#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CDC42BPG	55561	genome.wustl.edu	37	11	64591956	64591956	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr11:64591956T>G	ENST00000342711.5	-	37	4644	c.4645A>C	c.(4645-4647)Agc>Cgc	p.S1549R		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CAAGGAGAGCTCTCCAATTCA	0.567																																						dbGAP											0													56.0	59.0	58.0					11																	64591956		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4645A>C	11.37:g.64591956T>G	ENSP00000345133:p.Ser1549Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1549R	ENST00000342711.5	37	c.4645	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	T	9.073	0.997397	0.19043	.	.	ENSG00000171219	ENST00000342711	T	0.70282	-0.47	4.33	0.512	0.16994	.	0.156954	0.30244	N	0.010065	T	0.61565	0.2357	L	0.57536	1.79	0.21950	N	0.999452	B	0.22909	0.077	B	0.23716	0.048	T	0.55471	-0.8136	10	0.62326	D	0.03	.	6.7191	0.23321	0.0:0.2986:0.0:0.7014	.	1549	Q6DT37	MRCKG_HUMAN	R	1549	ENSP00000345133:S1549R	ENSP00000345133:S1549R	S	-	1	0	CDC42BPG	64348532	0.913000	0.31002	0.185000	0.23176	0.077000	0.17291	0.850000	0.27737	-0.093000	0.12396	0.454000	0.30748	AGC	CDC42BPG	-	NULL	ENSG00000171219		0.567	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	177	0.56	1	T	XM_290516		64591956	64591956	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	missense	87	25.00	29	SNP	0.754	G
CDH1	999	genome.wustl.edu	37	16	68845694	68845694	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr16:68845694delA	ENST00000261769.5	+	7	1131	c.940delA	c.(940-942)aaafs	p.K314fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.K314fs|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	314	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCTCCCTGACAAAAATATGTT	0.542			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)											112.0	96.0	101.0					16																	68845694		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.940delA	16.37:g.68845694delA	ENSP00000261769:p.Lys314fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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.N315fs	ENST00000261769.5	37	c.940	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.542	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	137	0.00	0	A	NM_004360		68845694	68845694	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	47	33.33	24	DEL	0.000	-
DNTT	1791	genome.wustl.edu	37	10	98092128	98092128	+	Silent	SNP	C	C	T			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr10:98092128C>T	ENST00000371174.2	+	9	1236	c.1134C>T	c.(1132-1134)gaC>gaT	p.D378D	DNTT_ENST00000419175.1_Silent_p.D378D			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	378	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TATATTATGACCTTGTGGAGT	0.373																																						dbGAP											0													84.0	85.0	85.0					10																	98092128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1134C>T	10.37:g.98092128C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FH1|Q5W103|Q96E50	Silent	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.D378	ENST00000371174.2	37	c.1134	CCDS7447.1	10																																																																																			DNTT	-	pfam_Nucleotidyltransferase,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase	ENSG00000107447		0.373	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	317	0.00	0	C	NM_004088		98092128	98092128	+1	no_errors	ENST00000371174	ensembl	human	known	69_37n	silent	94	35.17	51	SNP	0.984	T
EPS15	2060	genome.wustl.edu	37	1	51864825	51864825	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr1:51864825C>A	ENST00000371733.3	-	20	2027	c.1931G>T	c.(1930-1932)gGt>gTt	p.G644V	EPS15_ENST00000396122.4_Missense_Mutation_p.G321V|EPS15_ENST00000371730.2_Missense_Mutation_p.G510V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	644	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GAAAGGATCACCACCAAATGG	0.383			T	MLL	ALL																																	dbGAP		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											103.0	98.0	99.0					1																	51864825		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1931G>T	1.37:g.51864825C>A	ENSP00000360798:p.Gly644Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.G644V	ENST00000371733.3	37	c.1931	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512383	0.64522	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.16743	2.32;2.32;2.32	5.44	5.44	0.79542	.	.	.	.	.	T	0.42988	0.1227	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	P;D;D	0.74023	0.873;0.964;0.982	T	0.11542	-1.0583	9	0.25751	T	0.34	.	19.2655	0.93983	0.0:1.0:0.0:0.0	.	510;644;330	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	V	510;644;321	ENSP00000360795:G510V;ENSP00000360798:G644V;ENSP00000379428:G321V	ENSP00000360795:G510V	G	-	2	0	EPS15	51637413	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.624000	0.54231	2.561000	0.86390	0.491000	0.48974	GGT	EPS15	-	NULL	ENSG00000085832		0.383	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	146	0.68	1	C	NM_001981		51864825	51864825	-1	no_errors	ENST00000371733	ensembl	human	known	69_37n	missense	69	28.12	27	SNP	1.000	A
