#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
ABCB11	8647	genome.wustl.edu	37	2	169869945	169869945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr2:169869945G>A	ENST00000263817.6	-	5	350	c.226C>T	c.(226-228)Cag>Tag	p.Q76*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	76	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACGCCTGGCTGGGCTATTCCA	0.413																																						dbGAP											0													135.0	129.0	131.0					2																	169869945		1898	4130	6028	-	-	-	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.226C>T	2.37:g.169869945G>A	ENSP00000263817:p.Gln76*		Q53TL2|Q9UNB2	Nonsense_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	p.Q76*	ENST00000263817.6	37	c.226	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.008511	0.97195	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.41	2.57	0.30868	.	0.344278	0.35067	N	0.003463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.5339	0.33351	0.1319:0.1235:0.7446:0.0	.	.	.	.	X	76	.	ENSP00000263817:Q76X	Q	-	1	0	ABCB11	169578191	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.812000	0.38952	0.234000	0.21139	0.555000	0.69702	CAG	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000073734		0.413	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	650	0.00	0	G	NM_003742		169869945	169869945	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	nonsense	329	37.92	201	SNP	1.000	A
ABCB11	8647	genome.wustl.edu	37	2	169869945	169869945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr2:169869945G>A	ENST00000263817.6	-	5	350	c.226C>T	c.(226-228)Cag>Tag	p.Q76*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	76	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACGCCTGGCTGGGCTATTCCA	0.413																																						dbGAP											0													135.0	129.0	131.0					2																	169869945		1898	4130	6028	-	-	-	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.226C>T	2.37:g.169869945G>A	ENSP00000263817:p.Gln76*		Q53TL2|Q9UNB2	Nonsense_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	p.Q76*	ENST00000263817.6	37	c.226	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.008511	0.97195	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.41	2.57	0.30868	.	0.344278	0.35067	N	0.003463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.5339	0.33351	0.1319:0.1235:0.7446:0.0	.	.	.	.	X	76	.	ENSP00000263817:Q76X	Q	-	1	0	ABCB11	169578191	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.812000	0.38952	0.234000	0.21139	0.555000	0.69702	CAG	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000073734		0.413	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	459	0.00	0	G	NM_003742		169869945	169869945	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	nonsense	329	37.92	201	SNP	1.000	A
ABCC5	10057	genome.wustl.edu	37	3	183665211	183665211	+	Missense_Mutation	SNP	G	G	C	rs377030024		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr3:183665211G>C	ENST00000334444.6	-	23	3555	c.3315C>G	c.(3313-3315)atC>atG	p.I1105M	ABCC5_ENST00000265586.6_Missense_Mutation_p.I1062M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1105	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGGCGATGCTGATGAGGTCCA	0.557																																						dbGAP											0													53.0	64.0	60.0					3																	183665211		2054	4196	6250	-	-	-	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3315C>G	3.37:g.183665211G>C	ENSP00000333926:p.Ile1105Met		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	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	p.I1105M	ENST00000334444.6	37	c.3315	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228469	0.39399	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.91237	-2.81;-1.67	5.63	2.81	0.32909	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048383	0.85682	N	0.000000	D	0.88808	0.6537	L	0.49571	1.57	0.50813	D	0.999892	B;P	0.35821	0.075;0.523	B;P	0.44732	0.13;0.459	T	0.83283	-0.0037	10	0.36615	T	0.2	-15.2608	8.758	0.34656	0.1362:0.125:0.7388:0.0	.	1062;1105	Q86UX3;O15440	.;MRP5_HUMAN	M	1105;1062	ENSP00000333926:I1105M;ENSP00000265586:I1062M	ENSP00000265586:I1062M	I	-	3	3	ABCC5	185147905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.874000	0.63064	0.303000	0.22785	0.655000	0.94253	ATC	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000114770		0.557	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	34	0.00	0	G	NM_005688		183665211	183665211	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	missense	21	18.75	6	SNP	1.000	C
ABCC5	10057	genome.wustl.edu	37	3	183665211	183665211	+	Missense_Mutation	SNP	G	G	C	rs377030024		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr3:183665211G>C	ENST00000334444.6	-	23	3555	c.3315C>G	c.(3313-3315)atC>atG	p.I1105M	ABCC5_ENST00000265586.6_Missense_Mutation_p.I1062M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1105	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGGCGATGCTGATGAGGTCCA	0.557																																						dbGAP											0													53.0	64.0	60.0					3																	183665211		2054	4196	6250	-	-	-	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3315C>G	3.37:g.183665211G>C	ENSP00000333926:p.Ile1105Met		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	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	p.I1105M	ENST00000334444.6	37	c.3315	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228469	0.39399	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.91237	-2.81;-1.67	5.63	2.81	0.32909	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048383	0.85682	N	0.000000	D	0.88808	0.6537	L	0.49571	1.57	0.50813	D	0.999892	B;P	0.35821	0.075;0.523	B;P	0.44732	0.13;0.459	T	0.83283	-0.0037	10	0.36615	T	0.2	-15.2608	8.758	0.34656	0.1362:0.125:0.7388:0.0	.	1062;1105	Q86UX3;O15440	.;MRP5_HUMAN	M	1105;1062	ENSP00000333926:I1105M;ENSP00000265586:I1062M	ENSP00000265586:I1062M	I	-	3	3	ABCC5	185147905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.874000	0.63064	0.303000	0.22785	0.655000	0.94253	ATC	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000114770		0.557	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	30	0.00	0	G	NM_005688		183665211	183665211	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	missense	21	18.75	6	SNP	1.000	C
ADCYAP1R1	117	genome.wustl.edu	37	7	31104525	31104525	+	Silent	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr7:31104525C>T	ENST00000304166.4	+	3	419	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	ADCYAP1R1_ENST00000409363.1_Silent_p.L44L|ADCYAP1R1_ENST00000409489.1_Silent_p.L44L|ADCYAP1R1_ENST00000396211.2_Silent_p.L44L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	44					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGCCAATGAGCTGATGGGCTT	0.562																																					Ovarian(44;225 1186 2158 11092)	dbGAP											0													79.0	69.0	72.0					7																	31104525		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.130C>T	7.37:g.31104525C>T			A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.L44	ENST00000304166.4	37	c.130	CCDS5433.1	7																																																																																			ADCYAP1R1	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt	ENSG00000078549		0.562	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	25	0.00	0	C	NM_001118		31104525	31104525	+1	no_errors	ENST00000304166	ensembl	human	known	69_37n	silent	11	50.00	11	SNP	0.843	T
ADCYAP1R1	117	genome.wustl.edu	37	7	31104525	31104525	+	Silent	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr7:31104525C>T	ENST00000304166.4	+	3	419	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	ADCYAP1R1_ENST00000409363.1_Silent_p.L44L|ADCYAP1R1_ENST00000409489.1_Silent_p.L44L|ADCYAP1R1_ENST00000396211.2_Silent_p.L44L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	44					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGCCAATGAGCTGATGGGCTT	0.562																																					Ovarian(44;225 1186 2158 11092)	dbGAP											0													79.0	69.0	72.0					7																	31104525		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.130C>T	7.37:g.31104525C>T			A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.L44	ENST00000304166.4	37	c.130	CCDS5433.1	7																																																																																			ADCYAP1R1	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt	ENSG00000078549		0.562	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	21	0.00	0	C	NM_001118		31104525	31104525	+1	no_errors	ENST00000304166	ensembl	human	known	69_37n	silent	11	50.00	11	SNP	0.843	T
ARL10	285598	genome.wustl.edu	37	5	175798850	175798850	+	Silent	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr5:175798850G>A	ENST00000310389.5	+	4	783	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	229					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCTTTGAAGAGCCTGGCACCG	0.587																																						dbGAP											0													69.0	65.0	66.0					5																	175798850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.687G>A	5.37:g.175798850G>A				Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.E229	ENST00000310389.5	37	c.687	CCDS4400.1	5																																																																																			ARL10	-	smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF	ENSG00000175414		0.587	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	32	0.00	0	G	NM_173664		175798850	175798850	+1	no_errors	ENST00000310389	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	0.001	A
ARL10	285598	genome.wustl.edu	37	5	175798850	175798850	+	Silent	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr5:175798850G>A	ENST00000310389.5	+	4	783	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	229					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCTTTGAAGAGCCTGGCACCG	0.587																																						dbGAP											0													69.0	65.0	66.0					5																	175798850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.687G>A	5.37:g.175798850G>A				Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.E229	ENST00000310389.5	37	c.687	CCDS4400.1	5																																																																																			ARL10	-	smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF	ENSG00000175414		0.587	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	24	0.00	0	G	NM_173664		175798850	175798850	+1	no_errors	ENST00000310389	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	0.001	A
