#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC1	4363	genome.wustl.edu	37	16	16219730	16219730	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:16219730G>A	ENST00000399410.3	+	26	3956	c.3781G>A	c.(3781-3783)Gtg>Atg	p.V1261M	ABCC1_ENST00000351154.5_Missense_Mutation_p.V1202M|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1146M|ABCC1_ENST00000399408.2_Missense_Mutation_p.V1271M|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1205M|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1261M	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1261					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CATCGTGGCCGTGGAGAGGCT	0.517																																						dbGAP											0													70.0	72.0	71.0					16																	16219730		1978	4180	6158	-	-	-	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3781G>A	16.37:g.16219730G>A	ENSP00000382342:p.Val1261Met		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.V1271M	ENST00000399410.3	37	c.3811	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430568	0.83776	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	4.68	4.68	0.58851	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	L	0.53617	1.68	0.58432	D	0.999996	D;D;D;D;D;D	0.76494	0.994;0.999;0.995;0.983;0.991;0.995	P;D;P;P;P;P	0.64687	0.843;0.928;0.889;0.787;0.777;0.889	D	0.92371	0.5905	10	0.87932	D	0	-27.3662	16.975	0.86310	0.0:0.0:1.0:0.0	.	1146;1261;1205;1202;1261;1271	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	M	1261;1271;1205;1202;1261;1146;945	ENSP00000382342:V1261M;ENSP00000382340:V1271M;ENSP00000263019:V1205M;ENSP00000263017:V1202M;ENSP00000263014:V1261M;ENSP00000263016:V1146M	ENSP00000263014:V1261M	V	+	1	0	ABCC1	16127231	1.000000	0.71417	0.941000	0.38009	0.703000	0.40648	9.779000	0.99018	2.320000	0.78422	0.591000	0.81541	GTG	ABCC1	-	superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.517	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	67	0.00	0	G	NM_004996		16219730	16219730	+1	no_errors	ENST00000399408	ensembl	human	known	69_37n	missense	52	39.53	34	SNP	1.000	A
ACAD10	80724	genome.wustl.edu	37	12	112153693	112153693	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:112153693C>T	ENST00000313698.4	+	7	1074	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R307C|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.R338C	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	307						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTGGCTAATCGTGATCTAGT	0.488																																						dbGAP											0													188.0	183.0	185.0					12																	112153693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.919C>T	12.37:g.112153693C>T	ENSP00000325137:p.Arg307Cys		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.R338C	ENST00000313698.4	37	c.1012	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317160	0.40996	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.32753	1.44;1.44;1.44	5.1	4.2	0.49525	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.543088	0.20696	N	0.087367	T	0.53674	0.1811	M	0.92880	3.355	0.24866	N	0.992317	D;P;D;D	0.67145	0.995;0.78;0.996;0.995	P;B;P;P	0.54924	0.764;0.188;0.761;0.648	T	0.56202	-0.8018	10	0.72032	D	0.01	.	8.6517	0.34038	0.1501:0.7716:0.0:0.0784	.	338;45;307;307	G3XAJ0;F8W0Q4;Q6JQN1;Q6JQN1-2	.;.;ACD10_HUMAN;.	C	307;307;338;307;45;45	ENSP00000446959:R307C;ENSP00000389813:R338C;ENSP00000325137:R307C	ENSP00000325137:R307C	R	+	1	0	ACAD10	110638076	0.015000	0.18098	0.024000	0.17045	0.228000	0.25075	2.517000	0.45529	1.263000	0.44181	0.655000	0.94253	CGT	ACAD10	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000111271		0.488	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	138	0.00	0	C	NM_025247		112153693	112153693	+1	no_errors	ENST00000455480	ensembl	human	known	69_37n	missense	122	22.29	35	SNP	0.026	T
ANKRD20A4	728747	genome.wustl.edu	37	9	69423641	69423641	+	Missense_Mutation	SNP	T	T	G	rs201906409		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr9:69423641T>G	ENST00000357336.3	+	15	2218	c.1937T>G	c.(1936-1938)aTg>aGg	p.M646R		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	646										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CAAGTAGAAATGAGTTCTGCT	0.338																																						dbGAP											0													8.0	14.0	12.0					9																	69423641		1920	4059	5979	-	-	-	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1937T>G	9.37:g.69423641T>G	ENSP00000349891:p.Met646Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M646R	ENST00000357336.3	37	c.1937	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	T	1.910	-0.450924	0.04572	.	.	ENSG00000172014	ENST00000357336	T	0.16743	2.32	2.26	2.26	0.28386	.	.	.	.	.	T	0.20414	0.0491	M	0.79258	2.445	0.22199	N	0.9993	B	0.27229	0.172	B	0.17979	0.02	T	0.17198	-1.0377	9	0.72032	D	0.01	.	8.0702	0.30685	0.0:0.0:0.0:1.0	.	646	Q4UJ75	A20A4_HUMAN	R	646	ENSP00000349891:M646R	ENSP00000349891:M646R	M	+	2	0	ANKRD20A4	68713461	1.000000	0.71417	0.114000	0.21550	0.004000	0.04260	2.957000	0.49137	1.033000	0.39918	0.155000	0.16302	ATG	ANKRD20A4	-	NULL	ENSG00000172014		0.338	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	24	0.00	0	T	NM_001098805		69423641	69423641	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	missense	200	22.18	57	SNP	0.903	G
APOBR	55911	genome.wustl.edu	37	16	28506761	28506761	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:28506761C>G	ENST00000431282.1	+	2	409	c.399C>G	c.(397-399)agC>agG	p.S133R	CLN3_ENST00000569430.1_5'UTR|CLN3_ENST00000567160.1_5'UTR|APOBR_ENST00000564831.1_Missense_Mutation_p.S133R|APOBR_ENST00000328423.5_Missense_Mutation_p.S133R			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	133					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGAGCCAAGCGCCCACTTGG	0.652																																						dbGAP											0													11.0	15.0	13.0					16																	28506761		1966	4129	6095	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.399C>G	16.37:g.28506761C>G	ENSP00000416094:p.Ser133Arg		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.S133R	ENST00000431282.1	37	c.399		16	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245055	0.22796	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58940	0.3;0.3	4.91	-0.251	0.13003	.	.	.	.	.	T	0.32912	0.0845	N	0.19112	0.55	0.09310	N	1	B	0.17852	0.024	B	0.24155	0.051	T	0.19418	-1.0306	9	0.20046	T	0.44	-1.5282	0.1208	0.00064	0.3081:0.1856:0.1595:0.3468	.	133	Q9NS13	.	R	133	ENSP00000327669:S133R;ENSP00000416094:S133R	ENSP00000327669:S133R	S	+	3	2	APOBR	28414262	0.000000	0.05858	0.445000	0.26908	0.091000	0.18340	-0.277000	0.08502	0.294000	0.22547	-0.362000	0.07510	AGC	APOBR	-	NULL	ENSG00000184730		0.652	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		40	0.00	0	C	NM_182804		28506761	28506761	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	0.010	G
ATXN1L	342371	genome.wustl.edu	37	16	71884325	71884325	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:71884325C>G	ENST00000427980.2	+	3	975	c.682C>G	c.(682-684)Ccc>Gcc	p.P228A	ATXN1L_ENST00000569119.1_Intron	NM_001137675.3	NP_001131147.1	P0C7T5	ATX1L_HUMAN	ataxin 1-like	228	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)	4						AGGTCGGATGCCCATTTATTA	0.547																																						dbGAP											0													23.0	23.0	23.0					16																	71884325		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45523.1	16q22.2	2014-09-04			ENSG00000224470	ENSG00000224470			33279	protein-coding gene	gene with protein product	"""brother of ataxin 1"""	614301				16121196, 17322884, 21475249	Standard	NM_001137675		Approved	BOAT1	uc002fbd.3	P0C7T5	OTTHUMG00000176872	ENST00000427980.2:c.682C>G	16.37:g.71884325C>G	ENSP00000415822:p.Pro228Ala			Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.P228A	ENST00000427980.2	37	c.682	CCDS45523.1	16	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589924	0.46214	.	.	ENSG00000224470	ENST00000427980	T	0.41400	1.0	5.25	5.25	0.73442	.	.	.	.	.	T	0.30727	0.0774	L	0.27053	0.805	0.39894	D	0.973803	P	0.40970	0.734	B	0.32090	0.14	T	0.17048	-1.0382	9	0.39692	T	0.17	.	19.2172	0.93782	0.0:1.0:0.0:0.0	.	228	P0C7T5	ATX1L_HUMAN	A	228	ENSP00000415822:P228A	ENSP00000415822:P228A	P	+	1	0	ATXN1L	70441826	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.834000	0.62774	2.631000	0.89168	0.555000	0.69702	CCC	ATXN1L	-	NULL	ENSG00000224470		0.547	ATXN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1L	HGNC	protein_coding	OTTHUMT00000434171.1	51	0.00	0	C	NM_001137675.2		71884325	71884325	+1	no_errors	ENST00000427980	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	G
BSN	8927	genome.wustl.edu	37	3	49662490	49662490	+	Missense_Mutation	SNP	A	A	T	rs199855668		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr3:49662490A>T	ENST00000296452.4	+	2	421	c.307A>T	c.(307-309)Act>Tct	p.T103S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	103					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTCTGCTACCACTCCTGGCCA	0.602																																						dbGAP											0													42.0	45.0	44.0					3																	49662490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.307A>T	3.37:g.49662490A>T	ENSP00000296452:p.Thr103Ser		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.T103S	ENST00000296452.4	37	c.307	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	A	4.155	0.027149	0.08054	.	.	ENSG00000164061	ENST00000296452	T	0.16597	2.33	5.48	2.72	0.32119	.	0.662580	0.14140	N	0.338744	T	0.05960	0.0155	N	0.03608	-0.345	0.23266	N	0.998018	B	0.10296	0.003	B	0.08055	0.003	T	0.42899	-0.9424	10	0.12766	T	0.61	-0.7876	4.788	0.13234	0.3356:0.1478:0.5166:0.0	.	103	Q9UPA5	BSN_HUMAN	S	103	ENSP00000296452:T103S	ENSP00000296452:T103S	T	+	1	0	BSN	49637494	0.001000	0.12720	0.984000	0.44739	0.116000	0.19942	0.754000	0.26390	0.285000	0.22329	-0.468000	0.05107	ACT	BSN	-	NULL	ENSG00000164061		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	35	0.00	0	A	NM_003458		49662490	49662490	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	0.945	T
C2orf16	84226	genome.wustl.edu	37	2	27801199	27801201	+	In_Frame_Del	DEL	TTG	TTG	-	rs548173635|rs371892124		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr2:27801199_27801201delTTG	ENST00000408964.2	+	1	1811_1813	c.1760_1762delTTG	c.(1759-1764)attgta>ata	p.V588del		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	588						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGGTTTCAAATTGTAAAAACTAT	0.414																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1760_1762delTTG	2.37:g.27801199_27801201delTTG	ENSP00000386190:p.Val588del		B9EIQ4|Q53S01|Q8ND64|Q9H088	In_Frame_Del	DEL	NULL	p.V588in_frame_del	ENST00000408964.2	37	c.1760_1762	CCDS42666.1	2																																																																																			C2orf16	-	NULL	ENSG00000221843		0.414	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	62	0.00	0	TTG	NM_032266		27801199	27801201	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	in_frame_del	96	13.51	15	DEL	0.002:0.002:0.072	-
COG6	57511	genome.wustl.edu	37	13	40253739	40253739	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr13:40253739C>G	ENST00000455146.3	+	6	655	c.605C>G	c.(604-606)aCa>aGa	p.T202R	COG6_ENST00000416691.1_Missense_Mutation_p.T202R|COG6_ENST00000465775.1_3'UTR	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	202					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTCTTGCGTACAAATCAACAA	0.338																																						dbGAP											0													101.0	95.0	97.0					13																	40253739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.605C>G	13.37:g.40253739C>G	ENSP00000397441:p.Thr202Arg		Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	pfam_COG_su6	p.T202R	ENST00000455146.3	37	c.605	CCDS9370.1	13	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644235	0.87859	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.55760	0.5;0.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	M	0.86178	2.8	0.80722	D	1	D;P	0.60575	0.988;0.901	P;P	0.61201	0.885;0.717	T	0.69281	-0.5186	10	0.20046	T	0.44	-4.8911	19.1873	0.93649	0.0:1.0:0.0:0.0	.	223;202	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	R	202;233;202	ENSP00000403733:T202R;ENSP00000397441:T202R	ENSP00000255468:T233R	T	+	2	0	COG6	39151739	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.889000	0.75627	2.775000	0.95449	0.650000	0.86243	ACA	COG6	-	pfam_COG_su6	ENSG00000133103		0.338	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3	113	0.00	0	C			40253739	40253739	+1	no_errors	ENST00000455146	ensembl	human	known	69_37n	missense	96	42.51	71	SNP	1.000	G