FAM214A	56204	genome.wustl.edu	37	15	52901580	52901580	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr15:52901580G>C	ENST00000261844.7	-	6	1683	c.1531C>G	c.(1531-1533)Cat>Gat	p.H511D	FAM214A_ENST00000546305.2_Missense_Mutation_p.H518D	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	511																	CTGGAGTCATGCATGTTGAAT	0.413																																						dbGAP											0													164.0	161.0	162.0					15																	52901580		1946	4135	6081	-	-	-	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1531C>G	15.37:g.52901580G>C	ENSP00000261844:p.His511Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.H511D	ENST00000261844.7	37	c.1531	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464722	0.12402	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.29917	1.56;1.55	5.87	3.91	0.45181	.	0.568282	0.22206	N	0.063175	T	0.24314	0.0589	L	0.32530	0.975	0.09310	N	1	B;B	0.32753	0.383;0.265	B;B	0.34242	0.178;0.086	T	0.21586	-1.0241	10	0.72032	D	0.01	.	10.1822	0.42975	0.0661:0.0:0.6703:0.2635	.	518;511	F5H8G0;Q32MH5	.;K1370_HUMAN	D	511;511;510;518	ENSP00000261844:H511D;ENSP00000443598:H518D	ENSP00000261844:H511D	H	-	1	0	KIAA1370	50688872	0.036000	0.19791	0.003000	0.11579	0.460000	0.32559	1.084000	0.30828	1.625000	0.50366	0.655000	0.94253	CAT	FAM214A	-	NULL	ENSG00000047346		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	105	0.00	0	G	NM_019600		52901580	52901580	-1	no_errors	ENST00000261844	ensembl	human	known	69_37n	missense	55	28.57	22	SNP	0.000	C
SPATA31D5P	347127	genome.wustl.edu	37	9	84532898	84532898	+	RNA	SNP	G	G	T			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr9:84532898G>T	ENST00000527857.1	+	0	2920					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCAAAGATGGGGTCTCTAAGT	0.438																																						dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532898G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.438	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	53	0.00	0	G	NR_026851		84532898	84532898	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	19	17.39	4	SNP	0.000	T
FOXK1	221937	genome.wustl.edu	37	7	4780597	4780597	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr7:4780597C>T	ENST00000328914.4	+	2	689	c.689C>T	c.(688-690)cCg>cTg	p.P230L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P67L	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ATCCACATCCCGGAGCCGGAC	0.657																																						dbGAP											0													59.0	64.0	63.0					7																	4780597		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.689C>T	7.37:g.4780597C>T	ENSP00000328720:p.Pro230Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.P230L	ENST00000328914.4	37	c.689	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.222594	0.95139	.	.	ENSG00000164916	ENST00000446823;ENST00000328914;ENST00000545598	D;D	0.97378	-4.3;-4.36	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.99323	1.0907	10	0.72032	D	0.01	.	17.8708	0.88810	0.0:1.0:0.0:0.0	.	230;113;67	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	L	67;230;113	ENSP00000394442:P67L;ENSP00000328720:P230L	ENSP00000328720:P230L	P	+	2	0	FOXK1	4747123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.684000	0.84104	2.449000	0.82847	0.563000	0.77884	CCG	FOXK1	-	NULL	ENSG00000164916		0.657	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	65	0.00	0	C			4780597	4780597	+1	no_errors	ENST00000328914	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	T
GOT1L1	137362	genome.wustl.edu	37	8	37792595	37792595	+	Silent	SNP	G	G	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr8:37792595G>A	ENST00000307599.4	-	8	1167	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	GOT1L1_ENST00000518826.1_Silent_p.L97L	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	356					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCTTACAGTTGAGTCCAAGAT	0.532																																						dbGAP											0													61.0	65.0	64.0					8																	37792595		1886	4093	5979	-	-	-	SO:0001819	synonymous_variant	0			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1068C>T	8.37:g.37792595G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWL4	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.L356	ENST00000307599.4	37	c.1068	CCDS47839.1	8																																																																																			GOT1L1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	ENSG00000169154		0.532	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	HGNC	protein_coding	OTTHUMT00000376823.1	162	0.00	0	G	NM_152413		37792595	37792595	-1	no_errors	ENST00000307599	ensembl	human	known	69_37n	silent	81	20.59	21	SNP	0.988	A
