#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
ABCC6	368	genome.wustl.edu	37	16	16244574	16244574	+	Missense_Mutation	SNP	T	T	G	rs549920304		TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr16:16244574T>G	ENST00000205557.7	-	30	4293	c.4264A>C	c.(4264-4266)Atc>Ctc	p.I1422L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGGATGAGGATCTGGGTCTTC	0.612													T|||	1	0.000199681	0.0	0.0	5008	,	,		19480	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													46.0	40.0	42.0					16																	16244574		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4264A>C	16.37:g.16244574T>G	ENSP00000205557:p.Ile1422Leu		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	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.I1422L	ENST00000205557.7	37	c.4264	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148199	0.78001	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.93019	-3.15	4.36	3.26	0.37387	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.158285	0.28821	U	0.014039	D	0.92185	0.7522	L	0.31578	0.945	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.63381	0.914;0.914	D	0.90359	0.4372	10	0.66056	D	0.02	.	6.7426	0.23445	0.0:0.263:0.0:0.737	.	1422;1422	O95255;A8Y988	MRP6_HUMAN;.	L	1422;360	ENSP00000205557:I1422L	ENSP00000205557:I1422L	I	-	1	0	ABCC6	16152075	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.763000	0.38461	0.666000	0.31087	0.448000	0.29417	ATC	ABCC6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	38	0.00	0	T			16244574	16244574	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	missense	23	54.90	28	SNP	1.000	G
ABCG2	9429	genome.wustl.edu	37	4	89018761	89018761	+	Splice_Site	DEL	T	T	-			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr4:89018761delT	ENST00000237612.3	-	13	2038		c.e13-2		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTTCAATCCTTAGTCAGAAA	0.418																																						dbGAP											0													78.0	72.0	74.0					4																	89018761		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1493-2A>-	4.37:g.89018761delT			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	DEL	-	e12-2	ENST00000237612.3	37	c.1493-2	CCDS3628.1	4																																																																																			ABCG2	-	-	ENSG00000118777		0.418	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	183	0.00	0	T	NM_004827	Intron	89018761	89018761	-1	no_errors	ENST00000237612	ensembl	human	known	69_37n	splice_site_del	102	34.16	55	DEL	0.954	-
AKT2	208	genome.wustl.edu	37	19	40761100	40761100	+	Silent	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:40761100G>A	ENST00000392038.2	-	4	550	c.252C>T	c.(250-252)atC>atT	p.I84I	AKT2_ENST00000424901.1_Silent_p.I84I|AKT2_ENST00000579047.1_Silent_p.I22I|AKT2_ENST00000311278.6_Silent_p.I84I	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGGTCCTCTCGATGACTGTGG	0.582			A		"""ovarian, pancreatic """																																	dbGAP		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													126.0	122.0	124.0					19																	40761100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.252C>T	19.37:g.40761100G>A			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Nonsense_Mutation	SNP	NULL	p.R26*	ENST00000392038.2	37	c.76	CCDS12552.1	19																																																																																			AKT2	-	NULL	ENSG00000105221		0.582	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	157	0.00	0	G	NM_001626		40761100	40761100	-1	no_errors	ENST00000391844	ensembl	human	known	69_37n	nonsense	89	11.88	12	SNP	0.975	A
ARAP2	116984	genome.wustl.edu	37	4	36126581	36126581	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr4:36126581C>A	ENST00000303965.4	-	22	4138	c.3649G>T	c.(3649-3651)Gat>Tat	p.D1217Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1217	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCCTTGTCATCTTGCGTATCT	0.358																																						dbGAP											0													125.0	127.0	126.0					4																	36126581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3649G>T	4.37:g.36126581C>A	ENSP00000302895:p.Asp1217Tyr		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.D1217Y	ENST00000303965.4	37	c.3649	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461437	0.63513	.	.	ENSG00000047365	ENST00000303965	T	0.27557	1.66	5.42	5.42	0.78866	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.370583	0.29300	N	0.012541	T	0.51058	0.1652	M	0.85462	2.755	0.44627	D	0.997605	D	0.58620	0.983	P	0.56398	0.797	T	0.57802	-0.7748	10	0.87932	D	0	.	9.5399	0.39246	0.0:0.8379:0.0:0.1621	.	1217	Q8WZ64	ARAP2_HUMAN	Y	1217	ENSP00000302895:D1217Y	ENSP00000302895:D1217Y	D	-	1	0	ARAP2	35802976	0.940000	0.31905	0.991000	0.47740	0.750000	0.42670	1.744000	0.38268	2.546000	0.85860	0.585000	0.79938	GAT	ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047365		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	727	0.14	1	C	NM_015230		36126581	36126581	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	missense	293	40.49	200	SNP	0.990	A
ATXN1	6310	genome.wustl.edu	37	6	16328427	16328427	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr6:16328427G>A	ENST00000244769.4	-	8	1051	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	ATXN1_ENST00000436367.1_Missense_Mutation_p.R39W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	39					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTCCACCCGGTGGTTGTCG	0.701																																						dbGAP											0													46.0	52.0	50.0					6																	16328427		2203	4299	6502	-	-	-	SO:0001583	missense	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.115C>T	6.37:g.16328427G>A	ENSP00000244769:p.Arg39Trp		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.R39W	ENST00000244769.4	37	c.115	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753278	0.69648	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.49432	0.78;0.78	5.01	-1.02	0.10135	.	0.055858	0.64402	D	0.000001	T	0.38241	0.1033	L	0.56769	1.78	0.38089	D	0.936919	D	0.76494	0.999	P	0.54210	0.745	T	0.43893	-0.9363	10	0.66056	D	0.02	-13.1733	9.7843	0.40666	0.0708:0.0:0.4399:0.4892	.	39	P54253	ATX1_HUMAN	W	39	ENSP00000244769:R39W;ENSP00000416360:R39W	ENSP00000244769:R39W	R	-	1	2	ATXN1	16436406	1.000000	0.71417	0.924000	0.36721	0.944000	0.59088	2.196000	0.42686	-0.038000	0.13624	0.462000	0.41574	CGG	ATXN1	-	NULL	ENSG00000124788		0.701	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	54	0.00	0	G	NM_000332		16328427	16328427	-1	no_errors	ENST00000244769	ensembl	human	known	69_37n	missense	24	49.02	25	SNP	0.998	A
C11orf63	79864	genome.wustl.edu	37	11	122774779	122774779	+	Missense_Mutation	SNP	A	A	C	rs147035469	byFrequency	TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr11:122774779A>C	ENST00000531316.1	+	2	583	c.491A>C	c.(490-492)tAc>tCc	p.Y164S	C11orf63_ENST00000307257.6_Missense_Mutation_p.Y164S|C11orf63_ENST00000227349.2_Missense_Mutation_p.Y164S			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	164					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.Y164C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCCCCTCTACCCTTCCCAG	0.517																																						dbGAP											2	Substitution - Missense(2)	lung(2)											59.0	67.0	65.0					11																	122774779		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.491A>C	11.37:g.122774779A>C	ENSP00000431669:p.Tyr164Ser		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.Y164S	ENST00000531316.1	37	c.491	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338480	0.41398	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.48836	0.8;0.8	5.53	3.14	0.36123	.	0.658088	0.14782	N	0.298718	T	0.36386	0.0965	L	0.57536	1.79	0.09310	N	1	B;B	0.32753	0.383;0.383	B;B	0.28849	0.095;0.095	T	0.18555	-1.0333	10	0.11182	T	0.66	-2.9796	7.0208	0.24912	0.7929:0.0:0.0736:0.1335	.	164;164	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	S	164	ENSP00000227349:Y164S;ENSP00000431669:Y164S	ENSP00000227349:Y164S	Y	+	2	0	C11orf63	122279989	0.743000	0.28239	0.869000	0.34112	0.275000	0.26752	2.193000	0.42658	0.996000	0.38943	0.533000	0.62120	TAC	C11orf63	-	NULL	ENSG00000109944		0.517	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	93	0.00	0	A	NM_024806		122774779	122774779	+1	no_errors	ENST00000227349	ensembl	human	known	69_37n	missense	46	15.79	9	SNP	0.054	C