ARRDC4	91947	genome.wustl.edu	37	15	98512383	98512383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr15:98512383delA	ENST00000268042.6	+	5	820	c.656delA	c.(655-657)gaafs	p.E219fs	ARRDC4_ENST00000538249.1_Frame_Shift_Del_p.E132fs	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	219					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GCAGAAATAGAAAATTGTTCC	0.408																																						dbGAP											0													59.0	62.0	61.0					15																	98512383		2197	4297	6494	-	-	-	SO:0001589	frameshift_variant	0			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.656delA	15.37:g.98512383delA	ENSP00000268042:p.Glu219fs		Q6NSI9	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.N220fs	ENST00000268042.6	37	c.656	CCDS10377.1	15																																																																																			ARRDC4	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000140450		0.408	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC4	HGNC	protein_coding	OTTHUMT00000313535.1	123	0.00	0	A	NM_183376		98512383	98512383	+1	no_errors	ENST00000268042	ensembl	human	known	69_37n	frame_shift_del	55	33.33	28	DEL	1.000	-
ARRDC4	91947	genome.wustl.edu	37	15	98512383	98512383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr15:98512383delA	ENST00000268042.6	+	5	820	c.656delA	c.(655-657)gaafs	p.E219fs	ARRDC4_ENST00000538249.1_Frame_Shift_Del_p.E132fs	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	219					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GCAGAAATAGAAAATTGTTCC	0.408																																						dbGAP											0													59.0	62.0	61.0					15																	98512383		2197	4297	6494	-	-	-	SO:0001589	frameshift_variant	0			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.656delA	15.37:g.98512383delA	ENSP00000268042:p.Glu219fs		Q6NSI9	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.N220fs	ENST00000268042.6	37	c.656	CCDS10377.1	15																																																																																			ARRDC4	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000140450		0.408	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC4	HGNC	protein_coding	OTTHUMT00000313535.1	101	0.00	0	A	NM_183376		98512383	98512383	+1	no_errors	ENST00000268042	ensembl	human	known	69_37n	frame_shift_del	55	33.33	28	DEL	1.000	-
CALM1	801	genome.wustl.edu	37	14	90870228	90870228	+	Silent	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr14:90870228C>T	ENST00000356978.4	+	4	449	c.201C>T	c.(199-201)ccC>ccT	p.P67P	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000447653.3_Silent_p.P68P|CALM1_ENST00000553542.1_Silent_p.P31P|CALM1_ENST00000544280.2_Silent_p.P31P	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TTGACTTCCCCGAATTTTTGA	0.393																																						dbGAP											0													132.0	116.0	122.0					14																	90870228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.201C>T	14.37:g.90870228C>T			P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	p.P67	ENST00000356978.4	37	c.201	CCDS9892.1	14																																																																																			CALM1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	ENSG00000198668		0.393	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	135	0.00	0	C			90870228	90870228	+1	no_errors	ENST00000356978	ensembl	human	known	69_37n	silent	52	34.18	27	SNP	0.184	T
CALM1	801	genome.wustl.edu	37	14	90870228	90870228	+	Silent	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr14:90870228C>T	ENST00000356978.4	+	4	449	c.201C>T	c.(199-201)ccC>ccT	p.P67P	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000447653.3_Silent_p.P68P|CALM1_ENST00000553542.1_Silent_p.P31P|CALM1_ENST00000544280.2_Silent_p.P31P	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TTGACTTCCCCGAATTTTTGA	0.393																																						dbGAP											0													132.0	116.0	122.0					14																	90870228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.201C>T	14.37:g.90870228C>T			P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	p.P67	ENST00000356978.4	37	c.201	CCDS9892.1	14																																																																																			CALM1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	ENSG00000198668		0.393	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	117	0.85	1	C			90870228	90870228	+1	no_errors	ENST00000356978	ensembl	human	known	69_37n	silent	52	34.18	27	SNP	0.184	T
COX10	1352	genome.wustl.edu	37	17	14110164	14110165	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr17:14110164_14110165insT	ENST00000261643.3	+	7	1043_1044	c.966_967insT	c.(967-969)tttfs	p.F323fs	COX10_ENST00000537334.1_Frame_Shift_Ins_p.F106fs|COX10_ENST00000536205.1_Frame_Shift_Ins_p.F131fs	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	323					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACTCCTGGCAGTTTCCTCATTT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.969dupT	17.37:g.14110167_14110167dupT	ENSP00000261643:p.Phe323fs		B2R6U5|B4DJ50|O15334|Q969F7	Frame_Shift_Ins	INS	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.P323fs	ENST00000261643.3	37	c.966_967	CCDS11166.1	17																																																																																			COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.604	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	158	0.00	0	-	NM_001303		14110164	14110165	+1	no_errors	ENST00000261643	ensembl	human	known	69_37n	frame_shift_ins	81	19.00	19	INS	1.000:1.000	T
COX10	1352	genome.wustl.edu	37	17	14110164	14110165	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr17:14110164_14110165insT	ENST00000261643.3	+	7	1043_1044	c.966_967insT	c.(967-969)tttfs	p.F323fs	COX10_ENST00000537334.1_Frame_Shift_Ins_p.F106fs|COX10_ENST00000536205.1_Frame_Shift_Ins_p.F131fs	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	323					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACTCCTGGCAGTTTCCTCATTT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.969dupT	17.37:g.14110167_14110167dupT	ENSP00000261643:p.Phe323fs		B2R6U5|B4DJ50|O15334|Q969F7	Frame_Shift_Ins	INS	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.P323fs	ENST00000261643.3	37	c.966_967	CCDS11166.1	17																																																																																			COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.604	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	146	0.00	0	-	NM_001303		14110164	14110165	+1	no_errors	ENST00000261643	ensembl	human	known	69_37n	frame_shift_ins	81	19.00	19	INS	1.000:1.000	T
CD300A	11314	genome.wustl.edu	37	17	72469816	72469816	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr17:72469816T>C	ENST00000360141.3	+	2	470	c.182T>C	c.(181-183)aTt>aCt	p.I61T	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	61	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGTGACAAGATTGTGGAGACC	0.522																																						dbGAP											0													135.0	115.0	122.0					17																	72469816		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.182T>C	17.37:g.72469816T>C	ENSP00000353259:p.Ile61Thr		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.I61T	ENST00000360141.3	37	c.182	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996013	0.35226	.	.	ENSG00000167851	ENST00000360141	T	0.04970	3.52	4.06	0.472	0.16758	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.802027	0.10340	N	0.686432	T	0.17109	0.0411	M	0.62723	1.935	0.09310	N	0.999995	D	0.69078	0.997	D	0.68039	0.955	T	0.12656	-1.0539	10	0.66056	D	0.02	.	6.5589	0.22476	0.0:0.3272:0.0:0.6728	.	61	Q9UGN4	CLM8_HUMAN	T	61	ENSP00000353259:I61T	ENSP00000353259:I61T	I	+	2	0	CD300A	69981411	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	0.141000	0.16076	-0.062000	0.13088	0.254000	0.18369	ATT	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000167851		0.522	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	165	0.00	0	T	NM_007261		72469816	72469816	+1	no_errors	ENST00000360141	ensembl	human	known	69_37n	missense	103	36.02	58	SNP	0.018	C
CD300A	11314	genome.wustl.edu	37	17	72469816	72469816	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr17:72469816T>C	ENST00000360141.3	+	2	470	c.182T>C	c.(181-183)aTt>aCt	p.I61T	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	61	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGTGACAAGATTGTGGAGACC	0.522																																						dbGAP											0													135.0	115.0	122.0					17																	72469816		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.182T>C	17.37:g.72469816T>C	ENSP00000353259:p.Ile61Thr		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.I61T	ENST00000360141.3	37	c.182	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996013	0.35226	.	.	ENSG00000167851	ENST00000360141	T	0.04970	3.52	4.06	0.472	0.16758	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.802027	0.10340	N	0.686432	T	0.17109	0.0411	M	0.62723	1.935	0.09310	N	0.999995	D	0.69078	0.997	D	0.68039	0.955	T	0.12656	-1.0539	10	0.66056	D	0.02	.	6.5589	0.22476	0.0:0.3272:0.0:0.6728	.	61	Q9UGN4	CLM8_HUMAN	T	61	ENSP00000353259:I61T	ENSP00000353259:I61T	I	+	2	0	CD300A	69981411	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	0.141000	0.16076	-0.062000	0.13088	0.254000	0.18369	ATT	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000167851		0.522	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	151	0.00	0	T	NM_007261		72469816	72469816	+1	no_errors	ENST00000360141	ensembl	human	known	69_37n	missense	103	36.02	58	SNP	0.018	C
CSMD1	64478	genome.wustl.edu	37	8	2975975	2975975	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr8:2975975T>C	ENST00000520002.1	-	43	6934	c.6379A>G	c.(6379-6381)Act>Gct	p.T2127A	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2127A|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2127A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2126A|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2127A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2126A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2127	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTGACAAGTGAGGACAGGA	0.443																																						dbGAP											0													131.0	130.0	130.0					8																	2975975		2017	4181	6198	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6379A>G	8.37:g.2975975T>C	ENSP00000430733:p.Thr2127Ala		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.T2127A	ENST00000520002.1	37	c.6379		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.213566|3.213566	0.58452|0.58452	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83501|0.83501	0.5268|0.5268	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.992;0.998;0.998	.|D;D;D	.|0.91635	.|0.987;0.999;0.995	D|D	0.86787|0.86787	0.1983|0.1983	5|10	.|0.72032	.|D	.|0.01	.|.	14.7337|14.7337	0.69402|0.69402	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2127;2127;2126	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	R|A	1606|2127;2127;1988;2126;2126	.|ENSP00000383047:T2127A;ENSP00000430733:T2127A;ENSP00000441462:T2126A;ENSP00000446243:T2126A	.|ENSP00000320445:T1988A	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2963382|2963382	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.102000|0.102000	0.19082|0.19082	7.785000|7.785000	0.85724|0.85724	1.927000|1.927000	0.55829|0.55829	0.460000|0.460000	0.39030|0.39030	CAC|ACT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	122	0.00	0	T	NM_033225		2975975	2975975	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	35	46.97	31	SNP	1.000	C