MAMDC2	256691	genome.wustl.edu	37	9	72727930	72727930	+	Silent	SNP	T	T	C			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr9:72727930T>C	ENST00000377182.4	+	5	1142	c.525T>C	c.(523-525)aaT>aaC	p.N175N	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	175	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGAAGAAAATCATCTCTGTG	0.463																																						dbGAP											0													134.0	125.0	128.0					9																	72727930		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.525T>C	9.37:g.72727930T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW47|Q8WX43|Q96BM4	Silent	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom	p.N175	ENST00000377182.4	37	c.525	CCDS6631.1	9																																																																																			MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000165072		0.463	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	320	0.00	0	T	NM_153267		72727930	72727930	+1	no_errors	ENST00000377182	ensembl	human	known	69_37n	silent	124	25.30	42	SNP	0.943	C
KMT2A	4297	genome.wustl.edu	37	11	118354912	118354912	+	Silent	SNP	G	G	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr11:118354912G>A	ENST00000389506.5	+	9	4101	c.4101G>A	c.(4099-4101)ccG>ccA	p.P1367P	KMT2A_ENST00000534358.1_Silent_p.P1367P|KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000354520.4_Silent_p.P1367P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1367					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AACCACCTCCGGTCAATAAGC	0.398																																						dbGAP											0													101.0	95.0	97.0					11																	118354912		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4101G>A	11.37:g.118354912G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P1367	ENST00000389506.5	37	c.4101	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.398	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	220	0.00	0	G	NM_005933		118354912	118354912	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	81	24.30	26	SNP	0.002	A
MUC16	94025	genome.wustl.edu	37	19	9085518	9085518	+	Silent	SNP	A	A	G			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr19:9085518A>G	ENST00000397910.4	-	1	6500	c.6297T>C	c.(6295-6297)tcT>tcC	p.S2099S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2099	Ser-rich.|Thr-rich.				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						GCTTAGCAGCAGATGTGGATG	0.478																																						dbGAP											0													169.0	163.0	165.0					19																	9085518		1911	4122	6033	-	-	-	SO:0001819	synonymous_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.6297T>C	19.37:g.9085518A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S2099	ENST00000397910.4	37	c.6297	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	173	0.00	0	A	NM_024690		9085518	9085518	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	97	20.49	25	SNP	0.099	G
MYH9	4627	genome.wustl.edu	37	22	36695005	36695005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr22:36695005delC	ENST00000216181.5	-	24	3290	c.3060delG	c.(3058-3060)aagfs	p.K1020fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1020					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGTTCTTGAGCTTGGCGAGGC	0.557			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													230.0	186.0	201.0					22																	36695005		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3060delG	22.37:g.36695005delC	ENSP00000216181:p.Lys1020fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K1020fs	ENST00000216181.5	37	c.3060	CCDS13927.1	22																																																																																			MYH9	-	superfamily_Prefoldin	ENSG00000100345		0.557	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	533	0.00	0	C	NM_002473		36695005	36695005	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	frame_shift_del	217	24.40	71	DEL	1.000	-
PCGF6	84108	genome.wustl.edu	37	10	105107077	105107077	+	Intron	SNP	C	C	G			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr10:105107077C>G	ENST00000369847.3	-	5	681				PCGF6_ENST00000490296.1_Splice_Site|PCGF6_ENST00000337211.4_Intron	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6						negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		AAAACACAGACTAAATTACAC	0.313																																						dbGAP											0													86.0	87.0	87.0					10																	105107077		2203	4298	6501	-	-	-	SO:0001627	intron_variant	0			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.614-23G>C	10.37:g.105107077C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Splice_Site	SNP	-	NULL	ENST00000369847.3	37	c.NULL	CCDS31275.1	10																																																																																			PCGF6	-	-	ENSG00000156374		0.313	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1	363	0.00	0	C	NM_032154		105107077	105107077	-1	no_errors	ENST00000490296	ensembl	human	known	69_37n	splice_site	135	25.41	46	SNP	1.000	G
