#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AAK1	22848	genome.wustl.edu	37	2	69708073	69708073	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:69708073C>G	ENST00000409085.4	-	19	2864	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	830					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ATGAGACTCTCAACAGCAACA	0.493																																						dbGAP											0													58.0	64.0	62.0					2																	69708073		1884	4116	6000	-	-	-	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2488G>C	2.37:g.69708073C>G	ENSP00000386456:p.Glu830Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	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.E830Q	ENST00000409085.4	37	c.2488	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205937	0.79127	.	.	ENSG00000115977	ENST00000409085	T	0.39229	1.09	4.75	4.75	0.60458	.	.	.	.	.	T	0.49915	0.1585	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.55412	-0.8145	9	0.72032	D	0.01	18.9139	16.908	0.86133	0.0:1.0:0.0:0.0	.	830	Q2M2I8	AAK1_HUMAN	Q	830	ENSP00000386456:E830Q	ENSP00000386456:E830Q	E	-	1	0	AAK1	69561577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.901000	0.69861	2.463000	0.83235	0.585000	0.79938	GAG	AAK1	-	NULL	ENSG00000115977		0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	50	0.00	0	C	NM_014911		69708073	69708073	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	missense	54	20.59	14	SNP	1.000	G
ABT1	29777	genome.wustl.edu	37	6	26598517	26598517	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:26598517C>T	ENST00000274849.1	+	3	494	c.463C>T	c.(463-465)Cac>Tac	p.H155Y		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	155					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CACCTGGTCCCACCTCAGCGA	0.542																																						dbGAP											0													131.0	131.0	131.0					6																	26598517		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.463C>T	6.37:g.26598517C>T	ENSP00000274849:p.His155Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H155Y	ENST00000274849.1	37	c.463	CCDS4616.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926736	0.92319	.	.	ENSG00000146109	ENST00000274849	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.68973	-0.5268	9	0.18710	T	0.47	-7.578	17.3171	0.87227	0.0:1.0:0.0:0.0	.	155	Q9ULW3	ABT1_HUMAN	Y	155	.	ENSP00000274849:H155Y	H	+	1	0	ABT1	26706496	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.793000	0.75130	2.765000	0.95021	0.563000	0.77884	CAC	ABT1	-	NULL	ENSG00000146109		0.542	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABT1	HGNC	protein_coding	OTTHUMT00000043698.1	65	0.00	0	C			26598517	26598517	+1	no_errors	ENST00000274849	ensembl	human	known	69_37n	missense	81	34.15	42	SNP	1.000	T
ADAM15	8751	genome.wustl.edu	37	1	155030792	155030792	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:155030792C>G	ENST00000356955.2	+	15	1893	c.1792C>G	c.(1792-1794)Cta>Gta	p.L598V	ADAM15_ENST00000359280.4_Missense_Mutation_p.L598V|ADAM15_ENST00000368413.1_Missense_Mutation_p.L304V|ADAM15_ENST00000368412.3_Missense_Mutation_p.L598V|ADAM15_ENST00000355956.2_Missense_Mutation_p.L598V|ADAM15_ENST00000271836.6_Missense_Mutation_p.L598V|ADAM15_ENST00000531455.1_Missense_Mutation_p.L608V|ADAM15_ENST00000368410.2_Missense_Mutation_p.L304V|ADAM15_ENST00000360674.4_Missense_Mutation_p.L598V|ADAM15_ENST00000447332.3_Missense_Mutation_p.L582V|ADAM15_ENST00000449910.2_Missense_Mutation_p.L598V|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	598	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CATCCGGGATCTACTCTGGGA	0.607																																						dbGAP											0													50.0	49.0	49.0					1																	155030792		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1792C>G	1.37:g.155030792C>G	ENSP00000349436:p.Leu598Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L598V	ENST00000356955.2	37	c.1792	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	4.608	0.113058	0.08831	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.37	-1.6	0.08426	ADAM, cysteine-rich (2);	1.368430	0.05292	N	0.521248	T	0.06826	0.0174	L	0.28344	0.845	0.09310	N	1	B;B;B;P;P;B;B;B;P;P;B	0.49358	0.416;0.416;0.372;0.734;0.923;0.363;0.363;0.363;0.923;0.775;0.416	B;B;B;B;P;B;B;B;P;P;B	0.50708	0.403;0.403;0.403;0.373;0.648;0.281;0.281;0.281;0.648;0.507;0.403	T	0.17018	-1.0383	10	0.16896	T	0.51	.	4.7058	0.12849	0.3747:0.3946:0.0:0.2307	.	608;615;582;598;598;598;598;598;598;598;595	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	598;598;598;598;598;598;304;598;304;608	ENSP00000349436:L598V;ENSP00000403843:L598V;ENSP00000352226:L598V;ENSP00000353892:L598V;ENSP00000357397:L598V;ENSP00000348227:L598V;ENSP00000357395:L304V;ENSP00000271836:L598V;ENSP00000357398:L304V;ENSP00000432927:L608V	ENSP00000271836:L598V	L	+	1	2	ADAM15	153297416	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.080000	0.11339	-0.087000	0.12528	0.650000	0.86243	CTA	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000143537		0.607	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	21	0.00	0	C	NM_003815		155030792	155030792	+1	no_errors	ENST00000356955	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.000	G
ADAMTS13	11093	genome.wustl.edu	37	9	136294981	136294981	+	Intron	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:136294981C>T	ENST00000371929.3	+	8	1268				ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000355699.2_Intron|ADAMTS13_ENST00000536611.1_5'UTR|ADAMTS13_ENST00000371916.1_Intron|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.S329L|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13						cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTTCCATCCTCGTGCCCACTC	0.692																																						dbGAP											0													28.0	33.0	31.0					9																	136294981		692	1589	2281	-	-	-	SO:0001627	intron_variant	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.825-78C>T	9.37:g.136294981C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B	p.S329L	ENST00000371929.3	37	c.986	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	C	8.837	0.941344	0.18281	.	.	ENSG00000160323	ENST00000371911	D	0.86497	-2.13	2.79	0.772	0.18510	.	.	.	.	.	T	0.72301	0.3443	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.56709	-0.7934	6	0.14656	T	0.56	.	3.72	0.08453	0.2397:0.6139:0.0:0.1465	.	.	.	.	L	329	ENSP00000360979:S329L	ENSP00000360979:S329L	S	+	2	0	ADAMTS13	135284802	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.459000	0.21908	0.022000	0.15160	-0.521000	0.04368	TCG	ADAMTS13	-	NULL	ENSG00000160323		0.692	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	17	0.00	0	C	NM_139025		136294981	136294981	+1	no_errors	ENST00000371911	ensembl	human	known	69_37n	missense	10	50.00	10	SNP	0.001	T
ADAMTS4	9507	genome.wustl.edu	37	1	161161333	161161333	+	Silent	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:161161333G>T	ENST00000367996.5	-	9	2537	c.2109C>A	c.(2107-2109)gtC>gtA	p.V703V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	703	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CGGGGATAGTGACCACATTGT	0.567																																						dbGAP											0													48.0	53.0	51.0					1																	161161333		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2109C>A	1.37:g.161161333G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V703	ENST00000367996.5	37	c.2109	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_ADAM_spacer1	ENSG00000158859		0.567	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	16	0.00	0	G	NM_005099		161161333	161161333	-1	no_errors	ENST00000367996	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	0.999	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18706935	18706935	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:18706935G>A	ENST00000380548.4	+	14	2104	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.E589K	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	589						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAAATTCCTGAGTTCAACCC	0.577																																						dbGAP											0													77.0	64.0	68.0					9																	18706935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1765G>A	9.37:g.18706935G>A	ENSP00000369921:p.Glu589Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E589K	ENST00000380548.4	37	c.1765	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	5.307	0.241956	0.10077	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.62498	0.03;0.02	5.78	5.78	0.91487	.	.	.	.	.	T	0.48857	0.1523	L	0.29908	0.895	0.80722	D	1	P	0.40000	0.698	B	0.35312	0.2	T	0.47983	-0.9074	9	0.07990	T	0.79	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	589	Q8N6G6	ATL1_HUMAN	K	589	ENSP00000369921:E589K;ENSP00000276935:E589K	ENSP00000276935:E589K	E	+	1	0	ADAMTSL1	18696935	0.909000	0.30893	0.059000	0.19551	0.035000	0.12851	2.847000	0.48270	2.724000	0.93272	0.563000	0.77884	GAG	ADAMTSL1	-	NULL	ENSG00000178031		0.577	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	53	0.00	0	G			18706935	18706935	+1	no_errors	ENST00000380548	ensembl	human	novel	69_37n	missense	39	37.10	23	SNP	0.848	A
ADCY10	55811	genome.wustl.edu	37	1	167868724	167868724	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:167868724G>C	ENST00000367851.4	-	6	763	c.579C>G	c.(577-579)tgC>tgG	p.C193W	ADCY10_ENST00000545172.1_Missense_Mutation_p.C40W|ADCY10_ENST00000367848.1_Missense_Mutation_p.C101W	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	193					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGAGCTGCCAGCAGTTTGGTG	0.488																																						dbGAP											0													106.0	88.0	95.0					1																	167868724		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.579C>G	1.37:g.167868724G>C	ENSP00000356825:p.Cys193Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.C193W	ENST00000367851.4	37	c.579	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810706	0.70797	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.80909	1.16;-1.43;1.37	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.64402	D	0.000002	D	0.85864	0.5796	L	0.61218	1.895	0.32537	N	0.5341359999999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.996	D	0.87432	0.2389	9	0.87932	D	0	-21.196	14.8509	0.70295	0.0:0.0:1.0:0.0	.	40;101;193	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	W	40;193;101	ENSP00000441992:C40W;ENSP00000356825:C193W;ENSP00000356822:C101W	ENSP00000356822:C101W	C	-	3	2	ADCY10	166135348	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.516000	0.45520	2.630000	0.89119	0.650000	0.86243	TGC	ADCY10	-	superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	59	0.00	0	G	NM_018417		167868724	167868724	-1	no_errors	ENST00000367851	ensembl	human	known	69_37n	missense	70	23.08	21	SNP	1.000	C
ADCY10	55811	genome.wustl.edu	37	1	167873126	167873126	+	Splice_Site	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:167873126C>T	ENST00000367851.4	-	3	436	c.252G>A	c.(250-252)gaG>gaA	p.E84E	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	84	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACACTTACTCTCCACTATTG	0.413																																						dbGAP											0													138.0	122.0	128.0					1																	167873126		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.253+1G>A	1.37:g.167873126C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.E84	ENST00000367851.4	37	c.252	CCDS1265.1	1																																																																																			ADCY10	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	ENSG00000143199		0.413	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	58	0.00	0	C	NM_018417	Silent	167873126	167873126	-1	no_errors	ENST00000367851	ensembl	human	known	69_37n	silent	89	20.54	23	SNP	1.000	T
ADCY10	55811	genome.wustl.edu	37	1	167873216	167873216	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:167873216C>T	ENST00000367851.4	-	3	346	c.162G>A	c.(160-162)atG>atA	p.M54I	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	54	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTCTCAGTCATTGCAGTAA	0.502																																						dbGAP											0													134.0	121.0	125.0					1																	167873216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.162G>A	1.37:g.167873216C>T	ENSP00000356825:p.Met54Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.M54I	ENST00000367851.4	37	c.162	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430565	0.83776	.	.	ENSG00000143199	ENST00000367851	T	0.80214	-1.35	5.58	5.58	0.84498	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.071989	0.64402	D	0.000016	T	0.66992	0.2846	N	0.17723	0.515	0.31305	N	0.6878299999999999	P	0.44195	0.828	P	0.47251	0.542	T	0.72643	-0.4231	9	0.45353	T	0.12	-30.4992	15.0744	0.72066	0.0:1.0:0.0:0.0	.	54	Q96PN6	ADCYA_HUMAN	I	54	ENSP00000356825:M54I	ENSP00000356825:M54I	M	-	3	0	ADCY10	166139840	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.764000	0.47613	2.611000	0.88343	0.655000	0.94253	ATG	ADCY10	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	ENSG00000143199		0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	65	0.00	0	C	NM_018417		167873216	167873216	-1	no_errors	ENST00000367851	ensembl	human	known	69_37n	missense	99	25.93	35	SNP	1.000	T
ADCY9	115	genome.wustl.edu	37	16	4164034	4164034	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:4164034G>C	ENST00000294016.3	-	2	1948	c.1410C>G	c.(1408-1410)atC>atG	p.I470M		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	470	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGATGGCCTTGATCATGCCCA	0.612																																						dbGAP											0													92.0	97.0	95.0					16																	4164034		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1410C>G	16.37:g.4164034G>C	ENSP00000294016:p.Ile470Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I470M	ENST00000294016.3	37	c.1410	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147819	0.37923	.	.	ENSG00000162104	ENST00000294016	T	0.81330	-1.48	5.28	-2.42	0.06542	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	M	0.64567	1.98	0.48452	D	0.999657	D	0.61080	0.989	D	0.64877	0.93	T	0.82190	-0.0580	10	0.54805	T	0.06	.	11.5012	0.50439	0.1348:0.0:0.7507:0.1144	.	470	O60503	ADCY9_HUMAN	M	470	ENSP00000294016:I470M	ENSP00000294016:I470M	I	-	3	3	ADCY9	4104035	0.981000	0.34729	0.970000	0.41538	0.978000	0.69477	0.089000	0.15002	-0.268000	0.09312	-0.410000	0.06199	ATC	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000162104		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	43	0.00	0	G			4164034	4164034	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.959	C
AGPAT6	137964	genome.wustl.edu	37	8	41476329	41476329	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:41476329G>A	ENST00000396987.3	+	11	2107	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	394					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CATGACTAGAGAGGTGAGTGC	0.562																																						dbGAP											0													162.0	141.0	148.0					8																	41476329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.1180G>A	8.37:g.41476329G>A	ENSP00000380184:p.Glu394Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V89	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.E394K	ENST00000396987.3	37	c.1180	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628063	0.46944	.	.	ENSG00000158669	ENST00000396987	D	0.93307	-3.2	5.56	3.74	0.42951	.	0.269272	0.43110	D	0.000606	D	0.84497	0.5485	N	0.17474	0.49	0.38428	D	0.94637	B	0.02656	0.0	B	0.04013	0.001	T	0.75294	-0.3368	10	0.12430	T	0.62	.	9.6056	0.39632	0.0776:0.3926:0.5298:0.0	.	394	Q86UL3	GPAT4_HUMAN	K	394	ENSP00000380184:E394K	ENSP00000380184:E394K	E	+	1	0	AGPAT6	41595486	1.000000	0.71417	0.991000	0.47740	0.876000	0.50452	2.606000	0.46291	0.672000	0.31204	0.655000	0.94253	GAG	AGPAT6	-	NULL	ENSG00000158669		0.562	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1	105	0.00	0	G	NM_178819		41476329	41476329	+1	no_errors	ENST00000396987	ensembl	human	known	69_37n	missense	36	65.05	67	SNP	0.960	A
AHCY	191	genome.wustl.edu	37	20	32881939	32881939	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr20:32881939G>C	ENST00000217426.2	-	3	320	c.243C>G	c.(241-243)atC>atG	p.I81M	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Missense_Mutation_p.I53M	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	81					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGTGGAGAAGATGTTGCAGC	0.557																																						dbGAP											0													54.0	46.0	49.0					20																	32881939		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.243C>G	20.37:g.32881939G>C	ENSP00000217426:p.Ile81Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.I81M	ENST00000217426.2	37	c.243	CCDS13233.1	20	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945631	0.53079	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.82711	-1.64;-1.64	5.04	3.04	0.35103	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.090906	0.85682	D	0.000000	D	0.92133	0.7506	H	0.96111	3.77	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	D	0.91386	0.5131	10	0.87932	D	0	.	6.6254	0.22826	0.1453:0.0:0.6796:0.1751	.	81	P23526	SAHH_HUMAN	M	81;53	ENSP00000217426:I81M;ENSP00000442820:I53M	ENSP00000217426:I81M	I	-	3	3	AHCY	32345600	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.366000	0.44204	1.250000	0.43966	-0.268000	0.10319	ATC	AHCY	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000101444		0.557	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2	35	0.00	0	G	NM_000687		32881939	32881939	-1	no_errors	ENST00000217426	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	C
