#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	16255417	16255417	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr16:16255417G>A	ENST00000205557.7	-	25	3540	c.3511C>T	c.(3511-3513)Ctt>Ttt	p.L1171F		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1171	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	TTGGCCGCAAGCCACCTGCAA	0.587																																						dbGAP											0													58.0	55.0	56.0					16																	16255417		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.3511C>T	16.37:g.16255417G>A	ENSP00000205557:p.Leu1171Phe		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.L1171F	ENST00000205557.7	37	c.3511	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851521	0.51270	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90261	-2.64	4.56	4.56	0.56223	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38663	U	0.001606	D	0.96324	0.8801	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96781	0.9575	10	0.87932	D	0	.	11.2624	0.49091	0.0852:0.0:0.9148:0.0	.	1171	O95255	MRP6_HUMAN	F	1171;109	ENSP00000205557:L1171F	ENSP00000205557:L1171F	L	-	1	0	ABCC6	16162918	1.000000	0.71417	0.995000	0.50966	0.273000	0.26683	5.590000	0.67530	2.252000	0.74401	0.455000	0.32223	CTT	ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.587	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	22	0.00	0	G			16255417	16255417	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	missense	13	58.06	18	SNP	1.000	A
ARFGEF1	10565	genome.wustl.edu	37	8	68130367	68130367	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr8:68130367C>T	ENST00000262215.3	-	31	4734	c.4345G>A	c.(4345-4347)Gaa>Aaa	p.E1449K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E903K|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.E287K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1449					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.E1449K(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCATCCATTCAGCTTTCTGG	0.274																																						dbGAP											1	Substitution - Missense(1)	lung(1)											87.0	75.0	79.0					8																	68130367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4345G>A	8.37:g.68130367C>T	ENSP00000262215:p.Glu1449Lys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1449K	ENST00000262215.3	37	c.4345	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.238303	0.95240	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.66460	0.32;0.32;-0.21	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.968;0.968	D	0.86189	0.1611	10	0.51188	T	0.08	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	1449;927;903	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	K	903;1449;287	ENSP00000428429:E903K;ENSP00000262215:E1449K;ENSP00000430891:E287K	ENSP00000262215:E1449K	E	-	1	0	ARFGEF1	68292921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.724000	0.93272	0.655000	0.94253	GAA	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.274	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	27	0.00	0	C	NM_006421		68130367	68130367	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	T
ATN1	1822	genome.wustl.edu	37	12	7045891	7045892	+	In_Frame_Ins	INS	-	-	CAG	rs199920334|rs377147612|rs150855426|rs60216939	byFrequency	TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr12:7045891_7045892insCAG	ENST00000356654.4	+	5	1698_1699	c.1461_1462insCAG	c.(1462-1464)cag>CAGcag	p.488_488Q>QQ	ATN1_ENST00000396684.2_In_Frame_Ins_p.488_488Q>QQ	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	488	Poly-Gln.		Missing. {ECO:0000269|PubMed:7485154, ECO:0000269|PubMed:7842016, ECO:0000269|PubMed:8965642}.		cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.Q487_Q488insQ(1)|p.Q488delQ(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcaacagcaacagcagcagca	0.634																																						dbGAP											2	Insertion - In frame(1)|Deletion - In frame(1)	breast(2)																																								-	-	-	SO:0001652	inframe_insertion	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1504_1506dupCAG	12.37:g.7045898_7045900dupCAG	ENSP00000349076:p.Gln502dup		Q99495|Q99621|Q9UEK7	In_Frame_Ins	INS	pfam_Atrophin-like,prints_Atrophin-1	p.491in_frame_insQ	ENST00000356654.4	37	c.1461_1462	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.634	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	31	0.00	0	-	NM_001940		7045891	7045892	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	in_frame_ins	46	13.21	7	INS	0.002:0.834	CAG
CCL13	6357	genome.wustl.edu	37	17	32683553	32683554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr17:32683553_32683554insC	ENST00000225844.2	+	1	83_84	c.8_9insC	c.(7-12)gtctctfs	p.S4fs		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	4					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.V3A(1)		large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AACATGAAAGTCTCTGCAGTGC	0.515																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.9dupC	17.37:g.32683554_32683554dupC	ENSP00000225844:p.Ser4fs		O95689|Q6ICQ6	Frame_Shift_Ins	INS	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.S4fs	ENST00000225844.2	37	c.8_9	CCDS11281.1	17																																																																																			CCL13	-	NULL	ENSG00000181374		0.515	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL13	HGNC	protein_coding	OTTHUMT00000256389.1	122	0.00	0	-	NM_005408		32683553	32683554	+1	no_errors	ENST00000225844	ensembl	human	known	69_37n	frame_shift_ins	74	36.21	42	INS	0.324:0.310	C
CDH1	999	genome.wustl.edu	37	16	68842417	68842418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr16:68842417_68842418insG	ENST00000261769.5	+	4	669_670	c.478_479insG	c.(478-480)cccfs	p.P160fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.P160fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	160	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTATTCCTCCCATCAGCTGC	0.47			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	3	Unknown(2)|Deletion - In frame(1)	breast(2)|stomach(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	Exception_encountered	16.37:g.68842417_68842418insG	ENSP00000261769:p.Pro160fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P160fs	ENST00000261769.5	37	c.478_479	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.470	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	65	0.00	0	-	NM_004360		68842417	68842418	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	16	51.52	17	INS	1.000:0.999	G
DLGAP4	22839	genome.wustl.edu	37	20	35060343	35060343	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr20:35060343C>T	ENST00000373907.2	+	2	422	c.223C>T	c.(223-225)Cac>Tac	p.H75Y	DLGAP4_ENST00000373913.3_Missense_Mutation_p.H75Y|DLGAP4_ENST00000339266.5_Missense_Mutation_p.H75Y|DLGAP4_ENST00000401952.2_Missense_Mutation_p.H75Y			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	75					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCCCCGCATCCACTACAACTC	0.657																																						dbGAP											0													65.0	70.0	69.0					20																	35060343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.223C>T	20.37:g.35060343C>T	ENSP00000363014:p.His75Tyr		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.H75Y	ENST00000373907.2	37	c.223		20	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436495	0.83885	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.67	5.67	0.87782	.	0.046882	0.85682	D	0.000000	T	0.40862	0.1134	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.65233	0.933	T	0.06409	-1.0828	10	0.51188	T	0.08	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	75	Q9Y2H0-1	.	Y	75	ENSP00000363023:H75Y;ENSP00000384954:H75Y;ENSP00000363014:H75Y;ENSP00000341633:H75Y	ENSP00000341633:H75Y	H	+	1	0	DLGAP4	34493757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.677000	0.91161	0.561000	0.74099	CAC	DLGAP4	-	NULL	ENSG00000080845		0.657	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	58	0.00	0	C	NM_014902		35060343	35060343	+1	no_errors	ENST00000339266	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	1.000	T