PLCB2	5330	genome.wustl.edu	37	15	40590117	40590117	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr15:40590117G>A	ENST00000260402.3	-	12	1448	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.P400L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P400L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	400	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GATGGGATAGGGGGAGGTCTT	0.542																																						dbGAP											0													104.0	123.0	117.0					15																	40590117		2145	4255	6400	-	-	-	SO:0001583	missense	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1199C>T	15.37:g.40590117G>A	ENSP00000260402:p.Pro400Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P400L	ENST00000260402.3	37	c.1199	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995940	0.35226	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.55588	0.51;0.51	4.87	3.95	0.45737	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.327233	0.34223	N	0.004157	T	0.55561	0.1928	M	0.82323	2.585	0.80722	D	1	B;B;B	0.23249	0.064;0.003;0.082	B;B;B	0.22601	0.019;0.006;0.04	T	0.60757	-0.7200	10	0.52906	T	0.07	.	12.7281	0.57183	0.1319:0.0:0.8681:0.0	.	400;400;400	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	L	400	ENSP00000260402:P400L;ENSP00000411991:P400L	ENSP00000260402:P400L	P	-	2	0	PLCB2	38377409	0.991000	0.36638	0.982000	0.44146	0.633000	0.38033	2.089000	0.41672	2.700000	0.92200	0.563000	0.77884	CCC	PLCB2	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000137841		0.542	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	324	0.31	1	G			40590117	40590117	-1	no_errors	ENST00000260402	ensembl	human	known	69_37n	missense	116	29.70	49	SNP	0.868	A
PUS7L	83448	genome.wustl.edu	37	12	44130339	44130339	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr12:44130339G>A	ENST00000416848.2	-	7	2058	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	PUS7L_ENST00000551923.1_Missense_Mutation_p.H524Y|PUS7L_ENST00000431332.3_Missense_Mutation_p.H211Y|PUS7L_ENST00000344862.5_Missense_Mutation_p.H524Y	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	524	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CGCATGGAATGGGGTAAAGAG	0.468																																						dbGAP											0													178.0	144.0	156.0					12																	44130339		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1570C>T	12.37:g.44130339G>A	ENSP00000415899:p.His524Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.H524Y	ENST00000416848.2	37	c.1570	CCDS8743.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361571	0.82353	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.02	4.12	0.48240	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.049143	0.85682	N	0.000000	T	0.51805	0.1696	M	0.61703	1.905	0.58432	D	0.999999	P	0.49862	0.929	P	0.51999	0.687	T	0.54879	-0.8227	10	0.48119	T	0.1	-14.0224	14.0947	0.65013	0.0741:0.0:0.9259:0.0	.	524	Q9H0K6	PUS7L_HUMAN	Y	524;524;524;211	ENSP00000415899:H524Y;ENSP00000343081:H524Y;ENSP00000447706:H524Y;ENSP00000398497:H211Y	ENSP00000343081:H524Y	H	-	1	0	PUS7L	42416606	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.431000	0.73395	1.434000	0.47414	0.591000	0.81541	CAT	PUS7L	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	ENSG00000129317		0.468	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7L	HGNC	protein_coding	OTTHUMT00000403931.1	186	0.00	0	G	NM_031292		44130339	44130339	-1	no_errors	ENST00000344862	ensembl	human	known	69_37n	missense	105	17.97	23	SNP	1.000	A
RFPL1	5988	genome.wustl.edu	37	22	29837624	29837624	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr22:29837624G>A	ENST00000354373.2	+	2	676	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	156	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ACACAGAATCGGCAAGACCTT	0.557																																						dbGAP											0													149.0	128.0	135.0					22																	29837624		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.467G>A	22.37:g.29837624G>A	ENSP00000346342:p.Arg156Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IC06|Q9UJ97	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.R156Q	ENST00000354373.2	37	c.467	CCDS13857.2	22	.	.	.	.	.	.	.	.	.	.	-	7.399	0.632404	0.14322	.	.	ENSG00000128250	ENST00000354373	T	0.10477	2.87	0.932	-1.86	0.07760	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.09905	0.0243	L	0.38733	1.17	0.09310	N	1	D	0.57571	0.98	P	0.52159	0.691	T	0.15607	-1.0431	9	0.18276	T	0.48	.	2.4029	0.04406	0.2126:0.0:0.3166:0.4708	.	156	O75677	RFPL1_HUMAN	Q	156	ENSP00000346342:R156Q	ENSP00000346342:R156Q	R	+	2	0	RFPL1	28167624	0.010000	0.17322	0.000000	0.03702	0.017000	0.09413	1.833000	0.39161	-0.877000	0.04012	0.187000	0.17357	CGG	RFPL1	-	superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000128250		0.557	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1	HGNC	protein_coding	OTTHUMT00000318719.1	323	0.00	0	G	NM_021026		29837624	29837624	+1	no_errors	ENST00000354373	ensembl	human	known	69_37n	missense	143	28.86	58	SNP	0.000	A