C2orf47	79568	genome.wustl.edu	37	2	200826596	200826596	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr2:200826596G>T	ENST00000392290.1	+	4	938	c.742G>T	c.(742-744)Gtt>Ttt	p.V248F	C2orf47_ENST00000469156.1_Intron|C2orf47_ENST00000295079.2_Missense_Mutation_p.V248F			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	248						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TGTATTCCAGGTTAAGTTGGG	0.383																																						dbGAP											0													127.0	119.0	122.0					2																	200826596		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.742G>T	2.37:g.200826596G>T	ENSP00000376111:p.Val248Phe		Q658V9|Q9H671	Missense_Mutation	SNP	NULL	p.V248F	ENST00000392290.1	37	c.742	CCDS2329.1	2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.891988	0.52014	.	.	ENSG00000162972	ENST00000295079;ENST00000392290	T;T	0.51325	0.71;0.71	6.06	4.25	0.50352	.	0.213519	0.39544	N	0.001338	T	0.33381	0.0861	L	0.36672	1.1	0.45330	D	0.998321	P	0.41102	0.738	B	0.36808	0.233	T	0.10428	-1.0630	10	0.36615	T	0.2	-16.7554	8.4422	0.32822	0.078:0.0:0.7665:0.1555	.	248	Q8WWC4	CB047_HUMAN	F	248	ENSP00000295079:V248F;ENSP00000376111:V248F	ENSP00000295079:V248F	V	+	1	0	C2orf47	200534841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.405000	0.34635	1.550000	0.49438	0.650000	0.86243	GTT	C2orf47	-	NULL	ENSG00000162972		0.383	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf47	HGNC	protein_coding	OTTHUMT00000256146.1	102	0.00	0	G	NM_024520		200826596	200826596	+1	no_errors	ENST00000295079	ensembl	human	known	69_37n	missense	61	30.68	27	SNP	1.000	T
CDH26	60437	genome.wustl.edu	37	20	58547144	58547144	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr20:58547144G>A	ENST00000244047.5	+	4	670	c.359G>A	c.(358-360)cGc>cAc	p.R120H	CDH26_ENST00000348616.4_Missense_Mutation_p.R120H			Q8IXH8	CAD26_HUMAN	cadherin 26	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TATGTTCACCGCCCTGTCGAT	0.388																																						dbGAP											0													141.0	129.0	133.0					20																	58547144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.359G>A	20.37:g.58547144G>A	ENSP00000244047:p.Arg120His		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R120H	ENST00000244047.5	37	c.359		20	.	.	.	.	.	.	.	.	.	.	.	15.43	2.832050	0.50845	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.62364	0.03;0.03	5.13	-2.06	0.07298	.	0.491314	0.21379	N	0.075502	T	0.74238	0.3690	M	0.85373	2.75	0.19300	N	0.999971	D	0.89917	1.0	D	0.76575	0.988	T	0.64080	-0.6491	10	0.87932	D	0	.	6.2926	0.21069	0.3443:0.0:0.5423:0.1134	.	120	Q8IXH8-4	.	H	120	ENSP00000244047:R120H;ENSP00000339390:R120H	ENSP00000244047:R120H	R	+	2	0	CDH26	57980539	0.014000	0.17966	0.001000	0.08648	0.453000	0.32348	0.376000	0.20535	-0.187000	0.10516	0.650000	0.86243	CGC	CDH26	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000124215		0.388	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		165	0.60	1	G	NM_177980		58547144	58547144	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	missense	115	44.44	92	SNP	0.019	A
CDK4	1019	genome.wustl.edu	37	12	58144765	58144765	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr12:58144765T>G	ENST00000257904.6	-	4	828	c.463A>C	c.(463-465)Aag>Cag	p.K155Q	CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.K35Q|CDK4_ENST00000312990.6_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCAGCCAGCTTGACTGTTCCA	0.502			Mis			melanoma			Hereditary Melanoma																													dbGAP	yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													108.0	105.0	106.0					12																	58144765		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.463A>C	12.37:g.58144765T>G	ENSP00000257904:p.Lys155Gln		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K155Q	ENST00000257904.6	37	c.463	CCDS8953.1	12	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020225	0.75275	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;1.37;1.37	4.66	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80495	-0.1357	10	0.87932	D	0	.	9.5979	0.39584	0.0:0.0848:0.0:0.9152	.	155	P11802	CDK4_HUMAN	Q	155;35;81;81;81;155;155	ENSP00000257904:K155Q;ENSP00000439076:K35Q;ENSP00000447779:K81Q;ENSP00000447274:K81Q;ENSP00000449391:K81Q;ENSP00000449179:K155Q;ENSP00000448963:K155Q	ENSP00000257904:K155Q	K	-	1	0	CDK4	56431032	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.640000	0.83355	0.926000	0.37118	0.533000	0.62120	AAG	CDK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000135446		0.502	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK4	HGNC	protein_coding	OTTHUMT00000408790.2	104	0.00	0	T	NM_000075		58144765	58144765	-1	no_errors	ENST00000257904	ensembl	human	known	69_37n	missense	109	27.81	42	SNP	1.000	G
CISH	1154	genome.wustl.edu	37	3	50645186	50645187	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr3:50645186_50645187insG	ENST00000348721.3	-	3	808_809	c.628_629insC	c.(628-630)ctgfs	p.L210fs	CISH_ENST00000443053.2_Frame_Shift_Ins_p.L227fs	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	210	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGGCTGCACCAGTTTTAGGTGT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.629dupC	3.37:g.50645187_50645187dupG	ENSP00000294173:p.Leu210fs		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Frame_Shift_Ins	INS	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.L227fs	ENST00000348721.3	37	c.680_679	CCDS2831.1	3																																																																																			CISH	-	pfscan_SOCS_C	ENSG00000114737		0.629	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISH	HGNC	protein_coding	OTTHUMT00000346245.1	32	0.00	0	-	NM_145071		50645186	50645187	-1	no_errors	ENST00000443053	ensembl	human	known	69_37n	frame_shift_ins	23	20.69	6	INS	1.000:1.000	G
CPSF1	29894	genome.wustl.edu	37	8	145625003	145625003	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr8:145625003C>A	ENST00000349769.3	-	12	1311	c.1217G>T	c.(1216-1218)aGt>aTt	p.S406I	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	406					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACGGACAGCACTGGCCGGGGG	0.637																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													20.0	23.0	22.0					8																	145625003		2196	4297	6493	-	-	-	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1217G>T	8.37:g.145625003C>A	ENSP00000339353:p.Ser406Ile		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.S406I	ENST00000349769.3	37	c.1217	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798789	0.31777	.	.	ENSG00000071894	ENST00000349769	T	0.50277	0.75	5.47	4.6	0.57074	.	0.185655	0.52532	D	0.000063	T	0.36026	0.0952	N	0.17631	0.505	0.35232	D	0.777031	B	0.20459	0.045	B	0.33121	0.158	T	0.44251	-0.9340	10	0.40728	T	0.16	1.2727	10.2166	0.43173	0.0:0.9075:0.0:0.0925	.	406	Q10570	CPSF1_HUMAN	I	406	ENSP00000339353:S406I	ENSP00000339353:S406I	S	-	2	0	CPSF1	145595811	0.071000	0.21146	0.689000	0.30133	0.723000	0.41478	0.848000	0.27710	1.316000	0.45131	0.400000	0.26472	AGT	CPSF1	-	NULL	ENSG00000071894		0.637	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	32	0.00	0	C	NM_013291		145625003	145625003	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	missense	25	34.21	13	SNP	0.984	A
EGR1	1958	genome.wustl.edu	37	5	137801480	137801480	+	Silent	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr5:137801480G>A	ENST00000239938.4	+	1	302	c.30G>A	c.(28-30)ctG>ctA	p.L10L		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	10					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGATGCAGCTGATGTCCCCGC	0.657																																						dbGAP											0													65.0	57.0	60.0					5																	137801480		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.30G>A	5.37:g.137801480G>A				Silent	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L10	ENST00000239938.4	37	c.30	CCDS4206.1	5																																																																																			EGR1	-	NULL	ENSG00000120738		0.657	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	54	0.00	0	G	NM_001964		137801480	137801480	+1	no_errors	ENST00000239938	ensembl	human	known	69_37n	silent	28	28.21	11	SNP	1.000	A
EML6	400954	genome.wustl.edu	37	2	55090940	55090940	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr2:55090940A>G	ENST00000356458.6	+	12	2366	c.1846A>G	c.(1846-1848)Agt>Ggt	p.S616G		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	616						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						TGATTCCTACAGTGAAGAATC	0.403																																						dbGAP											0													87.0	71.0	76.0					2																	55090940		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.1846A>G	2.37:g.55090940A>G	ENSP00000348842:p.Ser616Gly		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S616G	ENST00000356458.6	37	c.1846	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740362	0.89573	.	.	ENSG00000214595	ENST00000356458	T	0.36340	1.26	5.42	5.42	0.78866	.	0.000000	0.30556	U	0.009368	T	0.49236	0.1545	M	0.65498	2.005	0.49915	D	0.999839	P	0.49090	0.919	P	0.51297	0.665	T	0.48246	-0.9052	10	0.41790	T	0.15	.	15.4529	0.75290	1.0:0.0:0.0:0.0	.	616	Q6ZMW3	EMAL6_HUMAN	G	616	ENSP00000348842:S616G	ENSP00000348842:S616G	S	+	1	0	EML6	54944444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.873000	0.92357	2.044000	0.60594	0.482000	0.46254	AGT	EML6	-	NULL	ENSG00000214595		0.403	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	75	0.00	0	A	XM_001725002		55090940	55090940	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	missense	40	27.27	15	SNP	1.000	G