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	25	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	47	48.35	44	INS	0.033:0.036	GCA
GIGYF2	26058	genome.wustl.edu	37	2	233655446	233655446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr2:233655446C>T	ENST00000409547.1	+	12	1062	c.751C>T	c.(751-753)Cga>Tga	p.R251*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.R82*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R273*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R245*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.R273*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R251*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R273*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	251	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACACATGGAACGACGTCGGAG	0.468																																						dbGAP											0													177.0	184.0	181.0					2																	233655446		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.751C>T	2.37:g.233655446C>T	ENSP00000386537:p.Arg251*		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R273*	ENST00000409547.1	37	c.817	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.218650	0.97385	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000424414;ENST00000445650;ENST00000436349;ENST00000452341;ENST00000421778;ENST00000455139;ENST00000427649;ENST00000410033	.	.	.	5.14	5.14	0.70334	.	0.073872	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1071	18.6065	0.91268	0.0:1.0:0.0:0.0	.	.	.	.	X	273;194;251;273;251;251;194;245;273;245;3;82;3;82;78;3;3;33	.	ENSP00000362664:R251X	R	+	1	2	GIGYF2	233363690	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.834000	0.62774	2.389000	0.81357	0.655000	0.94253	CGA	GIGYF2	-	NULL	ENSG00000204120		0.468	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	91	0.00	0	C	NM_001103146		233655446	233655446	+1	no_errors	ENST00000373566	ensembl	human	known	69_37n	nonsense	64	54.29	76	SNP	1.000	T
GOLGA8EP	390535	genome.wustl.edu	37	15	23444016	23444016	+	RNA	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr15:23444016G>A	ENST00000526079.1	+	0	1660				RN7SL106P_ENST00000488468.2_RNA|AC100757.1_ENST00000458911.1_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		GGACACGGAGGAGAACATCTG	0.617																																						dbGAP											0													21.0	28.0	25.0					15																	23444016		1489	2698	4187	-	-	-			0					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23444016G>A				RNA	SNP	-	NULL	ENST00000526079.1	37	NULL		15																																																																																			GOLGA8E	-	-	ENSG00000175676		0.617	GOLGA8EP-002	KNOWN	basic	processed_transcript	GOLGA8E	HGNC	pseudogene	OTTHUMT00000393312.1	32	0.00	0	G	NR_033350.1		23444016	23444016	+1	no_errors	ENST00000526079	ensembl	human	known	69_37n	rna	12	55.56	15	SNP	0.986	A
GPR61	83873	genome.wustl.edu	37	1	110086977	110086977	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr1:110086977G>A	ENST00000527748.1	+	2	2016	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	445						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGTCCTGCCGCCTCACCCCG	0.582																																						dbGAP											0													25.0	23.0	23.0					1																	110086977		2165	4173	6338	-	-	-	SO:0001583	missense	0			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1333G>A	1.37:g.110086977G>A	ENSP00000432456:p.Ala445Thr		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A445T	ENST00000527748.1	37	c.1333	CCDS801.1	1	.	.	.	.	.	.	.	.	.	.	G	7.353	0.623276	0.14193	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.69306	-0.39	5.89	4.03	0.46877	.	0.340717	0.24035	N	0.042151	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	B	0.20368	0.044	B	0.16289	0.015	T	0.04946	-1.0916	10	0.33141	T	0.24	-9.4379	5.7673	0.18233	0.0:0.6767:0.1781:0.1452	.	445	Q9BZJ8	GPR61_HUMAN	T	445;573	ENSP00000432456:A445T	ENSP00000286603:A573T	A	+	1	0	GPR61	109888500	0.000000	0.05858	0.923000	0.36655	0.949000	0.60115	0.513000	0.22770	1.507000	0.48752	-0.133000	0.14855	GCC	GPR61	-	NULL	ENSG00000156097		0.582	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GPR61	HGNC	protein_coding	OTTHUMT00000385575.1	17	0.00	0	G			110086977	110086977	+1	no_errors	ENST00000404129	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.617	A
GRIA1	2890	genome.wustl.edu	37	5	153143997	153143997	+	Silent	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr5:153143997C>T	ENST00000285900.5	+	12	2170	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	GRIA1_ENST00000518783.1_Silent_p.S619S|GRIA1_ENST00000518142.1_Silent_p.S529S|GRIA1_ENST00000521843.2_Silent_p.S540S|GRIA1_ENST00000448073.4_Silent_p.S619S|GRIA1_ENST00000340592.5_Silent_p.S609S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	609					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCTGCAGGTCCCTGTCTGGTC	0.582																																						dbGAP											0													111.0	89.0	97.0					5																	153143997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1827C>T	5.37:g.153143997C>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S619	ENST00000285900.5	37	c.1857	CCDS4322.1	5																																																																																			GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.582	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	73	0.00	0	C			153143997	153143997	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	silent	41	28.07	16	SNP	1.000	T
GRIA1	2890	genome.wustl.edu	37	5	153175111	153175111	+	Intron	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr5:153175111C>T	ENST00000285900.5	+	14	2728				GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000448073.4_Silent_p.Y792Y|GRIA1_ENST00000340592.5_Silent_p.Y782Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AATGGTGGTACGATAAAGGGG	0.478																																						dbGAP											0													214.0	183.0	192.0					5																	153175111		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2385+816C>T	5.37:g.153175111C>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y792	ENST00000285900.5	37	c.2376	CCDS4322.1	5																																																																																			GRIA1	-	pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt	ENSG00000155511		0.478	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	111	0.00	0	C			153175111	153175111	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	silent	71	24.47	23	SNP	1.000	T