CSMD1	64478	genome.wustl.edu	37	8	2975975	2975975	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr8:2975975T>C	ENST00000520002.1	-	43	6934	c.6379A>G	c.(6379-6381)Act>Gct	p.T2127A	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2127A|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2127A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2126A|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2127A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2126A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2127	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTGACAAGTGAGGACAGGA	0.443																																						dbGAP											0													131.0	130.0	130.0					8																	2975975		2017	4181	6198	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6379A>G	8.37:g.2975975T>C	ENSP00000430733:p.Thr2127Ala		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.T2127A	ENST00000520002.1	37	c.6379		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.213566|3.213566	0.58452|0.58452	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83501|0.83501	0.5268|0.5268	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.992;0.998;0.998	.|D;D;D	.|0.91635	.|0.987;0.999;0.995	D|D	0.86787|0.86787	0.1983|0.1983	5|10	.|0.72032	.|D	.|0.01	.|.	14.7337|14.7337	0.69402|0.69402	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2127;2127;2126	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	R|A	1606|2127;2127;1988;2126;2126	.|ENSP00000383047:T2127A;ENSP00000430733:T2127A;ENSP00000441462:T2126A;ENSP00000446243:T2126A	.|ENSP00000320445:T1988A	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2963382|2963382	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.102000|0.102000	0.19082|0.19082	7.785000|7.785000	0.85724|0.85724	1.927000|1.927000	0.55829|0.55829	0.460000|0.460000	0.39030|0.39030	CAC|ACT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	88	0.00	0	T	NM_033225		2975975	2975975	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	35	46.97	31	SNP	1.000	C
EFCAB13	124989	genome.wustl.edu	37	17	45405748	45405748	+	Splice_Site	SNP	A	A	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr17:45405748A>T	ENST00000331493.2	+	4	440	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Splice_Site_p.Q10L|EFCAB13_ENST00000520802.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	10						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTATTCTGCCAGGTATTTATT	0.294																																						dbGAP											0													80.0	83.0	82.0					17																	45405748		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.30+1A>T	17.37:g.45405748A>T			G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.Q10L	ENST00000331493.2	37	c.29	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	A	13.52	2.263144	0.39995	.	.	ENSG00000178852	ENST00000523285;ENST00000331493;ENST00000519772;ENST00000517484;ENST00000344176	T;T	0.69435	0.11;-0.4	3.84	3.84	0.44239	.	0.267871	0.19904	N	0.103446	T	0.63838	0.2545	N	0.24115	0.695	0.25030	N	0.991278	D;D;D	0.58268	0.982;0.969;0.982	P;P;P	0.57425	0.82;0.634;0.82	T	0.56044	-0.8044	10	0.87932	D	0	.	9.323	0.37975	1.0:0.0:0.0:0.0	.	10;10;10	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	L	10	ENSP00000332111:Q10L;ENSP00000430048:Q10L	ENSP00000332111:Q10L	Q	+	2	0	C17orf57	42760747	0.994000	0.37717	0.888000	0.34837	0.796000	0.44982	3.252000	0.51461	1.959000	0.56917	0.533000	0.62120	CAG	EFCAB13	-	NULL	ENSG00000178852		0.294	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	304	0.00	0	A	NM_152347	Missense_Mutation	45405748	45405748	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	missense	142	38.10	88	SNP	0.963	T
EFCAB13	124989	genome.wustl.edu	37	17	45405748	45405748	+	Splice_Site	SNP	A	A	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr17:45405748A>T	ENST00000331493.2	+	4	440	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Splice_Site_p.Q10L|EFCAB13_ENST00000520802.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	10						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTATTCTGCCAGGTATTTATT	0.294																																						dbGAP											0													80.0	83.0	82.0					17																	45405748		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.30+1A>T	17.37:g.45405748A>T			G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.Q10L	ENST00000331493.2	37	c.29	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	A	13.52	2.263144	0.39995	.	.	ENSG00000178852	ENST00000523285;ENST00000331493;ENST00000519772;ENST00000517484;ENST00000344176	T;T	0.69435	0.11;-0.4	3.84	3.84	0.44239	.	0.267871	0.19904	N	0.103446	T	0.63838	0.2545	N	0.24115	0.695	0.25030	N	0.991278	D;D;D	0.58268	0.982;0.969;0.982	P;P;P	0.57425	0.82;0.634;0.82	T	0.56044	-0.8044	10	0.87932	D	0	.	9.323	0.37975	1.0:0.0:0.0:0.0	.	10;10;10	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	L	10	ENSP00000332111:Q10L;ENSP00000430048:Q10L	ENSP00000332111:Q10L	Q	+	2	0	C17orf57	42760747	0.994000	0.37717	0.888000	0.34837	0.796000	0.44982	3.252000	0.51461	1.959000	0.56917	0.533000	0.62120	CAG	EFCAB13	-	NULL	ENSG00000178852		0.294	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	381	0.00	0	A	NM_152347	Missense_Mutation	45405748	45405748	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	missense	142	38.10	88	SNP	0.963	T
FOLH1	2346	genome.wustl.edu	37	11	49175784	49175784	+	Silent	SNP	T	T	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr11:49175784T>C	ENST00000256999.2	-	16	2144	c.1884A>G	c.(1882-1884)tcA>tcG	p.S628S	FOLH1_ENST00000343844.4_Silent_p.S320S|FOLH1_ENST00000356696.3_Silent_p.S628S|FOLH1_ENST00000533034.1_Silent_p.S613S|FOLH1_ENST00000340334.7_Silent_p.S613S	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	628					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACATACCAAATGATACACTGT	0.313																																						dbGAP											0													128.0	119.0	122.0					11																	49175784		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1884A>G	11.37:g.49175784T>C			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.S628	ENST00000256999.2	37	c.1884	CCDS7946.1	11																																																																																			FOLH1	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000086205		0.313	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	258	0.00	0	T	NM_004476		49175784	49175784	-1	no_errors	ENST00000256999	ensembl	human	known	69_37n	silent	72	59.32	105	SNP	1.000	C
FOLH1	2346	genome.wustl.edu	37	11	49175784	49175784	+	Silent	SNP	T	T	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr11:49175784T>C	ENST00000256999.2	-	16	2144	c.1884A>G	c.(1882-1884)tcA>tcG	p.S628S	FOLH1_ENST00000343844.4_Silent_p.S320S|FOLH1_ENST00000356696.3_Silent_p.S628S|FOLH1_ENST00000533034.1_Silent_p.S613S|FOLH1_ENST00000340334.7_Silent_p.S613S	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	628					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACATACCAAATGATACACTGT	0.313																																						dbGAP											0													128.0	119.0	122.0					11																	49175784		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1884A>G	11.37:g.49175784T>C			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.S628	ENST00000256999.2	37	c.1884	CCDS7946.1	11																																																																																			FOLH1	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000086205		0.313	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	225	0.00	0	T	NM_004476		49175784	49175784	-1	no_errors	ENST00000256999	ensembl	human	known	69_37n	silent	72	59.32	105	SNP	1.000	C
FRMD4A	55691	genome.wustl.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.S1006fs	ENST00000357447.2	37	c.3015_3014	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	52	0.00	0	-	NM_018027		13696451	13696452	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.992:1.000	G
GSK3A	2931	genome.wustl.edu	37	19	42738787	42738787	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr19:42738787G>A	ENST00000222330.3	-	5	837	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GSK3A_ENST00000398249.4_Missense_Mutation_p.S155F|AC006486.9_ENST00000594664.1_Missense_Mutation_p.S150F	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CACGCCCTGGGAGTGGATGTA	0.602																																						dbGAP											0													69.0	58.0	62.0					19																	42738787		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.710C>T	19.37:g.42738787G>A	ENSP00000222330:p.Ser237Phe		O14959	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S237F	ENST00000222330.3	37	c.710	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277308	0.80580	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.51574	0.7;0.7	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.76071	0.987;0.959	T	0.83027	-0.0164	10	0.87932	D	0	-10.6933	17.4117	0.87487	0.0:0.0:1.0:0.0	.	237;155	P49840;A8MT37	GSK3A_HUMAN;.	F	237;155;182	ENSP00000222330:S237F;ENSP00000381301:S155F	ENSP00000222330:S237F	S	-	2	0	GSK3A	47430627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.470000	0.83445	0.591000	0.81541	TCC	GSK3A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105723		0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	48	0.00	0	G			42738787	42738787	-1	no_errors	ENST00000222330	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	A
GSK3A	2931	genome.wustl.edu	37	19	42738787	42738787	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr19:42738787G>A	ENST00000222330.3	-	5	837	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GSK3A_ENST00000398249.4_Missense_Mutation_p.S155F|AC006486.9_ENST00000594664.1_Missense_Mutation_p.S150F	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CACGCCCTGGGAGTGGATGTA	0.602																																						dbGAP											0													69.0	58.0	62.0					19																	42738787		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.710C>T	19.37:g.42738787G>A	ENSP00000222330:p.Ser237Phe		O14959	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S237F	ENST00000222330.3	37	c.710	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277308	0.80580	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.51574	0.7;0.7	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.76071	0.987;0.959	T	0.83027	-0.0164	10	0.87932	D	0	-10.6933	17.4117	0.87487	0.0:0.0:1.0:0.0	.	237;155	P49840;A8MT37	GSK3A_HUMAN;.	F	237;155;182	ENSP00000222330:S237F;ENSP00000381301:S155F	ENSP00000222330:S237F	S	-	2	0	GSK3A	47430627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.470000	0.83445	0.591000	0.81541	TCC	GSK3A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105723		0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	44	0.00	0	G			42738787	42738787	-1	no_errors	ENST00000222330	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	A