COL18A1	80781	genome.wustl.edu	37	21	46911228	46911228	+	Splice_Site	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr21:46911228C>T	ENST00000359759.4	+	21	3423	c.3402C>T	c.(3400-3402)gaC>gaT	p.D1134D	COL18A1_ENST00000400337.2_Splice_Site_p.D719D|COL18A1_ENST00000355480.5_Splice_Site_p.D899D			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1134	Nonhelical region 5 (NC5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGGAGCAGGACGTAAGGACGC	0.706																																						dbGAP											0													17.0	22.0	20.0					21																	46911228		1913	4114	6027	-	-	-	SO:0001630	splice_region_variant	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3402+1C>T	21.37:g.46911228C>T			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.D1134	ENST00000359759.4	37	c.3402		21																																																																																			COL18A1	-	NULL	ENSG00000182871		0.706	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	14	0.00	0	C		Silent	46911228	46911228	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.261	T
COL25A1	84570	genome.wustl.edu	37	4	110221778	110221778	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr4:110221778T>G	ENST00000399132.1	-	3	858	c.328A>C	c.(328-330)Atc>Ctc	p.I110L	COL25A1_ENST00000399127.1_Missense_Mutation_p.I110L|COL25A1_ENST00000399126.1_Missense_Mutation_p.I110L|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCTTGCGATTCTTATTTTA	0.388																																						dbGAP											0													193.0	171.0	178.0					4																	110221778		1848	4105	5953	-	-	-	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.328A>C	4.37:g.110221778T>G	ENSP00000382083:p.Ile110Leu			Missense_Mutation	SNP	pfam_Collagen	p.I110L	ENST00000399132.1	37	c.328	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995479	0.35226	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.90844	-2.54;0.88;-2.74	5.38	4.21	0.49690	.	0.867498	0.09819	N	0.751801	D	0.83681	0.5307	L	0.27053	0.805	0.23043	N	0.998385	B;B;B	0.19200	0.034;0.005;0.001	B;B;B	0.16289	0.015;0.009;0.002	T	0.69217	-0.5203	9	.	.	.	2.6151	9.0939	0.36627	0.0:0.0849:0.0:0.9151	.	110;110;110	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	L	110	ENSP00000382083:I110L;ENSP00000382078:I110L;ENSP00000382077:I110L	.	I	-	1	0	COL25A1	110441227	0.997000	0.39634	0.954000	0.39281	0.993000	0.82548	1.470000	0.35354	0.999000	0.39023	0.528000	0.53228	ATC	COL25A1	-	NULL	ENSG00000188517		0.388	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	301	0.00	0	T	NM_032518		110221778	110221778	-1	no_errors	ENST00000399132	ensembl	human	known	69_37n	missense	251	13.15	38	SNP	0.985	G
DAK	26007	genome.wustl.edu	37	11	61112999	61112999	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:61112999G>C	ENST00000394900.3	+	15	1642	c.1413G>C	c.(1411-1413)tgG>tgC	p.W471C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	471	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCCCAGCCTGGTCTGCTGCCA	0.622																																						dbGAP											0													29.0	31.0	30.0					11																	61112999		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1413G>C	11.37:g.61112999G>C	ENSP00000378360:p.Trp471Cys		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	p.W471C	ENST00000394900.3	37	c.1413	CCDS8003.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689628	0.88735	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.34275	1.37;1.38	6.06	6.06	0.98353	Dak phosphatase (3);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.79475	2.455	0.80722	D	1	D;P	0.89917	1.0;0.915	D;P	0.81914	0.995;0.713	T	0.65307	-0.6200	10	0.87932	D	0	-13.5714	19.609	0.95594	0.0:0.0:1.0:0.0	.	471;471	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	C	471;470	ENSP00000378360:W471C;ENSP00000432539:W470C	ENSP00000378360:W471C	W	+	3	0	DAK	60869575	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.109000	0.94291	2.882000	0.98803	0.655000	0.94253	TGG	DAK	-	pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	ENSG00000149476		0.622	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4	41	0.00	0	G	NM_015533		61112999	61112999	+1	no_errors	ENST00000394900	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	1.000	C
DDX39A	10212	genome.wustl.edu	37	19	14523994	14523994	+	Nonsense_Mutation	SNP	G	G	T	rs191833585	byFrequency	TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:14523994G>T	ENST00000242776.4	-	2	140	c.39C>A	c.(37-39)taC>taA	p.Y13*	DDX39A_ENST00000592927.1_5'Flank|DDX39A_ENST00000454233.2_Nonsense_Mutation_p.Y13*	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	13					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CCTCTTCATCGTAATCCAAAA	0.527																																						dbGAP											0													80.0	81.0	81.0					19																	14523994		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.39C>A	19.37:g.14523994G>T	ENSP00000242776:p.Tyr13*		Q8N5M0|Q9BVP6|Q9H5W0	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y13*	ENST00000242776.4	37	c.39	CCDS12308.1	19	.	.	.	.	.	.	.	.	.	.	g	14.12	2.439270	0.43326	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	.	.	.	4.75	-9.24	0.00669	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.0452	15.4124	0.74937	0.6716:0.0:0.3284:0.0	.	.	.	.	X	56;13;13;13	.	ENSP00000242776:Y13X	Y	-	3	2	DDX39A	14384994	0.023000	0.18921	0.414000	0.26521	0.362000	0.29581	-0.901000	0.04093	-1.855000	0.01162	-1.139000	0.01908	TAC	DDX39A	-	NULL	ENSG00000123136		0.527	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	102	0.00	0	G	NM_138998		14523994	14523994	-1	no_errors	ENST00000242776	ensembl	human	known	69_37n	nonsense	88	12.00	12	SNP	0.247	T
EIF3F	8665	genome.wustl.edu	37	11	8016560	8016560	+	Silent	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:8016560C>T	ENST00000533626.1	+	8	1403	c.777C>T	c.(775-777)ccC>ccT	p.P259P	EIF3F_ENST00000537635.1_Silent_p.P274P|EIF3F_ENST00000309828.4_Silent_p.P259P|EIF3F_ENST00000449102.2_Silent_p.P110P					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTTAGCCCCAACAGAGTGA	0.522																																						dbGAP											0													75.0	68.0	70.0					11																	8016560		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.777C>T	11.37:g.8016560C>T				Silent	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.P274	ENST00000533626.1	37	c.822	CCDS7785.1	11																																																																																			EIF3F	-	NULL	ENSG00000175390		0.522	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF3F	HGNC	protein_coding	OTTHUMT00000385713.2	91	0.00	0	C	NM_003754		8016560	8016560	+1	no_errors	ENST00000537635	ensembl	human	known	69_37n	silent	51	32.00	24	SNP	1.000	T
ESRRG	2104	genome.wustl.edu	37	1	216896587	216896587	+	Splice_Site	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr1:216896587C>G	ENST00000408911.3	-	1	208	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	ESRRG_ENST00000366937.1_5'UTR|ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000391890.3_5'UTR|ESRRG_ENST00000493603.1_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	19				E -> K (in Ref. 4; AAQ93376). {ECO:0000305}.	gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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 positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GGTACCTACTCTTCCTCGTAG	0.478																																						dbGAP											0													88.0	86.0	86.0					1																	216896587		1887	4102	5989	-	-	-	SO:0001630	splice_region_variant	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.56+1G>C	1.37:g.216896587C>G			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E19Q	ENST00000408911.3	37	c.55	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169330	0.38315	.	.	ENSG00000196482	ENST00000408911	D	0.93366	-3.21	5.45	5.45	0.79879	.	0.427969	0.21090	U	0.080338	D	0.83390	0.5244	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79050	-0.1962	10	0.05721	T	0.95	.	18.869	0.92305	0.0:1.0:0.0:0.0	.	19	P62508	ERR3_HUMAN	Q	19	ENSP00000386171:E19Q	ENSP00000386171:E19Q	E	-	1	0	ESRRG	214963210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.309000	0.65774	2.544000	0.85801	0.591000	0.81541	GAG	ESRRG	-	NULL	ENSG00000196482		0.478	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	138	0.00	0	C	NM_206595	Missense_Mutation	216896587	216896587	-1	no_errors	ENST00000408911	ensembl	human	known	69_37n	missense	104	18.75	24	SNP	1.000	G
FAM118B	79607	genome.wustl.edu	37	11	126110852	126110852	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:126110852T>G	ENST00000533050.1	+	4	745	c.252T>G	c.(250-252)gaT>gaG	p.D84E	FAM118B_ENST00000360194.4_Missense_Mutation_p.D84E|FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000529731.1_Missense_Mutation_p.D84E	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	84										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TTTTAGAAGATGAGGAGAGCA	0.463																																						dbGAP											0													149.0	156.0	154.0					11																	126110852		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.252T>G	11.37:g.126110852T>G	ENSP00000433343:p.Asp84Glu		Q9H7B0	Missense_Mutation	SNP	NULL	p.D84E	ENST00000533050.1	37	c.252	CCDS8470.1	11	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284557	0.10513	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.42131	1.45;1.45;0.98;1.45;0.98;0.98	6.08	2.51	0.30379	.	0.097704	0.64402	N	0.000001	T	0.14787	0.0357	N	0.03608	-0.345	0.43103	D	0.994791	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.003;0.005;0.005	T	0.08006	-1.0743	10	0.08599	T	0.76	-16.1469	4.9261	0.13894	0.0:0.2095:0.28:0.5104	.	84;84;84	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	E	84	ENSP00000433343:D84E;ENSP00000434952:D84E;ENSP00000432712:D84E;ENSP00000353321:D84E;ENSP00000437285:D84E;ENSP00000435754:D84E	ENSP00000353321:D84E	D	+	3	2	FAM118B	125616062	0.976000	0.34144	1.000000	0.80357	0.917000	0.54804	0.038000	0.13862	0.524000	0.28502	0.482000	0.46254	GAT	FAM118B	-	NULL	ENSG00000197798		0.463	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM118B	HGNC	protein_coding	OTTHUMT00000386346.1	74	0.00	0	T	NM_024556		126110852	126110852	+1	no_errors	ENST00000533050	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	G
FAM96B	51647	genome.wustl.edu	37	16	66966114	66966114	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:66966114G>A	ENST00000422424.2	-	5	519	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	CES2_ENST00000317091.4_5'Flank|CES2_ENST00000417689.1_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	162					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCTCAGGAGCGGGCTGACAGG	0.557																																						dbGAP											0													47.0	53.0	51.0					16																	66966114		1985	4165	6150	-	-	-	SO:0001583	missense	0				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.484C>T	16.37:g.66966114G>A	ENSP00000387471:p.Arg162Cys			Missense_Mutation	SNP	pfam_DUF59	p.R162C	ENST00000422424.2	37	c.484	CCDS45506.1	16	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636644	0.47049	.	.	ENSG00000166595	ENST00000422424	.	.	.	5.52	4.56	0.56223	.	0.107325	0.64402	D	0.000008	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	B	0.27594	0.182	B	0.14023	0.01	T	0.47249	-0.9132	9	0.72032	D	0.01	-9.1218	12.509	0.55997	0.0:0.0:0.697:0.303	.	162	Q9Y3D0	MIP18_HUMAN	C	162	.	ENSP00000387471:R162C	R	-	1	0	FAM96B	65523615	1.000000	0.71417	0.965000	0.40720	0.762000	0.43233	2.865000	0.48412	1.551000	0.49450	0.563000	0.77884	CGC	FAM96B	-	NULL	ENSG00000166595		0.557	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	FAM96B	HGNC	protein_coding	OTTHUMT00000429890.1	75	0.00	0	G	NM_016062		66966114	66966114	-1	no_errors	ENST00000422424	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	0.980	A