HOXC4	3221	genome.wustl.edu	37	12	54448950	54448950	+	Silent	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr12:54448950G>A	ENST00000430889.2	+	2	802	c.756G>A	c.(754-756)ccG>ccA	p.P252P	HOXC4_ENST00000609810.1_Silent_p.P252P|HOXC4_ENST00000303406.4_Silent_p.P252P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	252					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCGCCACGCCGCCGGAGCAGC	0.627																																						dbGAP											0													16.0	18.0	17.0					12																	54448950		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.756G>A	12.37:g.54448950G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.P252	ENST00000430889.2	37	c.756	CCDS8873.1	12																																																																																			HOXC4	-	NULL	ENSG00000198353		0.627	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	HGNC	protein_coding	OTTHUMT00000358963.1	10	0.00	0	G			54448950	54448950	+1	no_errors	ENST00000303406	ensembl	human	known	69_37n	silent	4	60.00	6	SNP	1.000	A
ICAM4	3386	genome.wustl.edu	37	19	10398280	10398280	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr19:10398280G>A	ENST00000380770.3	+	2	509	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Missense_Mutation_p.V155M|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_Intron	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	155	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCTGCCACGTGACGCAGGT	0.597																																						dbGAP											0													68.0	62.0	64.0					19																	10398280		2203	4300	6503	-	-	-	SO:0001583	missense	0			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.463G>A	19.37:g.10398280G>A	ENSP00000370147:p.Val155Met		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	pfam_ICAM_N,prints_ICAM_VCAM_N	p.V155M	ENST00000380770.3	37	c.463	CCDS12232.1	19	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429071	0.83667	.	.	ENSG00000105371	ENST00000380770;ENST00000393717	T;T	0.07216	3.21;3.21	4.49	1.1	0.20463	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12817	0.0311	L	0.34521	1.04	0.26780	N	0.969627	D;D	0.67145	0.996;0.994	P;P	0.62560	0.904;0.805	T	0.17592	-1.0364	9	0.59425	D	0.04	.	4.4637	0.11678	0.2142:0.2019:0.5839:0.0	.	155;155	Q14773-2;Q14773	.;ICAM4_HUMAN	M	155	ENSP00000370147:V155M;ENSP00000377320:V155M	ENSP00000370147:V155M	V	+	1	0	ICAM4	10259280	0.580000	0.26733	0.958000	0.39756	0.696000	0.40369	0.784000	0.26816	0.030000	0.15379	0.462000	0.41574	GTG	ICAM4	-	prints_ICAM_VCAM_N	ENSG00000105371		0.597	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICAM4	HGNC	protein_coding	OTTHUMT00000451214.1	44	0.00	0	G	NM_001544		10398280	10398280	+1	no_errors	ENST00000380770	ensembl	human	known	69_37n	missense	16	50.00	16	SNP	0.886	A
KIAA1109	84162	genome.wustl.edu	37	4	123227196	123227197	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr4:123227196_123227197insA	ENST00000264501.4	+	57	10210_10211	c.9837_9838insA	c.(9838-9840)agafs	p.R3280fs	KIAA1109_ENST00000455637.1_Frame_Shift_Ins_p.R3280fs|KIAA1109_ENST00000388738.3_Frame_Shift_Ins_p.R3280fs			Q2LD37	K1109_HUMAN	KIAA1109	3280					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGCCTTTGATAGAGGTAAGAT	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9838dupA	4.37:g.123227197_123227197dupA	ENSP00000264501:p.Arg3280fs		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Ins	INS	pfam_Fragile_site-assoc_C	p.R3279fs	ENST00000264501.4	37	c.9837_9838	CCDS43267.1	4																																																																																			KIAA1109	-	NULL	ENSG00000138688		0.391	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	73	0.00	0	-	NM_020797		123227196	123227197	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	frame_shift_ins	43	37.68	26	INS	0.992:1.000	A
LDLRAD1	388633	genome.wustl.edu	37	1	54479914	54479914	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr1:54479914G>A	ENST00000371360.1	-	3	214	c.197C>T	c.(196-198)aCc>aTc	p.T66I	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	66						integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						CTGACCTGGGGTGCATGATGG	0.667																																						dbGAP											0													27.0	26.0	27.0					1																	54479914		2197	4293	6490	-	-	-	SO:0001583	missense	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.197C>T	1.37:g.54479914G>A	ENSP00000360411:p.Thr66Ile		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.T66I	ENST00000371360.1	37	c.197	CCDS30725.1	1	.	.	.	.	.	.	.	.	.	.	G	3.656	-0.070470	0.07228	.	.	ENSG00000203985	ENST00000371360	.	.	.	4.57	0.189	0.15119	.	0.296133	0.23981	N	0.042672	T	0.32852	0.0843	L	0.49640	1.575	0.09310	N	0.999999	B	0.29646	0.253	B	0.33799	0.17	T	0.19386	-1.0307	9	0.39692	T	0.17	-1.987	5.8337	0.18594	0.2622:0.1373:0.6006:0.0	.	66	Q5T700	LRAD1_HUMAN	I	66	.	ENSP00000360411:T66I	T	-	2	0	LDLRAD1	54252502	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.054000	0.14205	-0.037000	0.13646	-0.367000	0.07326	ACC	LDLRAD1	-	NULL	ENSG00000203985		0.667	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD1	HGNC	protein_coding	OTTHUMT00000023243.1	21	0.00	0	G	NM_001010978		54479914	54479914	-1	no_errors	ENST00000371360	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	0.002	A
LOXL4	84171	genome.wustl.edu	37	10	100013398	100013398	+	Missense_Mutation	SNP	G	G	T	rs144191380		TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr10:100013398G>T	ENST00000260702.3	-	11	1897	c.1747C>A	c.(1747-1749)Cgc>Agc	p.R583S	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	583	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTGGAGAAGCGCAATAGGCGG	0.592																																						dbGAP											0													106.0	91.0	96.0					10																	100013398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1747C>A	10.37:g.100013398G>T	ENSP00000260702:p.Arg583Ser		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.R583S	ENST00000260702.3	37	c.1747	CCDS7473.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.144889	0.94603	.	.	ENSG00000138131	ENST00000260702	T	0.42513	0.97	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81413	-0.0944	10	0.72032	D	0.01	.	16.9772	0.86316	0.0:0.0:1.0:0.0	.	583	Q96JB6	LOXL4_HUMAN	S	583	ENSP00000260702:R583S	ENSP00000260702:R583S	R	-	1	0	LOXL4	100003388	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.657000	0.98554	2.536000	0.85505	0.491000	0.48974	CGC	LOXL4	-	pfam_Lysyl_oxidase	ENSG00000138131		0.592	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	67	0.00	0	G	NM_032211		100013398	100013398	-1	no_errors	ENST00000260702	ensembl	human	known	69_37n	missense	55	32.10	26	SNP	1.000	T