HEPH	9843	genome.wustl.edu	37	X	65418840	65418840	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chrX:65418840G>A	ENST00000343002.2	+	10	2498	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	HEPH_ENST00000374727.3_Missense_Mutation_p.E615K|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000519389.1_Missense_Mutation_p.E666K|HEPH_ENST00000441993.2_Missense_Mutation_p.E615K|HEPH_ENST00000336279.5_Missense_Mutation_p.E345K			Q9BQS7	HEPH_HUMAN	hephaestin	612	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAGGATATTGAGGGCTTCCA	0.448																																						dbGAP											0													155.0	138.0	144.0					X																	65418840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1834G>A	X.37:g.65418840G>A	ENSP00000343939:p.Glu612Lys		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.E666K	ENST00000343002.2	37	c.1996		X	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558850	0.13436	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.77	-1.26	0.09376	Cupredoxin (2);	0.776424	0.12202	N	0.490192	D	0.97340	0.9130	N	0.12471	0.22	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.001	D	0.99940	1.1395	10	0.09843	T	0.71	.	5.5414	0.17039	0.2421:0.198:0.5599:0.0	.	666;612	E9PHN8;Q9BQS7	.;HEPH_HUMAN	K	666;615;345;615;612;569	ENSP00000430620:E666K;ENSP00000363859:E615K;ENSP00000337418:E345K;ENSP00000411687:E615K;ENSP00000343939:E612K;ENSP00000398078:E569K	ENSP00000337418:E345K	E	+	1	0	HEPH	65335565	0.517000	0.26226	0.063000	0.19743	0.124000	0.20399	2.206000	0.42779	0.095000	0.17434	0.415000	0.27848	GAG	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	314	0.00	0	G	NM_138737		65418840	65418840	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	240	13.67	38	SNP	0.070	A
HEPH	9843	genome.wustl.edu	37	X	65418840	65418840	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chrX:65418840G>A	ENST00000343002.2	+	10	2498	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	HEPH_ENST00000374727.3_Missense_Mutation_p.E615K|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000519389.1_Missense_Mutation_p.E666K|HEPH_ENST00000441993.2_Missense_Mutation_p.E615K|HEPH_ENST00000336279.5_Missense_Mutation_p.E345K			Q9BQS7	HEPH_HUMAN	hephaestin	612	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAGGATATTGAGGGCTTCCA	0.448																																						dbGAP											0													155.0	138.0	144.0					X																	65418840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1834G>A	X.37:g.65418840G>A	ENSP00000343939:p.Glu612Lys		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.E666K	ENST00000343002.2	37	c.1996		X	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558850	0.13436	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.77	-1.26	0.09376	Cupredoxin (2);	0.776424	0.12202	N	0.490192	D	0.97340	0.9130	N	0.12471	0.22	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.001	D	0.99940	1.1395	10	0.09843	T	0.71	.	5.5414	0.17039	0.2421:0.198:0.5599:0.0	.	666;612	E9PHN8;Q9BQS7	.;HEPH_HUMAN	K	666;615;345;615;612;569	ENSP00000430620:E666K;ENSP00000363859:E615K;ENSP00000337418:E345K;ENSP00000411687:E615K;ENSP00000343939:E612K;ENSP00000398078:E569K	ENSP00000337418:E345K	E	+	1	0	HEPH	65335565	0.517000	0.26226	0.063000	0.19743	0.124000	0.20399	2.206000	0.42779	0.095000	0.17434	0.415000	0.27848	GAG	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	243	0.00	0	G	NM_138737		65418840	65418840	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	240	13.67	38	SNP	0.070	A
HIST1H2BC	8347	genome.wustl.edu	37	6	26123793	26123793	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr6:26123793C>T	ENST00000314332.5	-	1	345	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E114K|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TTGGTGCCCTCCGACACGGCG	0.582																																						dbGAP											1	Substitution - Missense(1)	lung(1)											81.0	83.0	82.0					6																	26123793		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.340G>A	6.37:g.26123793C>T	ENSP00000321744:p.Glu114Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114K	ENST00000314332.5	37	c.340	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	27.7	4.851265	0.91355	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.48201	0.82;0.82	5.61	5.61	0.85477	Histone-fold (2);	0.000000	0.40144	U	0.001170	T	0.32255	0.0823	.	.	.	0.45194	D	0.998206	B	0.24675	0.109	B	0.22753	0.041	T	0.10405	-1.0631	9	0.52906	T	0.07	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	114	P62807	H2B1C_HUMAN	K	114	ENSP00000321744:E114K;ENSP00000380180:E114K	ENSP00000321744:E114K	E	-	1	0	HIST1H2BC	26231772	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.979000	0.70508	2.799000	0.96334	0.650000	0.86243	GAG	HIST1H2BC	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000180596		0.582	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	265	0.00	0	C	NM_003526		26123793	26123793	-1	no_errors	ENST00000314332	ensembl	human	known	69_37n	missense	139	15.76	26	SNP	1.000	T
HIST1H2BC	8347	genome.wustl.edu	37	6	26123793	26123793	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr6:26123793C>T	ENST00000314332.5	-	1	345	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E114K|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TTGGTGCCCTCCGACACGGCG	0.582																																						dbGAP											1	Substitution - Missense(1)	lung(1)											81.0	83.0	82.0					6																	26123793		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.340G>A	6.37:g.26123793C>T	ENSP00000321744:p.Glu114Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114K	ENST00000314332.5	37	c.340	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	27.7	4.851265	0.91355	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.48201	0.82;0.82	5.61	5.61	0.85477	Histone-fold (2);	0.000000	0.40144	U	0.001170	T	0.32255	0.0823	.	.	.	0.45194	D	0.998206	B	0.24675	0.109	B	0.22753	0.041	T	0.10405	-1.0631	9	0.52906	T	0.07	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	114	P62807	H2B1C_HUMAN	K	114	ENSP00000321744:E114K;ENSP00000380180:E114K	ENSP00000321744:E114K	E	-	1	0	HIST1H2BC	26231772	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.979000	0.70508	2.799000	0.96334	0.650000	0.86243	GAG	HIST1H2BC	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000180596		0.582	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	204	0.00	0	C	NM_003526		26123793	26123793	-1	no_errors	ENST00000314332	ensembl	human	known	69_37n	missense	139	15.76	26	SNP	1.000	T
IGDCC4	57722	genome.wustl.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccacafs	p.T872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2614dupC	15.37:g.65681246_65681246dupG	ENSP00000319623:p.Thr872fs		Q9HCE4	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T871fs	ENST00000352385.2	37	c.2614_2613	CCDS10206.1	15																																																																																			IGDCC4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000103742		0.663	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	25	0.00	0	-	NM_020962		65681239	65681240	-1	no_errors	ENST00000352385	ensembl	human	novel	69_37n	frame_shift_ins	16	11.11	2	INS	0.007:0.001	G
INTS7	25896	genome.wustl.edu	37	1	212148582	212148582	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr1:212148582C>T	ENST00000366994.3	-	13	1845	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	INTS7_ENST00000440600.2_Missense_Mutation_p.E532K|INTS7_ENST00000366992.3_Missense_Mutation_p.E581K|INTS7_ENST00000366993.3_Missense_Mutation_p.E581K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	581					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTATAATTTTCCTCTTGCAAC	0.388																																						dbGAP											0													83.0	84.0	84.0					1																	212148582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1741G>A	1.37:g.212148582C>T	ENSP00000355961:p.Glu581Lys		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E581K	ENST00000366994.3	37	c.1741	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705803	0.48412	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.66638	0.85;0.87;0.91;-0.22	6.06	5.14	0.70334	Armadillo-type fold (1);	0.186784	0.56097	D	0.000022	T	0.55016	0.1894	L	0.29908	0.895	0.38011	D	0.934546	B;B;B;B	0.15473	0.013;0.013;0.013;0.013	B;B;B;B	0.18561	0.022;0.022;0.022;0.022	T	0.53816	-0.8385	10	0.12103	T	0.63	-9.8203	17.3667	0.87366	0.0:0.8751:0.1249:0.0	.	532;581;581;581	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	K	581;581;581;532	ENSP00000355961:E581K;ENSP00000355960:E581K;ENSP00000355959:E581K;ENSP00000388908:E532K	ENSP00000355959:E581K	E	-	1	0	INTS7	210215205	1.000000	0.71417	0.959000	0.39883	0.992000	0.81027	7.538000	0.82048	1.553000	0.49476	0.655000	0.94253	GAA	INTS7	-	superfamily_ARM-type_fold	ENSG00000143493		0.388	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	173	0.00	0	C	NM_015434		212148582	212148582	-1	no_errors	ENST00000366994	ensembl	human	known	69_37n	missense	223	21.40	61	SNP	1.000	T
KIAA1211	57482	genome.wustl.edu	37	4	57180592	57180592	+	Frame_Shift_Del	DEL	T	T	-	rs386674634		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr4:57180592delT	ENST00000504228.1	+	6	1029	c.924delT	c.(922-924)cgtfs	p.R308fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.R308fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.R301fs			Q6ZU35	K1211_HUMAN	KIAA1211	308	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAGGGAGCGTGAGGAGCGCG	0.736																																						dbGAP											0													5.0	7.0	6.0					4																	57180592		1903	3760	5663	-	-	-	SO:0001589	frameshift_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.924delT	4.37:g.57180592delT	ENSP00000423366:p.Arg308fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	NULL	p.E309fs	ENST00000504228.1	37	c.924	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.736	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	11	0.00	0	T	NM_020722		57180592	57180592	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.000	-