RUNX1	861	genome.wustl.edu	37	21	36259157	36259157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr21:36259157delG	ENST00000344691.4	-	1	1830	c.253delC	c.(253-255)ctgfs	p.L85fs	RUNX1_ENST00000486278.2_Frame_Shift_Del_p.L88fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.L112fs|RUNX1_ENST00000399240.1_Frame_Shift_Del_p.L85fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.L112fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.L85fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.L100fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	85	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V90_K117del(1)|p.T111_L112insP(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GCGATGGGCAGGGTCTTGTTG	0.716			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Insertion - In frame(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)											56.0	54.0	54.0					21																	36259157		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.253delC	21.37:g.36259157delG	ENSP00000340690:p.Leu85fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Del	DEL	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L112fs	ENST00000344691.4	37	c.334	CCDS42922.1	21																																																																																			RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.716	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	57	0.00	0	G			36259157	36259157	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_del	22	21.43	6	DEL	1.000	-
RXFP3	51289	genome.wustl.edu	37	5	33937522	33937522	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr5:33937522C>T	ENST00000330120.3	+	1	1032	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	226					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCTTTGGCCGCGCTGGCCTCG	0.682																																						dbGAP											0													29.0	28.0	28.0					5																	33937522		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.677C>T	5.37:g.33937522C>T	ENSP00000328708:p.Ala226Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.A226V	ENST00000330120.3	37	c.677	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519013	0.00967	.	.	ENSG00000182631	ENST00000330120	T	0.36157	1.27	5.44	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.649776	0.15985	N	0.235114	T	0.12518	0.0304	N	0.02775	-0.495	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.32375	-0.9909	10	0.12103	T	0.63	-0.8518	6.9258	0.24414	0.0:0.35:0.0:0.65	.	226	Q9NSD7	RL3R1_HUMAN	V	226	ENSP00000328708:A226V	ENSP00000328708:A226V	A	+	2	0	RXFP3	33973279	0.001000	0.12720	0.077000	0.20336	0.087000	0.18053	1.362000	0.34148	0.265000	0.21872	0.655000	0.94253	GCG	RXFP3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182631		0.682	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	34	0.00	0	C	NM_016568		33937522	33937522	+1	no_errors	ENST00000330120	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.013	T
SARDH	1757	genome.wustl.edu	37	9	136531942	136531942	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr9:136531942A>C	ENST00000371872.4	-	20	2803	c.2546T>G	c.(2545-2547)gTg>gGg	p.V849G	SARDH_ENST00000371868.1_Missense_Mutation_p.V299G|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000422262.2_Missense_Mutation_p.V681G|SARDH_ENST00000439388.1_Missense_Mutation_p.V849G	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	849					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GACATGGCCCACCACTTGGCC	0.612																																						dbGAP											0													71.0	58.0	63.0					9																	136531942		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2546T>G	9.37:g.136531942A>C	ENSP00000360938:p.Val849Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.V849G	ENST00000371872.4	37	c.2546	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353377	0.61293	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	4.69	4.69	0.59074	Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.94169	0.7421	10	0.87932	D	0	-23.9952	14.1602	0.65441	1.0:0.0:0.0:0.0	.	849;299	Q9UL12;Q5SYV2	SARDH_HUMAN;.	G	849;299;849;681	ENSP00000360938:V849G;ENSP00000360934:V299G;ENSP00000403084:V849G;ENSP00000415537:V681G	ENSP00000360934:V299G	V	-	2	0	SARDH	135521763	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	8.877000	0.92386	1.755000	0.51935	0.374000	0.22700	GTG	SARDH	-	pfam_GCV_T_C	ENSG00000123453		0.612	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	77	0.00	0	A			136531942	136531942	-1	no_errors	ENST00000371872	ensembl	human	known	69_37n	missense	43	10.20	5	SNP	1.000	C
SERPINA1	5265	genome.wustl.edu	37	14	94847276	94847276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr14:94847276delT	ENST00000448921.1	-	5	1421	c.849delA	c.(847-849)aaafs	p.K283fs	SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.K283fs|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Frame_Shift_Del_p.K283fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	283					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTGCTGTAGTTTCCCCTCAT	0.498																																						dbGAP											0													155.0	147.0	150.0					14																	94847276		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.849delA	14.37:g.94847276delT	ENSP00000416066:p.Lys283fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.K283fs	ENST00000448921.1	37	c.849	CCDS9925.1	14																																																																																			SERPINA1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000197249		0.498	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	238	0.00	0	T	NM_001002235		94847276	94847276	-1	no_errors	ENST00000355814	ensembl	human	known	69_37n	frame_shift_del	111	25.66	39	DEL	0.004	-