MCOLN2	255231	genome.wustl.edu	37	1	85397158	85397158	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr1:85397158T>G	ENST00000370608.3	-	12	1496	c.1429A>C	c.(1429-1431)Atc>Ctc	p.I477L	MCOLN2_ENST00000284027.5_Missense_Mutation_p.I449L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	477					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACCAAGATGCTCTTCTGC	0.383																																						dbGAP											0													71.0	74.0	73.0					1																	85397158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1429A>C	1.37:g.85397158T>G	ENSP00000359640:p.Ile477Leu		A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.I477L	ENST00000370608.3	37	c.1429	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	T	8.261	0.811110	0.16537	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.83755	-1.76;-1.74	4.93	-9.86	0.00473	Polycystin cation channel, PKD1/PKD2 (1);	0.929130	0.09078	N	0.851723	T	0.29061	0.0722	N	0.03608	-0.345	0.20074	N	0.999939	B	0.06786	0.001	B	0.06405	0.002	T	0.29882	-0.9997	10	0.12103	T	0.63	-26.2687	8.549	0.33440	0.0724:0.0736:0.1543:0.6996	.	477	Q8IZK6	MCLN2_HUMAN	L	477;449	ENSP00000359640:I477L;ENSP00000284027:I449L	ENSP00000284027:I449L	I	-	1	0	MCOLN2	85169746	0.002000	0.14202	0.153000	0.22517	0.996000	0.88848	-0.015000	0.12634	-2.383000	0.00592	-0.248000	0.11899	ATC	MCOLN2	-	pfam_PKD1_2_channel	ENSG00000153898		0.383	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	33	0.00	0	T	NM_153259		85397158	85397158	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	0.001	G
NUP155	9631	genome.wustl.edu	37	5	37310654	37310654	+	Splice_Site	SNP	C	C	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr5:37310654C>G	ENST00000231498.3	-	23	2831	c.2628G>C	c.(2626-2628)aaG>aaC	p.K876N	NUP155_ENST00000513532.1_Intron|NUP155_ENST00000381843.2_Splice_Site_p.K817N|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	876					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTATCATACCTTAGAACAAA	0.348																																						dbGAP											0													96.0	94.0	94.0					5																	37310654		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2628+1G>C	5.37:g.37310654C>G			Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.K876N	ENST00000231498.3	37	c.2628	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607156	0.66558	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056	D;D	0.81908	-1.55;-1.54	6.16	5.3	0.74995	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.043110	0.85682	D	0.000000	D	0.86797	0.6019	M	0.79475	2.455	0.80722	D	1	B	0.26400	0.148	B	0.40565	0.333	D	0.84056	0.0372	9	.	.	.	-2.757	15.4253	0.75045	0.0:0.934:0.0:0.066	.	876	O75694	NU155_HUMAN	N	876;817;838	ENSP00000231498:K876N;ENSP00000371265:K817N	.	K	-	3	2	NUP155	37346411	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.458000	0.80787	1.623000	0.50342	0.650000	0.86243	AAG	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C	ENSG00000113569		0.348	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	36	0.00	0	C	NM_153485, NM_004298	Missense_Mutation	37310654	37310654	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	1.000	G
OR2L3	391192	genome.wustl.edu	37	1	248224884	248224884	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr1:248224884A>G	ENST00000359959.3	+	1	901	c.901A>G	c.(901-903)Aca>Gca	p.T301A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGGGCCCTGACACGAGTGAG	0.478																																						dbGAP											0													45.0	47.0	46.0					1																	248224884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.901A>G	1.37:g.248224884A>G	ENSP00000353044:p.Thr301Ala		B9EH44	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T301A	ENST00000359959.3	37	c.901	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	A	1.476	-0.558475	0.03967	.	.	ENSG00000198128	ENST00000359959	T	0.36699	1.24	1.43	1.43	0.22495	.	.	.	.	.	T	0.19046	0.0457	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.19031	-1.0318	9	0.66056	D	0.02	.	4.8323	0.13447	0.7264:0.0:0.0:0.2736	.	301	Q8NG85	OR2L3_HUMAN	A	301	ENSP00000353044:T301A	ENSP00000353044:T301A	T	+	1	0	OR2L3	246291507	0.000000	0.05858	0.076000	0.20297	0.213000	0.24496	0.251000	0.18257	0.924000	0.37069	0.374000	0.22700	ACA	OR2L3	-	NULL	ENSG00000198128		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	46	0.00	0	A	NM_001004687		248224884	248224884	+1	no_errors	ENST00000359959	ensembl	human	known	69_37n	missense	29	45.28	24	SNP	0.052	G
PARP14	54625	genome.wustl.edu	37	3	122419979	122419979	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr3:122419979C>G	ENST00000474629.2	+	6	2844	c.2578C>G	c.(2578-2580)Cta>Gta	p.L860V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	860	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGGCAGACTCCTACCGGGCAA	0.617																																						dbGAP											0													36.0	38.0	37.0					3																	122419979		2060	4184	6244	-	-	-	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2578C>G	3.37:g.122419979C>G	ENSP00000418194:p.Leu860Val		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L860V	ENST00000474629.2	37	c.2578	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	9.054	0.992797	0.18966	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.21734	1.99	6.06	2.08	0.27032	Appr-1-p processing (3);	1.890980	0.02327	N	0.073578	T	0.20536	0.0494	L	0.45422	1.42	0.09310	N	1	B;B	0.19073	0.023;0.033	B;B	0.20767	0.008;0.031	T	0.19712	-1.0297	10	0.38643	T	0.18	.	4.8603	0.13581	0.0:0.5138:0.1451:0.3411	.	860;860	Q460N5-4;Q460N5	.;PAR14_HUMAN	V	860;779	ENSP00000418194:L860V	ENSP00000381228:L779V	L	+	1	2	PARP14	123902669	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.072000	0.11486	0.088000	0.17205	0.655000	0.94253	CTA	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000173193		0.617	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	20	0.00	0	C	NM_017554		122419979	122419979	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	0.000	G
PHACTR3	116154	genome.wustl.edu	37	20	58381222	58381222	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr20:58381222G>C	ENST00000371015.1	+	8	1768	c.1301G>C	c.(1300-1302)cGg>cCg	p.R434P	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R431P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R393P|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R393P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R393P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R323P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R323P	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	434						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGGAGATCCGGCAGCAGATC	0.572																																						dbGAP											0													82.0	86.0	85.0					20																	58381222		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1301G>C	20.37:g.58381222G>C	ENSP00000360054:p.Arg434Pro		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.R434P	ENST00000371015.1	37	c.1301	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891454	0.91889	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.39406	1.29;1.24;1.08;1.33;1.33;1.33;1.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.72855	-0.4166	10	0.87932	D	0	-21.3076	17.8596	0.88777	0.0:0.0:1.0:0.0	.	323;434;431	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	P	431;434;323;393;393;393;323	ENSP00000353002:R431P;ENSP00000360054:R434P;ENSP00000379001:R323P;ENSP00000442483:R393P;ENSP00000347866:R393P;ENSP00000378998:R393P;ENSP00000354555:R323P	ENSP00000347866:R393P	R	+	2	0	PHACTR3	57814617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.460000	0.83146	0.650000	0.86243	CGG	PHACTR3	-	NULL	ENSG00000087495		0.572	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	37	0.00	0	G	NM_080672		58381222	58381222	+1	no_errors	ENST00000371015	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	C