NKIRAS1	28512	genome.wustl.edu	37	3	23934723	23934723	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr3:23934723C>G	ENST00000443659.2	-	4	1219	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E148Q			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	148					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ACAGTCACCTCCCACAGTCTT	0.438																																						dbGAP											0													208.0	170.0	183.0					3																	23934723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.442G>C	3.37:g.23934723C>G	ENSP00000393785:p.Glu148Gln		Q96K18	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E148Q	ENST00000443659.2	37	c.442	CCDS33717.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847055	0.91277	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96768	0.9566	10	0.87932	D	0	-8.8316	18.167	0.89731	0.0:1.0:0.0:0.0	.	148;148	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	Q	148	ENSP00000373411:E148Q;ENSP00000393785:E148Q;ENSP00000392307:E148Q;ENSP00000400385:E148Q;ENSP00000406543:E148Q;ENSP00000396063:E148Q;ENSP00000415225:E148Q;ENSP00000394214:E148Q	ENSP00000373411:E148Q	E	-	1	0	NKIRAS1	23909727	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.647000	0.83462	2.522000	0.85027	0.591000	0.81541	GAG	NKIRAS1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000197885		0.438	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NKIRAS1	HGNC	protein_coding	OTTHUMT00000340876.2	421	0.00	0	C	NM_020345		23934723	23934723	-1	no_errors	ENST00000388759	ensembl	human	known	69_37n	missense	249	33.24	124	SNP	1.000	G
NKIRAS1	28512	genome.wustl.edu	37	3	23934723	23934723	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr3:23934723C>G	ENST00000443659.2	-	4	1219	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E148Q|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E148Q			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	148					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ACAGTCACCTCCCACAGTCTT	0.438																																						dbGAP											0													208.0	170.0	183.0					3																	23934723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.442G>C	3.37:g.23934723C>G	ENSP00000393785:p.Glu148Gln		Q96K18	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E148Q	ENST00000443659.2	37	c.442	CCDS33717.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847055	0.91277	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96768	0.9566	10	0.87932	D	0	-8.8316	18.167	0.89731	0.0:1.0:0.0:0.0	.	148;148	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	Q	148	ENSP00000373411:E148Q;ENSP00000393785:E148Q;ENSP00000392307:E148Q;ENSP00000400385:E148Q;ENSP00000406543:E148Q;ENSP00000396063:E148Q;ENSP00000415225:E148Q;ENSP00000394214:E148Q	ENSP00000373411:E148Q	E	-	1	0	NKIRAS1	23909727	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.647000	0.83462	2.522000	0.85027	0.591000	0.81541	GAG	NKIRAS1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000197885		0.438	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NKIRAS1	HGNC	protein_coding	OTTHUMT00000340876.2	280	0.00	0	C	NM_020345		23934723	23934723	-1	no_errors	ENST00000388759	ensembl	human	known	69_37n	missense	249	33.24	124	SNP	1.000	G
NLRP1	22861	genome.wustl.edu	37	17	5462379	5462379	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr17:5462379G>A	ENST00000572272.1	-	4	1636	c.1637C>T	c.(1636-1638)aCc>aTc	p.T546I	NLRP1_ENST00000269280.4_Missense_Mutation_p.T546I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.T546I|NLRP1_ENST00000354411.3_Missense_Mutation_p.T546I|NLRP1_ENST00000345221.3_Missense_Mutation_p.T546I|NLRP1_ENST00000577119.1_Missense_Mutation_p.T546I			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	546	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTTGTGGTGGTCTTGGAAGT	0.582																																						dbGAP											0													124.0	102.0	110.0					17																	5462379		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1637C>T	17.37:g.5462379G>A	ENSP00000460475:p.Thr546Ile		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.T546I	ENST00000572272.1	37	c.1637	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604190	0.66445	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.77358	-1.09;-1.09;-1.06;-1.04;-1.06	4.44	4.44	0.53790	NACHT nucleoside triphosphatase (1);	0.000000	0.41712	D	0.000839	D	0.90150	0.6922	M	0.94021	3.485	0.31233	N	0.696108	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.992;0.997;0.992	D	0.90150	0.4220	10	0.87932	D	0	.	12.8377	0.57782	0.0:0.0:1.0:0.0	.	546;546;546;546;546	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	I	546	ENSP00000442029:T546I;ENSP00000262467:T546I;ENSP00000269280:T546I;ENSP00000346390:T546I;ENSP00000324366:T546I	ENSP00000262467:T546I	T	-	2	0	NLRP1	5403103	0.998000	0.40836	0.559000	0.28332	0.015000	0.08874	3.402000	0.52608	2.483000	0.83821	0.650000	0.86243	ACC	NLRP1	-	pfscan_NACHT_NTPase	ENSG00000091592		0.582	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	188	0.00	0	G	NM_033004		5462379	5462379	-1	no_errors	ENST00000572272	ensembl	human	known	69_37n	missense	124	30.34	54	SNP	0.814	A
NLRP1	22861	genome.wustl.edu	37	17	5462379	5462379	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr17:5462379G>A	ENST00000572272.1	-	4	1636	c.1637C>T	c.(1636-1638)aCc>aTc	p.T546I	NLRP1_ENST00000269280.4_Missense_Mutation_p.T546I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.T546I|NLRP1_ENST00000354411.3_Missense_Mutation_p.T546I|NLRP1_ENST00000345221.3_Missense_Mutation_p.T546I|NLRP1_ENST00000577119.1_Missense_Mutation_p.T546I			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	546	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTTGTGGTGGTCTTGGAAGT	0.582																																						dbGAP											0													124.0	102.0	110.0					17																	5462379		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1637C>T	17.37:g.5462379G>A	ENSP00000460475:p.Thr546Ile		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.T546I	ENST00000572272.1	37	c.1637	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604190	0.66445	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.77358	-1.09;-1.09;-1.06;-1.04;-1.06	4.44	4.44	0.53790	NACHT nucleoside triphosphatase (1);	0.000000	0.41712	D	0.000839	D	0.90150	0.6922	M	0.94021	3.485	0.31233	N	0.696108	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.992;0.997;0.992	D	0.90150	0.4220	10	0.87932	D	0	.	12.8377	0.57782	0.0:0.0:1.0:0.0	.	546;546;546;546;546	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	I	546	ENSP00000442029:T546I;ENSP00000262467:T546I;ENSP00000269280:T546I;ENSP00000346390:T546I;ENSP00000324366:T546I	ENSP00000262467:T546I	T	-	2	0	NLRP1	5403103	0.998000	0.40836	0.559000	0.28332	0.015000	0.08874	3.402000	0.52608	2.483000	0.83821	0.650000	0.86243	ACC	NLRP1	-	pfscan_NACHT_NTPase	ENSG00000091592		0.582	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	143	0.00	0	G	NM_033004		5462379	5462379	-1	no_errors	ENST00000572272	ensembl	human	known	69_37n	missense	124	30.34	54	SNP	0.814	A
OR4M1	441670	genome.wustl.edu	37	14	20248544	20248544	+	Silent	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr14:20248544G>A	ENST00000315957.4	+	1	144	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCAGACTCGGGAGGTCCAAC	0.373																																						dbGAP											0													169.0	182.0	177.0					14																	20248544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.63G>A	14.37:g.20248544G>A			B9EH18|Q6IFA3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R21	ENST00000315957.4	37	c.63	CCDS32021.1	14																																																																																			OR4M1	-	NULL	ENSG00000176299		0.373	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	705	0.00	0	G			20248544	20248544	+1	no_errors	ENST00000315957	ensembl	human	known	69_37n	silent	740	18.23	165	SNP	0.575	A
OR4M1	441670	genome.wustl.edu	37	14	20248544	20248544	+	Silent	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr14:20248544G>A	ENST00000315957.4	+	1	144	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCAGACTCGGGAGGTCCAAC	0.373																																						dbGAP											0													169.0	182.0	177.0					14																	20248544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.63G>A	14.37:g.20248544G>A			B9EH18|Q6IFA3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R21	ENST00000315957.4	37	c.63	CCDS32021.1	14																																																																																			OR4M1	-	NULL	ENSG00000176299		0.373	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	667	0.00	0	G			20248544	20248544	+1	no_errors	ENST00000315957	ensembl	human	known	69_37n	silent	740	18.23	165	SNP	0.575	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	101	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	62	39.81	41	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	104	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	62	39.81	41	SNP	1.000	A
PORCN	64840	genome.wustl.edu	37	X	48370989	48370990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chrX:48370989_48370990insT	ENST00000326194.6	+	5	611_612	c.568_569insT	c.(568-570)ctgfs	p.L190fs	PORCN_ENST00000537758.1_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000361988.3_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000359882.4_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000355961.4_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000355092.3_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000367574.4_Frame_Shift_Ins_p.L119fs	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	190					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCGGTGGCTGCAGAAGGTG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.569dupT	X.37:g.48370990_48370990dupT	ENSP00000322304:p.Leu190fs		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Frame_Shift_Ins	INS	pfam_MBOAT_fam	p.Q191fs	ENST00000326194.6	37	c.568_569	CCDS14299.1	X																																																																																			PORCN	-	pfam_MBOAT_fam	ENSG00000102312		0.649	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	13	0.00	0	-	NM_022825		48370989	48370990	+1	no_errors	ENST00000326194	ensembl	human	known	69_37n	frame_shift_ins	5	50.00	5	INS	1.000:1.000	T
PORCN	64840	genome.wustl.edu	37	X	48370989	48370990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chrX:48370989_48370990insT	ENST00000326194.6	+	5	611_612	c.568_569insT	c.(568-570)ctgfs	p.L190fs	PORCN_ENST00000537758.1_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000361988.3_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000359882.4_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000355961.4_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000355092.3_Frame_Shift_Ins_p.L190fs|PORCN_ENST00000367574.4_Frame_Shift_Ins_p.L119fs	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	190					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCGGTGGCTGCAGAAGGTG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.569dupT	X.37:g.48370990_48370990dupT	ENSP00000322304:p.Leu190fs		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Frame_Shift_Ins	INS	pfam_MBOAT_fam	p.Q191fs	ENST00000326194.6	37	c.568_569	CCDS14299.1	X																																																																																			PORCN	-	pfam_MBOAT_fam	ENSG00000102312		0.649	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	16	0.00	0	-	NM_022825		48370989	48370990	+1	no_errors	ENST00000326194	ensembl	human	known	69_37n	frame_shift_ins	5	50.00	5	INS	1.000:1.000	T