FBN1	2200	genome.wustl.edu	37	15	48780678	48780678	+	Missense_Mutation	SNP	C	C	T	rs137854481		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr15:48780678C>T	ENST00000316623.5	-	26	3550	c.3095G>A	c.(3094-3096)tGc>tAc	p.C1032Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1032	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATCATCTTGCACTCATTGAT	0.443																																						dbGAP											0			GRCh37	CM010036	FBN1	M	rs137854481						83.0	80.0	81.0					15																	48780678		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3095G>A	15.37:g.48780678C>T	ENSP00000325527:p.Cys1032Tyr		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.C1032Y	ENST00000316623.5	37	c.3095	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969455	0.92855	.	.	ENSG00000166147	ENST00000316623	D	0.99445	-5.91	6.17	6.17	0.99709	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.99197	4.465	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96937	0.9685	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	rs28929501	1032	P35555	FBN1_HUMAN	Y	1032	ENSP00000325527:C1032Y	ENSP00000325527:C1032Y	C	-	2	0	FBN1	46567970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGC	FBN1	-	pfam_EGF-like_Ca-bd,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	79	0.00	0	C			48780678	48780678	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	T
FERD3L	222894	genome.wustl.edu	37	7	19184661	19184661	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr7:19184661G>A	ENST00000275461.3	-	1	383	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	109	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTCCTTTCGCGGATGTTGGCG	0.597																																						dbGAP											0													91.0	76.0	81.0					7																	19184661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.325C>T	7.37:g.19184661G>A	ENSP00000275461:p.Arg109Cys		Q495K0	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R109C	ENST00000275461.3	37	c.325	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051872	0.75960	.	.	ENSG00000146618	ENST00000275461	D	0.98345	-4.88	5.66	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98119	1.0424	10	0.87932	D	0	-3.6047	13.2798	0.60208	0.0:0.0:0.6659:0.3341	.	109	Q96RJ6	FER3L_HUMAN	C	109	ENSP00000275461:R109C	ENSP00000275461:R109C	R	-	1	0	FERD3L	19151186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.205000	0.42770	2.693000	0.91896	0.650000	0.86243	CGC	FERD3L	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000146618		0.597	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	118	0.00	0	G			19184661	19184661	-1	no_errors	ENST00000275461	ensembl	human	known	69_37n	missense	61	13.89	10	SNP	1.000	A
FRG1	2483	genome.wustl.edu	37	4	190874281	190874281	+	Splice_Site	SNP	G	G	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr4:190874281G>T	ENST00000226798.4	+	4	539		c.e4+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTGATTCCAGGTGAGCTTATG	0.308																																						dbGAP											0													11.0	11.0	11.0					4																	190874281		2073	4199	6272	-	-	-	SO:0001630	splice_region_variant	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.317+1G>T	4.37:g.190874281G>T			A8K775	Splice_Site	SNP	-	e4+1	ENST00000226798.4	37	c.317+1	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	N	16.60	3.167697	0.57476	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.53	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4576	0.61208	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191111275	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.872000	0.92352	1.917000	0.55516	0.632000	0.83419	.	FRG1	-	-	ENSG00000109536		0.308	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	86	0.00	0	G	NM_004477	Intron	190874281	190874281	+1	no_errors	ENST00000226798	ensembl	human	known	69_37n	splice_site	213	16.47	42	SNP	1.000	T
GRIN2B	2904	genome.wustl.edu	37	12	13716276	13716276	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:13716276C>T	ENST00000609686.1	-	13	4105	c.3896G>A	c.(3895-3897)cGc>cAc	p.R1299H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1299	Interaction with DAPK1. {ECO:0000250}.				behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGCTGCCGGCGCAGTTTGTT	0.607																																						dbGAP											0													95.0	105.0	102.0					12																	13716276		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3896G>A	12.37:g.13716276C>T	ENSP00000477455:p.Arg1299His		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R1299H	ENST00000609686.1	37	c.3896	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830560	0.32329	.	.	ENSG00000150086	ENST00000279593	T	0.13538	2.58	4.7	4.7	0.59300	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	L	0.36672	1.1	0.53005	D	0.999966	B	0.14805	0.011	B	0.14578	0.011	T	0.07083	-1.0791	10	0.32370	T	0.25	.	11.6617	0.51349	0.0:0.9186:0.0:0.0814	.	1299	Q13224	NMDE2_HUMAN	H	1299	ENSP00000279593:R1299H	ENSP00000279593:R1299H	R	-	2	0	GRIN2B	13607543	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	5.580000	0.67464	2.579000	0.87056	0.563000	0.77884	CGC	GRIN2B	-	pfam_NMDAR2_C	ENSG00000150086		0.607	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	189	0.00	0	C			13716276	13716276	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	missense	137	41.10	97	SNP	1.000	T
GUCY2C	2984	genome.wustl.edu	37	12	14804406	14804406	+	Missense_Mutation	SNP	C	C	A	rs367698688	byFrequency	TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:14804406C>A	ENST00000261170.3	-	15	1781	c.1645G>T	c.(1645-1647)Ggc>Tgc	p.G549C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCACTGTGCCGTAGAACTTG	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	95.0	99.0					12																	14804406		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1645G>T	12.37:g.14804406C>A	ENSP00000261170:p.Gly549Cys		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.G549C	ENST00000261170.3	37	c.1645	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785644	0.70337	.	.	ENSG00000070019	ENST00000261170	D	0.89343	-2.5	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95561	0.8629	10	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	549	P25092	GUC2C_HUMAN	C	549	ENSP00000261170:G549C	ENSP00000261170:G549C	G	-	1	0	GUCY2C	14695673	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.420000	0.80191	2.603000	0.88011	0.655000	0.94253	GGC	GUCY2C	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070019		0.403	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	97	0.00	0	C			14804406	14804406	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	missense	149	18.13	33	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	70869618	70869618	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:70869618C>G	ENST00000393567.2	-	78	13512	c.13362G>C	c.(13360-13362)caG>caC	p.Q4454H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4454					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACAGAATGGACTGATTAAATG	0.517																																						dbGAP											0													2.0	2.0	2.0					16																	70869618		1327	2974	4301	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13362G>C	16.37:g.70869618C>G	ENSP00000377197:p.Gln4454His		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.Q4453H	ENST00000393567.2	37	c.13359	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	5.798	0.331555	0.10956	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00892	5.57	5.02	1.19	0.21007	.	1.230650	0.06548	N	0.744419	T	0.01061	0.0035	L	0.27053	0.805	0.09310	N	0.999999	B	0.22480	0.07	B	0.28305	0.088	T	0.49485	-0.8935	10	0.23891	T	0.37	.	8.0792	0.30735	0.0:0.3493:0.4997:0.151	.	4453	F8WD23	.	H	4454;4453	ENSP00000377197:Q4454H	ENSP00000313052:Q4453H	Q	-	3	2	HYDIN	69427119	0.215000	0.23574	0.150000	0.22450	0.244000	0.25665	-0.139000	0.10358	0.447000	0.26695	0.511000	0.50034	CAG	HYDIN	-	NULL	ENSG00000157423		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	50	0.00	0	C			70869618	70869618	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	0.079	G
INSR	3643	genome.wustl.edu	37	19	7267521	7267521	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:7267521T>C	ENST00000302850.5	-	2	629	c.487A>G	c.(487-489)Atc>Gtc	p.I163V	INSR_ENST00000341500.5_Missense_Mutation_p.I163V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	163	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAATCCAGGATACGGGACCAG	0.522																																						dbGAP											0													152.0	125.0	134.0					19																	7267521		2203	4300	6503	-	-	-	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.487A>G	19.37:g.7267521T>C	ENSP00000303830:p.Ile163Val		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.I163V	ENST00000302850.5	37	c.487	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012802	0.54468	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.84070	-1.8;-1.8	5.1	5.1	0.69264	EGF receptor, L domain (1);	0.000000	0.45361	U	0.000367	D	0.87002	0.6069	M	0.77406	2.37	0.80722	D	1	B;B;B	0.27932	0.106;0.194;0.012	B;B;B	0.42343	0.384;0.181;0.026	D	0.86835	0.2013	10	0.62326	D	0.03	.	12.854	0.57873	0.0:0.0:0.0:1.0	.	154;163;163	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	V	163	ENSP00000303830:I163V;ENSP00000342838:I163V	ENSP00000303830:I163V	I	-	1	0	INSR	7218521	1.000000	0.71417	0.893000	0.35052	0.830000	0.47004	3.835000	0.55805	1.916000	0.55485	0.460000	0.39030	ATC	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000171105		0.522	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	116	0.00	0	T			7267521	7267521	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	missense	109	10.66	13	SNP	0.997	C
KRTAP4-8	728224	genome.wustl.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						dbGAP											4	Substitution - Missense(4)	endometrium(3)|kidney(1)											7.0	11.0	10.0					17																	39254054		685	1582	2267	-	-	-	SO:0001583	missense	0			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser		A8MSH3	Missense_Mutation	SNP	pfam_Keratin-assoc	p.C95S	ENST00000333822.4	37	c.283	CCDS45674.1	17	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC	KRTAP4-8	-	NULL	ENSG00000204880		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	HGNC	protein_coding	OTTHUMT00000257684.1	21	0.00	0	A	NM_031960		39254054	39254054	-1	no_errors	ENST00000333822	ensembl	human	known	69_37n	missense	72	18.18	16	SNP	0.992	T
KRT17	3872	genome.wustl.edu	37	17	39780482	39780482	+	Missense_Mutation	SNP	G	G	A	rs58730926|rs267607414		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr17:39780482G>A	ENST00000311208.8	-	1	347	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	94	Coil 1A.|Rod.		Missing (in PC2).|R -> C (in PC2 and SM). {ECO:0000269|PubMed:9767294}.|R -> H (in SM). {ECO:0000269|PubMed:9008238}.|R -> P (in PC2). {ECO:0000269|PubMed:11348474}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GAGGCCAGGCGGTCATTGAGG	0.627																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0			GRCh37	CM983347	KRT17	M	rs58730926						87.0	92.0	90.0					17																	39780482		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.280C>T	17.37:g.39780482G>A	ENSP00000308452:p.Arg94Cys		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R94C	ENST00000311208.8	37	c.280	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588175	0.66105	.	.	ENSG00000128422	ENST00000311208	D	0.94138	-3.36	5.03	4.06	0.47325	Filament (1);	0.000000	0.47455	D	0.000238	D	0.94528	0.8238	M	0.88377	2.95	0.80722	A	1	B	0.31435	0.323	B	0.37198	0.243	D	0.96857	0.9629	9	0.87932	D	0	.	13.9787	0.64287	0.0731:0.0:0.9269:0.0	rs58730926	94	Q04695	K1C17_HUMAN	C	94	ENSP00000308452:R94C	ENSP00000308452:R94C	R	-	1	0	KRT17	37034008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.730000	0.62015	1.479000	0.48272	0.563000	0.77884	CGC	KRT17	-	pfam_F	ENSG00000128422		0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT17	HGNC	protein_coding	OTTHUMT00000257460.1	93	0.00	0	G	NM_000422		39780482	39780482	-1	no_errors	ENST00000311208	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	1.000	A