PTPN3	5774	genome.wustl.edu	37	9	112151535	112151535	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr9:112151535G>A	ENST00000374541.2	-	22	2335	c.2231C>T	c.(2230-2232)aCg>aTg	p.T744M	PTPN3_ENST00000446349.1_Missense_Mutation_p.T568M|PTPN3_ENST00000412145.1_Missense_Mutation_p.T613M|PTPN3_ENST00000262539.3_Missense_Mutation_p.T590M|PTPN3_ENST00000394827.3_Missense_Mutation_p.T212M|PTPN3_ENST00000497739.1_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	744	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTGAGAGTCGTCAACATGAC	0.498																																						dbGAP											0													93.0	76.0	82.0					9																	112151535		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2231C>T	9.37:g.112151535G>A	ENSP00000363667:p.Thr744Met		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.T744M	ENST00000374541.2	37	c.2231	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.509809	0.96386	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72924	-0.4144	10	0.87932	D	0	.	19.5451	0.95291	0.0:0.0:1.0:0.0	.	590;699;744	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	M	744;613;568;744;212;590	ENSP00000416654:T613M;ENSP00000395384:T568M;ENSP00000363667:T744M;ENSP00000378304:T212M;ENSP00000262539:T590M	ENSP00000262539:T590M	T	-	2	0	PTPN3	111191356	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	9.869000	0.99810	2.629000	0.89072	0.655000	0.94253	ACG	PTPN3	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000070159		0.498	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	39	0.00	0	G			112151535	112151535	-1	no_errors	ENST00000374541	ensembl	human	known	69_37n	missense	24	50.00	24	SNP	1.000	A
RAB37	326624	genome.wustl.edu	37	17	72739280	72739280	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr17:72739280G>A	ENST00000392613.5	+	4	315	c.259G>A	c.(259-261)Gct>Act	p.A87T	RAB37_ENST00000392610.1_Missense_Mutation_p.A87T|RAB37_ENST00000392614.4_Missense_Mutation_p.A92T|RAB37_ENST00000402449.4_Missense_Mutation_p.A80T|RAB37_ENST00000392612.3_Missense_Mutation_p.A50T|RAB37_ENST00000528438.1_Missense_Mutation_p.A60T|RAB37_ENST00000340415.3_Missense_Mutation_p.A80T|RAB37_ENST00000392615.5_Missense_Mutation_p.A55T	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	87					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CTGGGACACCGCTGGGCAGGA	0.582																																						dbGAP											0													134.0	126.0	129.0					17																	72739280		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.259G>A	17.37:g.72739280G>A	ENSP00000376389:p.Ala87Thr		A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A92T	ENST00000392613.5	37	c.274	CCDS32722.1	17	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799334	0.90538	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95825	0.8641	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.995;0.997;0.996;0.993;0.996;0.996;0.997	D	0.96872	0.9640	10	0.87932	D	0	.	17.2219	0.86960	0.0:0.0:1.0:0.0	.	50;55;92;80;87;80;80	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	T	80;80;80;80;60;55;92;87;87;50;87	ENSP00000341354:A80T;ENSP00000383934:A80T;ENSP00000432086:A60T;ENSP00000376391:A55T;ENSP00000376390:A92T;ENSP00000376389:A87T;ENSP00000376388:A50T;ENSP00000376387:A87T	ENSP00000341354:A80T	A	+	1	0	RAB37	70250875	1.000000	0.71417	0.696000	0.30242	0.704000	0.40688	9.076000	0.94009	2.357000	0.79964	0.650000	0.86243	GCT	RAB37	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000172794		0.582	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB37	HGNC	protein_coding	OTTHUMT00000258872.2	66	0.00	0	G	NM_175738		72739280	72739280	+1	no_errors	ENST00000392614	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	0.999	A
RAD21L1	642636	genome.wustl.edu	37	20	1209137	1209137	+	Silent	SNP	T	T	C			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr20:1209137T>C	ENST00000409241.1	+	2	133	c.40T>C	c.(40-42)Ttg>Ctg	p.L14L	RAD21L1_ENST00000381882.2_Silent_p.L14L|RAD21L1_ENST00000402452.1_Silent_p.L14L	NM_001136566.2	NP_001130038.2	Q9H4I0	RD21L_HUMAN	RAD21-like 1 (S. pombe)	14					attachment of telomeric heterochromatin to nuclear envelope (GO:0070197)|chromosome segregation (GO:0007059)|double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				NS(1)|breast(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	7						ACGAGGGCCATTGGCCAAAAT	0.373																																						dbGAP											0													45.0	47.0	47.0					20																	1209137		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL031665	CCDS46568.1	20p13	2011-08-12			ENSG00000244588	ENSG00000244588			16271	protein-coding gene	gene with protein product							Standard	NM_001136566		Approved	dJ545L17.2, RAD21L	uc010gab.1	Q9H4I0	OTTHUMG00000031664	ENST00000409241.1:c.40T>C	20.37:g.1209137T>C			B2RXL0|B7ZBB1|B7ZW76|Q5W0X5	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.L14	ENST00000409241.1	37	c.40	CCDS46568.1	20																																																																																			RAD21L1	-	pfam_Rad21_Rec8_N	ENSG00000244588		0.373	RAD21L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21L1	HGNC	protein_coding	OTTHUMT00000334022.1	39	0.00	0	T			1209137	1209137	+1	no_errors	ENST00000409241	ensembl	human	known	69_37n	silent	16	51.52	17	SNP	0.998	C
RMI1	80010	genome.wustl.edu	37	9	86617623	86617623	+	Silent	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr9:86617623C>T	ENST00000325875.3	+	3	2054	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	574					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACCAAAAGTTCCTGGAAGGGT	0.363																																						dbGAP											0													118.0	112.0	114.0					9																	86617623		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1722C>T	9.37:g.86617623C>T			Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	pfam_DUF1767	p.F574	ENST00000325875.3	37	c.1722	CCDS6669.1	9																																																																																			RMI1	-	NULL	ENSG00000178966		0.363	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	82	0.00	0	C	NM_024945		86617623	86617623	+1	no_errors	ENST00000325875	ensembl	human	known	69_37n	silent	88	20.00	22	SNP	0.982	T
RYR3	6263	genome.wustl.edu	37	15	33961576	33961576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr15:33961576C>T	ENST00000389232.4	+	37	5711	c.5641C>T	c.(5641-5643)Caa>Taa	p.Q1881*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.Q1881*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1881	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTTAACTTTCAACTGGGAGA	0.493																																						dbGAP											0													98.0	97.0	98.0					15																	33961576		1900	4109	6009	-	-	-	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5641C>T	15.37:g.33961576C>T	ENSP00000373884:p.Gln1881*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Q1881*	ENST00000389232.4	37	c.5641	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	47	13.151367	0.99723	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.19	5.19	0.71726	.	0.203246	0.45361	D	0.000379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9108	0.92483	0.0:1.0:0.0:0.0	.	.	.	.	X	1881	.	ENSP00000354735:Q1881X	Q	+	1	0	RYR3	31748868	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.959000	0.70339	2.709000	0.92574	0.591000	0.81541	CAA	RYR3	-	NULL	ENSG00000198838		0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	61	0.00	0	C			33961576	33961576	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	nonsense	36	47.06	32	SNP	1.000	T