PPHLN1	51535	genome.wustl.edu	37	12	42835228	42835228	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr12:42835228A>C	ENST00000395568.2	+	10	1105	c.1021A>C	c.(1021-1023)Ata>Cta	p.I341L	PPHLN1_ENST00000449194.2_Missense_Mutation_p.I322L|PPHLN1_ENST00000256678.8_Missense_Mutation_p.I221L|PPHLN1_ENST00000395580.3_Missense_Mutation_p.I348L|PPHLN1_ENST00000552761.1_Missense_Mutation_p.I293L|PPHLN1_ENST00000549190.1_Missense_Mutation_p.I359L|PPHLN1_ENST00000337898.6_Missense_Mutation_p.I286L|PPHLN1_ENST00000432191.2_Missense_Mutation_p.I286L|PPHLN1_ENST00000358314.7_Missense_Mutation_p.I341L|PPHLN1_ENST00000317560.9_Missense_Mutation_p.I274L	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	341					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTTACATGAAATAGGTGAGCG	0.383																																						dbGAP											0													122.0	120.0	121.0					12																	42835228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1021A>C	12.37:g.42835228A>C	ENSP00000378935:p.Ile341Leu		E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	NULL	p.I341L	ENST00000395568.2	37	c.1021	CCDS31777.1	12	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355669	0.82243	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.02	4.88	0.63580	.	0.040306	0.85682	D	0.000000	T	0.65344	0.2682	L	0.54908	1.71	0.50813	D	0.999891	P;P;P;P;P;P;P;B;P;P;P;P	0.49635	0.735;0.849;0.926;0.875;0.861;0.849;0.926;0.294;0.73;0.73;0.73;0.73	B;P;P;P;P;P;P;B;B;P;B;P	0.56612	0.331;0.61;0.802;0.46;0.562;0.455;0.705;0.328;0.426;0.495;0.426;0.495	T	0.64011	-0.6507	9	0.41790	T	0.15	-14.4897	12.049	0.53495	0.933:0.0:0.067:0.0	.	274;221;267;286;274;286;341;322;341;293;348;359	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;F8W0Q9	.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.	L	359;348;286;341;341;221;322;293;274;286	.	ENSP00000256678:I221L	I	+	1	0	PPHLN1	41121495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.938000	0.70170	1.109000	0.41680	0.529000	0.55759	ATA	PPHLN1	-	NULL	ENSG00000134283		0.383	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	HGNC	protein_coding	OTTHUMT00000404047.1	141	0.00	0	A	NM_201515		42835228	42835228	+1	no_errors	ENST00000395568	ensembl	human	known	69_37n	missense	115	32.95	57	SNP	1.000	C
PPHLN1	51535	genome.wustl.edu	37	12	42835228	42835228	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr12:42835228A>C	ENST00000395568.2	+	10	1105	c.1021A>C	c.(1021-1023)Ata>Cta	p.I341L	PPHLN1_ENST00000449194.2_Missense_Mutation_p.I322L|PPHLN1_ENST00000256678.8_Missense_Mutation_p.I221L|PPHLN1_ENST00000395580.3_Missense_Mutation_p.I348L|PPHLN1_ENST00000552761.1_Missense_Mutation_p.I293L|PPHLN1_ENST00000549190.1_Missense_Mutation_p.I359L|PPHLN1_ENST00000337898.6_Missense_Mutation_p.I286L|PPHLN1_ENST00000432191.2_Missense_Mutation_p.I286L|PPHLN1_ENST00000358314.7_Missense_Mutation_p.I341L|PPHLN1_ENST00000317560.9_Missense_Mutation_p.I274L	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	341					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTTACATGAAATAGGTGAGCG	0.383																																						dbGAP											0													122.0	120.0	121.0					12																	42835228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1021A>C	12.37:g.42835228A>C	ENSP00000378935:p.Ile341Leu		E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	NULL	p.I341L	ENST00000395568.2	37	c.1021	CCDS31777.1	12	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355669	0.82243	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.02	4.88	0.63580	.	0.040306	0.85682	D	0.000000	T	0.65344	0.2682	L	0.54908	1.71	0.50813	D	0.999891	P;P;P;P;P;P;P;B;P;P;P;P	0.49635	0.735;0.849;0.926;0.875;0.861;0.849;0.926;0.294;0.73;0.73;0.73;0.73	B;P;P;P;P;P;P;B;B;P;B;P	0.56612	0.331;0.61;0.802;0.46;0.562;0.455;0.705;0.328;0.426;0.495;0.426;0.495	T	0.64011	-0.6507	9	0.41790	T	0.15	-14.4897	12.049	0.53495	0.933:0.0:0.067:0.0	.	274;221;267;286;274;286;341;322;341;293;348;359	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;F8W0Q9	.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.	L	359;348;286;341;341;221;322;293;274;286	.	ENSP00000256678:I221L	I	+	1	0	PPHLN1	41121495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.938000	0.70170	1.109000	0.41680	0.529000	0.55759	ATA	PPHLN1	-	NULL	ENSG00000134283		0.383	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	HGNC	protein_coding	OTTHUMT00000404047.1	160	0.00	0	A	NM_201515		42835228	42835228	+1	no_errors	ENST00000395568	ensembl	human	known	69_37n	missense	115	32.95	57	SNP	1.000	C
PSMD13	5719	genome.wustl.edu	37	11	244466	244466	+	Silent	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr11:244466G>A	ENST00000532097.1	+	5	810	c.306G>A	c.(304-306)gaG>gaA	p.E102E	PSMD13_ENST00000431206.2_Silent_p.E104E|PSMD13_ENST00000352303.5_Silent_p.E102E	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		AGACTCGTGAGAAGGTAAATG	0.418																																						dbGAP											0													144.0	143.0	144.0					11																	244466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.306G>A	11.37:g.244466G>A			B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	NULL	p.R13K	ENST00000532097.1	37	c.38	CCDS7692.1	11	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192596	0.21954	.	.	ENSG00000185627	ENST00000526783	.	.	.	5.94	1.35	0.21983	.	.	.	.	.	T	0.58366	0.2117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52823	-0.8524	4	.	.	.	.	10.0738	0.42349	0.39:0.0:0.61:0.0	.	.	.	.	K	13	.	.	R	+	2	0	PSMD13	234466	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.159000	0.31749	0.375000	0.24679	0.563000	0.77884	AGA	PSMD13	-	NULL	ENSG00000185627		0.418	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD13	HGNC	protein_coding	OTTHUMT00000239286.2	162	0.00	0	G	NM_002817		244466	244466	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526783	ensembl	human	novel	69_37n	missense	83	16.16	16	SNP	0.998	A
PSMD13	5719	genome.wustl.edu	37	11	244466	244466	+	Silent	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr11:244466G>A	ENST00000532097.1	+	5	810	c.306G>A	c.(304-306)gaG>gaA	p.E102E	PSMD13_ENST00000431206.2_Silent_p.E104E|PSMD13_ENST00000352303.5_Silent_p.E102E	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		AGACTCGTGAGAAGGTAAATG	0.418																																						dbGAP											0													144.0	143.0	144.0					11																	244466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.306G>A	11.37:g.244466G>A			B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	NULL	p.R13K	ENST00000532097.1	37	c.38	CCDS7692.1	11	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192596	0.21954	.	.	ENSG00000185627	ENST00000526783	.	.	.	5.94	1.35	0.21983	.	.	.	.	.	T	0.58366	0.2117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52823	-0.8524	4	.	.	.	.	10.0738	0.42349	0.39:0.0:0.61:0.0	.	.	.	.	K	13	.	.	R	+	2	0	PSMD13	234466	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.159000	0.31749	0.375000	0.24679	0.563000	0.77884	AGA	PSMD13	-	NULL	ENSG00000185627		0.418	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD13	HGNC	protein_coding	OTTHUMT00000239286.2	62	0.00	0	G	NM_002817		244466	244466	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526783	ensembl	human	novel	69_37n	missense	83	16.16	16	SNP	0.998	A
RP1L1	94137	genome.wustl.edu	37	8	10465798	10465798	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr8:10465798C>A	ENST00000382483.3	-	4	6033	c.5810G>T	c.(5809-5811)gGt>gTt	p.G1937V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2017	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTGCACCTTCTGACTC	0.607																																						dbGAP											0													122.0	139.0	134.0					8																	10465798		2064	4181	6245	-	-	-	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5810G>T	8.37:g.10465798C>A	ENSP00000371923:p.Gly1937Val		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G1937V	ENST00000382483.3	37	c.5810	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	3.652	-0.071229	0.07228	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.24	0.171	0.15026	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44907	-0.9297	9	0.27082	T	0.32	.	3.1179	0.06381	0.0:0.415:0.2296:0.3554	.	1937	A6NKC6	.	V	1937	ENSP00000371923:G1937V	ENSP00000371923:G1937V	G	-	2	0	RP1L1	10503208	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.217000	0.02979	-0.284000	0.09102	-0.727000	0.03589	GGT	RP1L1	-	NULL	ENSG00000183638		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	312	0.32	1	C			10465798	10465798	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	missense	156	50.47	162	SNP	0.000	A
RP1L1	94137	genome.wustl.edu	37	8	10465798	10465798	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr8:10465798C>A	ENST00000382483.3	-	4	6033	c.5810G>T	c.(5809-5811)gGt>gTt	p.G1937V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2017	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTGCACCTTCTGACTC	0.607																																						dbGAP											0													122.0	139.0	134.0					8																	10465798		2064	4181	6245	-	-	-	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5810G>T	8.37:g.10465798C>A	ENSP00000371923:p.Gly1937Val		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G1937V	ENST00000382483.3	37	c.5810	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	3.652	-0.071229	0.07228	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.24	0.171	0.15026	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44907	-0.9297	9	0.27082	T	0.32	.	3.1179	0.06381	0.0:0.415:0.2296:0.3554	.	1937	A6NKC6	.	V	1937	ENSP00000371923:G1937V	ENSP00000371923:G1937V	G	-	2	0	RP1L1	10503208	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.217000	0.02979	-0.284000	0.09102	-0.727000	0.03589	GGT	RP1L1	-	NULL	ENSG00000183638		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	634	0.00	0	C			10465798	10465798	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	missense	156	50.47	162	SNP	0.000	A
SEC13	6396	genome.wustl.edu	37	3	10354287	10354287	+	Missense_Mutation	SNP	C	C	T	rs149879822		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr3:10354287C>T	ENST00000350697.3	-	4	417	c.292G>A	c.(292-294)Gag>Aag	p.E98K	SEC13_ENST00000397109.3_Missense_Mutation_p.E84K|SEC13_ENST00000397117.1_Missense_Mutation_p.E84K|SEC13_ENST00000337354.4_Missense_Mutation_p.E101K|SEC13_ENST00000383801.2_Missense_Mutation_p.E144K	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CCCGCATGCTCGTGGCTCTTC	0.592																																						dbGAP											0													121.0	125.0	124.0					3																	10354287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.292G>A	3.37:g.10354287C>T	ENSP00000312122:p.Glu98Lys		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E98K	ENST00000350697.3	37	c.292	CCDS2599.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.86	3.712761	0.68730	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.45744	1.44	0.80722	D	1	D;P;P;B;P	0.89917	1.0;0.735;0.459;0.183;0.608	D;B;B;B;B	0.78314	0.991;0.095;0.237;0.017;0.125	T	0.70494	-0.4856	10	0.49607	T	0.09	.	15.6633	0.77206	0.0:1.0:0.0:0.0	.	98;98;84;144;98	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	K	84;101;98;84;144;98	ENSP00000380298:E84K;ENSP00000336566:E101K;ENSP00000312122:E98K;ENSP00000380306:E84K;ENSP00000373312:E144K	ENSP00000336566:E101K	E	-	1	0	SEC13	10329287	1.000000	0.71417	0.977000	0.42913	0.831000	0.47069	5.925000	0.70062	2.276000	0.75962	0.561000	0.74099	GAG	SEC13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000157020		0.592	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3	85	0.00	0	C			10354287	10354287	-1	no_errors	ENST00000350697	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	1.000	T