RP1-274L7.1	0	genome.wustl.edu	37	X	129629117	129629117	+	lincRNA	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chrX:129629117G>A	ENST00000458525.1	-	0	1078				FAM45B_ENST00000592932.1_RNA																							AGAGCTGCGCGCCGCGGCGGC	0.542																																						dbGAP											0													38.0	40.0	39.0					X																	129629117		2202	4299	6501	-	-	-			0																															X.37:g.129629117G>A				RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			RP1-274L7.1	-	-	ENSG00000229702		0.542	RP1-274L7.1-001	KNOWN	basic	lincRNA	ENSG00000229702	Clone_based_vega_gene	lincRNA	OTTHUMT00000058271.1	308	0.00	0	G			129629117	129629117	-1	no_errors	ENST00000458525	ensembl	human	known	69_37n	rna	175	42.30	129	SNP	0.000	A
EPPK1	83481	genome.wustl.edu	37	8	144945362	144945363	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr8:144945362_144945363delGC	ENST00000525985.1	-	2	2130_2131	c.2059_2060delGC	c.(2059-2061)gctfs	p.A687fs				P58107	EPIPL_HUMAN	epiplakin 1	687						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGTGACAGCGCGCTCAGCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2059_2060delGC	8.37:g.144945366_144945367delGC	ENSP00000436337:p.Ala687fs		Q76E58|Q9NSU9	Frame_Shift_Del	DEL	pfam_Plectin_repeat,smart_Plectin_repeat	p.A687fs	ENST00000525985.1	37	c.2060_2059		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.624	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	14	0.00	0	GC	NM_031308		144945362	144945363	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	frame_shift_del	6	40.00	4	DEL	0.999:0.999	-
FBN3	84467	genome.wustl.edu	37	19	8176051	8176051	+	Frame_Shift_Del	DEL	G	G	-	rs562690243		TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:8176051delG	ENST00000600128.1	-	33	4515	c.4101delC	c.(4099-4101)gccfs	p.A1367fs	FBN3_ENST00000270509.2_Frame_Shift_Del_p.A1367fs|FBN3_ENST00000601739.1_Frame_Shift_Del_p.A1367fs			Q75N90	FBN3_HUMAN	fibrillin 3	1367	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACGTTCTCGGCACATTCAT	0.652																																						dbGAP											0													73.0	65.0	68.0					19																	8176051		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4101delC	19.37:g.8176051delG	ENSP00000470498:p.Ala1367fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E1368fs	ENST00000600128.1	37	c.4101	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	181	0.00	0	G	NM_032447		8176051	8176051	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_del	68	23.33	21	DEL	0.042	-
ERCC2	2068	genome.wustl.edu	37	19	45868130	45868130	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:45868130T>C	ENST00000391945.4	-	7	637	c.560A>G	c.(559-561)cAg>cGg	p.Q187R	ERCC2_ENST00000391944.3_Intron|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.Q163R|ERCC2_ENST00000391940.4_Missense_Mutation_p.Q163R	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	187	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCACCAGCCCTGGCGCCGCCC	0.652			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	0													46.0	47.0	47.0					19																	45868130		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.560A>G	19.37:g.45868130T>C	ENSP00000375809:p.Gln187Arg		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.Q187R	ENST00000391945.4	37	c.560	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159528	0.38119	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391940	T;T	0.70869	-0.52;0.99	4.49	4.49	0.54785	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.247238	0.39210	N	0.001430	T	0.40522	0.1120	N	0.01761	-0.735	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38908	-0.9639	10	0.09338	T	0.73	-12.9301	12.0474	0.53487	0.0:0.0:0.0:1.0	.	163;187	Q7KZU6;P18074	.;ERCC2_HUMAN	R	137;163;187;163	ENSP00000375809:Q187R;ENSP00000375804:Q163R	ENSP00000375804:Q163R	Q	-	2	0	ERCC2	50559970	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.048000	0.64238	2.018000	0.59344	0.459000	0.35465	CAG	ERCC2	-	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000104884		0.652	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	50	0.00	0	T	NM_000400		45868130	45868130	-1	no_errors	ENST00000391945	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	C
FLOT1	10211	genome.wustl.edu	37	6	30698819	30698819	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr6:30698819C>T	ENST00000376389.3	-	9	1002	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	FLOT1_ENST00000456573.2_Missense_Mutation_p.R213Q	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CTGCTGGGCCCGCTCCACCAC	0.657																																						dbGAP											0													56.0	63.0	61.0					6																	30698819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.782G>A	6.37:g.30698819C>T	ENSP00000365569:p.Arg261Gln		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.R261Q	ENST00000376389.3	37	c.782	CCDS4688.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.292937	0.95546	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165	T;T	0.35973	1.32;1.28	4.23	4.23	0.50019	.	0.134270	0.49916	D	0.000140	T	0.41119	0.1145	L	0.52573	1.65	0.53688	D	0.999975	D;D	0.65815	0.99;0.995	P;P	0.60173	0.87;0.87	T	0.38585	-0.9654	10	0.87932	D	0	0.0582	14.5659	0.68176	0.0:1.0:0.0:0.0	.	213;261	B4DVY7;O75955	.;FLOT1_HUMAN	Q	261;213;198	ENSP00000365569:R261Q;ENSP00000394375:R213Q	ENSP00000365569:R261Q	R	-	2	0	FLOT1	30806798	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.699000	0.68310	2.369000	0.80426	0.650000	0.86243	CGG	FLOT1	-	smart_Band_7	ENSG00000137312		0.657	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLOT1	HGNC	protein_coding	OTTHUMT00000076276.2	66	0.00	0	C			30698819	30698819	-1	no_errors	ENST00000376389	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	1.000	T
FRMPD4	9758	genome.wustl.edu	37	X	12735775	12735775	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chrX:12735775C>T	ENST00000380682.1	+	16	3336	c.2830C>T	c.(2830-2832)Cac>Tac	p.H944Y		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	944					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAAGGCTACCACCCCCTTGC	0.572																																						dbGAP											0													114.0	112.0	112.0					X																	12735775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2830C>T	X.37:g.12735775C>T	ENSP00000370057:p.His944Tyr		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.H944Y	ENST00000380682.1	37	c.2830	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217347	0.58560	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06142	3.34	5.87	5.87	0.94306	.	0.153119	0.64402	D	0.000015	T	0.09818	0.0241	L	0.60455	1.87	0.37022	D	0.896253	P;D	0.55172	0.945;0.97	B;B	0.38020	0.263;0.263	T	0.07462	-1.0771	10	0.66056	D	0.02	-7.6462	19.1908	0.93666	0.0:1.0:0.0:0.0	.	936;944	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Y	944;935;933	ENSP00000370057:H944Y	ENSP00000304583:H933Y	H	+	1	0	FRMPD4	12645696	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.399000	0.79935	2.483000	0.83821	0.600000	0.82982	CAC	FRMPD4	-	NULL	ENSG00000169933		0.572	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	91	0.00	0	C	XM_045712		12735775	12735775	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	1.000	T
FZD2	2535	genome.wustl.edu	37	17	42636265	42636265	+	Silent	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr17:42636265C>T	ENST00000315323.3	+	1	1341	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	403					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGTGTGCTTCGTAGGCCTCA	0.662																																						dbGAP											0													73.0	72.0	72.0					17																	42636265		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1209C>T	17.37:g.42636265C>T			Q0VG82	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.F403	ENST00000315323.3	37	c.1209	CCDS11484.1	17																																																																																			FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.662	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	48	0.00	0	C	NM_001466		42636265	42636265	+1	no_errors	ENST00000315323	ensembl	human	known	69_37n	silent	20	45.95	17	SNP	0.977	T