SGCA	6442	genome.wustl.edu	37	17	48248012	48248012	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr17:48248012A>G	ENST00000262018.3	+	8	1004	c.968A>G	c.(967-969)gAc>gGc	p.D323G	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Missense_Mutation_p.D199G	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	323					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGAAGAGAGACCTGGCTACC	0.587																																						dbGAP											0													41.0	36.0	38.0					17																	48248012		2192	4284	6476	-	-	-	SO:0001583	missense	0			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.968A>G	17.37:g.48248012A>G	ENSP00000262018:p.Asp323Gly		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.D323G	ENST00000262018.3	37	c.968	CCDS32679.1	17	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214581	0.58452	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000511303	D;D;D	0.97941	-4.62;-4.62;-4.62	5.48	5.48	0.80851	.	0.125085	0.52532	D	0.000070	D	0.96685	0.8918	L	0.59436	1.845	0.80722	D	1	P;P	0.45957	0.869;0.521	P;B	0.45276	0.475;0.197	D	0.96769	0.9567	10	0.66056	D	0.02	-17.7877	13.5176	0.61549	1.0:0.0:0.0:0.0	.	199;323	Q16586-2;Q16586	.;SGCA_HUMAN	G	199;323;106	ENSP00000345522:D199G;ENSP00000262018:D323G;ENSP00000426104:D106G	ENSP00000262018:D323G	D	+	2	0	SGCA	45603011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.672000	0.61597	2.074000	0.62210	0.533000	0.62120	GAC	SGCA	-	pfam_Sarcoglycan_2	ENSG00000108823		0.587	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1	35	0.00	0	A	NM_000023		48248012	48248012	+1	no_errors	ENST00000262018	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	1.000	G
SHPRH	257218	genome.wustl.edu	37	6	146240555	146240555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr6:146240555G>A	ENST00000367505.2	-	22	4345	c.4081C>T	c.(4081-4083)Cga>Tga	p.R1361*	SHPRH_ENST00000367503.3_Nonsense_Mutation_p.R1365*|SHPRH_ENST00000275233.7_Nonsense_Mutation_p.R1361*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.R1365*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1361					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACTCTTAGTCGTTCTGTAGCC	0.433																																						dbGAP											0													174.0	164.0	167.0					6																	146240555		1969	4175	6144	-	-	-	SO:0001587	stop_gained	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4081C>T	6.37:g.146240555G>A	ENSP00000356475:p.Arg1361*		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.R1365*	ENST00000367505.2	37	c.4093	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	46	12.115651	0.99637	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.49	4.62	0.57501	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3387	13.7972	0.63177	0.0:0.0:0.7221:0.2779	.	.	.	.	X	1361;1365;1365;1361	.	ENSP00000275233:R1361X	R	-	1	2	SHPRH	146282248	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.381000	0.44336	1.427000	0.47276	0.561000	0.74099	CGA	SHPRH	-	NULL	ENSG00000146414		0.433	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	57	0.00	0	G	NM_173082		146240555	146240555	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	nonsense	48	44.19	38	SNP	1.000	A
SMARCA1	6594	genome.wustl.edu	37	X	128657222	128657222	+	Silent	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chrX:128657222C>T	ENST00000371122.4	-	1	255	c.126G>A	c.(124-126)gcG>gcA	p.A42A	SMARCA1_ENST00000371121.3_Silent_p.A42A|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Silent_p.A42A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	42					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTCGGTGGCCGCGGCGGCCG	0.667													c|||	1	0.000264901	0.0008	0.0	3775	,	,		6028	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													124.0	104.0	111.0					X																	128657222		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.126G>A	X.37:g.128657222C>T			Q5JV41|Q5JV42	Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A42	ENST00000371122.4	37	c.126	CCDS14612.1	X																																																																																			SMARCA1	-	NULL	ENSG00000102038		0.667	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	61	0.00	0	C	NM_003069		128657222	128657222	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	silent	87	36.96	51	SNP	0.999	T
SRPRB	58477	genome.wustl.edu	37	3	133524816	133524816	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr3:133524816G>A	ENST00000466490.2	+	2	409	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	42					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GTCAGTAGTGGTGGCGGTTCT	0.667																																						dbGAP											0													50.0	50.0	50.0					3																	133524816		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.124G>A	3.37:g.133524816G>A	ENSP00000418401:p.Val42Met		Q6P595|Q8N2D8	Missense_Mutation	SNP	pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA	p.V42M	ENST00000466490.2	37	c.124	CCDS3081.1	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349106	0.24426	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.54071	2.2;0.59	4.91	2.01	0.26516	.	0.260464	0.22526	U	0.058906	T	0.47783	0.1464	M	0.63843	1.955	0.46356	D	0.999007	P	0.34462	0.454	B	0.33799	0.17	T	0.48340	-0.9044	10	0.72032	D	0.01	-8.8533	10.2296	0.43247	0.0797:0.5661:0.3542:0.0	.	42	Q9Y5M8	SRPRB_HUMAN	M	42	ENSP00000418401:V42M;ENSP00000417096:V42M	ENSP00000418401:V42M	V	+	1	0	SRPRB	135007506	0.998000	0.40836	0.981000	0.43875	0.107000	0.19398	0.382000	0.20635	0.319000	0.23209	-0.133000	0.14855	GTG	SRPRB	-	NULL	ENSG00000144867		0.667	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPRB	HGNC	protein_coding	OTTHUMT00000357170.2	38	0.00	0	G			133524816	133524816	+1	no_errors	ENST00000466490	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	0.838	A
SSFA2	6744	genome.wustl.edu	37	2	182765477	182765477	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr2:182765477T>G	ENST00000431877.2	+	7	737	c.558T>G	c.(556-558)aaT>aaG	p.N186K	SSFA2_ENST00000409001.1_Missense_Mutation_p.N186K|SSFA2_ENST00000428267.2_Missense_Mutation_p.N33K|SSFA2_ENST00000320370.7_Missense_Mutation_p.N186K	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	186						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTCTTTATAATCTTGGATTTG	0.299																																						dbGAP											0													70.0	73.0	72.0					2																	182765477		2203	4298	6501	-	-	-	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.558T>G	2.37:g.182765477T>G	ENSP00000388731:p.Asn186Lys		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.N186K	ENST00000431877.2	37	c.558	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977822	0.74360	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.16196	2.59;2.36;2.58;2.55	5.87	4.71	0.59529	.	0.250682	0.45126	D	0.000394	T	0.39279	0.1072	M	0.74881	2.28	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.983;0.983;0.983	T	0.19128	-1.0315	10	0.72032	D	0.01	-24.979	9.7201	0.40297	0.0:0.1503:0.0:0.8497	.	33;186;186;186	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	K	186;186;186;33	ENSP00000388731:N186K;ENSP00000314669:N186K;ENSP00000387319:N186K;ENSP00000409867:N33K	ENSP00000314669:N186K	N	+	3	2	SSFA2	182473722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.709000	0.25734	1.035000	0.39972	0.533000	0.62120	AAT	SSFA2	-	NULL	ENSG00000138434		0.299	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	86	0.00	0	T	NM_006751		182765477	182765477	+1	no_errors	ENST00000431877	ensembl	human	known	69_37n	missense	47	56.07	60	SNP	1.000	G