SEC13	6396	genome.wustl.edu	37	3	10354287	10354287	+	Missense_Mutation	SNP	C	C	T	rs149879822		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr3:10354287C>T	ENST00000350697.3	-	4	417	c.292G>A	c.(292-294)Gag>Aag	p.E98K	SEC13_ENST00000397109.3_Missense_Mutation_p.E84K|SEC13_ENST00000397117.1_Missense_Mutation_p.E84K|SEC13_ENST00000337354.4_Missense_Mutation_p.E101K|SEC13_ENST00000383801.2_Missense_Mutation_p.E144K	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CCCGCATGCTCGTGGCTCTTC	0.592																																						dbGAP											0													121.0	125.0	124.0					3																	10354287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.292G>A	3.37:g.10354287C>T	ENSP00000312122:p.Glu98Lys		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E98K	ENST00000350697.3	37	c.292	CCDS2599.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.86	3.712761	0.68730	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.45744	1.44	0.80722	D	1	D;P;P;B;P	0.89917	1.0;0.735;0.459;0.183;0.608	D;B;B;B;B	0.78314	0.991;0.095;0.237;0.017;0.125	T	0.70494	-0.4856	10	0.49607	T	0.09	.	15.6633	0.77206	0.0:1.0:0.0:0.0	.	98;98;84;144;98	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	K	84;101;98;84;144;98	ENSP00000380298:E84K;ENSP00000336566:E101K;ENSP00000312122:E98K;ENSP00000380306:E84K;ENSP00000373312:E144K	ENSP00000336566:E101K	E	-	1	0	SEC13	10329287	1.000000	0.71417	0.977000	0.42913	0.831000	0.47069	5.925000	0.70062	2.276000	0.75962	0.561000	0.74099	GAG	SEC13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000157020		0.592	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3	47	0.00	0	C			10354287	10354287	-1	no_errors	ENST00000350697	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	1.000	T
SH2D4B	387694	genome.wustl.edu	37	10	82369254	82369254	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr10:82369254C>T	ENST00000470604.2	+	6	929	c.929C>T	c.(928-930)cCt>cTt	p.P310L	SH2D4B_ENST00000339284.2_Missense_Mutation_p.P311L|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Missense_Mutation_p.P263L			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	310										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAGCAGCTGCCTCGCCGAGCT	0.582																																						dbGAP											0													101.0	91.0	94.0					10																	82369254		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.929C>T	10.37:g.82369254C>T	ENSP00000417953:p.Pro310Leu		Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P310L	ENST00000470604.2	37	c.929		10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776237	0.90195	.	.	ENSG00000178217	ENST00000339284;ENST00000470604;ENST00000313455	T;T;T	0.26067	1.76;1.76;1.76	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.48409	0.1498	M	0.74258	2.255	0.80722	D	1	B;D;P	0.57571	0.006;0.98;0.876	B;P;B	0.58970	0.03;0.849;0.43	T	0.51655	-0.8678	10	0.87932	D	0	-13.3124	16.5076	0.84276	0.0:1.0:0.0:0.0	.	310;263;311	Q5SQS7;Q5SQS7-3;Q5SQS7-2	SH24B_HUMAN;.;.	L	311;310;263	ENSP00000345295:P311L;ENSP00000417953:P310L;ENSP00000314242:P263L	ENSP00000314242:P263L	P	+	2	0	SH2D4B	82359234	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.692000	0.68256	2.495000	0.84180	0.563000	0.77884	CCT	SH2D4B	-	NULL	ENSG00000178217		0.582	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		176	0.00	0	C	XM_351984		82369254	82369254	+1	no_errors	ENST00000470604	ensembl	human	known	69_37n	missense	66	36.54	38	SNP	1.000	T
SH2D4B	387694	genome.wustl.edu	37	10	82369254	82369254	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr10:82369254C>T	ENST00000470604.2	+	6	929	c.929C>T	c.(928-930)cCt>cTt	p.P310L	SH2D4B_ENST00000339284.2_Missense_Mutation_p.P311L|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Missense_Mutation_p.P263L			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	310										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAGCAGCTGCCTCGCCGAGCT	0.582																																						dbGAP											0													101.0	91.0	94.0					10																	82369254		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.929C>T	10.37:g.82369254C>T	ENSP00000417953:p.Pro310Leu		Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P310L	ENST00000470604.2	37	c.929		10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776237	0.90195	.	.	ENSG00000178217	ENST00000339284;ENST00000470604;ENST00000313455	T;T;T	0.26067	1.76;1.76;1.76	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.48409	0.1498	M	0.74258	2.255	0.80722	D	1	B;D;P	0.57571	0.006;0.98;0.876	B;P;B	0.58970	0.03;0.849;0.43	T	0.51655	-0.8678	10	0.87932	D	0	-13.3124	16.5076	0.84276	0.0:1.0:0.0:0.0	.	310;263;311	Q5SQS7;Q5SQS7-3;Q5SQS7-2	SH24B_HUMAN;.;.	L	311;310;263	ENSP00000345295:P311L;ENSP00000417953:P310L;ENSP00000314242:P263L	ENSP00000314242:P263L	P	+	2	0	SH2D4B	82359234	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.692000	0.68256	2.495000	0.84180	0.563000	0.77884	CCT	SH2D4B	-	NULL	ENSG00000178217		0.582	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		165	0.00	0	C	XM_351984		82369254	82369254	+1	no_errors	ENST00000470604	ensembl	human	known	69_37n	missense	66	36.54	38	SNP	1.000	T
SNX25	83891	genome.wustl.edu	37	4	186188284	186188284	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr4:186188284G>A	ENST00000504273.1	+	5	868	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SNX25_ENST00000264694.8_Missense_Mutation_p.D192N			Q9H3E2	SNX25_HUMAN	sorting nexin 25	192					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAGCAACTCTGATGTGGAGTT	0.428																																						dbGAP											0													122.0	118.0	119.0					4																	186188284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.574G>A	4.37:g.186188284G>A	ENSP00000426255:p.Asp192Asn		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D192N	ENST00000504273.1	37	c.574	CCDS34116.1	4	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412822	0.62511	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.09630	2.96;2.96	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.43152	1.355	0.58432	D	0.999993	B	0.30851	0.297	B	0.30029	0.11	T	0.14504	-1.0470	10	0.12766	T	0.61	-12.2443	18.2534	0.90011	0.0:0.0:1.0:0.0	.	192	Q9H3E2	SNX25_HUMAN	N	192	ENSP00000426255:D192N;ENSP00000264694:D192N	ENSP00000264694:D192N	D	+	1	0	SNX25	186425278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.248000	0.95456	2.541000	0.85698	0.655000	0.94253	GAT	SNX25	-	NULL	ENSG00000109762		0.428	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	264	0.00	0	G	NM_031953		186188284	186188284	+1	no_errors	ENST00000264694	ensembl	human	known	69_37n	missense	126	20.25	32	SNP	1.000	A
SNX25	83891	genome.wustl.edu	37	4	186188284	186188284	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr4:186188284G>A	ENST00000504273.1	+	5	868	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SNX25_ENST00000264694.8_Missense_Mutation_p.D192N			Q9H3E2	SNX25_HUMAN	sorting nexin 25	192					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAGCAACTCTGATGTGGAGTT	0.428																																						dbGAP											0													122.0	118.0	119.0					4																	186188284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.574G>A	4.37:g.186188284G>A	ENSP00000426255:p.Asp192Asn		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D192N	ENST00000504273.1	37	c.574	CCDS34116.1	4	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412822	0.62511	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.09630	2.96;2.96	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.43152	1.355	0.58432	D	0.999993	B	0.30851	0.297	B	0.30029	0.11	T	0.14504	-1.0470	10	0.12766	T	0.61	-12.2443	18.2534	0.90011	0.0:0.0:1.0:0.0	.	192	Q9H3E2	SNX25_HUMAN	N	192	ENSP00000426255:D192N;ENSP00000264694:D192N	ENSP00000264694:D192N	D	+	1	0	SNX25	186425278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.248000	0.95456	2.541000	0.85698	0.655000	0.94253	GAT	SNX25	-	NULL	ENSG00000109762		0.428	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	214	0.00	0	G	NM_031953		186188284	186188284	+1	no_errors	ENST00000264694	ensembl	human	known	69_37n	missense	126	20.25	32	SNP	1.000	A
SSPO	23145	genome.wustl.edu	37	7	149481940	149481940	+	RNA	SNP	G	G	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr7:149481940G>T	ENST00000378016.2	+	0	2730							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCCTCTGGAATTGCACGG	0.607																																						dbGAP											0													67.0	72.0	70.0					7																	149481940		2006	4185	6191	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481940G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.607	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		32	0.00	0	G			149481940	149481940	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	1.000	T
SSPO	23145	genome.wustl.edu	37	7	149481940	149481940	+	RNA	SNP	G	G	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr7:149481940G>T	ENST00000378016.2	+	0	2730							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCCTCTGGAATTGCACGG	0.607																																						dbGAP											0													67.0	72.0	70.0					7																	149481940		2006	4185	6191	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481940G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.607	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		44	0.00	0	G			149481940	149481940	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	1.000	T