GALNT5	11227	genome.wustl.edu	37	2	158115248	158115248	+	Silent	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr2:158115248G>A	ENST00000259056.4	+	1	1139	c.654G>A	c.(652-654)gtG>gtA	p.V218V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	218					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACTTGAATGTGACCATCAGTC	0.517																																						dbGAP											0													51.0	54.0	53.0					2																	158115248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.654G>A	2.37:g.158115248G>A			A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V218	ENST00000259056.4	37	c.654	CCDS2203.1	2																																																																																			GALNT5	-	NULL	ENSG00000136542		0.517	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	101	0.00	0	G	NM_014568		158115248	158115248	+1	no_errors	ENST00000259056	ensembl	human	known	69_37n	silent	49	43.02	37	SNP	0.043	A
GPR108	56927	genome.wustl.edu	37	19	6737533	6737534	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:6737533_6737534insC	ENST00000264080.7	-	1	80_81	c.54_55insG	c.(52-57)gggcagfs	p.Q19fs	TRIP10_ENST00000600428.1_5'Flank|TRIP10_ENST00000313285.8_5'Flank|TRIP10_ENST00000596758.1_5'Flank|GPR108_ENST00000430424.4_5'Flank|TRIP10_ENST00000313244.9_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	19						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGTAGCCGCTGCCCCCACTCCG	0.748																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.55dupG	19.37:g.6737538_6737538dupC	ENSP00000264080:p.Gln19fs		B9EJD7	Frame_Shift_Ins	INS	pfam_TM_rcpt_euk	p.Q18fs	ENST00000264080.7	37	c.55_54	CCDS42479.1	19																																																																																			GPR108	-	NULL	ENSG00000125734		0.748	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR108	HGNC	protein_coding	OTTHUMT00000407508.2	19	0.00	0	-			6737533	6737534	-1	no_errors	ENST00000264080	ensembl	human	known	69_37n	frame_shift_ins	1	66.67	2	INS	0.246:0.396	C
GMIP	51291	genome.wustl.edu	37	19	19746227	19746227	+	Silent	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:19746227C>T	ENST00000203556.4	-	15	1694	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	GMIP_ENST00000587238.1_Silent_p.E493E|GMIP_ENST00000445806.2_Silent_p.E490E|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	519					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCACACCTCCTCACACTCCG	0.622																																						dbGAP											0													124.0	109.0	114.0					19																	19746227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1557G>A	19.37:g.19746227C>T			A0AVN9|B7ZLZ0	Missense_Mutation	SNP	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R263K	ENST00000203556.4	37	c.788	CCDS12408.1	19																																																																																			GMIP	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000089639		0.622	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	111	0.00	0	C	NM_016573		19746227	19746227	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000593186	ensembl	human	novel	69_37n	missense	47	36.49	27	SNP	1.000	T
HTR1E	3354	genome.wustl.edu	37	6	87726143	87726144	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr6:87726143_87726144insT	ENST00000305344.5	+	2	1794_1795	c.1091_1092insT	c.(1090-1095)catactfs	p.T365fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	365					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGCCGAGAGCATACTTAGACTG	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1092dupT	6.37:g.87726144_87726144dupT	ENSP00000307766:p.Thr365fs		E1P503|Q9P1Y1	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T365fs	ENST00000305344.5	37	c.1091_1092	CCDS5006.1	6																																																																																			HTR1E	-	NULL	ENSG00000168830		0.406	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	105	0.00	0	-	NM_000865		87726143	87726144	+1	no_errors	ENST00000305344	ensembl	human	known	69_37n	frame_shift_ins	140	10.26	16	INS	1.000:0.102	T
LDLRAD1	388633	genome.wustl.edu	37	1	54479916	54479916	+	Silent	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:54479916G>A	ENST00000371360.1	-	3	212	c.195C>T	c.(193-195)tgC>tgT	p.C65C	LDLRAD1_ENST00000371362.3_Intron|LDLRAD1_ENST00000545928.1_Intron|LDLRAD1_ENST00000420619.1_Intron	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	65						integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						GACCTGGGGTGCATGATGGGA	0.672																																						dbGAP											0													27.0	27.0	27.0					1																	54479916		2196	4290	6486	-	-	-	SO:0001819	synonymous_variant	0				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.195C>T	1.37:g.54479916G>A			A0PJY0|B7ZME3|Q5T6Z9	Silent	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.C65	ENST00000371360.1	37	c.195	CCDS30725.1	1																																																																																			LDLRAD1	-	NULL	ENSG00000203985		0.672	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD1	HGNC	protein_coding	OTTHUMT00000023243.1	62	0.00	0	G	NM_001010978		54479916	54479916	-1	no_errors	ENST00000371360	ensembl	human	known	69_37n	silent	5	70.59	12	SNP	0.001	A
KDM5B	10765	genome.wustl.edu	37	1	202746170	202746170	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:202746170C>T	ENST00000367265.3	-	2	1421	c.257G>A	c.(256-258)cGt>cAt	p.R86H	KDM5B_ENST00000367264.2_Missense_Mutation_p.R86H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	86					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTCTGGATACGTGGCGTAAA	0.373																																						dbGAP											0													184.0	180.0	181.0					1																	202746170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.257G>A	1.37:g.202746170C>T	ENSP00000356234:p.Arg86His		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R86H	ENST00000367265.3	37	c.257	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.667847	0.96745	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.955	D	0.85754	0.1345	10	0.87932	D	0	-18.8773	19.967	0.97274	0.0:1.0:0.0:0.0	.	86;86	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	86	ENSP00000356234:R86H;ENSP00000356233:R86H	ENSP00000356233:R86H	R	-	2	0	KDM5B	201012793	1.000000	0.71417	0.697000	0.30258	0.926000	0.56050	7.772000	0.85439	2.714000	0.92807	0.655000	0.94253	CGT	KDM5B	-	superfamily_ARID/BRIGHT_DNA-bd	ENSG00000117139		0.373	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	199	0.00	0	C	NM_006618		202746170	202746170	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	198	20.48	51	SNP	0.987	T
LRRC70	100130733	genome.wustl.edu	37	5	61876059	61876059	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr5:61876059G>C	ENST00000334994.5	+	2	1033	c.794G>C	c.(793-795)aGg>aCg	p.R265T	LRRC70_ENST00000491184.2_Intron|IPO11_ENST00000325324.6_Intron|LRRC70_ENST00000448151.2_Intron|IPO11_ENST00000409534.1_Intron|IPO11_ENST00000409296.3_Intron	NM_181506.4	NP_852607.3	Q7Z2Q7	LRR70_HUMAN	leucine rich repeat containing 70	265						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						TCAAGAATTAGGAATGTTACT	0.323																																						dbGAP											0													26.0	22.0	23.0					5																	61876059		692	1585	2277	-	-	-	SO:0001583	missense	0				CCDS47218.1	5q12.1	2008-12-18			ENSG00000186105	ENSG00000186105			35155	protein-coding gene	gene with protein product	"""synleurin"""						Standard	NM_181506		Approved	SLRN, LOC100130733	uc011cqs.1	Q7Z2Q7	OTTHUMG00000154401	ENST00000334994.5:c.794G>C	5.37:g.61876059G>C	ENSP00000399441:p.Arg265Thr		Q6ZWI5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R265T	ENST00000334994.5	37	c.794	CCDS47218.1	5	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.590429	0.00864	.	.	ENSG00000186105	ENST00000334994	T	0.21361	2.01	3.96	0.114	0.14639	.	.	.	.	.	T	0.07007	0.0178	N	0.03983	-0.305	0.80722	D	1	B	0.19073	0.033	B	0.21917	0.037	T	0.31052	-0.9957	8	.	.	.	.	3.9836	0.09506	0.6527:0.0:0.1947:0.1526	.	265	Q7Z2Q7	LRR70_HUMAN	T	265	ENSP00000399441:R265T	.	R	+	2	0	LRRC70	61911815	0.988000	0.35896	0.998000	0.56505	0.960000	0.62799	1.712000	0.37940	0.008000	0.14787	-0.302000	0.09304	AGG	LRRC70	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000186105		0.323	LRRC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC70	HGNC	protein_coding	OTTHUMT00000335067.3	45	0.00	0	G	XR_042302		61876059	61876059	+1	no_errors	ENST00000334994	ensembl	human	known	69_37n	missense	6	84.21	32	SNP	0.995	C