AK3	50808	genome.wustl.edu	37	9	4713067	4713067	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:4713067C>T	ENST00000381809.3	-	5	823	c.593G>A	c.(592-594)gGa>gAa	p.G198E	AK3_ENST00000447596.4_Missense_Mutation_p.G158E|AK3_ENST00000359883.2_Missense_Mutation_p.G128E	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	196					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GGTTTCTGTTCCGGAGAATGT	0.393																																						dbGAP											0													123.0	116.0	119.0					9																	4713067		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.593G>A	9.37:g.4713067C>T	ENSP00000371230:p.Gly198Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.G198E	ENST00000381809.3	37	c.593	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047769	0.93740	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	T;D;T	0.81739	0.89;-1.53;0.89	5.47	5.47	0.80525	.	0.048567	0.85682	N	0.000000	D	0.91630	0.7355	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77004	0.969;0.989	D	0.92833	0.6282	10	0.87932	D	0	-17.6398	19.3251	0.94258	0.0:1.0:0.0:0.0	.	158;198	E7ET30;Q9UIJ7	.;KAD3_HUMAN	E	198;128;128;158	ENSP00000371230:G198E;ENSP00000352948:G128E;ENSP00000413933:G158E	ENSP00000352948:G128E	G	-	2	0	AK3	4703067	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.274000	0.78538	2.570000	0.86706	0.655000	0.94253	GGA	AK3	-	tigrfam_Adenyl_kin_sub	ENSG00000147853		0.393	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1	118	0.00	0	C	NM_016282		4713067	4713067	-1	no_errors	ENST00000381809	ensembl	human	known	69_37n	missense	115	16.67	23	SNP	1.000	T
ALPPL2	251	genome.wustl.edu	37	2	233271846	233271846	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:233271846G>A	ENST00000295453.3	+	2	199	c.147G>A	c.(145-147)caG>caA	p.Q49Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	49					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	AGCCTGCACAGACAGCCGCCA	0.672																																						dbGAP											0													63.0	76.0	71.0					2																	233271846		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.147G>A	2.37:g.233271846G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.Q49	ENST00000295453.3	37	c.147	CCDS2491.1	2																																																																																			ALPPL2	-	superfamily_Alkaline_phosphatase_core	ENSG00000163286		0.672	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPPL2	HGNC	protein_coding	OTTHUMT00000257034.2	52	0.00	0	G	NM_031313		233271846	233271846	+1	no_errors	ENST00000295453	ensembl	human	known	69_37n	silent	38	32.14	18	SNP	0.000	A
AMOT	154796	genome.wustl.edu	37	X	112058767	112058767	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:112058767C>T	ENST00000524145.1	-	3	1285	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Missense_Mutation_p.G404E|AMOT_ENST00000371958.1_Missense_Mutation_p.G172E|AMOT_ENST00000371962.1_Missense_Mutation_p.G172E			Q4VCS5	AMOT_HUMAN	angiomotin	404					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATAGGCTTCTCCTGgctgctg	0.572																																						dbGAP											0													57.0	51.0	53.0					X																	112058767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1211G>A	X.37:g.112058767C>T	ENSP00000429013:p.Gly404Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.G404E	ENST00000524145.1	37	c.1211	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262203	0.59431	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.34	4.46	0.54185	.	0.244680	0.34555	N	0.003864	T	0.11495	0.0280	L	0.44542	1.39	0.39207	D	0.963248	P	0.46706	0.883	B	0.42827	0.399	T	0.05084	-1.0907	10	0.02654	T	1	-2.388	11.8256	0.52265	0.1748:0.8252:0.0:0.0	.	404	Q4VCS5	AMOT_HUMAN	E	404;172;404;172	ENSP00000361027:G404E;ENSP00000361030:G172E;ENSP00000429013:G404E;ENSP00000361026:G172E	ENSP00000361026:G172E	G	-	2	0	AMOT	111945423	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	2.508000	0.45450	1.207000	0.43291	0.600000	0.82982	GGA	AMOT	-	NULL	ENSG00000126016		0.572	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	64	0.00	0	C	NM_133265		112058767	112058767	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	1.000	T
ANXA1	301	genome.wustl.edu	37	9	75775762	75775762	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:75775762C>T	ENST00000376911.1	+	5	1310	c.428C>T	c.(427-429)tCa>tTa	p.S143L	ANXA1_ENST00000257497.6_Missense_Mutation_p.S143L			P04083	ANXA1_HUMAN	annexin A1	143					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ATTTTGGCATCAAGAACTAAC	0.348																																						dbGAP											0													155.0	163.0	160.0					9																	75775762		2203	4300	6503	-	-	-	SO:0001583	missense	0			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.428C>T	9.37:g.75775762C>T	ENSP00000366109:p.Ser143Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.S143L	ENST00000376911.1	37	c.428	CCDS6645.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.572582	0.96553	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.03860	3.78;3.78;3.78	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.180367	0.50627	D	0.000105	T	0.22898	0.0553	M	0.82716	2.605	0.58432	D	0.999999	D	0.55605	0.972	P	0.58172	0.834	T	0.00162	-1.1970	10	0.87932	D	0	.	20.1916	0.98230	0.0:1.0:0.0:0.0	.	143	P04083	ANXA1_HUMAN	L	143;154;143	ENSP00000257497:S143L;ENSP00000412489:S154L;ENSP00000366109:S143L	ENSP00000257497:S143L	S	+	2	0	ANXA1	74965582	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.081000	0.76844	2.770000	0.95276	0.655000	0.94253	TCA	ANXA1	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin	ENSG00000135046		0.348	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	HGNC	protein_coding	OTTHUMT00000052665.1	99	0.00	0	C	NM_000700		75775762	75775762	+1	no_errors	ENST00000257497	ensembl	human	known	69_37n	missense	68	37.04	40	SNP	1.000	T
APBB1	322	genome.wustl.edu	37	11	6432496	6432496	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:6432496G>A	ENST00000609360.1	-	2	181	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	APBB1_ENST00000299402.6_Silent_p.L28L|APBB1_ENST00000311051.3_Silent_p.L28L|APBB1_ENST00000389906.2_Silent_p.L28L	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	28					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCAGCGTGCAGAGGCAGGGGT	0.647																																					GBM(147;1810 2556 5672 39622)	dbGAP											0													95.0	94.0	94.0					11																	6432496		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.82C>T	11.37:g.6432496G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.L28	ENST00000609360.1	37	c.82		11																																																																																			APBB1	-	NULL	ENSG00000166313		0.647	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	27	0.00	0	G	NM_001164		6432496	6432496	-1	no_errors	ENST00000389906	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	0.999	A
APH1A	51107	genome.wustl.edu	37	1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:150241120G>A	ENST00000369109.3	-	1	279	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R31C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647																																						dbGAP											0													20.0	26.0	24.0					1																	150241120		1883	4097	5980	-	-	-	SO:0001583	missense	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.91C>T	1.37:g.150241120G>A	ENSP00000358105:p.Arg31Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	pfam_Aph-1	p.R31C	ENST00000369109.3	37	c.91	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955280	0.73902	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.99	4.99	0.66335	.	0.134854	0.45126	D	0.000388	T	0.64897	0.2640	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.998;0.999;1.0	D;P;P;D;D	0.69824	0.966;0.667;0.906;0.943;0.961	T	0.71337	-0.4623	10	0.87932	D	0	-5.2281	10.8073	0.46524	0.0:0.0:0.8115:0.1885	.	31;31;31;31;31	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	C	31	ENSP00000358105:R31C;ENSP00000353380:R31C;ENSP00000397473:R31C;ENSP00000236017:R31C	ENSP00000236017:R31C	R	-	1	0	APH1A	148507744	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.551000	0.45820	2.586000	0.87340	0.561000	0.74099	CGC	APH1A	-	pfam_Aph-1	ENSG00000117362		0.647	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	24	0.00	0	G	NM_016022		150241120	150241120	-1	no_errors	ENST00000369109	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	1.000	A
APOBR	55911	genome.wustl.edu	37	16	28507415	28507417	+	Intron	DEL	GGA	GGA	-	rs148114931|rs365499		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:28507415_28507417delGGA	ENST00000431282.1	+	2	1058				CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Intron|APOBR_ENST00000564831.1_In_Frame_Del_p.E353del|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCTCAGGAGGGGAGGAGGCCGGG	0.704																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1048+5GGA>-	16.37:g.28507418_28507420delGGA		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	NULL	p.E353in_frame_del	ENST00000431282.1	37	c.1053_1055		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.704	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		27	0.00	0	GGA	NM_182804		28507415	28507417	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	in_frame_del	20	25.93	7	DEL	0.000:0.005:0.010	-
ARFIP2	23647	genome.wustl.edu	37	11	6500132	6500132	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:6500132C>T	ENST00000254584.2	-	5	456	c.373G>A	c.(373-375)Gag>Aag	p.E125K	ARFIP2_ENST00000423813.2_Missense_Mutation_p.E87K|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000445086.2_Missense_Mutation_p.E40K|ARFIP2_ENST00000396777.3_Missense_Mutation_p.E125K|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000525235.1_Missense_Mutation_p.E125K	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	125	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCTCTAGCTCCAGGTCCACA	0.542																																					Melanoma(119;796 1674 9049 20480 24794)	dbGAP											0													89.0	65.0	73.0					11																	6500132		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.373G>A	11.37:g.6500132C>T	ENSP00000254584:p.Glu125Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.E125K	ENST00000254584.2	37	c.373	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427915	0.83667	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.85	5.85	0.93711	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.85130	0.997;0.938;0.994	D	0.91287	0.5056	10	0.72032	D	0.01	.	19.751	0.96268	0.0:1.0:0.0:0.0	.	158;40;125	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	K	125;125;40;87;125	ENSP00000254584:E125K;ENSP00000379998:E125K;ENSP00000391427:E40K;ENSP00000398375:E87K;ENSP00000434124:E125K	ENSP00000254584:E125K	E	-	1	0	ARFIP2	6456708	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.978000	0.70501	2.779000	0.95612	0.491000	0.48974	GAG	ARFIP2	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	ENSG00000132254		0.542	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	35	0.00	0	C	NM_012402		6500132	6500132	-1	no_errors	ENST00000254584	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27087558	27087558	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:27087558C>G	ENST00000324856.7	+	5	2503	c.2132C>G	c.(2131-2133)tCa>tGa	p.S711*	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S711*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S328*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	711					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGTCTCGCTCAGGACCACTC	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													60.0	55.0	57.0					1																	27087558		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2132C>G	1.37:g.27087558C>G	ENSP00000320485:p.Ser711*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S711*	ENST00000324856.7	37	c.2132	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.659766	0.98419	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.77	5.77	0.91146	.	0.128017	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.2837	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	711;711;328	.	ENSP00000320485:S711X	S	+	2	0	ARID1A	26960145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	TCA	ARID1A	-	NULL	ENSG00000117713		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	54	0.00	0	C	NM_139135		27087558	27087558	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	nonsense	40	40.30	27	SNP	1.000	G
ARHGEF11	9826	genome.wustl.edu	37	1	156917169	156917169	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:156917169C>T	ENST00000361409.2	-	25	3037	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Silent_p.K181K|ARHGEF11_ENST00000368194.3_Silent_p.K805K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	765	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTTCTCCTTCTTCATTCGCT	0.582																																						dbGAP											0													52.0	60.0	58.0					1																	156917169		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2295G>A	1.37:g.156917169C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.K805	ENST00000361409.2	37	c.2415	CCDS1162.1	1																																																																																			ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000132694		0.582	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	47	0.00	0	C	NM_198236		156917169	156917169	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	silent	61	24.69	20	SNP	0.998	T
ARMC4	55130	genome.wustl.edu	37	10	28270402	28270402	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:28270402G>C	ENST00000305242.5	-	7	1021	c.929C>G	c.(928-930)tCt>tGt	p.S310C	ARMC4_ENST00000239715.3_Missense_Mutation_p.S167C|ARMC4_ENST00000537576.1_Missense_Mutation_p.S2C|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	310					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TACCAATTTAGACATATTTTC	0.279																																						dbGAP											0													57.0	62.0	60.0					10																	28270402		2202	4294	6496	-	-	-	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.929C>G	10.37:g.28270402G>C	ENSP00000306410:p.Ser310Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.S310C	ENST00000305242.5	37	c.929	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546402	0.45383	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.48836	0.86;1.39;0.8;0.8	5.01	4.04	0.47022	.	0.725571	0.13317	N	0.397012	T	0.58192	0.2105	M	0.67953	2.075	0.24707	N	0.993224	D	0.65815	0.995	P	0.52672	0.706	T	0.52808	-0.8526	10	0.66056	D	0.02	-16.3828	13.2728	0.60170	0.0:0.0:0.7328:0.2672	.	310	Q5T2S8	ARMC4_HUMAN	C	2;310;2;204;167	ENSP00000443208:S2C;ENSP00000306410:S310C;ENSP00000398155:S204C;ENSP00000239715:S167C	ENSP00000239715:S167C	S	-	2	0	ARMC4	28310408	0.960000	0.32886	1.000000	0.80357	0.634000	0.38068	1.374000	0.34283	2.497000	0.84241	0.655000	0.94253	TCT	ARMC4	-	superfamily_GSKIP/TIF31_domain	ENSG00000169126		0.279	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	79	0.00	0	G	NM_018076		28270402	28270402	-1	no_errors	ENST00000305242	ensembl	human	known	69_37n	missense	46	36.11	26	SNP	0.883	C
ASPM	259266	genome.wustl.edu	37	1	197091641	197091641	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:197091641C>T	ENST00000367409.4	-	14	3731	c.3475G>A	c.(3475-3477)Gac>Aac	p.D1159N	ASPM_ENST00000367408.1_Missense_Mutation_p.D409N|ASPM_ENST00000294732.7_Missense_Mutation_p.D1159N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1159	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATATAGCGTCAAATGGCACA	0.413																																						dbGAP											0													103.0	89.0	94.0					1																	197091641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3475G>A	1.37:g.197091641C>T	ENSP00000356379:p.Asp1159Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.D1159N	ENST00000367409.4	37	c.3475	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531406	0.27387	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59502	0.26;0.26;0.26	5.96	3.06	0.35304	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (4);	0.361089	0.29508	N	0.011943	T	0.41488	0.1161	L	0.33189	0.99	0.09310	N	1	B;B	0.13145	0.006;0.007	B;B	0.14578	0.007;0.011	T	0.23583	-1.0184	10	0.32370	T	0.25	.	6.8738	0.24135	0.0:0.6778:0.1271:0.1951	.	1159;1159	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	1159;1159;409	ENSP00000356379:D1159N;ENSP00000294732:D1159N;ENSP00000356378:D409N	ENSP00000294732:D1159N	D	-	1	0	ASPM	195358264	0.277000	0.24220	0.238000	0.24106	0.612000	0.37316	1.440000	0.35024	0.406000	0.25560	-0.482000	0.04802	GAC	ASPM	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,pfscan_CH-domain	ENSG00000066279		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	62	0.00	0	C	NM_018136		197091641	197091641	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	72	27.27	27	SNP	0.137	T