KIAA0195	9772	genome.wustl.edu	37	17	73486391	73486391	+	Missense_Mutation	SNP	G	G	T	rs148424621		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr17:73486391G>T	ENST00000314256.7	+	10	1425	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R354L|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	344						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGAGGCCCGTGTCCTGGCC	0.602																																						dbGAP											0													90.0	84.0	86.0					17																	73486391		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1031G>T	17.37:g.73486391G>T	ENSP00000313885:p.Arg344Leu		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.R344L	ENST00000314256.7	37	c.1031	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864904	0.91511	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.56275	0.48;0.47	5.51	5.51	0.81932	.	0.056399	0.64402	D	0.000001	T	0.63236	0.2494	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.61697	0.99;0.958	P;P	0.56343	0.796;0.451	T	0.58132	-0.7690	10	0.31617	T	0.26	-13.0086	19.4166	0.94703	0.0:0.0:1.0:0.0	.	354;344	C9JL75;Q12767	.;K0195_HUMAN	L	344;354	ENSP00000313885:R344L;ENSP00000364397:R354L	ENSP00000313885:R344L	R	+	2	0	KIAA0195	70997986	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	6.070000	0.71220	2.598000	0.87819	0.561000	0.74099	CGT	KIAA0195	-	NULL	ENSG00000177728		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	62	0.00	0	G	NM_014738		73486391	73486391	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	0.997	T
LAMA2	3908	genome.wustl.edu	37	6	129807718	129807718	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr6:129807718C>A	ENST00000421865.2	+	56	7898	c.7849C>A	c.(7849-7851)Ctg>Atg	p.L2617M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2617	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAGCCGAATCTGTTTCATGA	0.433																																						dbGAP											0													116.0	96.0	103.0					6																	129807718		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7849C>A	6.37:g.129807718C>A	ENSP00000400365:p.Leu2617Met		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2617M	ENST00000421865.2	37	c.7849	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919753	0.52653	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.80033	-1.33	5.6	2.79	0.32731	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.790973	0.12283	N	0.482688	T	0.56746	0.2006	N	0.14661	0.345	0.18873	N	0.999989	P;P	0.48764	0.915;0.915	P;P	0.51355	0.667;0.667	T	0.50906	-0.8772	9	.	.	.	.	7.733	0.28797	0.1098:0.3152:0.5048:0.0702	.	2618;2617	A6NF00;P24043	.;LAMA2_HUMAN	M	2617;2616;2617;635	ENSP00000400365:L2617M	.	L	+	1	2	LAMA2	129849411	0.101000	0.21875	0.761000	0.31378	0.965000	0.64279	0.485000	0.22324	0.371000	0.24564	0.591000	0.81541	CTG	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	65	0.00	0	C			129807718	129807718	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	123	10.87	15	SNP	0.348	A
LDLRAD3	143458	genome.wustl.edu	37	11	36119907	36119907	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:36119907G>A	ENST00000315571.5	+	4	371	c.350G>A	c.(349-351)cGc>cAc	p.R117H	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R68H|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R68H	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	117	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TCCACCGCCCGCTACCACTGC	0.517																																						dbGAP											0													86.0	71.0	76.0					11																	36119907		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.350G>A	11.37:g.36119907G>A	ENSP00000318607:p.Arg117His		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.R117H	ENST00000315571.5	37	c.350	CCDS31462.1	11	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982504	0.93044	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.95412	-3.7;-3.7;-3.7	4.97	4.97	0.65823	.	0.075723	0.51477	D	0.000084	D	0.95462	0.8526	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.96194	0.9140	10	0.54805	T	0.06	.	17.5734	0.87941	0.0:0.0:1.0:0.0	.	68;117	B7Z1U3;Q86YD5	.;LRAD3_HUMAN	H	68;68;117	ENSP00000433954:R68H;ENSP00000434313:R68H;ENSP00000318607:R117H	ENSP00000318607:R117H	R	+	2	0	LDLRAD3	36076483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.653000	0.91088	2.466000	0.83321	0.655000	0.94253	CGC	LDLRAD3	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000179241		0.517	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD3	HGNC	protein_coding	OTTHUMT00000389085.1	74	0.00	0	G	NM_174902		36119907	36119907	+1	no_errors	ENST00000315571	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	A
LRP1	4035	genome.wustl.edu	37	12	57587027	57587027	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:57587027C>G	ENST00000243077.3	+	46	8090	c.7624C>G	c.(7624-7626)Ctg>Gtg	p.L2542V	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2542	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTTCAGCCTGACCTGCGA	0.602																																						dbGAP											0													100.0	80.0	87.0					12																	57587027		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7624C>G	12.37:g.57587027C>G	ENSP00000243077:p.Leu2542Val		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L2542V	ENST00000243077.3	37	c.7624	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068867	0.55539	.	.	ENSG00000123384	ENST00000243077	D	0.95853	-3.83	4.57	4.57	0.56435	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000064	D	0.93913	0.8052	M	0.74467	2.265	0.80722	D	1	B	0.23650	0.089	B	0.25614	0.062	D	0.91246	0.5025	10	0.31617	T	0.26	.	11.5089	0.50483	0.1795:0.8204:0.0:0.0	.	2542	Q07954	LRP1_HUMAN	V	2542	ENSP00000243077:L2542V	ENSP00000243077:L2542V	L	+	1	2	LRP1	55873294	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.793000	0.55484	2.383000	0.81215	0.655000	0.94253	CTG	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	68	0.00	0	C	NM_002332		57587027	57587027	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	G
LUZP1	7798	genome.wustl.edu	37	1	23419915	23419915	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr1:23419915G>C	ENST00000302291.4	-	4	1641	c.840C>G	c.(838-840)aaC>aaG	p.N280K	LUZP1_ENST00000374623.3_Missense_Mutation_p.N280K|LUZP1_ENST00000418342.1_Missense_Mutation_p.N280K|LUZP1_ENST00000314174.5_Missense_Mutation_p.N280K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	280					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGATTGCGGTTCTTTTCAT	0.393																																						dbGAP											0													217.0	203.0	208.0					1																	23419915		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.840C>G	1.37:g.23419915G>C	ENSP00000303758:p.Asn280Lys		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.N280K	ENST00000302291.4	37	c.840	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947739	0.53186	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.14766	2.7;2.7;2.7;2.48	6.08	4.99	0.66335	.	0.000000	0.52532	D	0.000066	T	0.29850	0.0746	M	0.68952	2.095	0.33019	D	0.528554	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.22347	-1.0219	10	0.30854	T	0.27	.	7.826	0.29315	0.2001:0.0:0.7999:0.0	.	280;280	Q86V48-2;Q86V48	.;LUZP1_HUMAN	K	280	ENSP00000393460:N280K;ENSP00000363752:N280K;ENSP00000303758:N280K;ENSP00000313705:N280K	ENSP00000303758:N280K	N	-	3	2	LUZP1	23292502	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.862000	0.48388	2.894000	0.99253	0.655000	0.94253	AAC	LUZP1	-	NULL	ENSG00000169641		0.393	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	181	0.00	0	G	NM_033631		23419915	23419915	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	missense	388	13.00	58	SNP	1.000	C
MAP3K13	9175	genome.wustl.edu	37	3	185191457	185191457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr3:185191457G>T	ENST00000265026.3	+	11	2672	c.2338G>T	c.(2338-2340)Gaa>Taa	p.E780*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E636*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E636*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E573*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E780*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.E780K(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAGAAAATGAATTCAGCGG	0.537																																						dbGAP											2	Substitution - Missense(2)	skin(2)											104.0	112.0	109.0					3																	185191457		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2338G>T	3.37:g.185191457G>T	ENSP00000265026:p.Glu780*			Nonsense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E780*	ENST00000265026.3	37	c.2338	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698232	0.68386	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.68	3.85	0.44370	.	0.711616	0.13896	N	0.355259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	10.1737	0.42927	0.072:0.1358:0.7921:0.0	.	.	.	.	X	573;780;636;636;780	.	ENSP00000265026:E780X	E	+	1	0	MAP3K13	186674151	0.488000	0.25996	0.010000	0.14722	0.177000	0.22998	3.087000	0.50167	0.834000	0.34852	0.655000	0.94253	GAA	MAP3K13	-	pirsf_MAP3K12_MAP3K13	ENSG00000073803		0.537	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	15	0.00	0	G	NM_004721		185191457	185191457	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	nonsense	21	25.00	7	SNP	0.021	T
KMT2D	8085	genome.wustl.edu	37	12	49418417	49418417	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:49418417C>A	ENST00000301067.7	-	50	15995	c.15996G>T	c.(15994-15996)atG>atT	p.M5332I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5332					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGGTTGATCATGAGTGGCA	0.547																																						dbGAP											0													45.0	47.0	46.0					12																	49418417		1991	4159	6150	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15996G>T	12.37:g.49418417C>A	ENSP00000301067:p.Met5332Ile		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.M5332I	ENST00000301067.7	37	c.15996	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642996	0.47153	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.36	5.36	0.76844	.	0.170946	0.28327	N	0.015757	T	0.76335	0.3973	N	0.14661	0.345	0.51767	D	0.999931	D	0.63880	0.993	P	0.55923	0.787	T	0.80848	-0.1199	10	0.87932	D	0	.	18.2502	0.90000	0.0:1.0:0.0:0.0	.	5332	O14686	MLL2_HUMAN	I	5332	ENSP00000301067:M5332I	ENSP00000301067:M5332I	M	-	3	0	MLL2	47704684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	2.685000	0.91497	0.655000	0.94253	ATG	MLL2	-	NULL	ENSG00000167548		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	97	0.00	0	C			49418417	49418417	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	A