SVEP1	79987	genome.wustl.edu	37	9	113219551	113219551	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr9:113219551G>A	ENST00000401783.2	-	21	3994	c.3658C>T	c.(3658-3660)Cca>Tca	p.P1220S	SVEP1_ENST00000302728.8_Missense_Mutation_p.P1220S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1197S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1220	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATCCAAGTGGACAGAGACAA	0.348																																						dbGAP											0													92.0	86.0	88.0					9																	113219551		1836	4088	5924	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3658C>T	9.37:g.113219551G>A	ENSP00000384917:p.Pro1220Ser		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.P1220S	ENST00000401783.2	37	c.3658	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086269	0.20390	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;T	0.94417	-3.42;-3.42;-0.14	5.72	2.82	0.32997	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.442058	0.27193	N	0.020481	D	0.91740	0.7388	M	0.72624	2.21	0.24368	N	0.994847	B;B	0.13145	0.007;0.002	B;B	0.14578	0.005;0.011	T	0.80482	-0.1363	10	0.23891	T	0.37	.	8.8159	0.34996	0.0659:0.0:0.5493:0.3848	.	1220;1220	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	S	1220;1197;1220	ENSP00000384917:P1220S;ENSP00000363593:P1197S;ENSP00000304118:P1220S	ENSP00000304118:P1220S	P	-	1	0	SVEP1	112259372	1.000000	0.71417	0.335000	0.25508	0.867000	0.49689	3.475000	0.53136	0.408000	0.25621	-0.181000	0.13052	CCA	SVEP1	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000165124		0.348	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		74	0.00	0	G			113219551	113219551	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.705	A
TBC1D26	353149	genome.wustl.edu	37	17	15640806	15640806	+	Missense_Mutation	SNP	A	A	C	rs200208182	byFrequency	TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr17:15640806A>C	ENST00000437605.2	+	5	417	c.167A>C	c.(166-168)gAg>gCg	p.E56A	ZNF286A_ENST00000413242.2_3'UTR|ZNF286A_ENST00000593105.1_3'UTR|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.E56A|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	56							Rab GTPase activator activity (GO:0005097)	p.E56A(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		AGTGAGATGGAGCTGCCCCAC	0.647																																						dbGAP											1	Substitution - Missense(1)	skin(1)											35.0	39.0	37.0					17																	15640806		1942	4099	6041	-	-	-	SO:0001583	missense	0				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.167A>C	17.37:g.15640806A>C	ENSP00000410111:p.Glu56Ala		A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E56A	ENST00000437605.2	37	c.167	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	a	8.747	0.920269	0.17982	.	.	ENSG00000214946	ENST00000437605	T	0.44881	0.91	0.888	-1.78	0.07957	.	0.321547	0.28187	U	0.016280	T	0.40067	0.1102	M	0.81682	2.555	0.09310	N	1	P;P	0.41710	0.76;0.481	B;B	0.44163	0.443;0.347	T	0.39292	-0.9621	10	0.51188	T	0.08	.	1.5879	0.02648	0.3144:0.2682:0.0:0.4174	.	56;56	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	A	56	ENSP00000410111:E56A	ENSP00000410111:E56A	E	+	2	0	TBC1D26	15581531	0.176000	0.23096	0.000000	0.03702	0.001000	0.01503	0.354000	0.20146	-1.189000	0.02702	-0.811000	0.03165	GAG	TBC1D26	-	NULL	ENSG00000214946		0.647	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding		47	0.00	0	A	NM_178571		15640806	15640806	+1	no_errors	ENST00000437605	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.285	C
TBP	6908	genome.wustl.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																						dbGAP											0													43.0	45.0	44.0					6																	170871004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	6.37:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q60	ENST00000392092.2	37	c.180	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	17	0.00	0	G	NM_003194		170871004	170871004	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	0.991	A
TCP10	6953	genome.wustl.edu	37	6	167787875	167787876	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr6:167787875_167787876delCT	ENST00000397829.4	-	7	919_920	c.752_753delAG	c.(751-753)gagfs	p.E251fs	TCP10_ENST00000366827.2_Frame_Shift_Del_p.E251fs	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	278						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AACTGGCGAACTCGTCAGCTTG	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.752_753delAG	6.37:g.167787875_167787876delCT	ENSP00000380929:p.Glu251fs		Q5JR60|Q6P4F4	Frame_Shift_Del	DEL	NULL	p.E251fs	ENST00000397829.4	37	c.753_752	CCDS43527.1	6																																																																																			TCP10	-	NULL	ENSG00000203690		0.545	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	122	0.00	0	CT	NM_004610		167787875	167787876	-1	no_errors	ENST00000397829	ensembl	human	known	69_37n	frame_shift_del	40	59.22	61	DEL	0.000:0.000	-
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	15	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	35	46.97	31	SNP	0.994	A
TRPM6	140803	genome.wustl.edu	37	9	77354721	77354721	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr9:77354721A>G	ENST00000360774.1	-	34	5642	c.5405T>C	c.(5404-5406)aTt>aCt	p.I1802T	TRPM6_ENST00000451710.3_Missense_Mutation_p.I1806T|TRPM6_ENST00000376871.3_Missense_Mutation_p.I639T|TRPM6_ENST00000376864.4_Missense_Mutation_p.I1806T|TRPM6_ENST00000376872.3_Missense_Mutation_p.I757T|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1797T|TRPM6_ENST00000449912.2_Missense_Mutation_p.I1797T	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1802	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGACTTGACAATGAAAACTTG	0.493																																						dbGAP											0													130.0	125.0	127.0					9																	77354721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5405T>C	9.37:g.77354721A>G	ENSP00000354006:p.Ile1802Thr		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.I1806T	ENST00000360774.1	37	c.5417	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708792	0.89018	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.099893	0.64402	D	0.000001	T	0.40372	0.1114	L	0.57536	1.79	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.995;0.999;1.0;0.991;1.0	T	0.15093	-1.0449	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	349;635;753;1802;1797;1797	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	T	1802;1806;757;639;1797;1797;348;1806	ENSP00000354006:I1802T;ENSP00000407341:I1806T;ENSP00000366068:I757T;ENSP00000366067:I639T;ENSP00000396672:I1797T;ENSP00000354962:I1797T;ENSP00000366060:I1806T	ENSP00000354006:I1802T	I	-	2	0	TRPM6	76544541	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.287000	0.78681	2.285000	0.76669	0.533000	0.62120	ATT	TRPM6	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000119121		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	42	0.00	0	A	NM_017662		77354721	77354721	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	23	55.77	29	SNP	1.000	G