ASXL3	80816	genome.wustl.edu	37	18	31319214	31319214	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr18:31319214G>C	ENST00000269197.5	+	11	1846	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	616	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTTTCTTCTGAGAGCCCAGA	0.478																																						dbGAP											0													47.0	48.0	48.0					18																	31319214		1878	4105	5983	-	-	-	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1846G>C	18.37:g.31319214G>C	ENSP00000269197:p.Glu616Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E616Q	ENST00000269197.5	37	c.1846	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085357	0.55861	.	.	ENSG00000141431	ENST00000269197	T	0.20738	2.05	5.46	4.56	0.56223	.	0.481828	0.22112	N	0.064472	T	0.33411	0.0862	L	0.47716	1.5	0.30457	N	0.77463	D	0.64830	0.994	P	0.55055	0.767	T	0.23404	-1.0189	10	0.45353	T	0.12	.	16.3276	0.82990	0.0:0.1324:0.8676:0.0	.	616	Q9C0F0	ASXL3_HUMAN	Q	616	ENSP00000269197:E616Q	ENSP00000269197:E616Q	E	+	1	0	ASXL3	29573212	1.000000	0.71417	0.981000	0.43875	0.810000	0.45777	4.996000	0.63914	1.380000	0.46344	0.460000	0.39030	GAG	ASXL3	-	NULL	ENSG00000141431		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	46	0.00	0	G			31319214	31319214	+1	no_errors	ENST00000269197	ensembl	human	known	69_37n	missense	34	41.38	24	SNP	0.993	C
ATF6	22926	genome.wustl.edu	37	1	161821621	161821621	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:161821621C>T	ENST00000367942.3	+	11	1496	c.1429C>T	c.(1429-1431)Ctc>Ttc	p.L477F	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	477	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AACAGAGTCTCTCAGGTGAGT	0.413																																						dbGAP											0													202.0	183.0	189.0					1																	161821621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1429C>T	1.37:g.161821621C>T	ENSP00000356919:p.Leu477Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.L477F	ENST00000367942.3	37	c.1429	CCDS1235.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540007	0.85917	.	.	ENSG00000118217	ENST00000367942	T	0.19806	2.12	5.73	5.73	0.89815	.	0.200789	0.43919	D	0.000502	T	0.40119	0.1104	M	0.78049	2.395	0.43982	D	0.996678	D;D	0.89917	0.999;1.0	D;D	0.71414	0.965;0.973	T	0.10870	-1.0611	9	0.42905	T	0.14	-0.6595	17.3895	0.87426	0.0:1.0:0.0:0.0	.	477;478	P18850;Q59H30	ATF6A_HUMAN;.	F	477	ENSP00000356919:L477F	ENSP00000356919:L477F	L	+	1	0	ATF6	160088245	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.494000	0.53273	2.708000	0.92522	0.563000	0.77884	CTC	ATF6	-	NULL	ENSG00000118217		0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	HGNC	protein_coding	OTTHUMT00000060304.2	85	0.00	0	C	NM_007348		161821621	161821621	+1	no_errors	ENST00000367942	ensembl	human	known	69_37n	missense	132	23.70	41	SNP	1.000	T
ATG2A	23130	genome.wustl.edu	37	11	64679447	64679447	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:64679447G>A	ENST00000377264.3	-	9	1207	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	ATG2A_ENST00000421419.2_Silent_p.F365F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	365					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCATGGAGAAGAAGAGGTCTG	0.632																																						dbGAP											0													72.0	62.0	66.0					11																	64679447		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1095C>T	11.37:g.64679447G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.L167F	ENST00000377264.3	37	c.499	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117668	0.20877	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.42	3.5	0.40072	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51803	-0.8659	4	.	.	.	.	6.8174	0.23839	0.2071:0.0:0.7929:0.0	.	.	.	.	F	167	.	.	L	-	1	0	ATG2A	64436023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.952000	0.40343	1.238000	0.43771	0.561000	0.74099	CTT	ATG2A	-	NULL	ENSG00000110046		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	56	0.00	0	G	NM_015104		64679447	64679447	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418259	ensembl	human	novel	69_37n	missense	52	28.77	21	SNP	1.000	A
ATP6V1C1	528	genome.wustl.edu	37	8	104053148	104053148	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:104053148G>A	ENST00000395862.3	+	2	243	c.84G>A	c.(82-84)aaG>aaA	p.K28K	ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Silent_p.K28K|ATP6V1C1_ENST00000521514.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	28					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CAACTTCAAAGAACAATAATC	0.418																																						dbGAP											0													126.0	121.0	122.0					8																	104053148		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.84G>A	8.37:g.104053148G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_ATPase_V1-cplx_csu	p.K28	ENST00000395862.3	37	c.84	CCDS6296.1	8																																																																																			ATP6V1C1	-	pfam_ATPase_V1-cplx_csu	ENSG00000155097		0.418	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1C1	HGNC	protein_coding	OTTHUMT00000380101.1	68	0.00	0	G	NM_001695		104053148	104053148	+1	no_errors	ENST00000395862	ensembl	human	known	69_37n	silent	55	32.10	26	SNP	0.998	A
ATRX	546	genome.wustl.edu	37	X	76938592	76938592	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:76938592G>C	ENST00000373344.5	-	9	2370	c.2156C>G	c.(2155-2157)tCt>tGt	p.S719C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S681C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	719					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGATTGCTTAGATTTTGGCAA	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											154.0	153.0	153.0					X																	76938592		2203	4295	6498	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2156C>G	X.37:g.76938592G>C	ENSP00000362441:p.Ser719Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S719C	ENST00000373344.5	37	c.2156	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039820	0.02013	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92965	-3.11;-3.14	5.74	3.87	0.44632	.	0.287492	0.28754	N	0.014244	D	0.84437	0.5472	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;B	0.12630	0.002;0.006;0.003;0.002	B;B;B;B	0.13407	0.002;0.009;0.005;0.002	T	0.73043	-0.4107	10	0.38643	T	0.18	-4.389	7.3754	0.26825	0.0753:0.1274:0.6802:0.117	.	719;651;681;719	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	C	719;681;646	ENSP00000362441:S719C;ENSP00000378967:S681C	ENSP00000362441:S719C	S	-	2	0	ATRX	76825248	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.429000	0.44758	1.180000	0.42898	0.513000	0.50165	TCT	ATRX	-	NULL	ENSG00000085224		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	107	0.00	0	G	NM_000489		76938592	76938592	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	78	27.78	30	SNP	0.104	C
ATXN7	6314	genome.wustl.edu	37	3	63976462	63976462	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:63976462G>C	ENST00000295900.6	+	11	2159	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	ATXN7_ENST00000538065.1_Missense_Mutation_p.D537H|ATXN7_ENST00000398590.3_Missense_Mutation_p.D537H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D392H|ATXN7_ENST00000487717.1_Missense_Mutation_p.D537H	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	537					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TTACGTGTTTGACTCCAGGTG	0.532																																						dbGAP											0													145.0	144.0	145.0					3																	63976462		2078	4214	6292	-	-	-	SO:0001583	missense	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1609G>C	3.37:g.63976462G>C	ENSP00000295900:p.Asp537His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	pfam_SCA7_dom	p.D537H	ENST00000295900.6	37	c.1609	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.239386	0.95240	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75531	-0.3285	10	0.87932	D	0	-16.4813	19.686	0.95979	0.0:0.0:1.0:0.0	.	392;537;537	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	H	537;537;537;537;392	ENSP00000381590:D537H;ENSP00000295900:D537H;ENSP00000420234:D537H;ENSP00000439585:D537H;ENSP00000428277:D392H	ENSP00000295900:D537H	D	+	1	0	ATXN7	63951502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.728000	0.93425	0.655000	0.94253	GAC	ATXN7	-	NULL	ENSG00000163635		0.532	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	83	0.00	0	G	NM_000333		63976462	63976462	+1	no_errors	ENST00000398590	ensembl	human	known	69_37n	missense	106	22.63	31	SNP	1.000	C
BAZ1A	11177	genome.wustl.edu	37	14	35331501	35331501	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:35331501G>A	ENST00000382422.2	-	2	468	c.141C>T	c.(139-141)tgC>tgT	p.C47C	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000358716.4_Silent_p.C47C|BAZ1A_ENST00000360310.1_Silent_p.C47C			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	47	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAAGGCTGTTGCACAGAATGG	0.368																																						dbGAP											0													93.0	95.0	94.0					14																	35331501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.141C>T	14.37:g.35331501G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.C47	ENST00000382422.2	37	c.141	CCDS9651.1	14																																																																																			BAZ1A	-	pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146	ENSG00000198604		0.368	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	44	0.00	0	G			35331501	35331501	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	silent	49	15.52	9	SNP	1.000	A
BIRC6	57448	genome.wustl.edu	37	2	32694469	32694469	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:32694469C>T	ENST00000421745.2	+	30	6268	c.6134C>T	c.(6133-6135)tCt>tTt	p.S2045F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2045					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGGACACTCTGTTCCTGCA	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													96.0	92.0	94.0					2																	32694469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6134C>T	2.37:g.32694469C>T	ENSP00000393596:p.Ser2045Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S2045F	ENST00000421745.2	37	c.6134	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766342	0.90020	.	.	ENSG00000115760	ENST00000421745	T	0.75704	-0.96	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	L	0.34521	1.04	0.58432	D	0.999999	D	0.61080	0.989	P	0.56916	0.809	T	0.80476	-0.1366	10	0.66056	D	0.02	.	18.7067	0.91641	0.0:1.0:0.0:0.0	.	2045	Q9NR09	BIRC6_HUMAN	F	2045	ENSP00000393596:S2045F	ENSP00000393596:S2045F	S	+	2	0	BIRC6	32547973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.963000	0.70372	2.488000	0.83962	0.585000	0.79938	TCT	BIRC6	-	NULL	ENSG00000115760		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	133	0.00	0	C	NM_016252		32694469	32694469	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	134	15.19	24	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32768600	32768600	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:32768600G>T	ENST00000421745.2	+	62	12718	c.12584G>T	c.(12583-12585)gGa>gTa	p.G4195V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4195					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGATGATGGAGAAGGAAGT	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													85.0	81.0	82.0					2																	32768600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12584G>T	2.37:g.32768600G>T	ENSP00000393596:p.Gly4195Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.G4195V	ENST00000421745.2	37	c.12584	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744595	0.89663	.	.	ENSG00000115760	ENST00000421745	T	0.75938	-0.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86351	0.1711	10	0.87932	D	0	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	4195	Q9NR09	BIRC6_HUMAN	V	4195	ENSP00000393596:G4195V	ENSP00000393596:G4195V	G	+	2	0	BIRC6	32622104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.598000	0.87819	0.650000	0.86243	GGA	BIRC6	-	NULL	ENSG00000115760		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	67	0.00	0	G	NM_016252		32768600	32768600	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	46	39.47	30	SNP	1.000	T
BLM	641	genome.wustl.edu	37	15	91293291	91293291	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:91293291G>C	ENST00000355112.3	+	3	911	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	BLM_ENST00000560509.1_Missense_Mutation_p.E265Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	265					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTTGGAAGATGAAAGAGGTAA	0.348			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													dbGAP	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													32.0	33.0	33.0					15																	91293291		2188	4294	6482	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.793G>C	15.37:g.91293291G>C	ENSP00000347232:p.Glu265Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E265Q	ENST00000355112.3	37	c.793	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797290	0.70567	.	.	ENSG00000197299	ENST00000355112	T	0.53423	0.62	5.55	4.63	0.57726	.	0.711329	0.13949	N	0.351642	T	0.37919	0.1021	L	0.34521	1.04	0.35940	D	0.833121	P;P	0.40000	0.698;0.698	B;B	0.38378	0.272;0.272	T	0.48603	-0.9021	10	0.56958	D	0.05	-18.9498	10.2875	0.43575	0.0908:0.0:0.9092:0.0	.	265;265	B2RAN0;P54132	.;BLM_HUMAN	Q	265	ENSP00000347232:E265Q	ENSP00000347232:E265Q	E	+	1	0	BLM	89094295	0.690000	0.27699	0.845000	0.33349	0.853000	0.48598	0.768000	0.26590	1.353000	0.45828	0.650000	0.86243	GAA	BLM	-	NULL	ENSG00000197299		0.348	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	16	0.00	0	G			91293291	91293291	+1	no_errors	ENST00000355112	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.933	C
BRWD1	54014	genome.wustl.edu	37	21	40665954	40665954	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr21:40665954G>A	ENST00000333229.2	-	8	941	c.614C>T	c.(613-615)tCa>tTa	p.S205L	BRWD1_ENST00000342449.3_Missense_Mutation_p.S205L|BRWD1_ENST00000380800.3_Missense_Mutation_p.S205L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	205					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGTCATCTGAACCCTAAGA	0.294																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													57.0	55.0	56.0					21																	40665954		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.614C>T	21.37:g.40665954G>A	ENSP00000330753:p.Ser205Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S205L	ENST00000333229.2	37	c.614	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000335	0.93227	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.74421	-0.84;-0.84;-0.84	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.112637	0.39834	N	0.001260	D	0.92270	0.7548	H	0.98849	4.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.971	D	0.95530	0.8602	10	0.87932	D	0	-6.9019	18.5955	0.91228	0.0:0.0:1.0:0.0	.	205;205	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	205	ENSP00000330753:S205L;ENSP00000344333:S205L;ENSP00000370178:S205L	ENSP00000330753:S205L	S	-	2	0	BRWD1	39587824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.695000	0.98691	2.388000	0.81334	0.655000	0.94253	TCA	BRWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000185658		0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	43	0.00	0	G	NM_033656		40665954	40665954	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	21	43.24	16	SNP	1.000	A