TRIM46	80128	genome.wustl.edu	37	1	155160204	155160204	+	IGR	SNP	C	C	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr1:155160204C>A	ENST00000334634.4	+	0	3061				MUC1_ENST00000368393.3_Missense_Mutation_p.V157F|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Missense_Mutation_p.V148F|MUC1_ENST00000338684.5_Missense_Mutation_p.V108F|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.V113F|MUC1_ENST00000337604.5_Missense_Mutation_p.V157F|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368395.1_Missense_Mutation_p.V359F|MUC1_ENST00000368398.3_Missense_Mutation_p.V114F|MUC1_ENST00000368390.3_Missense_Mutation_p.V139F|MUC1_ENST00000368392.3_Missense_Mutation_p.V148F	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577																																						dbGAP											0													48.0	45.0	46.0					1																	155160204		2199	4298	6497	-	-	-	SO:0001628	intergenic_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155160204C>A			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V445F	ENST00000334634.4	37	c.1333	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451433	0.43531	.	.	ENSG00000185499	ENST00000368395;ENST00000338684;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368398;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T;T;T	0.49432	1.34;1.34;1.34;1.34;1.34;0.78;1.34;1.34;1.34	3.82	-6.77	0.01727	.	1.649920	0.03959	N	0.289795	T	0.43634	0.1256	M	0.61703	1.905	0.09310	N	1	D;D;B;D;D;P;P;P;P;D;D;D;D;P;D;D;B;D;D;D;P;D;D;P	0.76494	0.999;0.998;0.439;0.958;0.998;0.932;0.878;0.903;0.805;0.983;0.987;0.961;0.968;0.932;0.968;0.968;0.314;0.995;0.959;0.966;0.494;0.959;0.968;0.911	D;D;B;P;D;P;B;P;P;P;D;P;P;P;P;P;B;D;P;P;B;P;P;P	0.74348	0.963;0.954;0.097;0.717;0.944;0.825;0.259;0.578;0.644;0.825;0.974;0.883;0.866;0.849;0.862;0.825;0.265;0.983;0.738;0.814;0.157;0.738;0.797;0.67	T	0.54984	-0.8211	10	0.87932	D	0	-6.4374	7.2493	0.26140	0.0:0.3121:0.1233:0.5645	.	1148;139;1136;157;1127;166;108;445;445;359;166;123;125;122;127;101;148;157;114;157;148;114;113;139	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;A5YRV1;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID7;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;P15941-6;B1AVR0;Q0VAP5;A6ZIE0;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	359;108;148;113;148;157;445;114;139;157	ENSP00000357380:V359F;ENSP00000343482:V108F;ENSP00000357377:V148F;ENSP00000389098:V113F;ENSP00000388172:V148F;ENSP00000357378:V157F;ENSP00000357383:V114F;ENSP00000357375:V139F;ENSP00000338983:V157F	ENSP00000338983:V157F	V	-	1	0	MUC1	153426828	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.384000	0.01063	-1.611000	0.01581	-1.332000	0.01269	GTC	MUC1	-	smart_SEA,pfscan_SEA	ENSG00000185499		0.577	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC1	HGNC	protein_coding	OTTHUMT00000086728.1	54	0.00	0	C	NM_025058		155160204	155160204	-1	no_errors	ENST00000425082	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	0.000	A
MYH11	4629	genome.wustl.edu	37	16	15931822	15931822	+	Silent	SNP	G	G	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:15931822G>T	ENST00000300036.5	-	2	397	c.288C>A	c.(286-288)ctC>ctA	p.L96L	MYH11_ENST00000576790.2_Silent_p.L96L|MYH11_ENST00000452625.2_Silent_p.L96L|MYH11_ENST00000396324.3_Silent_p.L96L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	96	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGGCTTCGTTGAGGCACGTCA	0.532			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													230.0	187.0	201.0					16																	15931822		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.288C>A	16.37:g.15931822G>T			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L96	ENST00000300036.5	37	c.288	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133392		0.532	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	239	0.00	0	G	NM_001040113		15931822	15931822	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	silent	220	30.19	96	SNP	1.000	T
NKAIN2	154215	genome.wustl.edu	37	6	124979382	124979382	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr6:124979382G>T	ENST00000368417.1	+	4	384	c.324G>T	c.(322-324)tgG>tgT	p.W108C	NKAIN2_ENST00000368416.1_Missense_Mutation_p.W108C|NKAIN2_ENST00000545433.1_Missense_Mutation_p.W93C|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GATCTTGGTGGATGGAGAATG	0.468																																						dbGAP											0													140.0	131.0	134.0					6																	124979382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.324G>T	6.37:g.124979382G>T	ENSP00000357402:p.Trp108Cys		Q8IYR4|Q8TF67	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.W108C	ENST00000368417.1	37	c.324	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755434	0.89843	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000539866;ENST00000545433	T;T;T	0.18810	2.19;2.19;2.19	5.71	5.71	0.89125	.	0.118478	0.64402	D	0.000008	T	0.48857	0.1523	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.996;1.0	P;D;P;D	0.80764	0.864;0.993;0.864;0.994	T	0.55970	-0.8056	10	0.87932	D	0	-1.5958	19.9132	0.97031	0.0:0.0:1.0:0.0	.	93;107;108;108	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	C	108;108;107;93	ENSP00000357401:W108C;ENSP00000357402:W108C;ENSP00000437798:W93C	ENSP00000357401:W108C	W	+	3	0	NKAIN2	125021081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.710000	0.92621	0.644000	0.83932	TGG	NKAIN2	-	pfam_Na/K-Atpase_Interacting	ENSG00000188580		0.468	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	89	0.00	0	G	NM_001040214		124979382	124979382	+1	no_errors	ENST00000368417	ensembl	human	known	69_37n	missense	143	17.82	31	SNP	1.000	T
NLRP7	199713	genome.wustl.edu	37	19	55447631	55447631	+	Silent	SNP	C	C	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:55447631C>G	ENST00000590030.1	-	5	2338	c.2298G>C	c.(2296-2298)ctG>ctC	p.L766L	NLRP7_ENST00000592784.1_Silent_p.L766L|NLRP7_ENST00000328092.5_Silent_p.L738L|NLRP7_ENST00000588756.1_Silent_p.L766L|NLRP7_ENST00000448121.2_Silent_p.L738L|NLRP7_ENST00000340844.2_Silent_p.L766L|NLRP7_ENST00000446217.1_Silent_p.L794L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	766							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGACCCACCTCAGGTACTGCA	0.577																																						dbGAP											0													102.0	80.0	88.0					19																	55447631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2298G>C	19.37:g.55447631C>G			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L794	ENST00000590030.1	37	c.2382	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.577	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	142	0.00	0	C	NM_139176		55447631	55447631	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	silent	50	15.25	9	SNP	0.072	G
TENM2	57451	genome.wustl.edu	37	5	167674943	167674943	+	Silent	SNP	C	C	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr5:167674943C>A	ENST00000518659.1	+	27	7038	c.6999C>A	c.(6997-6999)acC>acA	p.T2333T	TENM2_ENST00000520394.1_Silent_p.T2094T|TENM2_ENST00000545108.1_Silent_p.T2332T|TENM2_ENST00000519204.1_Silent_p.T2212T|TENM2_ENST00000403607.2_Silent_p.T2157T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2333					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGCGCATCACCCATGTCTACA	0.567																																						dbGAP											0													121.0	125.0	124.0					5																	167674943		2089	4223	6312	-	-	-	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6999C>A	5.37:g.167674943C>A			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T2333	ENST00000518659.1	37	c.6999		5																																																																																			ODZ2	-	NULL	ENSG00000145934		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	148	0.00	0	C	NM_001122679		167674943	167674943	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	silent	111	29.75	47	SNP	0.953	A
OR51A7	119687	genome.wustl.edu	37	11	4928748	4928748	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:4928748A>T	ENST00000359350.4	+	1	149	c.149A>T	c.(148-150)aAg>aTg	p.K50M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTATTATAAAGACAGAGCCC	0.502																																						dbGAP											0													162.0	144.0	150.0					11																	4928748		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.149A>T	11.37:g.4928748A>T	ENSP00000352305:p.Lys50Met		Q6IFH8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K50M	ENST00000359350.4	37	c.149	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	A	8.957	0.969533	0.18659	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.02974	4.09	5.02	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000132	T	0.08891	0.0220	M	0.74546	2.27	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.25047	-1.0143	10	0.45353	T	0.12	.	0.8554	0.01181	0.4346:0.1594:0.2527:0.1533	.	50	Q8NH64	O51A7_HUMAN	M	50;50;39	ENSP00000352305:K50M	ENSP00000352305:K50M	K	+	2	0	OR51A7	4885324	0.000000	0.05858	0.819000	0.32651	0.016000	0.09150	-1.089000	0.03376	0.077000	0.16863	-0.313000	0.08912	AAG	OR51A7	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176895		0.502	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	85	0.00	0	A	NM_001004749		4928748	4928748	+1	no_errors	ENST00000359350	ensembl	human	known	69_37n	missense	105	29.53	44	SNP	0.005	T
OSMR	9180	genome.wustl.edu	37	5	38918971	38918971	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr5:38918971G>C	ENST00000274276.3	+	11	1794	c.1392G>C	c.(1390-1392)aaG>aaC	p.K464N		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	464	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCAATGGAAAGATCCTGTTCT	0.348																																						dbGAP											0													84.0	83.0	84.0					5																	38918971		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1392G>C	5.37:g.38918971G>C	ENSP00000274276:p.Lys464Asn		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K464N	ENST00000274276.3	37	c.1392	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769053	0.49680	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.53423	0.62;0.62	4.87	1.85	0.25348	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.741475	0.13555	N	0.379162	T	0.53658	0.1810	M	0.79805	2.47	0.32063	N	0.595392	D	0.53619	0.961	P	0.49637	0.617	T	0.61633	-0.7023	10	0.59425	D	0.04	.	5.3423	0.15990	0.3778:0.0:0.6222:0.0	.	464	Q99650	OSMR_HUMAN	N	464;71	ENSP00000274276:K464N;ENSP00000423913:K71N	ENSP00000274276:K464N	K	+	3	2	OSMR	38954728	0.017000	0.18338	0.750000	0.31169	0.708000	0.40852	0.427000	0.21379	0.632000	0.30432	0.655000	0.94253	AAG	OSMR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000145623		0.348	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	133	0.00	0	G	NM_003999		38918971	38918971	+1	no_errors	ENST00000274276	ensembl	human	known	69_37n	missense	228	15.87	43	SNP	0.913	C
PHF20L1	51105	genome.wustl.edu	37	8	133849997	133849997	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr8:133849997G>A	ENST00000395386.2	+	17	2431	c.2132G>A	c.(2131-2133)gGg>gAg	p.G711E	PHF20L1_ENST00000395390.2_Missense_Mutation_p.G686E|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.G98E|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	711							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTGTGCATGGGGCTGCTGGAG	0.517																																						dbGAP											0													124.0	125.0	125.0					8																	133849997		2124	4244	6368	-	-	-	SO:0001583	missense	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2132G>A	8.37:g.133849997G>A	ENSP00000378784:p.Gly711Glu		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.G98E	ENST00000395386.2	37	c.293	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	35	5.454390	0.96223	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T;T	0.69040	-0.37;-0.37;-0.37	5.64	5.64	0.86602	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.093013	0.40728	U	0.001034	D	0.84397	0.5463	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86389	0.1734	10	0.87932	D	0	-9.2124	18.6983	0.91611	0.0:0.0:1.0:0.0	.	686;711	F8W9L8;A8MW92	.;P20L1_HUMAN	E	711;98;686	ENSP00000378784:G711E;ENSP00000220847:G98E;ENSP00000378788:G686E	ENSP00000220847:G98E	G	+	2	0	PHF20L1	133919179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.655000	0.90218	0.637000	0.83480	GGG	PHF20L1	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	ENSG00000129292		0.517	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	257	0.00	0	G	NM_016018		133849997	133849997	+1	no_errors	ENST00000220847	ensembl	human	known	69_37n	missense	116	24.18	37	SNP	1.000	A
PHLPP2	23035	genome.wustl.edu	37	16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr16:71683709C>T	ENST00000568954.1	-	19	3434	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S952N|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1019	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493																																						dbGAP											0													226.0	209.0	215.0					16																	71683709		2198	4300	6498	-	-	-	SO:0001583	missense	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3056G>A	16.37:g.71683709C>T	ENSP00000457991:p.Ser1019Asn		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.S1019N	ENST00000568954.1	37	c.3056	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511836	0.85389	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.17528	2.27;2.27	5.9	5.9	0.94986	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.07673	-1.0760	10	0.59425	D	0.04	-19.9405	19.2671	0.93993	0.0:1.0:0.0:0.0	.	952;1019	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	1019;952	ENSP00000348611:S1019N;ENSP00000377159:S952N	ENSP00000348611:S1019N	S	-	2	0	PHLPP2	70241210	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC	PHLPP2	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000040199		0.493	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	243	0.00	0	C	NM_015020		71683709	71683709	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	missense	116	13.43	18	SNP	1.000	T
