T	0.50548	0.74	5.67	5.67	0.87782	Notch, NODP domain (1);	0.000000	0.34223	U	0.004151	T	0.68063	0.2960	M	0.86028	2.79	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.70876	-0.4753	10	0.54805	T	0.06	.	18.7645	0.91866	0.0:1.0:0.0:0.0	.	1666	Q04721	NOTC2_HUMAN	F	1666	ENSP00000256646:V1666F	ENSP00000256646:V1666F	V	-	1	0	NOTCH2	120266788	1.000000	0.71417	0.996000	0.52242	0.515000	0.34225	5.968000	0.70413	2.687000	0.91594	0.563000	0.77884	GTC	NOTCH2	-	pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_2	ENSG00000134250		0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	117	0.00	0	C	NM_024408		120465265	120465265	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	87	36.96	51	SNP	0.999	A
PCDH19	57526	genome.wustl.edu	37	X	99663130	99663130	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chrX:99663130G>C	ENST00000373034.4	-	1	2141	c.466C>G	c.(466-468)Cca>Gca	p.P156A	PCDH19_ENST00000420881.2_Missense_Mutation_p.P156A|PCDH19_ENST00000255531.7_Missense_Mutation_p.P156A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						CCTGAGTCTGGATCGTAAGCG	0.637																																						dbGAP											0													69.0	68.0	68.0					X																	99663130		2109	4216	6325	-	-	-	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.466C>G	X.37:g.99663130G>C	ENSP00000362125:p.Pro156Ala		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P156A	ENST00000373034.4	37	c.466	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738086	0.69304	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	L	0.31804	0.96	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.991	D;D;D	0.87578	0.998;0.925;0.955	T	0.57539	-0.7794	10	0.39692	T	0.17	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	156;156;156	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	156	ENSP00000400327:P156A;ENSP00000362125:P156A;ENSP00000255531:P156A	ENSP00000255531:P156A	P	-	1	0	PCDH19	99549786	1.000000	0.71417	0.733000	0.30861	0.932000	0.56968	9.807000	0.99171	2.385000	0.81259	0.544000	0.68410	CCA	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	85	0.00	0	G	NM_020766		99663130	99663130	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	45	34.29	24	SNP	1.000	C
PHF20	51230	genome.wustl.edu	37	20	34519315	34519315	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr20:34519315A>T	ENST00000374012.3	+	15	2378	c.2249A>T	c.(2248-2250)cAg>cTg	p.Q750L	PHF20_ENST00000439301.1_3'UTR|RNU6-937P_ENST00000384325.1_RNA			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	750					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGTGATGTGCAGAGAGTGATT	0.527																																						dbGAP											0													110.0	97.0	101.0					20																	34519315		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2249A>T	20.37:g.34519315A>T	ENSP00000363124:p.Gln750Leu		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.Q750L	ENST00000374012.3	37	c.2249	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091087	0.76756	.	.	ENSG00000025293	ENST00000374012	T	0.28895	1.59	5.02	5.02	0.67125	.	0.166023	0.56097	D	0.000030	T	0.34019	0.0883	L	0.42245	1.32	0.80722	D	1	D	0.59357	0.985	P	0.53518	0.728	T	0.09930	-1.0652	10	0.05351	T	0.99	.	14.9142	0.70781	1.0:0.0:0.0:0.0	.	750	Q9BVI0	PHF20_HUMAN	L	750	ENSP00000363124:Q750L	ENSP00000363124:Q750L	Q	+	2	0	PHF20	33982729	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.761000	0.91691	2.095000	0.63458	0.523000	0.50628	CAG	PHF20	-	NULL	ENSG00000025293		0.527	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	96	0.00	0	A	NM_016436		34519315	34519315	+1	no_errors	ENST00000374012	ensembl	human	known	69_37n	missense	69	29.59	29	SNP	1.000	T
SEH1L	81929	genome.wustl.edu	37	18	12971157	12971157	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr18:12971157G>A	ENST00000262124.11	+	5	654	c.527G>A	c.(526-528)cGt>cAt	p.R176H	SEH1L_ENST00000399892.2_Missense_Mutation_p.R176H	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	176					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TCTAGCTCTCGTGCTCATTCC	0.433																																						dbGAP											0													106.0	98.0	100.0					18																	12971157		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.527G>A	18.37:g.12971157G>A	ENSP00000262124:p.Arg176His		A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R176H	ENST00000262124.11	37	c.527	CCDS45832.1	18	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474818	0.43942	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.70869	-0.43;-0.52	6.04	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.86651	2.83	0.80722	D	1	P;P	0.51240	0.927;0.943	B;B	0.44108	0.416;0.441	T	0.80241	-0.1464	10	0.42905	T	0.14	-10.2617	15.3322	0.74223	0.0665:0.0:0.9335:0.0	.	176;176	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	H	176	ENSP00000382779:R176H;ENSP00000262124:R176H	ENSP00000262124:R176H	R	+	2	0	SEH1L	12961157	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.244000	0.95423	1.578000	0.49821	-0.253000	0.11424	CGT	SEH1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000085415		0.433	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	131	0.00	0	G	NM_031216		12971157	12971157	+1	no_errors	ENST00000399892	ensembl	human	known	69_37n	missense	117	37.43	70	SNP	1.000	A