C10orf32-ASMT	100528007	genome.wustl.edu	37	10	104614094	104614094	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:104614094G>A	ENST00000299353.6	+	1	66	c.51G>A	c.(49-51)gtG>gtA	p.V17V	C10orf32_ENST00000339834.5_Silent_p.V17V|C10orf32_ENST00000369883.3_Silent_p.V17V					C10orf32-ASMT readthrough (NMD candidate)																		GTCAGTCCGTGAAGGGGCTTC	0.602																																						dbGAP											0													52.0	39.0	43.0					10																	104614094		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					10q24.32	2013-09-25			ENSG00000270316	ENSG00000270316			49183	other	readthrough							Standard	NR_037644		Approved				OTTHUMG00000184175	ENST00000299353.6:c.51G>A	10.37:g.104614094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V17	ENST00000299353.6	37	c.51	CCDS7542.2	10																																																																																			C10orf32	-	NULL	ENSG00000166275		0.602	C10orf32-ASMT-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C10orf32	HGNC	protein_coding	OTTHUMT00000468206.2	12	0.00	0	G			104614094	104614094	+1	no_errors	ENST00000299353	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	1.000	A
C12orf40	283461	genome.wustl.edu	37	12	40110611	40110611	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:40110611G>C	ENST00000324616.5	+	12	1619	c.1465G>C	c.(1465-1467)Gac>Cac	p.D489H		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	489										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGACCAACAGACAGCTGTTT	0.313																																						dbGAP											0													148.0	142.0	144.0					12																	40110611		1830	4077	5907	-	-	-	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1465G>C	12.37:g.40110611G>C	ENSP00000317671:p.Asp489His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.D489H	ENST00000324616.5	37	c.1465	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330643	0.41297	.	.	ENSG00000180116	ENST00000324616	T	0.54279	0.58	4.13	4.13	0.48395	.	0.636054	0.14462	N	0.318118	T	0.60650	0.2285	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.61362	-0.7078	10	0.87932	D	0	.	12.1839	0.54227	0.0:0.0:1.0:0.0	.	489	Q86WS4	CL040_HUMAN	H	489	ENSP00000317671:D489H	ENSP00000317671:D489H	D	+	1	0	C12orf40	38396878	0.995000	0.38212	0.893000	0.35052	0.265000	0.26407	4.566000	0.60843	2.600000	0.87896	0.650000	0.86243	GAC	C12orf40	-	NULL	ENSG00000180116		0.313	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	146	0.00	0	G	NM_173599		40110611	40110611	+1	no_errors	ENST00000324616	ensembl	human	known	69_37n	missense	123	37.56	74	SNP	0.920	C
C17orf82	388407	genome.wustl.edu	37	17	59489466	59489466	+	Nonsense_Mutation	SNP	G	G	T	rs368263585		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:59489466G>T	ENST00000335108.2	+	1	355	c.130G>T	c.(130-132)Gag>Tag	p.E44*	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	44										cervix(1)|lung(1)	2						CCTTGGCCCCGAGGTGCGGAG	0.701											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													22.0	25.0	24.0					17																	59489466		2198	4297	6495	-	-	-	SO:0001587	stop_gained	0			BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.130G>T	17.37:g.59489466G>T	ENSP00000335229:p.Glu44*	Somatic	1038	WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E44*	ENST00000335108.2	37	c.130	CCDS11628.1	17	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419415	0.62622	.	.	ENSG00000187013	ENST00000335108	.	.	.	3.36	-5.99	0.02213	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.2343	0.04004	0.1998:0.4424:0.2135:0.1443	.	.	.	.	X	44	.	ENSP00000335229:E44X	E	+	1	0	C17orf82	56844248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.951000	0.01529	-1.358000	0.02177	-2.137000	0.00340	GAG	C17orf82	-	NULL	ENSG00000187013		0.701	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf82	HGNC	protein_coding	OTTHUMT00000449646.1	26	0.00	0	G	NM_203425		59489466	59489466	+1	no_errors	ENST00000335108	ensembl	human	known	69_37n	nonsense	27	25.00	9	SNP	0.000	T
C17orf99	100141515	genome.wustl.edu	37	17	76161980	76161980	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:76161980G>A	ENST00000340363.5	+	5	706	c.651G>A	c.(649-651)caG>caA	p.Q217Q	C17orf99_ENST00000451352.3_3'UTR|SYNGR2_ENST00000225777.3_5'Flank|SYNGR2_ENST00000585591.1_5'Flank|SYNGR2_ENST00000589711.1_5'Flank|SYNGR2_ENST00000588282.1_5'Flank	NM_001163075.1	NP_001156547.1	Q6UX52	CQ099_HUMAN	chromosome 17 open reading frame 99	217						extracellular region (GO:0005576)											GTGGTGACCAGAAGATGGAGG	0.592																																						dbGAP											0													23.0	29.0	27.0					17																	76161980		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AY358510	CCDS54171.1	17q25.3	2012-10-23			ENSG00000187997	ENSG00000187997			34490	protein-coding gene	gene with protein product							Standard	NM_001163075		Approved	GLPG464, UNQ464	uc002jus.4	Q6UX52	OTTHUMG00000153871	ENST00000340363.5:c.651G>A	17.37:g.76161980G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.Q217	ENST00000340363.5	37	c.651	CCDS54171.1	17																																																																																			C17orf99	-	NULL	ENSG00000187997		0.592	C17orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf99	HGNC	protein_coding	OTTHUMT00000332775.1	40	0.00	0	G	NM_001163075		76161980	76161980	+1	no_errors	ENST00000340363	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.162	A
C2orf42	54980	genome.wustl.edu	37	2	70377562	70377562	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:70377562C>G	ENST00000264434.2	-	10	2030	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	C2orf42_ENST00000420306.1_Missense_Mutation_p.E551Q	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	551										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TCTTGGTACTCCGCCACATGC	0.507																																						dbGAP											0													90.0	91.0	91.0					2																	70377562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1651G>C	2.37:g.70377562C>G	ENSP00000264434:p.Glu551Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5G3|Q9H629	Missense_Mutation	SNP	NULL	p.E551Q	ENST00000264434.2	37	c.1651	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993704	0.54041	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	T;T	0.47869	0.83;0.83	5.8	5.8	0.92144	.	0.450683	0.19806	N	0.105654	T	0.32406	0.0828	N	0.08118	0	0.21020	N	0.999801	B	0.19817	0.039	B	0.23018	0.043	T	0.19811	-1.0294	10	0.36615	T	0.2	-8.1764	17.5632	0.87912	0.0:1.0:0.0:0.0	.	551	Q9NWW7	CB042_HUMAN	Q	551	ENSP00000264434:E551Q;ENSP00000404515:E551Q	ENSP00000264434:E551Q	E	-	1	0	C2orf42	70231066	0.940000	0.31905	0.356000	0.25785	0.938000	0.57974	3.714000	0.54889	2.758000	0.94735	0.563000	0.77884	GAG	C2orf42	-	NULL	ENSG00000115998		0.507	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	43	0.00	0	C	NM_017880		70377562	70377562	-1	no_errors	ENST00000264434	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	0.552	G
C4orf3	401152	genome.wustl.edu	37	4	120221737	120221737	+	5'UTR	SNP	A	A	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:120221737A>C	ENST00000504110.1	-	0	339				C4orf3_ENST00000399075.4_Missense_Mutation_p.L118R	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AAAATGCTTAAGTTCCCGGAC	0.622																																						dbGAP											0													61.0	64.0	63.0					4																	120221737		1934	4118	6052	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-47T>G	4.37:g.120221737A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6J203	Missense_Mutation	SNP	NULL	p.L118R	ENST00000504110.1	37	c.353	CCDS43266.1	4	.	.	.	.	.	.	.	.	.	.	A	12.55	1.973086	0.34848	.	.	ENSG00000164096	ENST00000399075	T	0.40225	1.04	3.81	-4.63	0.03359	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.39187	-0.9626	5	0.62326	D	0.03	.	1.3435	0.02159	0.4981:0.1458:0.2134:0.1427	.	.	.	.	R	118	ENSP00000382026:L118R	ENSP00000382026:L118R	L	-	2	0	C4orf3	120441185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.914000	0.04038	-0.734000	0.04843	-0.836000	0.03065	CTT	C4orf3	-	NULL	ENSG00000164096		0.622	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	41	0.00	0	A	NM_001001701		120221737	120221737	-1	no_errors	ENST00000399075	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	0.000	C
C5orf15	56951	genome.wustl.edu	37	5	133304255	133304255	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:133304255C>T	ENST00000231512.3	-	1	223	c.21G>A	c.(19-21)aaG>aaA	p.K7K	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	7						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCCTCATCCTCTTCGGGACGG	0.672																																						dbGAP											0													13.0	14.0	14.0					5																	133304255		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.21G>A	5.37:g.133304255C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD10|D3DQ92|Q9NRG2	Silent	SNP	NULL	p.K7	ENST00000231512.3	37	c.21	CCDS4167.1	5																																																																																			C5orf15	-	NULL	ENSG00000113583		0.672	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf15	HGNC	protein_coding	OTTHUMT00000251175.1	8	0.00	0	C	NM_020199		133304255	133304255	-1	no_errors	ENST00000231512	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	0.128	T
CABLES1	91768	genome.wustl.edu	37	18	20837322	20837322	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr18:20837322G>C	ENST00000256925.7	+	10	1893	c.1893G>C	c.(1891-1893)caG>caC	p.Q631H	TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.Q366H|CABLES1_ENST00000400473.2_Missense_Mutation_p.Q304H|RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	631					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGCTGGTCCAGAGTTCCTAGC	0.522																																						dbGAP											0													53.0	53.0	53.0					18																	20837322		1913	4122	6035	-	-	-	SO:0001583	missense	0			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1893G>C	18.37:g.20837322G>C	ENSP00000256925:p.Gln631His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.Q631H	ENST00000256925.7	37	c.1893	CCDS42417.1	18	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089033	0.55968	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.50001	0.84;0.76;0.82	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.79784	0.991;0.993	T	0.53556	-0.8422	10	0.35671	T	0.21	-15.8781	13.6651	0.62389	0.0739:0.0:0.9261:0.0	.	366;631	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	H	304;631;366	ENSP00000383321:Q304H;ENSP00000256925:Q631H;ENSP00000413851:Q366H	ENSP00000256925:Q631H	Q	+	3	2	CABLES1	19091320	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.687000	0.54692	2.885000	0.99019	0.655000	0.94253	CAG	CABLES1	-	pirsf_Cdk5/c-Abl_linker_Cables	ENSG00000134508		0.522	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	HGNC	protein_coding	OTTHUMT00000445198.2	40	0.00	0	G	NM_138375		20837322	20837322	+1	no_errors	ENST00000256925	ensembl	human	known	69_37n	missense	19	54.76	23	SNP	1.000	C
CADM1	23705	genome.wustl.edu	37	11	115111079	115111079	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:115111079G>A	ENST00000452722.3	-	2	206	c.186C>T	c.(184-186)atC>atT	p.I62I	CADM1_ENST00000331581.6_Silent_p.I62I|CADM1_ENST00000542447.2_Silent_p.I62I|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.I62I|CADM1_ENST00000536727.1_Silent_p.I62I	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTTGGCAACTGATGGTCGCAA	0.448																																						dbGAP											0													109.0	99.0	103.0					11																	115111079		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.186C>T	11.37:g.115111079G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.Q61*	ENST00000452722.3	37	c.181	CCDS8373.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.05|10.05	1.243197|1.243197	0.22796|0.22796	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000543249	.|.	.|.	.|.	5.97|5.97	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71787	.|0.3381	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69506	.|-0.5127	.|4	.|.	.|.	.|.	.|.	16.0128|16.0128	0.80413|0.80413	0.0:0.0:0.8649:0.1351|0.0:0.0:0.8649:0.1351	.|.	.|.	.|.	.|.	X|L	61|46	.|.	.|.	Q|S	-|-	1|2	0|0	CADM1|CADM1	114616289|114616289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.189000|5.189000	0.65098|0.65098	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	CAG|TCA	CADM1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000182985		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	67	0.00	0	G	NM_014333		115111079	115111079	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000545380	ensembl	human	novel	69_37n	nonsense	51	34.62	27	SNP	1.000	A
CAND2	23066	genome.wustl.edu	37	3	12849815	12849815	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:12849815C>G	ENST00000456430.2	+	4	515	c.474C>G	c.(472-474)ctC>ctG	p.L158L	CAND2_ENST00000295989.5_Intron|CAND2_ENST00000466558.1_3'UTR	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	158					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGACATCCTCTCTGACATGC	0.587																																					GBM(43;676 868 1633 6395 37496)	dbGAP											0													48.0	45.0	46.0					3																	12849815		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.474C>G	3.37:g.12849815C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGM9|E9KL24	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L158	ENST00000456430.2	37	c.474	CCDS54554.1	3																																																																																			CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.587	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	18	0.00	0	C	XM_371617		12849815	12849815	+1	no_errors	ENST00000456430	ensembl	human	known	69_37n	silent	25	34.21	13	SNP	0.514	G
CAPN10	11132	genome.wustl.edu	37	2	241528870	241528870	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:241528870G>C	ENST00000391984.2	+	2	448	c.252G>C	c.(250-252)aaG>aaC	p.K84N	CAPN10_ENST00000270364.7_Missense_Mutation_p.K84N|CAPN10_ENST00000404753.3_Missense_Mutation_p.K84N|CAPN10_ENST00000354082.4_Missense_Mutation_p.K84N|CAPN10_ENST00000352879.4_Intron|CAPN10-AS1_ENST00000567819.1_RNA|CAPN10_ENST00000391982.2_Missense_Mutation_p.K84N	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	84	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CGCTGCAGAAGAGCAGGCACC	0.642																																						dbGAP											0													52.0	61.0	58.0					2																	241528870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.252G>C	2.37:g.241528870G>C	ENSP00000375844:p.Lys84Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	p.K84N	ENST00000391984.2	37	c.252	CCDS42838.1	2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281628	0.40394	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000270364;ENST00000354082	T;T;T;T;T	0.42513	2.39;2.39;2.39;0.97;2.39	4.54	3.65	0.41850	Peptidase C2, calpain, catalytic domain (3);	0.121011	0.53938	D	0.000055	T	0.48021	0.1477	L	0.33710	1.025	0.41878	D	0.990302	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.81914	0.995;0.988;0.989;0.978	T	0.47911	-0.9080	10	0.72032	D	0.01	.	6.7678	0.23576	0.2142:0.0:0.7858:0.0	.	84;84;84;84	B7Z6G3;Q9HC96-7;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	N	84	ENSP00000375844:K84N;ENSP00000375842:K84N;ENSP00000384422:K84N;ENSP00000270364:K84N;ENSP00000270362:K84N	ENSP00000270361:K84N	K	+	3	2	CAPN10	241177543	1.000000	0.71417	0.961000	0.40146	0.835000	0.47333	2.397000	0.44477	0.901000	0.36495	0.655000	0.94253	AAG	CAPN10	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000142330		0.642	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	30	0.00	0	G	NM_023083		241528870	241528870	+1	no_errors	ENST00000391984	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	0.979	C
CARM1	10498	genome.wustl.edu	37	19	11031600	11031600	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:11031600C>T	ENST00000327064.4	+	13	1705	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	CARM1_ENST00000344150.4_Silent_p.L505L	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	505	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCTACAACCTCAGCAGCGGGA	0.677																																						dbGAP											0													78.0	82.0	81.0					19																	11031600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1515C>T	19.37:g.11031600C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN38	Silent	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.L505	ENST00000327064.4	37	c.1515	CCDS12250.1	19																																																																																			CARM1	-	NULL	ENSG00000142453		0.677	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	58	0.00	0	C	XM_032719		11031600	11031600	+1	no_errors	ENST00000327064	ensembl	human	known	69_37n	silent	44	32.31	21	SNP	1.000	T