PLIN4	729359	genome.wustl.edu	37	19	4508835	4508835	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:4508835T>A	ENST00000301286.3	-	4	3604	c.3605A>T	c.(3604-3606)cAc>cTc	p.H1202L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1202						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GAACTGGCCGTGCTGCAGGTG	0.637																																						dbGAP											0													29.0	37.0	35.0					19																	4508835		2073	4203	6276	-	-	-	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3605A>T	19.37:g.4508835T>A	ENSP00000301286:p.His1202Leu		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.H1202L	ENST00000301286.3	37	c.3605	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702366	0.68501	.	.	ENSG00000167676	ENST00000301286	T	0.05513	3.43	5.11	5.11	0.69529	.	0.329039	0.21402	N	0.075138	T	0.08447	0.0210	L	0.41710	1.295	0.25700	N	0.985595	P	0.48911	0.917	P	0.44811	0.461	T	0.14392	-1.0474	10	0.72032	D	0.01	-11.9124	11.2894	0.49241	0.0:0.0:0.0:1.0	.	1202	Q96Q06	PLIN4_HUMAN	L	1202	ENSP00000301286:H1202L	ENSP00000301286:H1202L	H	-	2	0	PLIN4	4459835	0.006000	0.16342	0.827000	0.32855	0.769000	0.43574	1.117000	0.31234	1.917000	0.55516	0.454000	0.30748	CAC	PLIN4	-	pfam_Perilipin	ENSG00000167676		0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	61	0.00	0	T	XM_170901		4508835	4508835	-1	no_errors	ENST00000301286	ensembl	human	novel	69_37n	missense	15	60.53	23	SNP	0.761	A
PRDM10	56980	genome.wustl.edu	37	11	129827748	129827748	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:129827748C>A	ENST00000360871.3	-	3	358	c.127G>T	c.(127-129)Gtt>Ttt	p.V43F	PRDM10_ENST00000528746.1_Missense_Mutation_p.V43F|PRDM10_ENST00000358825.5_Missense_Mutation_p.V43F	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGGGGCGAACCTGGTCATCG	0.537																																						dbGAP											0													264.0	232.0	243.0					11																	129827748		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.127G>T	11.37:g.129827748C>A	ENSP00000354118:p.Val43Phe		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V43F	ENST00000360871.3	37	c.127	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106774	0.77096	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.44881	2.95;2.95;2.98;0.92;0.91	5.76	5.76	0.90799	.	0.508743	0.21094	N	0.080266	T	0.29850	0.0746	N	0.08118	0	0.80722	D	1	P;P;P	0.48016	0.904;0.786;0.681	B;B;B	0.40864	0.342;0.237;0.119	T	0.31861	-0.9928	10	0.66056	D	0.02	-9.3347	19.9705	0.97284	0.0:1.0:0.0:0.0	.	43;43;43	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	F	43	ENSP00000351686:V43F;ENSP00000354118:V43F;ENSP00000431262:V43F;ENSP00000432093:V43F;ENSP00000436681:V43F	ENSP00000351686:V43F	V	-	1	0	PRDM10	129332958	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.487000	0.81328	2.728000	0.93425	0.655000	0.94253	GTT	PRDM10	-	NULL	ENSG00000170325		0.537	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	85	0.00	0	C	NM_199437		129827748	129827748	-1	no_errors	ENST00000358825	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	1.000	A
PSMD9	5715	genome.wustl.edu	37	12	122326782	122326782	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:122326782G>A	ENST00000541212.1	+	1	146	c.20G>A	c.(19-21)aGg>aAg	p.R7K	PSMD9_ENST00000542602.1_Missense_Mutation_p.R7K|RP11-87C12.2_ENST00000546333.1_Missense_Mutation_p.R7K|PSMD9_ENST00000340175.5_Missense_Mutation_p.R7K|PSMD9_ENST00000261817.2_Missense_Mutation_p.R7K			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	7					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGGAAGCGAGGCAGAGCGGA	0.677											OREG0022209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													23.0	18.0	20.0					12																	122326782		2197	4295	6492	-	-	-	SO:0001583	missense	0			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.20G>A	12.37:g.122326782G>A	ENSP00000440485:p.Arg7Lys	1518	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.R7K	ENST00000541212.1	37	c.20	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360881	0.24684	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000542602	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	4.72	-0.433	0.12287	.	1.081660	0.06982	N	0.820015	T	0.09642	0.0237	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.32295	-0.9912	10	0.02654	T	1	0.0085	1.822	0.03112	0.1768:0.2951:0.3766:0.1515	.	7;7	F8W7V8;O00233	.;PSMD9_HUMAN	K	7	ENSP00000440485:R7K;ENSP00000340847:R7K;ENSP00000261817:R7K;ENSP00000443081:R7K;ENSP00000443772:R7K	ENSP00000261817:R7K	R	+	2	0	RP11-87C12.2;PSMD9	120811165	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.347000	0.07750	-0.178000	0.10672	0.561000	0.74099	AGG	PSMD9	-	NULL	ENSG00000110801		0.677	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	21	0.00	0	G	NM_002813		122326782	122326782	+1	no_errors	ENST00000541212	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.000	A
PTEN	5728	genome.wustl.edu	37	10	89717742	89717743	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr10:89717742_89717743insG	ENST00000371953.3	+	7	2124_2125	c.767_768insG	c.(766-771)gagttcfs	p.F257fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	257	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCAAAGTAGAGTTCTTCCACA	0.366		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	50	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.768dupG	10.37:g.89717743_89717743dupG	ENSP00000361021:p.Phe257fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F257fs	ENST00000371953.3	37	c.767_768	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.366	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	85	0.00	0	-	NM_000314		89717742	89717743	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_ins	64	44.35	51	INS	1.000:0.979	G
RAB17	64284	genome.wustl.edu	37	2	238484088	238484088	+	Silent	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr2:238484088C>T	ENST00000264601.3	-	5	1100	c.471G>A	c.(469-471)ctG>ctA	p.L157L	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Silent_p.L30L|RAB17_ENST00000409822.1_Silent_p.L30L	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	157				L -> P (in Ref. 1; CAB66580). {ECO:0000305}.	cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TTTCCATGAACAGCAACTTCT	0.527																																					Colon(56;987 1029 6466 13943 27336)	dbGAP											0													79.0	65.0	70.0					2																	238484088		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.471G>A	2.37:g.238484088C>T			Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L157	ENST00000264601.3	37	c.471	CCDS2520.1	2																																																																																			RAB17	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000124839		0.527	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB17	HGNC	protein_coding	OTTHUMT00000257084.2	77	0.00	0	C			238484088	238484088	-1	no_errors	ENST00000264601	ensembl	human	known	69_37n	silent	45	11.76	6	SNP	1.000	T
RICTOR	253260	genome.wustl.edu	37	5	39021230	39021230	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr5:39021230C>T	ENST00000357387.3	-	3	136	c.106G>A	c.(106-108)Gat>Aat	p.D36N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D36N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTAAGTTATCAGAAGGTTCT	0.328																																						dbGAP											0													116.0	121.0	119.0					5																	39021230		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.106G>A	5.37:g.39021230C>T	ENSP00000349959:p.Asp36Asn			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D36N	ENST00000357387.3	37	c.106	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.165389	0.94768	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T	0.44482	0.92;0.92	5.54	5.54	0.83059	.	0.046333	0.85682	D	0.000000	T	0.47911	0.1471	L	0.48642	1.525	0.58432	D	0.999997	P;P;P;P	0.44139	0.72;0.728;0.804;0.827	B;B;P;P	0.46543	0.35;0.366;0.485;0.52	T	0.48559	-0.9025	10	0.87932	D	0	-14.9745	18.6203	0.91318	0.0:1.0:0.0:0.0	.	36;36;36;36	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	N	36;36;20	ENSP00000349959:D36N;ENSP00000296782:D36N	ENSP00000296782:D36N	D	-	1	0	RICTOR	39056987	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.607000	0.74163	2.779000	0.95612	0.591000	0.81541	GAT	RICTOR	-	NULL	ENSG00000164327		0.328	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	75	0.00	0	C	NM_152756		39021230	39021230	-1	no_errors	ENST00000296782	ensembl	human	known	69_37n	missense	256	13.51	40	SNP	1.000	T
SENP6	26054	genome.wustl.edu	37	6	76380373	76380373	+	Silent	SNP	C	C	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr6:76380373C>A	ENST00000447266.2	+	11	1807	c.1329C>A	c.(1327-1329)gtC>gtA	p.V443V	SENP6_ENST00000370010.2_Silent_p.V436V|SENP6_ENST00000370014.3_Silent_p.V443V|SENP6_ENST00000541192.1_Silent_p.V39V|SENP6_ENST00000327284.8_Silent_p.V436V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	443					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTGACAGTGTCATTTTAAACT	0.373																																						dbGAP											0													98.0	86.0	90.0					6																	76380373		1823	4083	5906	-	-	-	SO:0001819	synonymous_variant	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1329C>A	6.37:g.76380373C>A			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Nonsense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.S59*	ENST00000447266.2	37	c.176	CCDS47454.1	6																																																																																			SENP6	-	NULL	ENSG00000112701		0.373	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	90	0.00	0	C	NM_015571		76380373	76380373	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000503501	ensembl	human	known	69_37n	nonsense	156	12.36	22	SNP	1.000	A
SLC22A11	55867	genome.wustl.edu	37	11	64329577	64329577	+	Missense_Mutation	SNP	G	G	A	rs568314450	byFrequency	TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:64329577G>A	ENST00000301891.4	+	3	973	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	SLC22A11_ENST00000377581.3_Missense_Mutation_p.R200Q|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R200Q|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	200					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TGCGGCCTGCGGTTCGTGGCC	0.642											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	2	0.000399361	0.0	0.0	5008	,	,		18067	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													57.0	53.0	54.0					11																	64329577		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.599G>A	11.37:g.64329577G>A	ENSP00000301891:p.Arg200Gln	1075	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R200Q	ENST00000301891.4	37	c.599	CCDS8074.1	11	.	.	.	.	.	.	.	.	.	.	.	22.7	4.329120	0.81690	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	D;D;D	0.89810	-2.57;-2.57;-2.57	3.38	2.44	0.29823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.93194	0.7832	M	0.83118	2.625	0.35474	D	0.797555	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93620	0.6947	10	0.66056	D	0.02	.	7.8104	0.29228	0.1322:0.0:0.8678:0.0	.	200;200;200	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	Q	200	ENSP00000301891:R200Q;ENSP00000366809:R200Q;ENSP00000366804:R200Q	ENSP00000301891:R200Q	R	+	2	0	SLC22A11	64086153	1.000000	0.71417	0.902000	0.35471	0.088000	0.18126	6.396000	0.73234	0.740000	0.32651	0.555000	0.69702	CGG	SLC22A11	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168065		0.642	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4	82	0.00	0	G	NM_018484		64329577	64329577	+1	no_errors	ENST00000301891	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	0.996	A