SKOR1	390598	genome.wustl.edu	37	15	68118648	68118648	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr15:68118648G>A	ENST00000380035.2	+	2	540	c.482G>A	c.(481-483)cGc>cAc	p.R161H	SKOR1_ENST00000341418.5_Missense_Mutation_p.R347H|SKOR1_ENST00000389002.1_Missense_Mutation_p.R152H|SKOR1_ENST00000554054.1_Missense_Mutation_p.R133H|SKOR1_ENST00000554240.1_Missense_Mutation_p.R122H			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	161					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GAGGCCGAACGCCTGTGCAAG	0.657																																						dbGAP											0													67.0	62.0	64.0					15																	68118648		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.482G>A	15.37:g.68118648G>A	ENSP00000369374:p.Arg161His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.R161H	ENST00000380035.2	37	c.482		15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353454	0.82243	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.74	4.74	0.60224	.	0.180704	0.47093	D	0.000242	D	0.92893	0.7739	M	0.85945	2.785	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.94175	0.7427	10	0.87932	D	0	-24.2528	16.3123	0.82883	0.0:0.0:1.0:0.0	.	152	P84550-3	.	H	347;122;133;161;152	ENSP00000343200:R347H;ENSP00000451193:R122H;ENSP00000452361:R133H;ENSP00000369374:R161H;ENSP00000373654:R152H	ENSP00000343200:R347H	R	+	2	0	SKOR1	65905702	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	9.750000	0.98875	2.184000	0.69523	0.561000	0.74099	CGC	SKOR1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000188779		0.657	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	22	0.00	0	G	NM_001031807		68118648	68118648	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	A
SNX16	64089	genome.wustl.edu	37	8	82751846	82751846	+	Splice_Site	DEL	C	C	-			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr8:82751846delC	ENST00000345957.4	-	2	654		c.e2+1		SNX16_ENST00000396330.2_Splice_Site|SNX16_ENST00000353788.4_Splice_Site	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16						early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCAATACTTACAGTAAATTTA	0.338																																						dbGAP											0													107.0	108.0	108.0					8																	82751846		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.375+1G>-	8.37:g.82751846delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4D8|Q658L0|Q8N4U3	Splice_Site	DEL	-	e1+1	ENST00000345957.4	37	c.375+1	CCDS6234.1	8																																																																																			SNX16	-	-	ENSG00000104497		0.338	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX16	HGNC	protein_coding	OTTHUMT00000379929.1	172	0.00	0	C	NM_022133	Intron	82751846	82751846	-1	no_errors	ENST00000345957	ensembl	human	known	69_37n	splice_site_del	122	12.23	17	DEL	1.000	-
SOCS7	30837	genome.wustl.edu	37	17	36508490	36508490	+	Silent	SNP	A	A	G			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr17:36508490A>G	ENST00000577233.1	+	1	363	c.363A>G	c.(361-363)gaA>gaG	p.E121E	SOCS7_ENST00000331159.5_Silent_p.E121E	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	121					fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGGGCTTGGAATCGGAGGCCG	0.736																																						dbGAP											0													6.0	8.0	8.0					17																	36508490		1767	3336	5103	-	-	-	SO:0001819	synonymous_variant	0			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.363A>G	17.37:g.36508490A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCU2|Q0IJ63	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E121	ENST00000577233.1	37	c.363	CCDS32637.1	17																																																																																			SOCS7	-	NULL	ENSG00000174111		0.736	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS7	HGNC	protein_coding	OTTHUMT00000440486.4	8	0.00	0	A	XM_371052		36508490	36508490	+1	no_errors	ENST00000577233	ensembl	human	known	69_37n	silent	4	84.62	22	SNP	0.771	G