CCNI2	645121	genome.wustl.edu	37	5	132086586	132086586	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:132086586G>A	ENST00000378731.1	+	4	722	c.671G>A	c.(670-672)gGc>gAc	p.G224D	SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378719.2_3'UTR	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	224					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCACTATGGCTCTGACTAT	0.438																																						dbGAP											0													125.0	124.0	124.0					5																	132086586		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.671G>A	5.37:g.132086586G>A	ENSP00000368005:p.Gly224Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G224D	ENST00000378731.1	37	c.671	CCDS34236.1	5	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055337	0.55325	.	.	ENSG00000205089	ENST00000378731	T	0.07216	3.21	5.34	4.46	0.54185	Cyclin, N-terminal (1);Cyclin-like (3);	0.053111	0.85682	D	0.000000	T	0.11623	0.0283	N	0.05383	-0.06	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.771	D;D;B	0.85130	0.997;0.984;0.442	T	0.45833	-0.9234	10	0.17369	T	0.5	.	14.9235	0.70859	0.0726:0.0:0.9274:0.0	.	225;224;224	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	D	224	ENSP00000368005:G224D	ENSP00000368005:G224D	G	+	2	0	CCNI2	132114485	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.625000	0.54238	2.648000	0.89879	0.561000	0.74099	GGC	CCNI2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000205089		0.438	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CCNI2	HGNC	protein_coding	OTTHUMT00000132833.1	114	0.00	0	G	NM_001039780		132086586	132086586	+1	no_errors	ENST00000378731	ensembl	human	novel	69_37n	missense	80	34.43	42	SNP	1.000	A
CD27	939	genome.wustl.edu	37	12	6560131	6560131	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:6560131C>T	ENST00000266557.3	+	5	838	c.609C>T	c.(607-609)ttC>ttT	p.F203F	TAPBPL_ENST00000266556.7_5'Flank|TAPBPL_ENST00000544021.1_5'Flank|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	203					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TCCTTGTTTTCACCCTGGCCG	0.527																																						dbGAP											0													236.0	231.0	233.0					12																	6560131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.609C>T	12.37:g.6560131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDZ0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt,pfscan_TNFR/NGFR_Cys_rich_reg	p.F203	ENST00000266557.3	37	c.609	CCDS8545.1	12																																																																																			CD27	-	NULL	ENSG00000139193		0.527	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1	106	0.00	0	C			6560131	6560131	+1	no_errors	ENST00000266557	ensembl	human	known	69_37n	silent	127	15.33	23	SNP	0.287	T
CDC42BPB	9578	genome.wustl.edu	37	14	103429404	103429404	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:103429404C>T	ENST00000361246.2	-	20	3103	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTACCAGTATCTGCTCTGAAT	0.259																																						dbGAP											0													132.0	132.0	132.0					14																	103429404		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2815G>A	14.37:g.103429404C>T	ENSP00000355237:p.Asp939Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D939N	ENST00000361246.2	37	c.2815	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161823	0.57368	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.64803	-0.12	5.35	5.35	0.76521	Myotonic dystrophy protein kinase, coiled coil (2);	0.097074	0.64402	D	0.000001	T	0.61438	0.2347	L	0.40543	1.245	0.80722	D	1	B;B	0.23490	0.086;0.043	B;B	0.35353	0.201;0.189	T	0.56105	-0.8034	10	0.33141	T	0.24	.	19.4281	0.94754	0.0:1.0:0.0:0.0	.	939;939	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	N	939;76	ENSP00000355237:D939N	ENSP00000355237:D939N	D	-	1	0	CDC42BPB	102499157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.788000	0.69020	2.642000	0.89623	0.655000	0.94253	GAT	CDC42BPB	-	pfam_Myotonic_dystrophy_kinase_coil	ENSG00000198752		0.259	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	346	0.00	0	C	NM_006035		103429404	103429404	-1	no_errors	ENST00000361246	ensembl	human	known	69_37n	missense	346	15.61	64	SNP	1.000	T
CDC73	79577	genome.wustl.edu	37	1	193181198	193181198	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:193181198C>A	ENST00000367435.3	+	12	1218	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	345	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTCACAGTTTCTCAAGCAAGA	0.294																																						dbGAP											0													28.0	27.0	27.0					1																	193181198		2195	4295	6490	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1034C>A	1.37:g.193181198C>A	ENSP00000356405:p.Ser345Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.S345Y	ENST00000367435.3	37	c.1034	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725907	0.89298	.	.	ENSG00000134371	ENST00000367435	T	0.68903	-0.36	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.80542	-0.1336	10	0.66056	D	0.02	-12.4028	20.3206	0.98668	0.0:1.0:0.0:0.0	.	345	Q6P1J9	CDC73_HUMAN	Y	345	ENSP00000356405:S345Y	ENSP00000356405:S345Y	S	+	2	0	CDC73	191447821	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.701000	0.74624	2.809000	0.96659	0.655000	0.94253	TCT	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	64	0.00	0	C	NM_024529		193181198	193181198	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	1.000	A
CDH1	999	genome.wustl.edu	37	16	68844175	68844175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:68844175C>T	ENST00000261769.5	+	6	954	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q255*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	255	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.D254fs*9(1)|p.Q255*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTAACCGATCAGAATGACAA	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	6	Unknown(4)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	breast(6)											149.0	140.0	143.0					16																	68844175		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.763C>T	16.37:g.68844175C>T	ENSP00000261769:p.Gln255*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q255*	ENST00000261769.5	37	c.763	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735768	0.89482	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.22	5.22	0.72569	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	17.9295	0.88992	0.0:1.0:0.0:0.0	.	.	.	.	X	255	.	ENSP00000261769:Q255X	Q	+	1	0	CDH1	67401676	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.637000	0.54324	2.592000	0.87571	0.557000	0.71058	CAG	CDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	46	0.00	0	C	NM_004360		68844175	68844175	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	28	53.33	32	SNP	1.000	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123292327	123292327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:123292327C>A	ENST00000349780.4	-	8	933	c.754G>T	c.(754-756)Gag>Tag	p.E252*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E252*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E252*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E252*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	252					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GACACATTCTCATCAGGACAT	0.463																																						dbGAP											0													207.0	172.0	184.0					9																	123292327		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.754G>T	9.37:g.123292327C>A	ENSP00000343818:p.Glu252*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	pfam_Spindle_assoc	p.E252*	ENST00000349780.4	37	c.754	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.873420	0.97901	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313;ENST00000482047	.	.	.	5.03	5.03	0.67393	.	0.226724	0.30762	N	0.008922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	16.1474	0.81580	0.0:1.0:0.0:0.0	.	.	.	.	X	252;252;252;252;254;6	.	ENSP00000341695:E254X	E	-	1	0	CDK5RAP2	122332148	0.996000	0.38824	0.991000	0.47740	0.989000	0.77384	3.068000	0.50018	2.320000	0.78422	0.563000	0.77884	GAG	CDK5RAP2	-	NULL	ENSG00000136861		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	152	0.00	0	C	NM_018249		123292327	123292327	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	nonsense	109	45.23	90	SNP	1.000	A
CDKL1	8814	genome.wustl.edu	37	14	50862439	50862439	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:50862439G>A	ENST00000216378.2	-	2	795	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	CDKL1_ENST00000395834.1_Missense_Mutation_p.R51W|RP11-247L20.3_ENST00000556713.1_lincRNA|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R51W(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CGGATTTCCCGAAGGGCAATT	0.433																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											67.0	73.0	71.0					14																	50862439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.151C>T	14.37:g.50862439G>A	ENSP00000216378:p.Arg51Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3A4|Q6QUA0|Q8WXQ5	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.R51W	ENST00000216378.2	37	c.151		14	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416263	0.62511	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.53857	0.6;0.6	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.79470	0.4451	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.85794	0.1369	9	0.87932	D	0	.	16.5314	0.84361	0.0:0.0:1.0:0.0	.	240;50	Q00532-2;Q00532	.;CDKL1_HUMAN	W	51	ENSP00000379176:R51W;ENSP00000216378:R51W	ENSP00000216378:R51W	R	-	1	2	CDKL1	49932189	1.000000	0.71417	0.939000	0.37840	0.436000	0.31835	3.350000	0.52224	2.364000	0.80123	0.561000	0.74099	CGG	CDKL1	-	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	ENSG00000100490		0.433	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	CDKL1	HGNC	protein_coding	OTTHUMT00000382103.1	80	0.00	0	G			50862439	50862439	-1	no_errors	ENST00000395834	ensembl	human	known	69_37n	missense	45	32.84	22	SNP	1.000	A
CDKN1A	1026	genome.wustl.edu	37	6	36652171	36652171	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:36652171C>G	ENST00000405375.1	+	2	528	c.293C>G	c.(292-294)tCa>tGa	p.S98*	CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.S98*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.S98*|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.S132*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	98					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCTGGCACCTCACCTGCTCTG	0.672																																						dbGAP											0													32.0	32.0	32.0					6																	36652171		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.293C>G	6.37:g.36652171C>G	ENSP00000384849:p.Ser98*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14010|Q6FI05|Q9BUT4	Nonsense_Mutation	SNP	pfam_CDI	p.S132*	ENST00000405375.1	37	c.395	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253240	0.39797	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	.	.	.	5.23	5.23	0.72850	.	0.000000	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-11.3875	14.1752	0.65537	0.0:1.0:0.0:0.0	.	.	.	.	X	132;98;98;98	.	ENSP00000244741:S98X	S	+	2	0	CDKN1A	36760149	0.052000	0.20516	0.063000	0.19743	0.107000	0.19398	2.394000	0.44450	2.724000	0.93272	0.561000	0.74099	TCA	CDKN1A	-	NULL	ENSG00000124762		0.672	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	HGNC	protein_coding	OTTHUMT00000040354.1	23	0.00	0	C	NM_078467		36652171	36652171	+1	no_errors	ENST00000448526	ensembl	human	known	69_37n	nonsense	19	42.42	14	SNP	0.075	G
CELSR2	1952	genome.wustl.edu	37	1	109795620	109795620	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:109795620C>T	ENST00000271332.3	+	1	2980	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	973	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCTGGACATCTTCTCCGGGG	0.597																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													112.0	101.0	105.0					1																	109795620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2919C>T	1.37:g.109795620C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.I973	ENST00000271332.3	37	c.2919	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	31	0.00	0	C	NM_001408		109795620	109795620	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	21	41.67	15	SNP	1.000	T
CENPI	2491	genome.wustl.edu	37	X	100387249	100387249	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:100387249C>T	ENST00000372927.1	+	13	1635	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	CENPI_ENST00000423383.1_Missense_Mutation_p.S453L|CENPI_ENST00000218507.5_Missense_Mutation_p.S453L|CENPI_ENST00000372926.1_Missense_Mutation_p.S453L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	453					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGTTGTCGGTCACAGTTCCTT	0.403																																						dbGAP											0													188.0	176.0	180.0					X																	100387249		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1358C>T	X.37:g.100387249C>T	ENSP00000362018:p.Ser453Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.S453L	ENST00000372927.1	37	c.1358	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	c	21.1	4.103561	0.76983	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.76	4.9	0.64082	.	0.115721	0.64402	N	0.000010	T	0.74442	0.3717	M	0.74881	2.28	0.44816	D	0.99782	D;D	0.55800	0.973;0.973	P;P	0.58721	0.844;0.844	T	0.75288	-0.3370	9	0.44086	T	0.13	-3.9628	13.7114	0.62670	0.0:0.9242:0.0:0.0758	.	453;453	B4DZL4;Q92674	.;CENPI_HUMAN	L	453	.	ENSP00000218507:S453L	S	+	2	0	CENPI	100273905	1.000000	0.71417	0.946000	0.38457	0.838000	0.47535	3.775000	0.55349	1.180000	0.42898	0.506000	0.49869	TCA	CENPI	-	pfam_Centromere_CenpI	ENSG00000102384		0.403	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	121	0.00	0	C	NM_006733		100387249	100387249	+1	no_errors	ENST00000372927	ensembl	human	known	69_37n	missense	98	30.99	44	SNP	0.884	T
CEP104	9731	genome.wustl.edu	37	1	3740031	3740031	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:3740031G>C	ENST00000378230.3	-	19	2784	c.2460C>G	c.(2458-2460)ttC>ttG	p.F820L		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	820						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTCTTCCTTGAAAACAGCCT	0.547																																						dbGAP											0													191.0	165.0	174.0					1																	3740031		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2460C>G	1.37:g.3740031G>C	ENSP00000367476:p.Phe820Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Nonsense_Mutation	SNP	NULL	p.S117*	ENST00000378230.3	37	c.350	CCDS30571.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.770|5.770	0.326388|0.326388	0.10900|0.10900	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|.	0.26660|.	1.72|.	5.68|5.68	-11.4|-11.4	0.00090|0.00090	.|.	1.612960|.	0.03795|.	N|.	0.263419|.	T|.	0.07007|.	0.0178|.	N|N	0.00210|0.00210	-1.845|-1.845	0.09310|0.09310	N|N	0.999997|0.999997	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.46638|.	-0.9177|.	10|.	0.09590|.	T|.	0.72|.	.|.	14.2004|14.2004	0.65699|0.65699	0.0:0.4664:0.4267:0.1068|0.0:0.4664:0.4267:0.1068	.|.	820|.	O60308|.	CE104_HUMAN|.	L|X	820|117	ENSP00000367476:F820L|.	ENSP00000367476:F820L|.	F|S	-|-	3|2	2|0	CEP104|CEP104	3729891|3729891	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.942000|0.942000	0.58702|0.58702	-2.580000|-2.580000	0.00907|0.00907	-2.790000|-2.790000	0.00356|0.00356	-1.289000|-1.289000	0.01358|0.01358	TTC|TCA	CEP104	-	NULL	ENSG00000116198		0.547	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	134	0.00	0	G	NM_014704		3740031	3740031	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000438539	ensembl	human	known	69_37n	nonsense	79	37.80	48	SNP	0.000	C
CHIT1	1118	genome.wustl.edu	37	1	203186226	203186226	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:203186226C>G	ENST00000367229.1	-	11	1226	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.E389Q|CHIT1_ENST00000255427.3_Missense_Mutation_p.E379Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	398					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTTGGAACTTCAAGCTCTGGG	0.562											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													69.0	71.0	70.0					1																	203186226		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1192G>C	1.37:g.203186226C>G	ENSP00000356198:p.Glu398Gln	Somatic	2135	WXS	Illumina GAIIx	Phase_IV	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.E398Q	ENST00000367229.1	37	c.1192	CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	C	7.647	0.682051	0.14907	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06449	3.45;3.31;3.3	4.95	0.405	0.16361	.	1.529050	0.04074	N	0.308448	T	0.06781	0.0173	L	0.41236	1.265	0.09310	N	1	B;B;B	0.32800	0.048;0.385;0.07	B;B;B	0.34536	0.015;0.185;0.014	T	0.41378	-0.9512	10	0.23891	T	0.37	-5.9191	6.0058	0.19544	0.0:0.5934:0.237:0.1697	.	369;389;398	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	Q	398;379;389	ENSP00000356198:E398Q;ENSP00000255427:E379Q;ENSP00000438078:E389Q	ENSP00000255427:E379Q	E	-	1	0	CHIT1	201452849	0.935000	0.31712	0.001000	0.08648	0.086000	0.17979	2.732000	0.47352	0.482000	0.27582	0.650000	0.86243	GAA	CHIT1	-	NULL	ENSG00000133063		0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	HGNC	protein_coding	OTTHUMT00000100275.2	40	0.00	0	C	NM_003465		203186226	203186226	-1	no_errors	ENST00000367229	ensembl	human	known	69_37n	missense	44	27.87	17	SNP	0.000	G