THEMIS2	9473	genome.wustl.edu	37	1	28211957	28211957	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr1:28211957A>T	ENST00000373921.3	+	5	1875	c.1871A>T	c.(1870-1872)gAt>gTt	p.D624V	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D495V	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	624					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAAGGCAGGATCTAGGTGAG	0.597																																						dbGAP											0													45.0	42.0	43.0					1																	28211957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1871A>T	1.37:g.28211957A>T	ENSP00000363031:p.Asp624Val		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.D624V	ENST00000373921.3	37	c.1871	CCDS41290.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.57|13.57	2.277467|2.277467	0.40294|0.40294	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.26810|.	1.71;1.75|.	3.66|3.66	1.2|1.2	0.21068|0.21068	.|.	1.679270|.	0.03306|.	N|.	0.189813|.	T|T	0.41419|0.41419	0.1158|0.1158	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	D;D;P|.	0.69078|.	0.978;0.997;0.845|.	P;D;B|.	0.63793|.	0.792;0.918;0.166|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.72032|.	D|.	0.01|.	-2.1531|-2.1531	7.8636|7.8636	0.29524|0.29524	0.5787:0.4213:0.0:0.0|0.5787:0.4213:0.0:0.0	.|.	495;428;624|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	V|F	495;624|372	ENSP00000329862:D495V;ENSP00000363031:D624V|.	ENSP00000329862:D495V|.	D|I	+|+	2|1	0|0	C1orf38|C1orf38	28084544|28084544	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.190000|0.190000	0.17057|0.17057	0.229000|0.229000	0.21039|0.21039	0.454000|0.454000	0.30748|0.30748	GAT|ATC	THEMIS2	-	NULL	ENSG00000130775		0.597	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	35	0.00	0	A	NM_004848		28211957	28211957	+1	no_errors	ENST00000373921	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.000	T
THEMIS2	9473	genome.wustl.edu	37	1	28211957	28211957	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr1:28211957A>T	ENST00000373921.3	+	5	1875	c.1871A>T	c.(1870-1872)gAt>gTt	p.D624V	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D495V	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	624					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAAGGCAGGATCTAGGTGAG	0.597																																						dbGAP											0													45.0	42.0	43.0					1																	28211957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1871A>T	1.37:g.28211957A>T	ENSP00000363031:p.Asp624Val		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.D624V	ENST00000373921.3	37	c.1871	CCDS41290.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.57|13.57	2.277467|2.277467	0.40294|0.40294	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.26810|.	1.71;1.75|.	3.66|3.66	1.2|1.2	0.21068|0.21068	.|.	1.679270|.	0.03306|.	N|.	0.189813|.	T|T	0.41419|0.41419	0.1158|0.1158	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	D;D;P|.	0.69078|.	0.978;0.997;0.845|.	P;D;B|.	0.63793|.	0.792;0.918;0.166|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.72032|.	D|.	0.01|.	-2.1531|-2.1531	7.8636|7.8636	0.29524|0.29524	0.5787:0.4213:0.0:0.0|0.5787:0.4213:0.0:0.0	.|.	495;428;624|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	V|F	495;624|372	ENSP00000329862:D495V;ENSP00000363031:D624V|.	ENSP00000329862:D495V|.	D|I	+|+	2|1	0|0	C1orf38|C1orf38	28084544|28084544	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.190000|0.190000	0.17057|0.17057	0.229000|0.229000	0.21039|0.21039	0.454000|0.454000	0.30748|0.30748	GAT|ATC	THEMIS2	-	NULL	ENSG00000130775		0.597	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	52	0.00	0	A	NM_004848		28211957	28211957	+1	no_errors	ENST00000373921	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.000	T
TMEM132D	121256	genome.wustl.edu	37	12	130184704	130184705	+	Frame_Shift_Ins	INS	-	-	G	rs372463803		TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr12:130184704_130184705insG	ENST00000422113.2	-	2	944_945	c.618_619insC	c.(616-621)cccacgfs	p.T207fs	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	207					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCAACCACCGTGGGGGGGCTGA	0.708																																						dbGAP											0										15,4239		0,15,2112						2.9	0.0		dbSNP_130	22	15,8215		0,15,4100	no	frameshift	TMEM132D	NM_133448.2		0,30,6212	A1A1,A1R,RR		0.1823,0.3526,0.2403				30,12454				-	-	-	SO:0001589	frameshift_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.619dupC	12.37:g.130184711_130184711dupG	ENSP00000408581:p.Thr207fs		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Ins	INS	NULL	p.T206fs	ENST00000422113.2	37	c.619_618	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.708	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	22	0.00	0	-	NM_133448		130184704	130184705	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	frame_shift_ins	15	21.05	4	INS	0.073:0.027	G
UBL3	5412	genome.wustl.edu	37	13	30351391	30351391	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr13:30351391G>A	ENST00000380680.4	-	2	1182	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	13	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		AAAATGAGGCGCAAATTTATC	0.328																																						dbGAP											0													76.0	72.0	74.0					13																	30351391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.37C>T	13.37:g.30351391G>A	ENSP00000370055:p.Arg13Cys		B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup	p.R13C	ENST00000380680.4	37	c.37	CCDS9334.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541792	0.85917	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.77	5.77	0.91146	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	D	0.83631	0.5296	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84662	0.0707	9	0.87932	D	0	-21.5722	19.335	0.94312	0.0:0.0:1.0:0.0	.	13	O95164	UBL3_HUMAN	C	13	.	ENSP00000370055:R13C	R	-	1	0	UBL3	29249391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.136000	0.77285	2.890000	0.99128	0.650000	0.86243	CGC	UBL3	-	pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup	ENSG00000122042		0.328	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL3	HGNC	protein_coding	OTTHUMT00000044342.1	119	0.00	0	G	NM_007106		30351391	30351391	-1	no_errors	ENST00000380680	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	A
UBL3	5412	genome.wustl.edu	37	13	30351391	30351391	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr13:30351391G>A	ENST00000380680.4	-	2	1182	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	13	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		AAAATGAGGCGCAAATTTATC	0.328																																						dbGAP											0													76.0	72.0	74.0					13																	30351391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.37C>T	13.37:g.30351391G>A	ENSP00000370055:p.Arg13Cys		B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup	p.R13C	ENST00000380680.4	37	c.37	CCDS9334.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541792	0.85917	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.77	5.77	0.91146	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	D	0.83631	0.5296	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84662	0.0707	9	0.87932	D	0	-21.5722	19.335	0.94312	0.0:0.0:1.0:0.0	.	13	O95164	UBL3_HUMAN	C	13	.	ENSP00000370055:R13C	R	-	1	0	UBL3	29249391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.136000	0.77285	2.890000	0.99128	0.650000	0.86243	CGC	UBL3	-	pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup	ENSG00000122042		0.328	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL3	HGNC	protein_coding	OTTHUMT00000044342.1	93	0.00	0	G	NM_007106		30351391	30351391	-1	no_errors	ENST00000380680	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	A
USP36	57602	genome.wustl.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040|rs537129179	byFrequency	TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr17:76799860_76799861insG	ENST00000542802.3	-	16	2859_2860	c.2416_2417insC	c.(2416-2418)cagfs	p.Q806fs	USP36_ENST00000312010.6_Frame_Shift_Ins_p.Q806fs|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2417dupC	17.37:g.76799867_76799867dupG	ENSP00000441214:p.Gln806fs		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q806fs	ENST00000542802.3	37	c.2417_2416	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.629	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	30	0.00	0	-	NM_025090		76799860	76799861	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.000:0.000	G
ZFHX4	79776	genome.wustl.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	b843963e-eb76-4c5b-9b0d-e9c85ce8da9c	g.chr8:77766283G>A	ENST00000521891.2	+	10	7574	c.7126G>A	c.(7126-7128)Gct>Act	p.A2376T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A2360P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAACGCTGCTGCCCC	0.512										HNSCC(33;0.089)																												dbGAP											2	Substitution - Missense(2)	lung(2)											107.0	106.0	106.0					8																	77766283		2002	4167	6169	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7126G>A	8.37:g.77766283G>A	ENSP00000430497:p.Ala2376Thr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2376T	ENST00000521891.2	37	c.7126	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674167	0.14841	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.78	4.8	-6.02	0.02192	.	1.168090	0.06525	N	0.740447	T	0.21674	0.0522	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18935	-1.0321	10	0.17369	T	0.5	.	0.1442	0.00086	0.303:0.2475:0.1944:0.2551	.	2331;2331;2376	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2376;2360;2331;2331;2350	ENSP00000430497:A2376T;ENSP00000399605:A2331T;ENSP00000050961:A2331T;ENSP00000430848:A2350T	ENSP00000050961:A2331T	A	+	1	0	ZFHX4	77928838	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	-1.347000	0.02632	-0.678000	0.05224	-0.247000	0.11927	GCT	ZFHX4	-	NULL	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	390	0.00	0	G	NM_024721		77766283	77766283	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	204	32.45	98	SNP	0.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BV-01A-11W-A019-09	TCGA-BH-A0BV-11A-31W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7ac613ae-249a-4f24-9ecd-8a9b583b2966	0af2a93f-7254-4396-af65-c45fcbdc9f49	g.chr8:77766283G>A	ENST00000521891.2	+	10	7574	c.7126G>A	c.(7126-7128)Gct>Act	p.A2376T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A2360P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAACGCTGCTGCCCC	0.512										HNSCC(33;0.089)																												dbGAP											2	Substitution - Missense(2)	lung(2)											107.0	106.0	106.0					8																	77766283		2002	4167	6169	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7126G>A	8.37:g.77766283G>A	ENSP00000430497:p.Ala2376Thr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2376T	ENST00000521891.2	37	c.7126	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674167	0.14841	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.78	4.8	-6.02	0.02192	.	1.168090	0.06525	N	0.740447	T	0.21674	0.0522	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18935	-1.0321	10	0.17369	T	0.5	.	0.1442	0.00086	0.303:0.2475:0.1944:0.2551	.	2331;2331;2376	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2376;2360;2331;2331;2350	ENSP00000430497:A2376T;ENSP00000399605:A2331T;ENSP00000050961:A2331T;ENSP00000430848:A2350T	ENSP00000050961:A2331T	A	+	1	0	ZFHX4	77928838	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	-1.347000	0.02632	-0.678000	0.05224	-0.247000	0.11927	GCT	ZFHX4	-	NULL	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	288	0.00	0	G	NM_024721		77766283	77766283	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	204	32.45	98	SNP	0.000	A