MAGEB6	158809	genome.wustl.edu	37	X	26212915	26212915	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chrX:26212915G>T	ENST00000379034.1	+	2	1101	c.952G>T	c.(952-954)Gat>Tat	p.D318Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	318	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGGGATATATGATGGGATCCT	0.502																																						dbGAP											0													182.0	176.0	178.0					X																	26212915		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.952G>T	X.37:g.26212915G>T	ENSP00000368320:p.Asp318Tyr		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D318Y	ENST00000379034.1	37	c.952	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478632	0.26511	.	.	ENSG00000176746	ENST00000379034	T	0.05319	3.46	3.29	-2.11	0.07187	.	0.376195	0.25978	U	0.027099	T	0.15739	0.0379	M	0.92367	3.3	0.09310	N	1	P	0.48640	0.913	P	0.51229	0.663	T	0.06144	-1.0843	10	0.62326	D	0.03	.	3.4818	0.07605	0.115:0.4903:0.2351:0.1595	.	318	Q8N7X4	MAGB6_HUMAN	Y	318	ENSP00000368320:D318Y	ENSP00000368320:D318Y	D	+	1	0	MAGEB6	26122836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.209000	0.03002	-0.716000	0.04962	-1.057000	0.02308	GAT	MAGEB6	-	pfam_MAGE,pfscan_MAGE	ENSG00000176746		0.502	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	264	0.00	0	G	NM_173523		26212915	26212915	+1	no_errors	ENST00000379034	ensembl	human	known	69_37n	missense	154	38.40	96	SNP	0.000	T
MAS1L	116511	genome.wustl.edu	37	6	29454672	29454672	+	Silent	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr6:29454672C>T	ENST00000377127.3	-	1	1066	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	336					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TATCTGCTAACGCCCGTTGGA	0.488																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													141.0	142.0	142.0					6																	29454672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1008G>A	6.37:g.29454672C>T			Q5SUN5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A336	ENST00000377127.3	37	c.1008	CCDS4661.1	6																																																																																			MAS1L	-	NULL	ENSG00000204687		0.488	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	129	0.00	0	C	NM_052967		29454672	29454672	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	silent	122	21.66	34	SNP	0.000	T
MPP3	4356	genome.wustl.edu	37	17	41909250	41909250	+	Splice_Site	SNP	C	C	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr17:41909250C>A	ENST00000398389.4	-	3	190	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	MPP3_ENST00000398393.1_Splice_Site_p.G34C	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	9	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGTACTTACCAGAGTCCTCC	0.617																																						dbGAP											0													29.0	35.0	33.0					17																	41909250		1945	4134	6079	-	-	-	SO:0001630	splice_region_variant	0				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.25+1G>T	17.37:g.41909250C>A			B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G9C	ENST00000398389.4	37	c.25	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382730	0.82792	.	.	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.19250	2.16;2.17	5.53	5.53	0.82687	L27 (1);	0.110431	0.64402	D	0.000008	T	0.44623	0.1302	L	0.61218	1.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.996;0.996	D;P;P	0.91635	0.999;0.809;0.593	T	0.07065	-1.0792	9	.	.	.	.	16.7748	0.85548	0.0:1.0:0.0:0.0	.	34;9;34	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	C	34;9;34	ENSP00000381430:G34C;ENSP00000381425:G9C	.	G	-	1	0	MPP3	39264776	0.993000	0.37304	0.951000	0.38953	0.705000	0.40729	3.902000	0.56310	2.882000	0.98803	0.655000	0.94253	GGT	MPP3	-	pfscan_L27	ENSG00000161647		0.617	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	48	0.00	0	C	NM_001932	Missense_Mutation	41909250	41909250	-1	no_errors	ENST00000398389	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	0.983	A
MTOR	2475	genome.wustl.edu	37	1	11319442	11319442	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:11319442C>T	ENST00000361445.4	-	2	101	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	9	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCGGTGGTGGCGGCGGCAGGT	0.498																																						dbGAP											0													102.0	109.0	106.0					1																	11319442		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.25G>A	1.37:g.11319442C>T	ENSP00000354558:p.Ala9Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A9T	ENST00000361445.4	37	c.25	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019322	0.75275	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08896	3.04	4.31	4.31	0.51392	.	0.148380	0.44097	D	0.000493	T	0.08447	0.0210	N	0.12182	0.205	0.80722	D	1	D	0.53312	0.959	P	0.58210	0.835	T	0.13710	-1.0499	10	0.02654	T	1	-3.9239	12.601	0.56497	0.0:1.0:0.0:0.0	.	9	P42345	MTOR_HUMAN	T	9	ENSP00000354558:A9T	ENSP00000354558:A9T	A	-	1	0	MTOR	11242029	0.903000	0.30736	0.952000	0.39060	0.960000	0.62799	0.888000	0.28268	2.685000	0.91497	0.655000	0.94253	GCC	MTOR	-	NULL	ENSG00000198793		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	110	0.00	0	C	NM_004958		11319442	11319442	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	26	69.05	58	SNP	0.981	T
MUC4	4585	genome.wustl.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A	rs369770584		TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577																																						dbGAP											0													15.0	15.0	15.0					3																	195511959		676	1556	2232	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6492C>T	3.37:g.195511959G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T2164	ENST00000463781.3	37	c.6492	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	32	0.00	0	G	NM_018406		195511959	195511959	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	45	15.09	8	SNP	0.632	A
NLRP2	55655	genome.wustl.edu	37	19	55494133	55494133	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:55494133T>G	ENST00000543010.1	+	6	1210	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	NLRP2_ENST00000537859.1_Missense_Mutation_p.V334G|NLRP2_ENST00000448584.2_Missense_Mutation_p.V356G|NLRP2_ENST00000339757.7_Missense_Mutation_p.V334G|NLRP2_ENST00000263437.6_Missense_Mutation_p.V353G|NLRP2_ENST00000538819.1_Missense_Mutation_p.V332G|NLRP2_ENST00000427260.2_Missense_Mutation_p.V333G|NLRP2_ENST00000391721.4_Missense_Mutation_p.V332G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	356	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TACATAAGGGTGGAGGGCTTC	0.617																																						dbGAP											0													34.0	33.0	33.0					19																	55494133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1067T>G	19.37:g.55494133T>G	ENSP00000445135:p.Val356Gly		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V356G	ENST00000543010.1	37	c.1067	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760585	0.49468	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	1.55	1.55	0.23275	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.89497	0.6732	M	0.84846	2.72	0.18873	N	0.999989	D;D;D;D;D	0.67145	0.993;0.991;0.993;0.983;0.996	D;P;D;P;D	0.68039	0.955;0.881;0.928;0.881;0.928	T	0.77930	-0.2403	9	0.87932	D	0	.	7.1971	0.25860	0.0:0.0:0.0:1.0	.	333;334;353;332;356	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	G	356;332;334;356;334;333;332;353	ENSP00000445135:V356G;ENSP00000375601:V332G;ENSP00000344074:V334G;ENSP00000409370:V356G;ENSP00000440601:V334G;ENSP00000402474:V333G;ENSP00000441133:V332G;ENSP00000263437:V353G	ENSP00000263437:V353G	V	+	2	0	NLRP2	60185945	0.256000	0.24012	0.002000	0.10522	0.085000	0.17905	4.025000	0.57225	0.998000	0.38996	0.397000	0.26171	GTG	NLRP2	-	pfscan_NACHT_NTPase	ENSG00000022556		0.617	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	32	0.00	0	T	NM_017852		55494133	55494133	+1	no_errors	ENST00000448584	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	0.030	G
NPC1	4864	genome.wustl.edu	37	18	21114479	21114479	+	Silent	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr18:21114479C>T	ENST00000269228.5	-	23	4076	c.3522G>A	c.(3520-3522)gcG>gcA	p.A1174A	NPC1_ENST00000412552.2_Silent_p.A856A	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1174			A -> V (in NPC1). {ECO:0000269|PubMed:16126423}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCACCGTGAACGCTCTGGTTA	0.592																																						dbGAP											0													76.0	62.0	67.0					18																	21114479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3522G>A	18.37:g.21114479C>T			B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.R867H	ENST00000269228.5	37	c.2600	CCDS11878.1	18																																																																																			NPC1	-	pfam_Patched,tigrfam_NP_C_type	ENSG00000141458		0.592	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	111	0.00	0	C	NM_000271		21114479	21114479	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591051	ensembl	human	putative	69_37n	missense	60	28.57	24	SNP	0.000	T