CIT	11113	genome.wustl.edu	37	12	120139493	120139493	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:120139493G>A	ENST00000261833.7	-	42	5404	c.5352C>T	c.(5350-5352)ttC>ttT	p.F1784F	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.F1826F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1784	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGAGACAGGGAAGCTGTTGG	0.572																																						dbGAP											0													92.0	84.0	87.0					12																	120139493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5352C>T	12.37:g.120139493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Pkinase_C,superfamily_HR1_rho-bd,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S1397F	ENST00000261833.7	37	c.4190	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363359	0.24684	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.52	4.64	0.57946	.	.	.	.	.	T	0.70202	0.3197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69335	-0.5172	4	.	.	.	.	14.3688	0.66826	0.0711:0.0:0.9289:0.0	.	.	.	.	F	1397	.	.	S	-	2	0	CIT	118623876	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.955000	0.40372	1.342000	0.45619	0.650000	0.86243	TCC	CIT	-	pfam_Citron,smart_Citron	ENSG00000122966		0.572	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	85	0.00	0	G	NM_007174		120139493	120139493	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000392520	ensembl	human	novel	69_37n	missense	72	21.51	20	SNP	1.000	A
CKMT1A	548596	genome.wustl.edu	37	15	43990929	43990929	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:43990929G>C	ENST00000413453.2	+	8	1626	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.D368H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	368	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CGGTGTCTTTGATATTTCTAA	0.498																																						dbGAP											0													98.0	90.0	93.0					15																	43990929		2199	4297	6496	-	-	-	SO:0001583	missense	0			BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1102G>C	15.37:g.43990929G>C	ENSP00000406577:p.Asp368His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.D368H	ENST00000413453.2	37	c.1102	CCDS32217.1	15	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782966	0.70222	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.14144	2.53;2.53	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21008	-1.0258	7	0.87932	D	0	-10.52	15.9786	0.80089	0.0:0.0:1.0:0.0	.	.	.	.	H	399;368;368	ENSP00000413165:D368H;ENSP00000406577:D368H	ENSP00000406577:D368H	D	+	1	0	CKMT1A	41778221	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	9.672000	0.98629	1.728000	0.51552	0.502000	0.49764	GAT	CKMT1A	-	pfam_ATP-guanido_PTrfase_cat	ENSG00000223572		0.498	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT1A	HGNC	protein_coding	OTTHUMT00000133136.1	63	0.00	0	G			43990929	43990929	+1	no_errors	ENST00000413453	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	1.000	C
CLASP2	23122	genome.wustl.edu	37	3	33540163	33540163	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:33540163C>A	ENST00000468888.2	-	39	4551	c.4505G>T	c.(4504-4506)gGa>gTa	p.G1502V	CLASP2_ENST00000359576.5_Missense_Mutation_p.G1493V|CLASP2_ENST00000480013.1_Missense_Mutation_p.G1281V|CLASP2_ENST00000399362.4_Missense_Mutation_p.G1501V|CLASP2_ENST00000461133.3_Missense_Mutation_p.G1261V|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000307312.7_Missense_Mutation_p.G983V			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1282					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCAGCTCCTCCAGAACCTGT	0.428																																						dbGAP											0													167.0	154.0	158.0					3																	33540163		1911	4127	6038	-	-	-	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4505G>T	3.37:g.33540163C>A	ENSP00000419974:p.Gly1502Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G1501V	ENST00000468888.2	37	c.4502		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.43|17.43	3.388586|3.388586	0.61956|0.61956	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133|ENST00000487553	T;T;T|.	0.18960|.	2.18;2.18;2.18|.	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	0.151028|.	0.64402|.	D|.	0.000009|.	T|T	0.54775|0.54775	0.1879|0.1879	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	P;B|.	0.48016|.	0.904;0.294|.	P;B|.	0.46917|.	0.531;0.057|.	T|T	0.50363|0.50363	-0.8837|-0.8837	10|5	0.62326|.	D|.	0.03|.	-13.0654|-13.0654	14.1375|14.1375	0.65297|0.65297	0.0:0.8446:0.1554:0.0|0.0:0.8446:0.1554:0.0	.|.	1493;1501|.	F5H604;E7ERI8|.	.;.|.	V|C	1502;1501;1493;983;1281;1261|207	ENSP00000419974:G1502V;ENSP00000382297:G1501V;ENSP00000352581:G1493V|.	ENSP00000304743:G983V|.	G|W	-|-	2|3	0|0	CLASP2|CLASP2	33515167|33515167	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.930000|0.930000	0.56654|0.56654	1.992000|1.992000	0.40737|0.40737	1.244000|1.244000	0.43870|0.43870	0.655000|0.655000	0.94253|0.94253	GGA|TGG	CLASP2	-	NULL	ENSG00000163539		0.428	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	78	0.00	0	C	NM_001207044		33540163	33540163	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	missense	71	40.83	49	SNP	1.000	A
CNOT1	23019	genome.wustl.edu	37	16	58589354	58589354	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:58589354C>T	ENST00000317147.5	-	21	3024	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	CNOT1_ENST00000441024.2_Missense_Mutation_p.E898K|CNOT1_ENST00000569240.1_Missense_Mutation_p.E893K|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	898	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAACGATATTCTTCAAACAAG	0.368																																						dbGAP											0													152.0	148.0	150.0					16																	58589354		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2692G>A	16.37:g.58589354C>T	ENSP00000320949:p.Glu898Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.E898K	ENST00000317147.5	37	c.2692	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.761385	0.96906	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	D;T	0.86562	-2.14;-1.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	0.974;1.0;1.0	D;D;D	0.91635	0.969;0.996;0.999	D	0.96141	0.9100	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	898;898;893	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	K	898;327;893;898	ENSP00000320949:E898K;ENSP00000413113:E898K	ENSP00000320949:E898K	E	-	1	0	CNOT1	57146855	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GAA	CNOT1	-	NULL	ENSG00000125107		0.368	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	74	0.00	0	C	NM_016284		58589354	58589354	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	1.000	T
COX6A1	1337	genome.wustl.edu	37	12	120875960	120875960	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:120875960C>T	ENST00000229379.2	+	1	68	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	AL021546.6_ENST00000551806.1_5'Flank	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	11					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGTTTCTCGGCTGCTGGG	0.647																																						dbGAP											0													23.0	24.0	24.0					12																	120875960		2202	4300	6502	-	-	-	SO:0001583	missense	0			X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.31C>T	12.37:g.120875960C>T	ENSP00000229379:p.Arg11Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R500|O43714|Q32Q37	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a	p.R11W	ENST00000229379.2	37	c.31	CCDS9197.1	12	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075315	0.36662	.	.	ENSG00000111775	ENST00000229379	.	.	.	4.65	-9.19	0.00685	.	0.731043	0.14181	N	0.336023	T	0.21145	0.0509	L	0.47716	1.5	0.09310	N	0.999999	D	0.62365	0.991	B	0.40410	0.328	T	0.11916	-1.0568	9	0.87932	D	0	-1.0658	6.8397	0.23955	0.2084:0.5428:0.173:0.0758	.	11	P12074	CX6A1_HUMAN	W	11	.	ENSP00000229379:R11W	R	+	1	2	COX6A1	119360343	0.007000	0.16637	0.000000	0.03702	0.018000	0.09664	-0.293000	0.08320	-2.035000	0.00923	-1.303000	0.01326	CGG	COX6A1	-	pirsf_Cyt_c_oxidase_su6a	ENSG00000111775		0.647	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6A1	HGNC	protein_coding	OTTHUMT00000108984.3	49	0.00	0	C	NM_004373		120875960	120875960	+1	no_errors	ENST00000229379	ensembl	human	known	69_37n	missense	42	33.33	21	SNP	0.000	T
CSDE1	7812	genome.wustl.edu	37	1	115272884	115272884	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:115272884C>G	ENST00000358528.4	-	12	1777	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000534699.1_Missense_Mutation_p.E451Q|CSDE1_ENST00000438362.2_Missense_Mutation_p.E497Q|CSDE1_ENST00000530886.1_Missense_Mutation_p.E321Q|CSDE1_ENST00000339438.6_Missense_Mutation_p.E420Q|CSDE1_ENST00000369530.1_Missense_Mutation_p.E466Q|CSDE1_ENST00000261443.5_Missense_Mutation_p.E420Q	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	451	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTACCTTCTCTTTGCCTTTA	0.373																																						dbGAP											0													140.0	144.0	143.0					1																	115272884		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1351G>C	1.37:g.115272884C>G	ENSP00000351329:p.Glu451Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.E466Q	ENST00000358528.4	37	c.1396	CCDS30812.1	1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929853	0.73327	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	5.85	0.93711	.	0.051241	0.85682	D	0.000000	T	0.56790	0.2009	L	0.60455	1.87	0.80722	D	1	P;B;B	0.40909	0.732;0.247;0.447	B;B;B	0.41466	0.358;0.153;0.136	T	0.62234	-0.6897	9	0.59425	D	0.04	-8.5967	20.1731	0.98165	0.0:1.0:0.0:0.0	.	466;451;497	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Q	420;497;451;420;321;466;451	.	ENSP00000261443:E420Q	E	-	1	0	CSDE1	115074407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.448000	0.80631	2.768000	0.95171	0.655000	0.94253	GAG	CSDE1	-	NULL	ENSG00000009307		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	97	0.00	0	C	NM_007158		115272884	115272884	-1	no_errors	ENST00000369530	ensembl	human	known	69_37n	missense	82	33.33	41	SNP	1.000	G
CUBN	8029	genome.wustl.edu	37	10	17126443	17126443	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:17126443C>T	ENST00000377833.4	-	17	2193	c.2128G>A	c.(2128-2130)Ggg>Agg	p.G710R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	710	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGTAGTTCCCACCACAACGC	0.507																																						dbGAP											0													64.0	53.0	57.0					10																	17126443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2128G>A	10.37:g.17126443C>T	ENSP00000367064:p.Gly710Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.G710R	ENST00000377833.4	37	c.2128	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787439	0.90367	.	.	ENSG00000107611	ENST00000377833	T	0.35605	1.3	5.69	5.69	0.88448	CUB (5);	0.000000	0.43747	D	0.000525	T	0.66127	0.2758	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69982	-0.4997	10	0.87932	D	0	.	19.4184	0.94710	0.0:1.0:0.0:0.0	.	710	O60494	CUBN_HUMAN	R	710	ENSP00000367064:G710R	ENSP00000367064:G710R	G	-	1	0	CUBN	17166449	1.000000	0.71417	0.990000	0.47175	0.731000	0.41821	7.297000	0.78799	2.671000	0.90904	0.655000	0.94253	GGG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	53	0.00	0	C	NM_001081		17126443	17126443	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	33	40.00	22	SNP	1.000	T
SMIM10	644538	genome.wustl.edu	37	X	134125278	134125278	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:134125278C>T	ENST00000330288.4	+	1	311	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_001163438.1	NP_001156910.1	Q96HG1	SIM10_HUMAN	small integral membrane protein 10	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L51L(2)									GCACGCTGCTCACCTTCTTCG	0.622																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											36.0	35.0	35.0					X																	134125278		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS55502.1	Xq26.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000184785	ENSG00000184785			41913	protein-coding gene	gene with protein product			"""chromosome X open reading frame 69"""	CXorf69			Standard	NM_001163438		Approved		uc011mvs.2	Q96HG1		ENST00000330288.4:c.153C>T	X.37:g.134125278C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L51	ENST00000330288.4	37	c.153	CCDS55502.1	X																																																																																			CXorf69	-	NULL	ENSG00000184785		0.622	SMIM10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf69	HGNC	protein_coding		39	0.00	0	C	NM_001163438		134125278	134125278	+1	no_errors	ENST00000330288	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	0.998	T
DAB1	1600	genome.wustl.edu	37	1	57480804	57480804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:57480804G>C	ENST00000371231.1	-	13	1329	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	DAB1_ENST00000371234.4_Nonsense_Mutation_p.S399*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Nonsense_Mutation_p.S399*|DAB1_ENST00000439789.2_Nonsense_Mutation_p.S313*|DAB1_ENST00000420954.2_Nonsense_Mutation_p.S397*|DAB1_ENST00000414851.2_Nonsense_Mutation_p.S381*			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	432					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGTGGACTTGACCTGGTGGA	0.587																																						dbGAP											0													77.0	72.0	73.0					1																	57480804		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1295C>G	1.37:g.57480804G>C	ENSP00000360275:p.Ser432*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Nonsense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.S432*	ENST00000371231.1	37	c.1295		1	.	.	.	.	.	.	.	.	.	.	G	35	5.475000	0.96291	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	.	.	.	5.54	5.54	0.83059	.	0.247077	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-24.875	19.6787	0.95950	0.0:0.0:1.0:0.0	.	.	.	.	X	399;399;399;397;381;313;432	.	ENSP00000360275:S432X	S	-	2	0	DAB1	57253392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.144000	0.94629	2.890000	0.99128	0.650000	0.86243	TCA	DAB1	-	NULL	ENSG00000173406		0.587	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	68	0.00	0	G	NM_021080		57480804	57480804	-1	no_errors	ENST00000371231	ensembl	human	known	69_37n	nonsense	52	41.30	38	SNP	1.000	C
DCAF6	55827	genome.wustl.edu	37	1	168044617	168044617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:168044617G>T	ENST00000312263.6	+	19	2731	c.2527G>T	c.(2527-2529)Gag>Tag	p.E843*	DCAF6_ENST00000432587.2_Nonsense_Mutation_p.E903*|DCAF6_ENST00000367843.3_Nonsense_Mutation_p.E863*|DCAF6_ENST00000367840.3_Nonsense_Mutation_p.E934*	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	843					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGACCGGTTGGAGGGTGACAG	0.323																																						dbGAP											0													75.0	75.0	75.0					1																	168044617		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2527G>T	1.37:g.168044617G>T	ENSP00000311949:p.Glu843*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.E934*	ENST00000312263.6	37	c.2800	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.036913	0.99044	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	863;903;843;934	.	ENSP00000311949:E843X	E	+	1	0	DCAF6	166311241	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.539000	0.90637	2.941000	0.99782	0.655000	0.94253	GAG	DCAF6	-	NULL	ENSG00000143164		0.323	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	134	0.00	0	G	NM_018442		168044617	168044617	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	nonsense	140	30.00	60	SNP	1.000	T
CYB5R1	51706	genome.wustl.edu	37	1	202934584	202934584	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:202934584C>A	ENST00000367249.4	-	5	464	c.390G>T	c.(388-390)aaG>aaT	p.K130N	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	130	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	ACTGAGACATCTTCCCTCCCT	0.498																																						dbGAP											0													159.0	144.0	149.0					1																	202934584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.390G>T	1.37:g.202934584C>A	ENSP00000356218:p.Lys130Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.K130N	ENST00000367249.4	37	c.390	CCDS1431.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.823953|4.823953	0.90873|0.90873	.|.	.|.	ENSG00000159348|ENSG00000159348	ENST00000367249|ENST00000446185	D|.	0.85556|.	-2.0|.	5.93|5.93	5.02|5.02	0.67125|0.67125	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76919|0.76919	0.4055|0.4055	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.79441|0.79441	-0.1802|-0.1802	10|5	0.48119|.	T|.	0.1|.	-1.4743|-1.4743	12.7578|12.7578	0.57345|0.57345	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	130|.	Q9UHQ9|.	NB5R1_HUMAN|.	N|I	130|62	ENSP00000356218:K130N|.	ENSP00000356218:K130N|.	K|R	-|-	3|2	2|0	CYB5R1|CYB5R1	201201207|201201207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.737000|3.737000	0.55060|0.55060	1.521000|1.521000	0.48983|0.48983	0.591000|0.591000	0.81541|0.81541	AAG|AGA	CYB5R1	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000159348		0.498	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	59	0.00	0	C	NM_016243		202934584	202934584	-1	no_errors	ENST00000367249	ensembl	human	known	69_37n	missense	64	23.81	20	SNP	1.000	A