TTC25	83538	genome.wustl.edu	37	17	40091966	40091966	+	RNA	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr17:40091966C>T	ENST00000591658.1	+	0	429							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGTTGGCATTCAGAAAGCCCA	0.502																																						dbGAP											0													63.0	61.0	61.0					17																	40091966		1962	4170	6132	-	-	-			0			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091966C>T			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	36	5.716812	0.96830	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.79	5.79	0.91817	.	0.050069	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-50.4297	20.0263	0.97523	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000366763:Q121X	Q	+	1	0	AC091172.1	37345492	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.163000	0.50763	2.735000	0.93741	0.655000	0.94253	CAG	TTC25	-	-	ENSG00000204815		0.502	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	82	0.00	0	C	NM_031421		40091966	40091966	+1	no_errors	ENST00000377540	ensembl	human	known	69_37n	rna	37	37.29	22	SNP	1.000	T
UBE2W	55284	genome.wustl.edu	37	8	74717957	74717957	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr8:74717957C>T	ENST00000602593.1	-	5	423	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	UBE2W_ENST00000419880.3_Missense_Mutation_p.R164Q|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.R124Q|UBE2W_ENST00000517608.1_Missense_Mutation_p.R153Q|UBE2W_ENST00000453587.2_Missense_Mutation_p.R124Q|UBE2W_ENST00000602969.1_Missense_Mutation_p.R135Q			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	124					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ATCCGGTGGTCGTCTCTGAAA	0.294																																					Pancreas(14;490 592 20090 21022 23311)	dbGAP											0													68.0	59.0	62.0					8																	74717957		1795	4054	5849	-	-	-	SO:0001583	missense	0			AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.371G>A	8.37:g.74717957C>T	ENSP00000473561:p.Arg124Gln		B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R135Q	ENST00000602593.1	37	c.404		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.820087|5.820087	0.96989|0.96989	.|.	.|.	ENSG00000104343|ENSG00000104343	ENST00000523278|ENST00000453587;ENST00000517608;ENST00000419880	.|T	.|0.36878	.|1.23	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Ubiquitin-conjugating enzyme, E2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69815|0.69815	0.3153|0.3153	M|M	0.92317|0.92317	3.295|3.295	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|P;P;D	.|0.71656	.|0.836;0.803;0.974	T|T	0.73720|0.73720	-0.3894|-0.3894	5|10	.|0.41790	.|T	.|0.15	-8.6875|-8.6875	19.8893|19.8893	0.96923|0.96923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|124;135;124	.|Q96B02;Q96B02-2;C9JJH0	.|UBE2W_HUMAN;.;.	N|Q	120|124;124;135	.|ENSP00000403764:R124Q	.|ENSP00000397453:R135Q	D|R	-|-	1|2	0|0	UBE2W|UBE2W	74880511|74880511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.752000|7.752000	0.85141|0.85141	2.704000|2.704000	0.92352|0.92352	0.585000|0.585000	0.79938|0.79938	GAC|CGA	UBE2W	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000104343		0.294	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	UBE2W	HGNC	protein_coding		105	0.00	0	C	NM_001001481		74717957	74717957	-1	no_errors	ENST00000419880	ensembl	human	known	69_37n	missense	121	45.50	101	SNP	1.000	T
USP9X	8239	genome.wustl.edu	37	X	40990740	40990741	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chrX:40990740_40990741delAG	ENST00000324545.8	+	4	906_907	c.273_274delAG	c.(271-276)aaagggfs	p.G92fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.G92fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	92					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTGCCGAAAGGGGAATTAGA	0.351																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.273_274delAG	X.37:g.40990740_40990741delAG	ENSP00000316357:p.Gly92fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E93fs	ENST00000324545.8	37	c.273_274	CCDS43930.1	X																																																																																			USP9X	-	NULL	ENSG00000124486		0.351	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	139	0.00	0	AG	NM_004652		40990740	40990741	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	frame_shift_del	68	50.68	74	DEL	1.000:1.000	-
UST	10090	genome.wustl.edu	37	6	149275038	149275038	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr6:149275038G>A	ENST00000367463.4	+	4	581	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	160					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AAGTACTGCCGAACAACCCTA	0.294																																						dbGAP											0													76.0	78.0	77.0					6																	149275038		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.478G>A	6.37:g.149275038G>A	ENSP00000356433:p.Glu160Lys		B2RCX6	Missense_Mutation	SNP	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase	p.E160K	ENST00000367463.4	37	c.478	CCDS5213.1	6	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955526	0.34471	.	.	ENSG00000111962	ENST00000367463	T	0.73789	-0.78	6.16	6.16	0.99307	.	0.105148	0.64402	D	0.000003	T	0.50803	0.1637	L	0.28054	0.825	0.46096	D	0.998866	B	0.18310	0.027	B	0.20767	0.031	T	0.50964	-0.8765	10	0.13470	T	0.59	-16.905	19.6313	0.95704	0.0:0.0:1.0:0.0	.	160	Q9Y2C2	UST_HUMAN	K	160	ENSP00000356433:E160K	ENSP00000356433:E160K	E	+	1	0	UST	149316731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.080000	0.64437	2.937000	0.99478	0.650000	0.86243	GAA	UST	-	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase	ENSG00000111962		0.294	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UST	HGNC	protein_coding	OTTHUMT00000043363.1	88	0.00	0	G	NM_005715		149275038	149275038	+1	no_errors	ENST00000367463	ensembl	human	known	69_37n	missense	93	16.96	19	SNP	0.999	A
ZFC3H1	196441	genome.wustl.edu	37	12	72037937	72037937	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1FV-01A-11D-A13L-09	TCGA-A2-A1FV-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	51b7064c-d9fc-4312-ad25-b014ef81c821	f2b83096-9f51-4664-b365-747eb146a4d7	g.chr12:72037937G>T	ENST00000378743.3	-	5	1799	c.1441C>A	c.(1441-1443)Cag>Aag	p.Q481K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	481					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGTTCTTCCTGATTTGAGAGA	0.368																																						dbGAP											0													174.0	159.0	163.0					12																	72037937		1857	4101	5958	-	-	-	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1441C>A	12.37:g.72037937G>T	ENSP00000368017:p.Gln481Lys		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.Q481K	ENST00000378743.3	37	c.1441	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925078	0.92319	.	.	ENSG00000133858	ENST00000378743	T	0.37915	1.17	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	T	0.45816	0.1361	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.65010	0.931	T	0.41752	-0.9491	10	0.40728	T	0.16	.	18.3036	0.90172	0.0:0.0:1.0:0.0	.	481	O60293	ZC3H1_HUMAN	K	481	ENSP00000368017:Q481K	ENSP00000368017:Q481K	Q	-	1	0	ZFC3H1	70324204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.778000	0.91785	2.313000	0.78055	0.655000	0.94253	CAG	ZFC3H1	-	NULL	ENSG00000133858		0.368	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	210	0.00	0	G	NM_144982		72037937	72037937	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	missense	139	42.08	101	SNP	1.000	T