NPHS2	7827	genome.wustl.edu	37	1	179523663	179523663	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:179523663C>T	ENST00000367615.4	-	6	810	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	AXDND1_ENST00000367618.3_3'UTR|NPHS2_ENST00000367616.4_Missense_Mutation_p.A180T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	248					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAATCCAAGGCAACCTGTGGA	0.433																																						dbGAP											0													119.0	119.0	119.0					1																	179523663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.742G>A	1.37:g.179523663C>T	ENSP00000356587:p.Ala248Thr		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.A248T	ENST00000367615.4	37	c.742	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889305	0.52014	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99591	-6.24;-6.24	5.4	5.4	0.78164	Band 7/stomatin-like, conserved site (1);	0.114112	0.64402	D	0.000017	D	0.98242	0.9418	N	0.13352	0.335	0.23464	N	0.997627	P;P	0.46859	0.873;0.885	P;P	0.51297	0.541;0.665	D	0.91670	0.5349	10	0.02654	T	1	-18.9869	17.7462	0.88421	0.0:1.0:0.0:0.0	.	180;248	Q9NP85-2;Q9NP85	.;PODO_HUMAN	T	248;180	ENSP00000356587:A248T;ENSP00000356588:A180T	ENSP00000356587:A248T	A	-	1	0	NPHS2	177790286	0.981000	0.34729	0.985000	0.45067	0.961000	0.63080	2.523000	0.45580	2.531000	0.85337	0.591000	0.81541	GCC	NPHS2	-	pfam_Band_7,smart_Band_7,prints_Stomatin	ENSG00000116218		0.433	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	154	0.00	0	C			179523663	179523663	-1	no_errors	ENST00000367615	ensembl	human	known	69_37n	missense	85	35.34	47	SNP	0.996	T
NYAP1	222950	genome.wustl.edu	37	7	100084731	100084731	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr7:100084731G>A	ENST00000300179.2	+	3	515	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	NYAP1_ENST00000423930.1_Missense_Mutation_p.R119Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R62Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	119	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCCAAGCCCCGGAGACACCCC	0.682																																						dbGAP											0													18.0	25.0	23.0					7																	100084731		2187	4268	6455	-	-	-	SO:0001583	missense	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.356G>A	7.37:g.100084731G>A	ENSP00000300179:p.Arg119Gln		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	NULL	p.R119Q	ENST00000300179.2	37	c.356	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226770	0.58668	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.49139	0.79;0.79;0.79	5.55	3.75	0.43078	.	0.000000	0.46442	D	0.000290	T	0.35364	0.0929	L	0.38175	1.15	0.34228	D	0.676198	B	0.06786	0.001	B	0.04013	0.001	T	0.39542	-0.9609	10	0.56958	D	0.05	-9.023	7.8565	0.29485	0.2546:0.0:0.7454:0.0	.	119	Q6ZVC0	CG051_HUMAN	Q	119;119;62	ENSP00000300179:R119Q;ENSP00000411861:R119Q;ENSP00000394424:R62Q	ENSP00000300179:R119Q	R	+	2	0	C7orf51	99922667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.261000	0.65496	0.706000	0.31912	0.462000	0.41574	CGG	NYAP1	-	NULL	ENSG00000166924		0.682	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	37	0.00	0	G	NM_173564		100084731	100084731	+1	no_errors	ENST00000423930	ensembl	human	known	69_37n	missense	9	33.33	5	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228464221	228464221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:228464221delG	ENST00000422127.1	+	22	6335	c.6291delG	c.(6289-6291)gagfs	p.E2097fs	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.E2097fs|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.E2472fs|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Frame_Shift_Del_p.E944fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2097	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACCATGGAGGTGCAGCTGT	0.701																																						dbGAP											0													31.0	39.0	36.0					1																	228464221		2160	4250	6410	-	-	-	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6291delG	1.37:g.228464221delG	ENSP00000409493:p.Glu2097fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V2098fs	ENST00000422127.1	37	c.6291	CCDS58065.1	1																																																																																			OBSCN	-	smart_Ig_sub	ENSG00000154358		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		11	0.00	0	G	NM_052843		228464221	228464221	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	frame_shift_del	5	78.26	18	DEL	1.000	-
OBSCN	84033	genome.wustl.edu	37	1	228464225	228464226	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:228464225_228464226insG	ENST00000422127.1	+	22	6339_6340	c.6295_6296insG	c.(6295-6297)cagfs	p.Q2099fs	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.Q2099fs|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.Q2474fs|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Frame_Shift_Ins_p.Q946fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2099	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATGGAGGTGCAGCTGTCGCAT	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	Exception_encountered	1.37:g.228464225_228464226insG	ENSP00000409493:p.Gln2099fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q2099fs	ENST00000422127.1	37	c.6295_6296	CCDS58065.1	1																																																																																			OBSCN	-	smart_Ig_sub	ENSG00000154358		0.703	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		11	0.00	0	-	NM_052843		228464225	228464226	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	frame_shift_ins	3	86.36	19	INS	1.000:1.000	G
OBSCN	84033	genome.wustl.edu	37	1	228464249	228464250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:228464249_228464250insT	ENST00000422127.1	+	22	6363_6364	c.6319_6320insT	c.(6319-6321)ggcfs	p.G2107fs	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.G2107fs|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.G2482fs|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Frame_Shift_Ins_p.G954fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2107	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACGTGGATGGCAGCTGGACT	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	Exception_encountered	1.37:g.228464249_228464250insT	ENSP00000409493:p.Gly2107fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.G2107fs	ENST00000422127.1	37	c.6319_6320	CCDS58065.1	1																																																																																			OBSCN	-	smart_Ig_sub	ENSG00000154358		0.698	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		14	0.00	0	-	NM_052843		228464249	228464250	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	frame_shift_ins	6	75.00	18	INS	1.000:1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228464252	228464252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr1:228464252delA	ENST00000422127.1	+	22	6366	c.6322delA	c.(6322-6324)agcfs	p.S2108fs	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.S2108fs|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.S2483fs|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Frame_Shift_Del_p.S955fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2108	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGATGGCAGCTGGACTCG	0.701																																						dbGAP											0													24.0	32.0	29.0					1																	228464252		2164	4261	6425	-	-	-	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6322delA	1.37:g.228464252delA	ENSP00000409493:p.Ser2108fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S2108fs	ENST00000422127.1	37	c.6322	CCDS58065.1	1																																																																																			OBSCN	-	smart_Ig_sub	ENSG00000154358		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		13	0.00	0	A	NM_052843		228464252	228464252	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	frame_shift_del	6	75.00	18	DEL	0.509	-