SH3D19	152503	genome.wustl.edu	37	4	152096472	152096472	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr4:152096472G>T	ENST00000409252.2	-	6	751	c.44C>A	c.(43-45)tCc>tAc	p.S15Y	SH3D19_ENST00000304527.4_Missense_Mutation_p.S15Y|SH3D19_ENST00000514152.1_Missense_Mutation_p.S15Y|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000424281.1_Missense_Mutation_p.S15Y|SH3D19_ENST00000409598.4_Missense_Mutation_p.S15Y|SH3D19_ENST00000427414.2_Missense_Mutation_p.S15Y|SH3D19_ENST00000455740.1_Missense_Mutation_p.S15Y			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	15					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTAATTCTGGAAACAATACT	0.463																																						dbGAP											0													125.0	133.0	130.0					4																	152096472		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.44C>A	4.37:g.152096472G>T	ENSP00000386848:p.Ser15Tyr		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain	p.S15Y	ENST00000409252.2	37	c.44	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139197	0.77775	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18	6.13	6.13	0.99165	.	3.929570	0.01586	U	0.021320	T	0.38134	0.1029	M	0.64997	1.995	0.47511	D	0.999441	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.05007	-1.0912	10	0.87932	D	0	-17.2782	20.8599	0.99761	0.0:0.0:1.0:0.0	.	15;15;15	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	Y	15	ENSP00000387030:S15Y;ENSP00000302913:S15Y;ENSP00000416708:S15Y;ENSP00000404542:S15Y;ENSP00000415694:S15Y;ENSP00000386848:S15Y;ENSP00000423449:S15Y	ENSP00000302913:S15Y	S	-	2	0	SH3D19	152315922	1.000000	0.71417	0.984000	0.44739	0.802000	0.45316	6.774000	0.75012	2.937000	0.99478	0.650000	0.86243	TCC	SH3D19	-	NULL	ENSG00000109686		0.463	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	119	0.83	1	G	NM_001009555		152096472	152096472	-1	no_errors	ENST00000304527	ensembl	human	known	69_37n	missense	99	35.71	55	SNP	1.000	T
STAT4	6775	genome.wustl.edu	37	2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr2:191922752G>A	ENST00000392320.2	-	13	1512	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	400					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R400*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363																																						dbGAP											1	Substitution - Nonsense(1)	prostate(1)											76.0	76.0	76.0					2																	191922752		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1198C>T	2.37:g.191922752G>A	ENSP00000376134:p.Arg400*		Q96NZ6	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R400*	ENST00000392320.2	37	c.1198	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.638565	0.98406	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.38	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.9759	13.3789	0.60757	0.0:0.0:0.5118:0.4882	.	.	.	.	X	400	.	ENSP00000351255:R400X	R	-	1	2	STAT4	191630997	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.817000	0.48034	0.666000	0.31087	0.585000	0.79938	CGA	STAT4	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000138378		0.363	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	73	0.00	0	G	NM_003151		191922752	191922752	-1	no_errors	ENST00000358470	ensembl	human	known	69_37n	nonsense	98	27.21	37	SNP	1.000	A
ZNF804B	219578	genome.wustl.edu	37	7	88964843	88964843	+	Silent	SNP	T	T	C			TCGA-B6-A0X0-01A-21D-A10Y-09	TCGA-B6-A0X0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	264fb6ef-65be-48fd-8216-6c493b620ad8	daa07354-8687-4350-9d9c-d95db1a71517	g.chr7:88964843T>C	ENST00000333190.4	+	4	3156	c.2547T>C	c.(2545-2547)acT>acC	p.T849T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	849							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCAGGGAACTCAGCACGACA	0.383										HNSCC(36;0.09)																												dbGAP											0													60.0	60.0	60.0					7																	88964843		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2547T>C	7.37:g.88964843T>C			B2RTV2|Q7Z714|Q96MN7	Silent	SNP	pfam_Znf_C2H2_jaz	p.T849	ENST00000333190.4	37	c.2547	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	29	0.00	0	T	NM_181646		88964843	88964843	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.000	C