SPTY2D1	144108	genome.wustl.edu	37	11	18637556	18637556	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr11:18637556T>C	ENST00000336349.5	-	3	500	c.265A>G	c.(265-267)Aca>Gca	p.T89A	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	89										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTATCCTTTGTCCTCTTGGCC	0.438																																						dbGAP											0													185.0	161.0	169.0					11																	18637556		2199	4293	6492	-	-	-	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.265A>G	11.37:g.18637556T>C	ENSP00000337991:p.Thr89Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.T89A	ENST00000336349.5	37	c.265	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332244	0.60853	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.37584	1.19	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66779	-0.5837	10	0.72032	D	0.01	-11.4053	15.8291	0.78739	0.0:0.0:0.0:1.0	.	89	Q68D10	SPT2_HUMAN	A	89	ENSP00000337991:T89A	ENSP00000331447:T89A	T	-	1	0	SPTY2D1	18594132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.967000	0.87967	2.138000	0.66242	0.460000	0.39030	ACA	SPTY2D1	-	NULL	ENSG00000179119		0.438	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	426	0.00	0	T	NM_194285		18637556	18637556	-1	no_errors	ENST00000336349	ensembl	human	known	69_37n	missense	187	29.96	80	SNP	1.000	C
STARD7	56910	genome.wustl.edu	37	2	96861224	96861224	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr2:96861224C>G	ENST00000337288.5	-	2	737	c.354G>C	c.(352-354)caG>caC	p.Q118H	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	118	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GAGGGTGGTGCTGGACTCCAG	0.443																																						dbGAP											0													122.0	103.0	109.0					2																	96861224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.354G>C	2.37:g.96861224C>G	ENSP00000338030:p.Gln118His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.Q118H	ENST00000337288.5	37	c.354	CCDS2017.2	2	.	.	.	.	.	.	.	.	.	.	C	8.655	0.899214	0.17686	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.45668	0.91;0.89	5.62	1.44	0.22558	.	0.474507	0.19936	N	0.102746	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.15549	-1.0433	10	0.46703	T	0.11	-5.1158	11.1379	0.48386	0.0:0.7732:0.1327:0.094	.	118	Q9NQZ5	STAR7_HUMAN	H	118;17	ENSP00000338030:Q118H;ENSP00000409410:Q17H	ENSP00000338030:Q118H	Q	-	3	2	STARD7	96224951	0.000000	0.05858	0.016000	0.15963	0.535000	0.34838	-0.105000	0.10907	-0.039000	0.13602	0.655000	0.94253	CAG	STARD7	-	NULL	ENSG00000084090		0.443	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD7	HGNC	protein_coding	OTTHUMT00000252848.2	453	0.00	0	C			96861224	96861224	-1	no_errors	ENST00000337288	ensembl	human	known	69_37n	missense	183	27.67	70	SNP	0.039	G
TDRD9	122402	genome.wustl.edu	37	14	104492006	104492006	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr14:104492006C>T	ENST00000409874.4	+	26	2872	c.2824C>T	c.(2824-2826)Ccc>Tcc	p.P942S	TDRD9_ENST00000339063.5_Missense_Mutation_p.P942S	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	942					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGTGCCCTTGCCCACTCACCC	0.438																																						dbGAP											0													158.0	168.0	164.0					14																	104492006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2824C>T	14.37:g.104492006C>T	ENSP00000387303:p.Pro942Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P942S	ENST00000409874.4	37	c.2824	CCDS9987.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.019|0.019	-1.460551|-1.460551	0.01062|0.01062	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.09723	.|2.95;2.95	4.99|4.99	3.13|3.13	0.36017|0.36017	.|Maternal tudor protein (1);	.|0.338872	.|0.24759	.|N	.|0.035835	T|T	0.09335|0.09335	0.0230|0.0230	L|L	0.55743|0.55743	1.74|1.74	0.30622|0.30622	N|N	0.758355|0.758355	.|B;B	.|0.18610	.|0.029;0.003	.|B;B	.|0.17979	.|0.02;0.013	T|T	0.26467|0.26467	-1.0102|-1.0102	5|10	.|0.15066	.|T	.|0.55	.|.	6.0171|6.0171	0.19608|0.19608	0.1221:0.3854:0.4173:0.0752|0.1221:0.3854:0.4173:0.0752	.|.	.|942;942	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	V|S	668|942	.|ENSP00000387303:P942S;ENSP00000343545:P942S	.|ENSP00000343545:P942S	A|P	+|+	2|1	0|0	TDRD9|TDRD9	103561759|103561759	0.328000|0.328000	0.24687|0.24687	0.045000|0.045000	0.18777|0.18777	0.143000|0.143000	0.21401|0.21401	-0.141000|-0.141000	0.10327|0.10327	0.476000|0.476000	0.27440|0.27440	0.557000|0.557000	0.71058|0.71058	GCC|CCC	TDRD9	-	pfam_Tudor	ENSG00000156414		0.438	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	169	0.00	0	C	NM_153046		104492006	104492006	+1	no_errors	ENST00000409874	ensembl	human	known	69_37n	missense	100	23.08	30	SNP	0.864	T
TNRC6A	27327	genome.wustl.edu	37	16	24801088	24801088	+	Silent	SNP	C	C	T			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr16:24801088C>T	ENST00000395799.3	+	6	1254	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	TNRC6A_ENST00000315183.7_Silent_p.N375N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	375	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TATTAGAGAACAATGGACTTG	0.438																																						dbGAP											0													84.0	92.0	89.0					16																	24801088		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1125C>T	16.37:g.24801088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.N375	ENST00000395799.3	37	c.1125	CCDS10624.2	16																																																																																			TNRC6A	-	NULL	ENSG00000090905		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	137	0.00	0	C	NM_020847		24801088	24801088	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	silent	77	19.79	19	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179592332	179592332	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr2:179592332G>C	ENST00000591111.1	-	66	19246	c.19022C>G	c.