PHLDB2	90102	genome.wustl.edu	37	3	111604184	111604184	+	Silent	SNP	A	A	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr3:111604184A>G	ENST00000431670.2	+	2	1671	c.1260A>G	c.(1258-1260)tcA>tcG	p.S420S	PHLDB2_ENST00000481953.1_Silent_p.S420S|PHLDB2_ENST00000393925.3_Silent_p.S420S|PHLDB2_ENST00000478922.1_Silent_p.S420S|PHLDB2_ENST00000393923.3_Silent_p.S447S|PHLDB2_ENST00000477695.1_Silent_p.S420S|PHLDB2_ENST00000412622.1_Silent_p.S420S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	420						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTCCATTTCAGGACGTGATG	0.517																																						dbGAP											0													73.0	77.0	76.0					3																	111604184		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1260A>G	3.37:g.111604184A>G			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S420	ENST00000431670.2	37	c.1260	CCDS46886.1	3																																																																																			PHLDB2	-	NULL	ENSG00000144824		0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	106	0.00	0	A	NM_145753		111604184	111604184	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	silent	43	50.00	43	SNP	0.434	G
PRKCG	5582	genome.wustl.edu	37	19	54401815	54401816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:54401815_54401816insG	ENST00000263431.3	+	11	1496_1497	c.1214_1215insG	c.(1213-1218)ctggggfs	p.LG405fs	PRKCG_ENST00000542049.1_Frame_Shift_Ins_p.LG292fs|PRKCG_ENST00000540413.1_Frame_Shift_Ins_p.LG405fs	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTGCTGGCGCTGGGGGGCCGGG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1220dupG	19.37:g.54401821_54401821dupG	ENSP00000263431:p.Leu405fs		B7Z8Q0	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.R408fs	ENST00000263431.3	37	c.1214_1215	CCDS12867.1	19																																																																																			PRKCG	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000126583		0.649	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	33	0.00	0	-	NM_002739		54401815	54401816	+1	no_errors	ENST00000540413	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.999:1.000	G
PTGIS	5740	genome.wustl.edu	37	20	48160880	48160881	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr20:48160880_48160881insTG	ENST00000244043.4	-	4	511_512	c.482_483insCA	c.(481-483)gagfs	p.E161fs	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	161					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GGAGACCCATCTCGTGCCAGCC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.482_483insCA	20.37:g.48160880_48160881insTG	ENSP00000244043:p.Glu161fs		Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Frame_Shift_Ins	INS	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E161fs	ENST00000244043.4	37	c.483_482	CCDS13419.1	20																																																																																			PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000124212		0.599	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2	77	0.00	0	-			48160880	48160881	-1	no_errors	ENST00000244043	ensembl	human	known	69_37n	frame_shift_ins	63	63.58	110	INS	0.496:0.591	TG
ZNF512B	57473	genome.wustl.edu	37	20	62655955	62655955	+	Intron	SNP	A	A	G			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr20:62655955A>G	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.K606R|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CACTGCCCCAAAGCAGAGGTG	0.627																																						dbGAP											0													70.0	58.0	62.0					20																	62655955		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+24102T>C	20.37:g.62655955A>G			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.K606R	ENST00000450537.1	37	c.1817	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282351	0.59867	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34072	1.38;1.38	5.64	5.64	0.86602	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.45137	1.4	0.80722	D	1	B;B	0.17852	0.007;0.024	B;B	0.20577	0.017;0.03	T	0.06320	-1.0833	10	0.33141	T	0.24	.	15.8504	0.78927	1.0:0.0:0.0:0.0	.	606;606	O94906-2;O94906	.;PRP6_HUMAN	R	606	ENSP00000266079:K606R;ENSP00000446216:K606R	ENSP00000266079:K606R	K	+	2	0	PRPF6	62126399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.936000	0.92931	2.150000	0.67090	0.402000	0.26972	AAA	PRPF6	-	smart_HAT	ENSG00000101161		0.627	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	18	0.00	0	A	NM_020713		62655955	62655955	+1	no_errors	ENST00000266079	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	1.000	G
SARM1	23098	genome.wustl.edu	37	17	26708431	26708431	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr17:26708431C>T	ENST00000457710.3	+	2	1049	c.578C>T	c.(577-579)gCg>gTg	p.A193V	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Silent_p.R247R|SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	227					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CGCCACTGCGCGCTGGCGCTG	0.726																																						dbGAP											0													7.0	8.0	8.0					17																	26708431		2072	3955	6027	-	-	-	SO:0001583	missense	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.578C>T	17.37:g.26708431C>T	ENSP00000406738:p.Ala193Val		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.A193V	ENST00000457710.3	37	c.578		17	.	.	.	.	.	.	.	.	.	.	C	36	5.864158	0.97043	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82976	0.5154	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85657	0.1286	8	0.72032	D	0.01	-14.5899	18.3363	0.90288	0.0:1.0:0.0:0.0	.	227	Q6SZW1	SARM1_HUMAN	V	225;193	.	ENSP00000003834:A193V	A	+	2	0	SARM1	23732558	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.609000	0.82925	2.323000	0.78572	0.563000	0.77884	GCG	SARM1	-	superfamily_ARM-type_fold	ENSG00000004139		0.726	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	12	0.00	0	C	NM_015077		26708431	26708431	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	missense	15	25.00	5	SNP	1.000	T
SIN3B	23309	genome.wustl.edu	37	19	16942408	16942408	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:16942408G>A	ENST00000248054.5	+	3	352	c.331G>A	c.(331-333)Gac>Aac	p.D111N	SIN3B_ENST00000596802.1_Missense_Mutation_p.D111N|SIN3B_ENST00000379803.1_Missense_Mutation_p.D111N					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATATAGAATAGACATTCCCAA	0.498																																						dbGAP											0													154.0	140.0	145.0					19																	16942408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.331G>A	19.37:g.16942408G>A	ENSP00000248054:p.Asp111Asn			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.D111N	ENST00000248054.5	37	c.331		19	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936760	0.73557	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.42900	0.96;0.96	4.85	3.8	0.43715	.	0.103066	0.64402	D	0.000004	T	0.37128	0.0992	L	0.29908	0.895	0.37859	D	0.929659	P;B;P	0.36465	0.554;0.018;0.454	B;B;B	0.41666	0.205;0.027;0.363	T	0.40534	-0.9558	10	0.48119	T	0.1	-7.2761	14.2149	0.65786	0.0:0.1504:0.8496:0.0	.	111;111;111	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	N	111	ENSP00000369131:D111N;ENSP00000248054:D111N	ENSP00000248054:D111N	D	+	1	0	SIN3B	16803408	1.000000	0.71417	0.965000	0.40720	0.940000	0.58332	9.291000	0.96070	1.021000	0.39600	0.455000	0.32223	GAC	SIN3B	-	NULL	ENSG00000127511		0.498	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	125	0.00	0	G	NM_015260		16942408	16942408	+1	no_errors	ENST00000379803	ensembl	human	known	69_37n	missense	108	14.29	18	SNP	1.000	A
SMCR8	140775	genome.wustl.edu	37	17	18226154	18226154	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr17:18226154A>C	ENST00000406438.3	+	2	3064	c.2584A>C	c.(2584-2586)Acc>Ccc	p.T862P	RP1-178F10.3_ENST00000577764.1_lincRNA	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	862						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTTCCTCTACACCTTCTGCCA	0.612																																						dbGAP											0													74.0	76.0	76.0					17																	18226154		2113	4247	6360	-	-	-	SO:0001583	missense	0			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2584A>C	17.37:g.18226154A>C	ENSP00000385025:p.Thr862Pro		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.T862P	ENST00000406438.3	37	c.2584	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152139	0.57259	.	.	ENSG00000176994	ENST00000406438	T	0.26067	1.76	5.2	2.91	0.33838	.	0.075390	0.51477	U	0.000090	T	0.35998	0.0951	L	0.59436	1.845	0.50171	D	0.999859	D	0.57899	0.981	P	0.55161	0.77	T	0.11348	-1.0591	10	0.59425	D	0.04	-11.8091	9.5432	0.39264	0.7869:0.0:0.2131:0.0	.	862	Q8TEV9	SMCR8_HUMAN	P	862	ENSP00000385025:T862P	ENSP00000385025:T862P	T	+	1	0	SMCR8	18166879	0.977000	0.34250	0.994000	0.49952	0.986000	0.74619	2.077000	0.41557	0.912000	0.36772	0.460000	0.39030	ACC	SMCR8	-	NULL	ENSG00000176994		0.612	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	67	0.00	0	A	NM_144775		18226154	18226154	+1	no_errors	ENST00000406438	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.994	C