SLC35A1	10559	genome.wustl.edu	37	6	88218170	88218170	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr6:88218170G>C	ENST00000369552.4	+	6	634	c.607G>C	c.(607-609)Gat>Cat	p.D203H	SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000544441.1_Missense_Mutation_p.D69H|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000369556.3_Intron	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	203					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAGAGTTCAGATACTTCTCT	0.289																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)	dbGAP											0													61.0	64.0	63.0					6																	88218170		2203	4299	6502	-	-	-	SO:0001583	missense	0			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.607G>C	6.37:g.88218170G>C	ENSP00000358565:p.Asp203His		Q5W1L8	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.D203H	ENST00000369552.4	37	c.607	CCDS5010.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.420008|3.420008	0.62622|0.62622	.|.	.|.	ENSG00000164414|ENSG00000164414	ENST00000544441;ENST00000369552|ENST00000369544	T;T|.	0.45668|.	0.89;0.89|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.60470|0.60470	0.2271|0.2271	L|L	0.50993|0.50993	1.605|1.605	0.80722|0.80722	D|D	1|1	D;B|.	0.55800|.	0.973;0.245|.	P;B|.	0.60345|.	0.873;0.14|.	T|T	0.52675|0.52675	-0.8544|-0.8544	10|6	0.54805|0.18276	T|T	0.06|0.48	-28.3621|-28.3621	20.2405|20.2405	0.98372|0.98372	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	203;69|.	P78382;B4DEM1|.	S35A1_HUMAN;.|.	H|T	69;203|161	ENSP00000438603:D69H;ENSP00000358565:D203H|.	ENSP00000358565:D203H|ENSP00000358557:R161T	D|R	+|+	1|2	0|0	SLC35A1|SLC35A1	88274889|88274889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.378000|9.378000	0.97191|0.97191	2.797000|2.797000	0.96272|0.96272	0.561000|0.561000	0.74099|0.74099	GAT|AGA	SLC35A1	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	ENSG00000164414		0.289	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A1	HGNC	protein_coding	OTTHUMT00000041446.1	65	0.00	0	G			88218170	88218170	+1	no_errors	ENST00000369552	ensembl	human	known	69_37n	missense	140	20.34	36	SNP	1.000	C
SLC6A18	348932	genome.wustl.edu	37	5	1239601	1239601	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr5:1239601G>A	ENST00000324642.3	+	6	892	c.769G>A	c.(769-771)Gca>Aca	p.A257T	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A252T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	257					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGGCTGGACGCAGCCACCCA	0.582																																						dbGAP											0													107.0	108.0	108.0					5																	1239601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.769G>A	5.37:g.1239601G>A	ENSP00000323549:p.Ala257Thr			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.A257T	ENST00000324642.3	37	c.769	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.094200	0.94149	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.91124	-2.79;-2.79	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000001	D	0.96602	0.8891	H	0.94582	3.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98045	1.0384	10	0.87932	D	0	.	16.3792	0.83439	0.0:0.0:1.0:0.0	.	257	Q96N87	S6A18_HUMAN	T	257;252	ENSP00000323549:A257T;ENSP00000296821:A252T	ENSP00000296821:A252T	A	+	1	0	SLC6A18	1292601	1.000000	0.71417	0.792000	0.32020	0.910000	0.53928	9.117000	0.94347	1.951000	0.56629	0.555000	0.69702	GCA	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000164363		0.582	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	107	0.00	0	G	NM_182632		1239601	1239601	+1	no_errors	ENST00000324642	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	1.000	A
ST3GAL4	6484	genome.wustl.edu	37	11	126283912	126283912	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr11:126283912G>A	ENST00000526727.1	+	10	1346	c.972G>A	c.(970-972)atG>atA	p.M324I	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.M324I|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.M324I|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.M324I|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.M330I|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.M323I|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.M320I|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.M319I|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.M320I|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.M313I			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	324					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGCTGGAGATGGGAGCTATCA	0.582																																						dbGAP											0													128.0	116.0	120.0					11																	126283912		2201	4297	6498	-	-	-	SO:0001583	missense	0			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.972G>A	11.37:g.126283912G>A	ENSP00000436047:p.Met324Ile		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.M330I	ENST00000526727.1	37	c.990	CCDS58193.1	11	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618385	0.14129	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.63	-11.3	0.00108	.	.	.	.	.	T	0.08758	0.0217	N	0.01809	-0.71	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42849	-0.9427	9	0.34782	T	0.22	.	7.5145	0.27593	0.0541:0.1475:0.3692:0.4292	.	320;324	Q6IBE6;Q11206	.;SIA4C_HUMAN	I	320;324;330;320;324;324;324;313;323;319	ENSP00000227495:M320I;ENSP00000394354:M324I;ENSP00000348451:M330I;ENSP00000433989:M320I;ENSP00000433318:M324I;ENSP00000376437:M324I;ENSP00000436047:M324I;ENSP00000399444:M313I;ENSP00000434349:M323I;ENSP00000434668:M319I	ENSP00000227495:M320I	M	+	3	0	ST3GAL4	125789122	0.001000	0.12720	0.000000	0.03702	0.978000	0.69477	-2.338000	0.01103	-4.523000	0.00044	-0.304000	0.09214	ATG	ST3GAL4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000110080		0.582	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ST3GAL4	HGNC	protein_coding	OTTHUMT00000386470.1	108	0.00	0	G	NM_006278		126283912	126283912	+1	no_errors	ENST00000356132	ensembl	human	known	69_37n	missense	76	16.48	15	SNP	0.000	A
SVIL	6840	genome.wustl.edu	37	10	29775379	29775379	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr10:29775379T>G	ENST00000355867.4	-	25	5345	c.4593A>C	c.(4591-4593)aaA>aaC	p.K1531N	SVIL_ENST00000375400.3_Missense_Mutation_p.K1105N|SVIL_ENST00000375398.2_Missense_Mutation_p.K1531N|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.K445N|SVIL_ENST00000538146.1_Missense_Mutation_p.K323N	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1531	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCAGAAGTCTTTGGCTGCAT	0.403																																						dbGAP											0													166.0	163.0	164.0					10																	29775379		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4593A>C	10.37:g.29775379T>G	ENSP00000348128:p.Lys1531Asn		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.K1531N	ENST00000355867.4	37	c.4593	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536640	0.45176	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86627	2.63;2.67;2.67;2.52;-2.15	4.66	3.53	0.40419	.	0.084651	0.85682	D	0.000000	D	0.82751	0.5105	L	0.49455	1.56	0.52501	D	0.999956	B;B;B;B	0.33345	0.016;0.016;0.311;0.409	B;B;B;B	0.36845	0.042;0.042;0.234;0.118	T	0.79914	-0.1602	10	0.54805	T	0.06	-30.4618	7.801	0.29174	0.0:0.1617:0.0:0.8383	.	445;323;1105;1531	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	N	1105;1531;1531;445;485;323	ENSP00000364549:K1105N;ENSP00000364547:K1531N;ENSP00000348128:K1531N;ENSP00000445472:K445N;ENSP00000440343:K323N	ENSP00000348128:K1531N	K	-	3	2	SVIL	29815385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.783000	0.38664	0.934000	0.37316	0.454000	0.30748	AAA	SVIL	-	smart_Gelsolin	ENSG00000197321		0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	154	0.65	1	T			29775379	29775379	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	235	23.45	72	SNP	1.000	G
SZT2	23334	genome.wustl.edu	37	1	43892390	43892390	+	Silent	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr1:43892390C>T	ENST00000562955.1	+	22	3048	c.3048C>T	c.(3046-3048)gcC>gcT	p.A1016A	SZT2_ENST00000372442.1_Silent_p.A174A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1073					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGTAGGTGCCGAGGGGCCAC	0.612																																						dbGAP											0													27.0	28.0	27.0					1																	43892390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3048C>T	1.37:g.43892390C>T			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NULL	p.A1016	ENST00000562955.1	37	c.3048	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	71	0.00	0	C	NM_015284		43892390	43892390	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	silent	58	13.43	9	SNP	0.991	T
MAP3K12	7786	genome.wustl.edu	37	12	53895208	53895208	+	5'Flank	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:53895208C>T	ENST00000267079.2	-	0	0				MAP3K12_ENST00000547151.1_5'Flank|TARBP2_ENST00000394357.2_5'Flank|TARBP2_ENST00000266987.2_Nonsense_Mutation_p.Q6*|TARBP2_ENST00000456234.2_Intron|MAP3K12_ENST00000547488.1_5'Flank|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Nonsense_Mutation_p.Q6*	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGAAGAGGAGCAAGGCTCCGG	0.682																																						dbGAP											0													32.0	27.0	29.0					12																	53895208		2169	4268	6437	-	-	-	SO:0001631	upstream_gene_variant	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895208C>T	Exception_encountered		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Nonsense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.Q6*	ENST00000267079.2	37	c.16	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	c	39	7.787851	0.98489	.	.	ENSG00000139546	ENST00000266987;ENST00000552857;ENST00000549610	.	.	.	4.39	4.39	0.52855	.	0.355321	0.27447	N	0.019321	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	1.786	10.6603	0.45698	0.0:0.8053:0.1947:0.0	.	.	.	.	X	6	.	ENSP00000266987:Q6X	Q	+	1	0	TARBP2	52181475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.588000	0.36633	2.454000	0.82982	0.486000	0.48141	CAA	TARBP2	-	NULL	ENSG00000139546		0.682	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TARBP2	HGNC	protein_coding	OTTHUMT00000406267.1	19	0.00	0	C	NM_006301		53895208	53895208	+1	no_errors	ENST00000266987	ensembl	human	known	69_37n	nonsense	19	20.83	5	SNP	1.000	T