DCHS1	8642	genome.wustl.edu	37	11	6645007	6645007	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:6645007G>A	ENST00000299441.3	-	21	8311	c.7900C>T	c.(7900-7902)Cat>Tat	p.H2634Y	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2634	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGAGGCCATGAGGGCCAGGG	0.597																																						dbGAP											0													116.0	104.0	108.0					11																	6645007		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7900C>T	11.37:g.6645007G>A	ENSP00000299441:p.His2634Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H2634Y	ENST00000299441.3	37	c.7900	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736878	0.30774	.	.	ENSG00000166341	ENST00000299441	T	0.53640	0.61	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000286	T	0.28134	0.0694	N	0.05351	-0.065	0.35065	D	0.761973	B	0.21381	0.055	B	0.19148	0.024	T	0.29761	-1.0001	10	0.33940	T	0.23	.	12.9376	0.58325	0.0:0.0:0.8381:0.1619	.	2634	Q96JQ0	PCD16_HUMAN	Y	2634	ENSP00000299441:H2634Y	ENSP00000299441:H2634Y	H	-	1	0	DCHS1	6601583	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.964000	0.56780	2.822000	0.97130	0.650000	0.86243	CAT	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	36	0.00	0	G	NM_003737		6645007	6645007	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	A
DCHS2	54798	genome.wustl.edu	37	4	155219212	155219212	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:155219212G>C	ENST00000357232.4	-	18	4888	c.4889C>G	c.(4888-4890)tCt>tGt	p.S1630C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1630	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTATCAATAGAAAACATTGA	0.418																																						dbGAP											0													69.0	71.0	70.0					4																	155219212		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4889C>G	4.37:g.155219212G>C	ENSP00000349768:p.Ser1630Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S1630C	ENST00000357232.4	37	c.4889	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187880	0.38609	.	.	ENSG00000197410	ENST00000357232	T	0.62941	-0.01	5.96	5.04	0.67666	Cadherin (3);Cadherin-like (1);	0.242658	0.35615	N	0.003099	T	0.73552	0.3601	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	P	0.54270	0.747	T	0.76732	-0.2851	10	0.59425	D	0.04	.	11.7168	0.51659	0.0:0.0:0.6232:0.3768	.	1630	Q6V1P9	PCD23_HUMAN	C	1630	ENSP00000349768:S1630C	ENSP00000349768:S1630C	S	-	2	0	DCHS2	155438662	0.999000	0.42202	0.993000	0.49108	0.074000	0.17049	2.128000	0.42045	2.823000	0.97156	0.650000	0.86243	TCT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	54	0.00	0	G	NM_001142552		155219212	155219212	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	1.000	C
DCP1A	55802	genome.wustl.edu	37	3	53321675	53321675	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:53321675C>T	ENST00000607628.1	-	10	1787	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	DCP1A_ENST00000606822.1_Missense_Mutation_p.D522N|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.D558N|RN7SL821P_ENST00000579907.1_RNA	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	558					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AAGCTGGAATCATTCTAGAAG	0.383																																						dbGAP											0													138.0	133.0	134.0					3																	53321675		1886	4111	5997	-	-	-	SO:0001583	missense	0			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1678G>A	3.37:g.53321675C>T	ENSP00000475920:p.Asp560Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000607628.1	37	NULL		3																																																																																			DCP1A	-	-	ENSG00000162290		0.383	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding		72	0.00	0	C	NM_018403		53321675	53321675	-1	no_errors	ENST00000294241	ensembl	human	known	69_37n	rna	75	27.88	29	SNP	1.000	T
DENND5A	23258	genome.wustl.edu	37	11	9202526	9202526	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:9202526G>A	ENST00000328194.3	-	6	1563	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F	DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_Missense_Mutation_p.L415F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	415					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATGCCATGAGAATCTCAGAG	0.507																																						dbGAP											0													76.0	79.0	78.0					11																	9202526		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1243C>T	11.37:g.9202526G>A	ENSP00000328524:p.Leu415Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.L415F	ENST00000328194.3	37	c.1243	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794918	0.90453	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.57907	0.37;0.37	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.79784	0.935;0.993	T	0.74523	-0.3637	10	0.56958	D	0.05	-15.5525	18.9552	0.92655	0.0:0.0:1.0:0.0	.	415;415	E9PS91;Q6IQ26	.;DEN5A_HUMAN	F	415	ENSP00000328524:L415F;ENSP00000435866:L415F	ENSP00000328524:L415F	L	-	1	0	DENND5A	9159102	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.810000	0.99221	2.550000	0.86006	0.563000	0.77884	CTC	DENND5A	-	NULL	ENSG00000184014		0.507	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	48	0.00	0	G	NM_015213		9202526	9202526	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	96213049	96213049	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:96213049C>T	ENST00000324765.8	+	16	2184	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	DIAPH2_ENST00000373061.3_Missense_Mutation_p.P613S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P613S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P609S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P613S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	613	FH1.|Poly-Pro.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGGAGGAGTTCCTCCTCCCCC	0.478																																						dbGAP											0													60.0	58.0	59.0					X																	96213049		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1837C>T	X.37:g.96213049C>T	ENSP00000321348:p.Pro613Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.P613S	ENST00000324765.8	37	c.1837	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546516	0.13312	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.12	1.69	0.24217	Actin-binding FH2 (1);	0.703681	0.12994	N	0.422212	T	0.23727	0.0574	M	0.77616	2.38	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.10450	0.002;0.005	T	0.38607	-0.9653	10	0.18710	T	0.47	.	2.3735	0.04336	0.1231:0.4847:0.1834:0.2089	.	613;613	O60879;O60879-2	DIAP2_HUMAN;.	S	613;609;613;613;613;620	ENSP00000362152:P613S;ENSP00000362145:P609S;ENSP00000348082:P613S;ENSP00000362140:P613S;ENSP00000321348:P613S	ENSP00000321348:P613S	P	+	1	0	DIAPH2	96099705	0.137000	0.22531	0.000000	0.03702	0.004000	0.04260	2.982000	0.49337	-0.085000	0.12573	-0.215000	0.12644	CCT	DIAPH2	-	superfamily_FH2_actin-bd	ENSG00000147202		0.478	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	74	0.00	0	C	NM_006729, NM_007309		96213049	96213049	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	46	38.67	29	SNP	0.170	T
DNAH12	201625	genome.wustl.edu	37	3	57335775	57335775	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:57335775C>A	ENST00000351747.2	-	55	8958	c.8778G>T	c.(8776-8778)ttG>ttT	p.L2926F	DNAH12_ENST00000344804.4_Missense_Mutation_p.L513F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2926	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTAAAAAGTTCAACCGGGCTA	0.403																																						dbGAP											0													77.0	66.0	69.0					3																	57335775		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.8778G>T	3.37:g.57335775C>A	ENSP00000295937:p.Leu2926Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy	p.E617*	ENST00000351747.2	37	c.1849		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.34|18.34	3.602522|3.602522	0.66445|0.66445	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000462199|ENST00000351747;ENST00000466540;ENST00000344804	.|T;T;T	.|0.10099	.|2.91;2.91;2.91	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Dynein heavy chain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.38348	.|0.1037	M|M	0.87547|0.87547	2.89|2.89	0.32118|0.32118	N|N	0.588446|0.588446	.|P;D	.|0.89917	.|0.902;1.0	.|P;D	.|0.83275	.|0.845;0.996	.|T	.|0.55592	.|-0.8117	.|10	.|0.87932	.|D	.|0	.|.	14.3619|14.3619	0.66779|0.66779	0.0:0.852:0.148:0.0|0.0:0.852:0.148:0.0	.|.	.|513;2926	.|Q6ZR08-2;Q6ZR08	.|.;DYH12_HUMAN	X|F	617|2926;571;513	.|ENSP00000295937:L2926F;ENSP00000420359:L571F;ENSP00000340464:L513F	.|ENSP00000340464:L513F	E|L	-|-	1|3	0|2	DNAH12|DNAH12	57310815|57310815	0.986000|0.986000	0.35501|0.35501	0.141000|0.141000	0.22245|0.22245	0.563000|0.563000	0.35712|0.35712	1.767000|1.767000	0.38501|0.38501	2.420000|2.420000	0.82092|0.82092	0.557000|0.557000	0.71058|0.71058	GAA|TTG	DNAH12	-	pfam_Dynein_heavy	ENSG00000174844		0.403	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		38	0.00	0	C	NM_178504		57335775	57335775	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000462199	ensembl	human	putative	69_37n	nonsense	28	15.15	5	SNP	1.000	A
DNAH12	201625	genome.wustl.edu	37	3	57356427	57356427	+	Missense_Mutation	SNP	G	G	C	rs188540108		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:57356427G>C	ENST00000351747.2	-	50	8044	c.7864C>G	c.(7864-7866)Ctc>Gtc	p.L2622V	DNAH12_ENST00000344804.4_Missense_Mutation_p.L255V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2622	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GGATCAGTGAGATATGATTGA	0.368																																						dbGAP											0													124.0	118.0	120.0					3																	57356427		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.7864C>G	3.37:g.57356427G>C	ENSP00000295937:p.Leu2622Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2622V	ENST00000351747.2	37	c.7864		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.175278|2.175278	0.38413|0.38413	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000351747;ENST00000466540;ENST00000344804|ENST00000462199	T;T;T|.	0.08282|.	3.11;3.11;3.11|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Dynein heavy chain (1);|.	0.064057|.	0.64402|.	D|.	0.000008|.	T|T	0.71685|0.71685	0.3369|0.3369	M|M	0.81497|0.81497	2.545|2.545	0.27247|0.27247	N|N	0.958997|0.958997	B;P|.	0.42078|.	0.018;0.77|.	B;P|.	0.51918|.	0.03;0.684|.	T|T	0.66602|0.66602	-0.5882|-0.5882	10|5	0.66056|.	D|.	0.02|.	.|.	19.4672|19.4672	0.94948|0.94948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	255;2622|.	Q6ZR08-2;Q6ZR08|.	.;DYH12_HUMAN|.	V|C	2622;313;255|312	ENSP00000295937:L2622V;ENSP00000420359:L313V;ENSP00000340464:L255V|.	ENSP00000340464:L255V|.	L|S	-|-	1|2	0|0	DNAH12|DNAH12	57331467|57331467	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.596000|0.596000	0.36781|0.36781	4.693000|4.693000	0.61753|0.61753	2.593000|2.593000	0.87608|0.87608	0.557000|0.557000	0.71058|0.71058	CTC|TCT	DNAH12	-	pfam_Dynein_heavy	ENSG00000174844		0.368	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		65	0.00	0	G	NM_178504		57356427	57356427	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	1.000	C
DNAJC14	85406	genome.wustl.edu	37	12	56221447	56221447	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:56221447G>A	ENST00000357606.3	-	3	1285	c.996C>T	c.(994-996)ctC>ctT	p.L332L	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Silent_p.L332L|DNAJC14_ENST00000317269.3_Silent_p.L332L|RP11-762I7.5_ENST00000546837.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	332					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCAGAGCCAGGAGCAGCAAAG	0.542																																						dbGAP											0													82.0	74.0	77.0					12																	56221447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.996C>T	12.37:g.56221447G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L332	ENST00000357606.3	37	c.996	CCDS8894.1	12																																																																																			DNAJC14	-	NULL	ENSG00000135392		0.542	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	44	0.00	0	G	NM_032364		56221447	56221447	-1	no_errors	ENST00000317269	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	0.833	A
DNHD1	144132	genome.wustl.edu	37	11	6568698	6568698	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:6568698G>A	ENST00000527990.2	+	19	6529	c.6529G>A	c.(6529-6531)Gag>Aag	p.E2177K	DNHD1_ENST00000254579.6_Missense_Mutation_p.E2177K			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2177					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACAGTCGCTGAGCTCAACCA	0.572																																						dbGAP											0													57.0	48.0	51.0					11																	6568698		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6529G>A	11.37:g.6568698G>A	ENSP00000436180:p.Glu2177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.E2177K	ENST00000527990.2	37	c.6529	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027457	0.35797	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.26518	1.73;1.73	6.17	4.26	0.50523	.	0.453428	0.23889	N	0.043572	T	0.28665	0.0710	M	0.61703	1.905	0.09310	N	0.999997	P	0.39282	0.666	B	0.37508	0.252	T	0.07809	-1.0753	10	0.27082	T	0.32	.	16.2734	0.82632	0.0:0.5006:0.4993:0.0	.	2177	Q96M86	DNHD1_HUMAN	K	2177;2177;468	ENSP00000254579:E2177K;ENSP00000436180:E2177K	ENSP00000254579:E2177K	E	+	1	0	DNHD1	6525274	0.336000	0.24757	0.777000	0.31699	0.361000	0.29550	0.570000	0.23653	0.887000	0.36136	0.655000	0.94253	GAG	DNHD1	-	NULL	ENSG00000179532		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	33	0.00	0	G	NM_144666		6568698	6568698	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.184	A
DPEP3	64180	genome.wustl.edu	37	16	68012464	68012464	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:68012464C>G	ENST00000268793.4	-	3	928	c.555G>C	c.(553-555)caG>caC	p.Q185H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	160					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TGAGGTCAATCTGCTCCAGGG	0.587																																						dbGAP											0													170.0	151.0	157.0					16																	68012464		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.555G>C	16.37:g.68012464C>G	ENSP00000268793:p.Gln185His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.Q185H	ENST00000268793.4	37	c.555	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048586	0.75846	.	.	ENSG00000141096	ENST00000268793	T	0.26067	1.76	4.88	1.81	0.25067	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	H	0.95679	3.705	0.51767	D	0.999931	D	0.62365	0.991	D	0.65573	0.936	T	0.61118	-0.7127	10	0.87932	D	0	-0.0814	8.1818	0.31315	0.0:0.728:0.0:0.272	.	160	Q9H4B8	DPEP3_HUMAN	H	185	ENSP00000268793:Q185H	ENSP00000268793:Q185H	Q	-	3	2	DPEP3	66569965	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.696000	0.47052	0.470000	0.27294	0.561000	0.74099	CAG	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.587	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	65	0.00	0	C	NM_022357		68012464	68012464	-1	no_errors	ENST00000268793	ensembl	human	known	69_37n	missense	39	40.91	27	SNP	1.000	G