TGM1	7051	genome.wustl.edu	37	14	24727530	24727530	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr14:24727530A>C	ENST00000206765.6	-	9	1486	c.1363T>G	c.(1363-1365)Tgg>Ggg	p.W455G	TGM1_ENST00000544573.1_Missense_Mutation_p.W13G	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	455					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ACCACCTGCCACCCATCAAAG	0.607																																						dbGAP											0													46.0	45.0	45.0					14																	24727530		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1363T>G	14.37:g.24727530A>C	ENSP00000206765:p.Trp455Gly		B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.W455G	ENST00000206765.6	37	c.1363	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489978	0.64074	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.99902	-7.66;-7.66	4.91	4.91	0.64330	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	H	0.96175	3.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96141	0.9100	10	0.87932	D	0	-15.6922	12.5436	0.56186	1.0:0.0:0.0:0.0	.	455	P22735	TGM1_HUMAN	G	455;13	ENSP00000206765:W455G;ENSP00000439446:W13G	ENSP00000206765:W455G	W	-	1	0	TGM1	23797370	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.268000	0.78473	2.074000	0.62210	0.459000	0.35465	TGG	TGM1	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000092295		0.607	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	39	0.00	0	A	NM_000359		24727530	24727530	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	1.000	C
TSGA10	80705	genome.wustl.edu	37	2	99725408	99725408	+	Missense_Mutation	SNP	C	C	T	rs567289053		TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr2:99725408C>T	ENST00000393483.3	-	7	942	c.98G>A	c.(97-99)cGt>cAt	p.R33H	TSGA10_ENST00000539964.1_Missense_Mutation_p.R33H|TSGA10_ENST00000410001.1_Missense_Mutation_p.R33H|TSGA10_ENST00000355053.4_Missense_Mutation_p.R33H|TSGA10_ENST00000542655.1_Missense_Mutation_p.R33H|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	33					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AAGTTCTTCACGATCTCTTGT	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		15792	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													91.0	91.0	91.0					2																	99725408		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.98G>A	2.37:g.99725408C>T	ENSP00000377123:p.Arg33His		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.R33H	ENST00000393483.3	37	c.98	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154095	0.57259	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	4.61	4.61	0.57282	.	0.110656	0.41097	D	0.000941	T	0.47002	0.1422	L	0.42744	1.35	0.34088	D	0.660335	P;B	0.44877	0.845;0.238	B;B	0.31290	0.127;0.046	T	0.66244	-0.5972	10	0.56958	D	0.05	-7.4876	10.6662	0.45732	0.0:0.9068:0.0:0.0932	.	33;33	B7Z925;Q9BZW7	.;TSG10_HUMAN	H	33	ENSP00000377123:R33H;ENSP00000386956:R33H;ENSP00000347161:R33H;ENSP00000444419:R33H;ENSP00000386508:R33H;ENSP00000377122:R33H;ENSP00000445623:R33H	ENSP00000347161:R33H	R	-	2	0	TSGA10	99091840	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.866000	0.48420	2.392000	0.81423	0.484000	0.47621	CGT	TSGA10	-	NULL	ENSG00000135951		0.338	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	128	0.00	0	C	NM_182911		99725408	99725408	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	missense	67	23.86	21	SNP	1.000	T
WWC3	55841	genome.wustl.edu	37	X	10106889	10106889	+	Silent	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chrX:10106889C>T	ENST00000380861.4	+	21	3388	c.2997C>T	c.(2995-2997)gaC>gaT	p.D999D	WWC3_ENST00000454666.1_Silent_p.D999D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	999					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGTTGGAGGACGCCCAGCTCC	0.701																																						dbGAP											0													26.0	23.0	24.0					X																	10106889		2202	4294	6496	-	-	-	SO:0001819	synonymous_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2997C>T	X.37:g.10106889C>T			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D999	ENST00000380861.4	37	c.2997	CCDS14136.1	X																																																																																			WWC3	-	NULL	ENSG00000047644		0.701	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	40	0.00	0	C	NM_015691		10106889	10106889	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	silent	24	33.33	12	SNP	0.921	T
ZNF676	163223	genome.wustl.edu	37	19	22363549	22363549	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:22363549G>A	ENST00000397121.2	-	3	1287	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	324					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.L324F(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTCAGTAAGGCTTGAGGAC	0.418																																						dbGAP											1	Substitution - Missense(1)	lung(1)											61.0	64.0	63.0					19																	22363549		2122	4250	6372	-	-	-	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.970C>T	19.37:g.22363549G>A	ENSP00000380310:p.Leu324Phe		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L324F	ENST00000397121.2	37	c.970	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	9.125	1.009864	0.19277	.	.	ENSG00000196109	ENST00000397121	T	0.52057	0.68	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60051	0.2239	L	0.58810	1.83	0.23563	N	0.997406	D	0.76494	0.999	D	0.81914	0.995	T	0.48198	-0.9056	9	0.62326	D	0.03	.	8.4137	0.32659	0.0:0.0:1.0:0.0	.	324	Q8N7Q3	ZN676_HUMAN	F	324	ENSP00000380310:L324F	ENSP00000380310:L324F	L	-	1	0	ZNF676	22155389	0.044000	0.20184	0.062000	0.19696	0.062000	0.15995	0.377000	0.20552	0.192000	0.20272	0.195000	0.17529	CTT	ZNF676	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.418	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	68	0.00	0	G	NM_001001411		22363549	22363549	-1	no_errors	ENST00000397121	ensembl	human	known	69_37n	missense	37	45.59	31	SNP	0.561	A
ZNF615	284370	genome.wustl.edu	37	19	52497121	52497121	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr19:52497121C>T	ENST00000602063.1	-	6	1557	c.1208G>A	c.(1207-1209)aGt>aAt	p.S403N	ZNF615_ENST00000594083.1_Missense_Mutation_p.S414N|ZNF615_ENST00000376716.5_Missense_Mutation_p.S403N|ZNF615_ENST00000598071.1_Missense_Mutation_p.S414N|ZNF615_ENST00000391795.3_Missense_Mutation_p.S408N			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCCACATTCACTACATGTATA	0.383																																						dbGAP											0													88.0	80.0	83.0					19																	52497121		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1208G>A	19.37:g.52497121C>T	ENSP00000473089:p.Ser403Asn		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	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.S408N	ENST00000602063.1	37	c.1223	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	0	-2.641432	0.00112	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07567	3.18;3.18	2.99	0.76	0.18442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.13043	0.29	0.09310	N	1	B;B;B;B	0.25351	0.124;0.004;0.004;0.124	B;B;B;B	0.24701	0.055;0.012;0.012;0.055	T	0.43556	-0.9384	9	0.02654	T	1	.	2.1111	0.03703	0.1883:0.3231:0.3678:0.1208	.	408;410;414;403	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	N	403;413;408;413	ENSP00000365906:S403N;ENSP00000375672:S408N	ENSP00000347019:S413N	S	-	2	0	ZNF615	57188933	0.000000	0.05858	0.494000	0.27515	0.177000	0.22998	-3.292000	0.00524	0.551000	0.29008	0.585000	0.79938	AGT	ZNF615	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197619		0.383	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	99	0.00	0	C	NM_198480		52497121	52497121	-1	no_errors	ENST00000391795	ensembl	human	known	69_37n	missense	54	37.50	33	SNP	0.000	T
ZP1	22917	genome.wustl.edu	37	11	60642669	60642669	+	Silent	SNP	G	G	T			TCGA-A8-A08S-01A-11W-A050-09	TCGA-A8-A08S-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9c981525-80af-4f79-b94a-be00131ab872	91135c15-292f-49d0-9eb0-ca16ac6a6a32	g.chr11:60642669G>T	ENST00000278853.5	+	11	1722	c.1722G>T	c.(1720-1722)ggG>ggT	p.G574G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	574					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTCTCCGGGGCCAGTGGGCT	0.617																																						dbGAP											0													50.0	52.0	52.0					11																	60642669		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1722G>T	11.37:g.60642669G>T				Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.G574	ENST00000278853.5	37	c.1722	CCDS31572.1	11																																																																																			ZP1	-	NULL	ENSG00000149506		0.617	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1	38	0.00	0	G	NM_207341		60642669	60642669	+1	no_errors	ENST00000278853	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	0.545	T