(19021-19023)aCt>aGt	p.T6341S	TTN_ENST00000589042.1_Missense_Mutation_p.T6658S|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T5414S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13117	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACATCGTAGTACAAGAGTC	0.403																																						dbGAP											0													181.0	182.0	182.0					2																	179592332		2068	4220	6288	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19022C>G	2.37:g.179592332G>C	ENSP00000465570:p.Thr6341Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T5414S	ENST00000591111.1	37	c.16241		2	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144388	0.21205	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50292	0.1607	N	0.19112	0.55	0.80722	D	1	B	0.20550	0.046	B	0.17098	0.017	T	0.47774	-0.9091	9	0.87932	D	0	.	15.9021	0.79387	0.0:0.1344:0.8656:0.0	.	6341	Q8WZ42	TITIN_HUMAN	S	5414	ENSP00000343764:T5414S	ENSP00000343764:T5414S	T	-	2	0	TTN	179300577	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	3.003000	0.49505	2.840000	0.97914	0.655000	0.94253	ACT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	92	0.00	0	G	NM_133378		179592332	179592332	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	0.991	C
ZNF239	8187	genome.wustl.edu	37	10	44052156	44052156	+	Missense_Mutation	SNP	G	G	A	rs113213479		TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr10:44052156G>A	ENST00000306006.6	-	2	2024	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	ZNF239_ENST00000535642.1_Missense_Mutation_p.R458C|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Missense_Mutation_p.R458C|ZNF239_ENST00000426961.1_Missense_Mutation_p.R458C	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTCAGTTAGCGAGGATCTTTC	0.443																																						dbGAP											0													59.0	63.0	61.0					10																	44052156		2177	4295	6472	-	-	-	SO:0001583	missense	0			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.1372C>T	10.37:g.44052156G>A	ENSP00000307774:p.Arg458Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1G9|Q8TAS5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R458C	ENST00000306006.6	37	c.1372	CCDS41502.1	10	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482251	0.44147	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	3.66	-3.86	0.04230	Zinc finger, C2H2 (1);	.	.	.	.	T	0.06645	0.0170	L	0.52206	1.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42832	-0.9428	9	0.87932	D	0	.	1.3654	0.02200	0.2974:0.2486:0.3275:0.1265	.	458	Q16600	ZN239_HUMAN	C	458	ENSP00000307774:R458C;ENSP00000363569:R458C;ENSP00000398202:R458C;ENSP00000443907:R458C	ENSP00000307774:R458C	R	-	1	0	ZNF239	43372162	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.376000	0.20535	-0.890000	0.03945	-0.142000	0.14014	CGC	ZNF239	-	pfscan_Znf_C2H2	ENSG00000196793		0.443	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF239	HGNC	protein_coding	OTTHUMT00000047710.1	138	0.00	0	G			44052156	44052156	-1	no_errors	ENST00000306006	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	0.000	A
ZNF296	162979	genome.wustl.edu	37	19	45574978	45574978	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AT-01A-11D-A12Q-09	TCGA-AR-A1AT-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7e00d4fa-b951-44d8-8fbf-fc7b9f19772e	f4c41f30-2984-49b6-87a7-e27893a7fc71	g.chr19:45574978C>A	ENST00000303809.2	-	3	1523	c.1309G>T	c.(1309-1311)Ggc>Tgc	p.G437C		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	437					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCGTCATGCCGTGCATGCGG	0.672																																						dbGAP											0													56.0	60.0	59.0					19																	45574978		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.1309G>T	19.37:g.45574978C>A	ENSP00000302770:p.Gly437Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G437C	ENST00000303809.2	37	c.1309	CCDS12653.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407919	0.42715	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.07908	3.15	5.91	1.16	0.20824	.	0.109084	0.41500	D	0.000872	T	0.14917	0.0360	L	0.49126	1.545	0.48185	D	0.999602	D	0.89917	1.0	D	0.67548	0.952	T	0.06899	-1.0801	10	0.72032	D	0.01	-31.2945	2.3917	0.04379	0.155:0.5311:0.15:0.1638	.	437	Q8WUU4	ZN296_HUMAN	C	437;413	ENSP00000302770:G437C	ENSP00000302770:G437C	G	-	1	0	ZNF296	50266818	0.978000	0.34361	0.229000	0.23960	0.022000	0.10575	2.612000	0.46343	0.395000	0.25257	0.655000	0.94253	GGC	ZNF296	-	NULL	ENSG00000170684		0.672	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF296	HGNC	protein_coding	OTTHUMT00000457529.1	52	0.00	0	C	NM_145288		45574978	45574978	-1	no_errors	ENST00000303809	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.964	A