TMBIM4	51643	genome.wustl.edu	37	12	66531907	66531907	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:66531907C>T	ENST00000358230.3	-	7	670	c.550G>A	c.(550-552)Gct>Act	p.A184T	TMBIM4_ENST00000556010.1_Missense_Mutation_p.R156H|TMBIM4_ENST00000542724.1_Missense_Mutation_p.A153T|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.A231T|TMBIM4_ENST00000539652.1_Missense_Mutation_p.R156H|TMBIM4_ENST00000544599.1_Missense_Mutation_p.A7T	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	184					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GCTCCTGCAGCGGCTAAGACC	0.378																																						dbGAP											0													80.0	76.0	77.0					12																	66531907		1865	4106	5971	-	-	-	SO:0001583	missense	0			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.550G>A	12.37:g.66531907C>T	ENSP00000350965:p.Ala184Thr		Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.A184T	ENST00000358230.3	37	c.550	CCDS41805.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.787645|2.787645	0.49997|0.49997	.|.	.|.	ENSG00000155957|ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539043;ENST00000539427;ENST00000542724|ENST00000556010	T;T;T;T|T	0.47528|0.30714	0.84;0.84;0.84;0.84|1.52	6.17|6.17	5.26|5.26	0.73747|0.73747	.|.	0.109285|.	0.64402|.	D|.	0.000011|.	T|T	0.45196|0.45196	0.1330|0.1330	M|M	0.63428|0.63428	1.95|1.95	0.23953|0.23953	N|N	0.996369|0.996369	B;B;B|.	0.32160|.	0.358;0.212;0.038|.	B;B;B|.	0.28638|.	0.065;0.092;0.041|.	T|T	0.34576|0.34576	-0.9823|-0.9823	9|6	.|.	.|.	.|.	-7.8571|-7.8571	16.5537|16.5537	0.84479|0.84479	0.1352:0.8648:0.0:0.0|0.1352:0.8648:0.0:0.0	.|.	231;153;184|.	G3XAA5;G3V1M2;Q9HC24|.	.;.;TMBI4_HUMAN|.	T|H	184;7;231;184;229;153|156	ENSP00000350965:A184T;ENSP00000444639:A7T;ENSP00000286424:A231T;ENSP00000441291:A153T|ENSP00000451688:R156H	.|.	A|R	-|-	1|2	0|0	TMBIM4|TMBIM4	64818174|64818174	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.305000|0.305000	0.27757|0.27757	3.142000|3.142000	0.50601|0.50601	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	GCT|CGC	TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.378	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	120	0.00	0	C	NM_016056		66531907	66531907	-1	no_errors	ENST00000358230	ensembl	human	known	69_37n	missense	70	11.25	9	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	rs587781288		TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr17:7578508C>T	ENST00000269305.4	-	5	611	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000420246.2_Missense_Mutation_p.C141Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCACAGGGCAGGTCTTGGC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(1)	GRCh37	CM993216	TP53	M							56.0	55.0	55.0					17																	7578508		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.422G>A	17.37:g.7578508C>T	ENSP00000269305:p.Cys141Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C141Y	ENST00000269305.4	37	c.422	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720132	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99832	0.9924	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.987;1.0;0.999;1.0;1.0	D	0.96735	0.9542	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141Y;ENSP00000352610:C141Y;ENSP00000269305:C141Y;ENSP00000398846:C141Y;ENSP00000391127:C141Y;ENSP00000391478:C141Y;ENSP00000425104:C9Y;ENSP00000423862:C48Y;ENSP00000424104:C141Y	ENSP00000269305:C141Y	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	53	0.00	0	C	NM_000546		7578508	7578508	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	49	36.71	29	SNP	1.000	T
TPH2	121278	genome.wustl.edu	37	12	72338118	72338118	+	Silent	SNP	G	G	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr12:72338118G>C	ENST00000333850.3	+	3	441	c.300G>C	c.(298-300)cgG>cgC	p.R100R	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	100	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.R100R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GGAAATCTCGGCGAAGAAGTT	0.403																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											140.0	131.0	134.0					12																	72338118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.300G>C	12.37:g.72338118G>C			A6NGA4|Q14CB0	Silent	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.R100	ENST00000333850.3	37	c.300	CCDS31859.1	12																																																																																			TPH2	-	pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.403	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	178	0.00	0	G	NM_173353		72338118	72338118	+1	no_errors	ENST00000333850	ensembl	human	known	69_37n	silent	212	11.67	28	SNP	1.000	C
TSKS	60385	genome.wustl.edu	37	19	50245191	50245191	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:50245191C>T	ENST00000246801.3	-	9	1530	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	TSKS_ENST00000358830.3_Missense_Mutation_p.G283D	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	483					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGAGTCAGGCCCCTCTGCTT	0.597																																						dbGAP											0													132.0	116.0	121.0					19																	50245191		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1448G>A	19.37:g.50245191C>T	ENSP00000246801:p.Gly483Asp		Q8WXJ0	Missense_Mutation	SNP	NULL	p.G483D	ENST00000246801.3	37	c.1448	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602999	0.46423	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.35605	1.3;1.3	4.72	4.72	0.59763	.	0.218384	0.32785	N	0.005657	T	0.26991	0.0661	L	0.29908	0.895	0.34546	D	0.710784	P	0.36909	0.573	B	0.38378	0.272	T	0.28964	-1.0027	10	0.16420	T	0.52	-12.8879	13.1114	0.59275	0.0:1.0:0.0:0.0	.	483	Q9UJT2	TSKS_HUMAN	D	483;283	ENSP00000246801:G483D;ENSP00000351691:G283D	ENSP00000246801:G483D	G	-	2	0	TSKS	54937003	0.999000	0.42202	0.999000	0.59377	0.657000	0.38888	1.329000	0.33770	2.464000	0.83262	0.556000	0.70494	GGC	TSKS	-	NULL	ENSG00000126467		0.597	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	207	0.00	0	C	NM_021733		50245191	50245191	-1	no_errors	ENST00000246801	ensembl	human	known	69_37n	missense	51	61.65	82	SNP	0.998	T
ZCCHC11	23318	genome.wustl.edu	37	1	52991318	52991318	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr1:52991318G>A	ENST00000371544.3	-	2	897	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S212F|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S212F|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	212					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCTTCTGAGATCGTGGTGA	0.388																																						dbGAP											0													167.0	167.0	167.0					1																	52991318		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.635C>T	1.37:g.52991318G>A	ENSP00000360599:p.Ser212Phe		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S212F	ENST00000371544.3	37	c.635	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276304	0.40294	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.31	5.31	0.75309	.	0.378765	0.23032	N	0.052736	D	0.83492	0.5266	L	0.36672	1.1	0.34692	D	0.725884	P;D;P;P	0.56035	0.61;0.974;0.928;0.93	B;P;P;B	0.51615	0.372;0.675;0.566;0.38	D	0.87812	0.2632	10	0.66056	D	0.02	.	10.4443	0.44483	0.0898:0.0:0.9102:0.0	.	212;212;212;212	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	F	212	ENSP00000257177:S212F;ENSP00000360599:S212F;ENSP00000433486:S212F;ENSP00000348063:S212F	ENSP00000257177:S212F	S	-	2	0	ZCCHC11	52763906	1.000000	0.71417	0.987000	0.45799	0.184000	0.23303	2.789000	0.47813	2.650000	0.89964	0.655000	0.94253	TCT	ZCCHC11	-	NULL	ENSG00000134744		0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	207	0.00	0	G	XM_038288		52991318	52991318	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	missense	186	10.95	23	SNP	0.975	A
ZFR	51663	genome.wustl.edu	37	5	32356003	32356003	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr5:32356003G>C	ENST00000265069.8	-	20	3190	c.3088C>G	c.(3088-3090)Cta>Gta	p.L1030V	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1030	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCCATGCCTAGAACTTTGTGT	0.398																																						dbGAP											0													187.0	170.0	176.0					5																	32356003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.3088C>G	5.37:g.32356003G>C	ENSP00000265069:p.Leu1030Val		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.L1030V	ENST00000265069.8	37	c.3088	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794372	0.31777	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.63096	-0.02	5.53	4.62	0.57501	DZF (2);	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.89904	3.07	0.58432	D	0.999994	D;D	0.69078	0.997;0.979	D;D	0.79108	0.992;0.973	D	0.84095	0.0392	10	0.87932	D	0	.	11.2261	0.48884	0.16:0.0:0.84:0.0	.	1009;1030	B5MEH6;Q96KR1	.;ZFR_HUMAN	V	1030;1009	ENSP00000265069:L1030V	ENSP00000265069:L1030V	L	-	1	2	ZFR	32391760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.542000	0.36137	1.255000	0.44051	0.585000	0.79938	CTA	ZFR	-	pfam_DZF,smart_DZF	ENSG00000056097		0.398	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	240	0.00	0	G			32356003	32356003	-1	no_errors	ENST00000265069	ensembl	human	known	69_37n	missense	234	13.97	38	SNP	1.000	C
ZNF526	116115	genome.wustl.edu	37	19	42729694	42729694	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:42729694G>A	ENST00000301215.3	+	3	1364	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R380Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCTCACCGGCGGGCCCACACT	0.622																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											57.0	61.0	60.0					19																	42729694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1139G>A	19.37:g.42729694G>A	ENSP00000301215:p.Arg380Gln		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R380Q	ENST00000301215.3	37	c.1139	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970922	0.74246	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.34275	1.37	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.090681	0.44902	D	0.000414	T	0.47097	0.1427	L	0.43554	1.36	0.27323	N	0.956985	D	0.76494	0.999	D	0.67900	0.954	T	0.30765	-0.9967	10	0.66056	D	0.02	-19.9134	9.8505	0.41055	0.0971:0.0:0.9029:0.0	.	380	Q8TF50	ZN526_HUMAN	Q	236;380	ENSP00000301215:R380Q	ENSP00000301215:R380Q	R	+	2	0	ZNF526	47421534	0.945000	0.32115	0.998000	0.56505	0.938000	0.57974	2.984000	0.49353	2.404000	0.81709	0.557000	0.71058	CGG	ZNF526	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167625		0.622	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	56	0.00	0	G	XM_057401		42729694	42729694	+1	no_errors	ENST00000301215	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.990	A
ZNRF4	148066	genome.wustl.edu	37	19	5456398	5456398	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:5456398T>A	ENST00000222033.4	+	1	973	c.896T>A	c.(895-897)gTc>gAc	p.V299D		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	299						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AAGGCCCAGGTCCGCACCTTC	0.612																																						dbGAP											0													72.0	79.0	77.0					19																	5456398		2124	4226	6350	-	-	-	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.896T>A	19.37:g.5456398T>A	ENSP00000222033:p.Val299Asp		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V299D	ENST00000222033.4	37	c.896	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843102	0.32606	.	.	ENSG00000105428	ENST00000222033	T	0.05513	3.43	4.27	3.24	0.37175	.	0.210353	0.38111	U	0.001806	T	0.06872	0.0175	L	0.34521	1.04	0.22866	N	0.998631	D	0.54601	0.967	P	0.49799	0.622	T	0.22800	-1.0206	10	0.87932	D	0	-23.394	3.1067	0.06344	0.2103:0.1149:0.0:0.6748	.	299	Q8WWF5	ZNRF4_HUMAN	D	299	ENSP00000222033:V299D	ENSP00000222033:V299D	V	+	2	0	ZNRF4	5407398	0.049000	0.20398	0.031000	0.17742	0.175000	0.22909	1.056000	0.30480	1.558000	0.49541	0.402000	0.26972	GTC	ZNRF4	-	NULL	ENSG00000105428		0.612	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	82	0.00	0	T	NM_181710		5456398	5456398	+1	no_errors	ENST00000222033	ensembl	human	known	69_37n	missense	31	17.95	7	SNP	0.002	A
ZNF551	90233	genome.wustl.edu	37	19	58199532	58199532	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A13Z-01A-11D-A10Y-09	TCGA-D8-A13Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c3722c97-80f5-4eea-bf50-5a214134bbcc	9b582ef6-8120-4a7a-be49-2c6c0d11713c	g.chr19:58199532T>G	ENST00000282296.5	+	3	2074	c.1889T>G	c.(1888-1890)cTt>cGt	p.L630R	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.L614R			Q7Z340	ZN551_HUMAN	zinc finger protein 551	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAATCAGACCTTATTCAGCAC	0.463																																						dbGAP											0													103.0	104.0	104.0					19																	58199532		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1889T>G	19.37:g.58199532T>G	ENSP00000282296:p.Leu630Arg		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L630R	ENST00000282296.5	37	c.1889	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743607	0.49151	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.51	2.51	0.30379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70430	0.3223	M	0.88842	2.985	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58244	-0.7670	8	0.87932	D	0	.	9.6508	0.39897	0.0:0.0:0.0:1.0	.	630	Q7Z340	ZN551_HUMAN	R	630;614;413	.	ENSP00000282296:L614R	L	+	2	0	ZNF551	62891344	0.404000	0.25328	0.007000	0.13788	0.284000	0.27059	4.114000	0.57858	1.164000	0.42652	0.459000	0.35465	CTT	ZNF551	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204519		0.463	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	100	0.00	0	T	NM_138347		58199532	58199532	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	missense	168	15.58	31	SNP	0.017	G