DPP6	1804	genome.wustl.edu	37	7	154564564	154564564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:154564564G>T	ENST00000377770.3	+	10	1189	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*	DPP6_ENST00000332007.3_Nonsense_Mutation_p.E288*|DPP6_ENST00000404039.1_Nonsense_Mutation_p.E286*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.E243*			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	350					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGCTGGAAGTGAGAACCCCAG	0.498																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													94.0	88.0	90.0					7																	154564564		1930	4135	6065	-	-	-	SO:0001587	stop_gained	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1048G>T	7.37:g.154564564G>T	ENSP00000367001:p.Glu350*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.E350*	ENST00000377770.3	37	c.1048		7	.	.	.	.	.	.	.	.	.	.	G	36	5.829570	0.96996	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	.	.	.	4.99	4.99	0.66335	.	0.101779	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-17.6913	18.2931	0.90137	0.0:0.0:1.0:0.0	.	.	.	.	X	286;350;288;243	.	ENSP00000328226:E288X	E	+	1	0	DPP6	154195497	1.000000	0.71417	0.983000	0.44433	0.652000	0.38707	8.974000	0.93433	2.308000	0.77769	0.655000	0.94253	GAG	DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.498	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	105	0.00	0	G	NM_130797		154564564	154564564	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	nonsense	64	38.46	40	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56473006	56473007	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:56473006_56473007insT	ENST00000361203.3	-	36	5793_5794	c.5786_5787insA	c.(5785-5787)aatfs	p.N1929fs	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Frame_Shift_Ins_p.N2107fs|DST_ENST00000312431.6_Frame_Shift_Ins_p.N1929fs|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Frame_Shift_Ins_p.N1929fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.N1603fs			Q03001	DYST_HUMAN	dystonin	1929					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAGTGTTATATTTTTTAAAAT	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5787dupA	6.37:g.56473012_56473012dupT	ENSP00000354508:p.Asn1929fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.N2107fs	ENST00000361203.3	37	c.6321_6320		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.351	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	61	0.00	0	-	NM_001723		56473006	56473007	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	frame_shift_ins	41	29.31	17	INS	0.006:0.002	T
DTX1	1840	genome.wustl.edu	37	12	113530988	113530988	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:113530988G>A	ENST00000257600.3	+	3	1466	c.963G>A	c.(961-963)aaG>aaA	p.K321K	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	321	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TCCCGGTGAAGAACTTGAATG	0.677																																						dbGAP											0													12.0	13.0	12.0					12																	113530988		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.963G>A	12.37:g.113530988G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60630|Q9BS04	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.K321	ENST00000257600.3	37	c.963	CCDS9164.1	12																																																																																			DTX1	-	NULL	ENSG00000135144		0.677	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	13	0.00	0	G			113530988	113530988	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	1.000	A
DUSP2	1844	genome.wustl.edu	37	2	96810080	96810080	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:96810080G>A	ENST00000288943.4	-	3	628	c.543C>T	c.(541-543)ttC>ttT	p.F181F	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	181					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				AGCTGCCCAGGAACAGGTAGG	0.662																																						dbGAP											0													40.0	43.0	42.0					2																	96810080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.543C>T	2.37:g.96810080G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T45	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.F181	ENST00000288943.4	37	c.543	CCDS2016.1	2																																																																																			DUSP2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000158050		0.662	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP2	HGNC	protein_coding	OTTHUMT00000252847.1	22	0.00	0	G	NM_004418		96810080	96810080	-1	no_errors	ENST00000288943	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	0.987	A
EMC4	51234	genome.wustl.edu	37	15	34517825	34517825	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:34517825G>C	ENST00000267750.4	+	2	291	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	EMC4_ENST00000559421.1_Missense_Mutation_p.E59Q|EMC4_ENST00000559078.1_Missense_Mutation_p.E59Q|EMC4_ENST00000557879.1_Missense_Mutation_p.E59Q|EMC4_ENST00000249209.4_Missense_Mutation_p.E59Q	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	59					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CAGCGTGCAAGAGACAGACCG	0.547																																						dbGAP											0													155.0	137.0	143.0					15																	34517825		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.175G>C	15.37:g.34517825G>C	ENSP00000267750:p.Glu59Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	pfam_DUF1077_TMEM85,pirsf_DUF1077_TMEM85	p.E59Q	ENST00000267750.4	37	c.175	CCDS10035.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.803935	0.96967	.	.	ENSG00000128463	ENST00000267750;ENST00000249209	T;T	0.44083	0.93;0.93	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	L	0.41961	1.31	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.87578	0.998;0.929;0.912	T	0.48896	-0.8994	10	0.32370	T	0.25	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	59;59;59	Q5J8M3-3;Q5J8M3-2;Q5J8M3	.;.;TMM85_HUMAN	Q	59	ENSP00000267750:E59Q;ENSP00000249209:E59Q	ENSP00000249209:E59Q	E	+	1	0	TMEM85	32305117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.435000	0.90297	2.793000	0.96121	0.655000	0.94253	GAG	EMC4	-	pfam_DUF1077_TMEM85,pirsf_DUF1077_TMEM85	ENSG00000128463		0.547	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC4	HGNC	protein_coding	OTTHUMT00000251568.1	61	0.00	0	G	NM_016454		34517825	34517825	+1	no_errors	ENST00000267750	ensembl	human	known	69_37n	missense	47	39.74	31	SNP	1.000	C
EPHX4	253152	genome.wustl.edu	37	1	92495765	92495765	+	Silent	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:92495765C>A	ENST00000370383.4	+	1	227	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	43						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGTGGAGCCTCGGCAAGGGGC	0.682																																					GBM(140;473 1857 5172 22066 49719)	dbGAP											0													21.0	18.0	19.0					1																	92495765		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.129C>A	1.37:g.92495765C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCC6	Silent	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.L43	ENST00000370383.4	37	c.129	CCDS736.1	1																																																																																			EPHX4	-	NULL	ENSG00000172031		0.682	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	10	0.00	0	C	NM_173567		92495765	92495765	+1	no_errors	ENST00000370383	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	1.000	A
EPN1	29924	genome.wustl.edu	37	19	56190110	56190110	+	Silent	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:56190110C>A	ENST00000270460.6	+	2	428	c.117C>A	c.(115-117)ctC>ctA	p.L39L	EPN1_ENST00000411543.2_Silent_p.L150L|EPN1_ENST00000085079.7_Silent_p.L39L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	39	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCAGCTCCCTCATGTCAGAGA	0.562																																						dbGAP											0													71.0	73.0	72.0					19																	56190110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.117C>A	19.37:g.56190110C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.L150	ENST00000270460.6	37	c.450	CCDS46199.1	19																																																																																			EPN1	-	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	ENSG00000063245		0.562	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	43	0.00	0	C	NM_013333		56190110	56190110	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	silent	47	17.54	10	SNP	1.000	A
ERCC6	2074	genome.wustl.edu	37	10	50682204	50682204	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:50682204G>T	ENST00000355832.5	-	13	2545	c.2467C>A	c.(2467-2469)Cct>Act	p.P823T	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.P193T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	823					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCATCATCAGGAAGACCTTTG	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													116.0	116.0	116.0					10																	50682204		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2467C>A	10.37:g.50682204G>T	ENSP00000348089:p.Pro823Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P823T	ENST00000355832.5	37	c.2467	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932511	0.34096	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.75589	-0.95;-0.95	5.1	3.19	0.36642	.	.	.	.	.	T	0.65186	0.2667	L	0.52206	1.635	0.51767	D	0.999934	B;B	0.32781	0.259;0.384	B;B	0.30646	0.118;0.081	T	0.57934	-0.7725	9	0.27082	T	0.32	-3.8003	10.6887	0.45858	0.0726:0.1325:0.7949:0.0	.	823;200	Q03468;Q59FF6	ERCC6_HUMAN;.	T	823;200;193	ENSP00000348089:P823T;ENSP00000445134:P193T	ENSP00000348089:P823T	P	-	1	0	ERCC6	50352210	1.000000	0.71417	0.011000	0.14972	0.937000	0.57800	6.654000	0.74387	0.622000	0.30249	0.467000	0.42956	CCT	ERCC6	-	NULL	ENSG00000225830		0.413	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	71	0.00	0	G	NM_000124		50682204	50682204	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	0.938	T
ETV5	2119	genome.wustl.edu	37	3	185769839	185769839	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:185769839C>T	ENST00000306376.5	-	12	1537	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	ETV5_ENST00000537818.1_Missense_Mutation_p.E473K|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.E431K	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	431					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATGCCCTTTTCATAGTAATAG	0.512			T	"""TMPRSS2, SCL45A3"""	Prostate																																	dbGAP		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													159.0	152.0	154.0					3																	185769839		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1291G>A	3.37:g.185769839C>T	ENSP00000306894:p.Glu431Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E473K	ENST00000306376.5	37	c.1417	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.357266	0.95854	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.54071	0.59;0.59;0.59	5.85	5.85	0.93711	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	N	0.21448	0.665	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66060	-0.6017	10	0.87932	D	0	.	18.9364	0.92588	0.0:1.0:0.0:0.0	.	431;473	P41161;B7Z7D7	ETV5_HUMAN;.	K	431;431;473	ENSP00000306894:E431K;ENSP00000413755:E431K;ENSP00000441737:E473K	ENSP00000306894:E431K	E	-	1	0	ETV5	187252533	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GAA	ETV5	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000244405		0.512	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	69	0.00	0	C	NM_004454		185769839	185769839	-1	no_errors	ENST00000537818	ensembl	human	known	69_37n	missense	59	35.16	32	SNP	1.000	T
FAM196A	642938	genome.wustl.edu	37	10	128974483	128974483	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:128974483C>T	ENST00000522781.1	-	4	732	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FAM196A_ENST00000424811.2_Silent_p.Q59Q|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	59										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTGTGTCCCTCTGCTCATTCT	0.582																																						dbGAP											0													117.0	113.0	115.0					10																	128974483		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.177G>A	10.37:g.128974483C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT4|B7ZME7	Silent	SNP	NULL	p.Q59	ENST00000522781.1	37	c.177	CCDS31312.1	10																																																																																			FAM196A	-	NULL	ENSG00000188916		0.582	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196A	HGNC	protein_coding	OTTHUMT00000050978.2	81	0.00	0	C	NM_001039762		128974483	128974483	-1	no_errors	ENST00000522781	ensembl	human	known	69_37n	silent	57	20.83	15	SNP	0.999	T
FAM47A	158724	genome.wustl.edu	37	X	34149897	34149897	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:34149897C>T	ENST00000346193.3	-	1	550	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	167										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCTGGGTCTCACAACAAGCC	0.557																																						dbGAP											0													67.0	65.0	66.0					X																	34149897		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.499G>A	X.37:g.34149897C>T	ENSP00000345029:p.Glu167Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.E167K	ENST00000346193.3	37	c.499	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606295	0.14002	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.1	0.0862	0.14445	.	.	.	.	.	T	0.30262	0.0759	L	0.46885	1.475	0.09310	N	1	D	0.65815	0.995	D	0.70227	0.968	T	0.16217	-1.0410	9	0.30078	T	0.28	.	4.8411	0.13491	0.0:0.5158:0.4842:0.0	.	167	Q5JRC9	FA47A_HUMAN	K	167	ENSP00000345029:E167K	ENSP00000345029:E167K	E	-	1	0	FAM47A	34059818	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-0.421000	0.07053	-0.038000	0.13624	0.499000	0.49734	GAG	FAM47A	-	NULL	ENSG00000185448		0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	87	0.00	0	C	NM_203408		34149897	34149897	-1	no_errors	ENST00000346193	ensembl	human	known	69_37n	missense	76	32.14	36	SNP	0.007	T
FAT4	79633	genome.wustl.edu	37	4	126411926	126411926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:126411926C>A	ENST00000394329.3	+	17	13962	c.13949C>A	c.(13948-13950)tCa>tAa	p.S4650*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.S2891*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4650					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAAATTTTCAATCCAGAGG	0.498																																						dbGAP											0													73.0	69.0	70.0					4																	126411926		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13949C>A	4.37:g.126411926C>A	ENSP00000377862:p.Ser4650*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4650*	ENST00000394329.3	37	c.13949	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	54	22.617457	0.99949	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.06	5.06	0.68205	.	0.000000	0.34133	U	0.004227	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	17.4371	0.87555	0.0:1.0:0.0:0.0	.	.	.	.	X	4650;2891	.	ENSP00000335169:S2891X	S	+	2	0	FAT4	126631376	1.000000	0.71417	0.827000	0.32855	0.841000	0.47740	4.518000	0.60510	2.347000	0.79759	0.561000	0.74099	TCA	FAT4	-	NULL	ENSG00000196159		0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	62	0.00	0	C	NM_024582		126411926	126411926	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	nonsense	33	42.11	24	SNP	1.000	A
FBP1	2203	genome.wustl.edu	37	9	97401448	97401448	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:97401448C>G	ENST00000375326.4	-	1	341	c.145G>C	c.(145-147)Gtg>Ctg	p.V49L	FBP1_ENST00000415431.1_Missense_Mutation_p.V49L	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	49					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	GCCTTGCGCACCGCCGAAGAG	0.697																																					Ovarian(142;590 2466 25593 44496)	dbGAP											0													22.0	20.0	21.0					9																	97401448		2201	4298	6499	-	-	-	SO:0001583	missense	0			M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.145G>C	9.37:g.97401448C>G	ENSP00000364475:p.Val49Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75571|Q53F94|Q96E46	Missense_Mutation	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase,prints_SBPase	p.V49L	ENST00000375326.4	37	c.145	CCDS6712.1	9	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945628	0.92593	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	T;T	0.75367	-0.93;-0.93	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	M	0.62723	1.935	0.80722	D	1	P	0.38863	0.65	B	0.43701	0.428	T	0.81309	-0.0991	10	0.87932	D	0	-23.5721	17.9003	0.88901	0.0:1.0:0.0:0.0	.	49	P09467	F16P1_HUMAN	L	49	ENSP00000364475:V49L;ENSP00000408025:V49L	ENSP00000364475:V49L	V	-	1	0	FBP1	96441269	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	7.589000	0.82641	2.450000	0.82876	0.557000	0.71058	GTG	FBP1	-	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase	ENSG00000165140		0.697	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP1	HGNC	protein_coding	OTTHUMT00000053187.1	11	0.00	0	C	NM_000507		97401448	97401448	-1	no_errors	ENST00000375326	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	G
FGD6	55785	genome.wustl.edu	37	12	95566496	95566496	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:95566496C>T	ENST00000343958.4	-	3	2689	c.2466G>A	c.(2464-2466)caG>caA	p.Q822Q	FGD6_ENST00000549499.1_Silent_p.Q822Q|FGD6_ENST00000546711.1_Silent_p.Q822Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	822					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CAAGATCATTCTGTTCCTCCT	0.423																																						dbGAP											0													172.0	164.0	167.0					12																	95566496		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2466G>A	12.37:g.95566496C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	NULL	p.R14K	ENST00000343958.4	37	c.41	CCDS31878.1	12																																																																																			FGD6	-	NULL	ENSG00000180263		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	66	0.00	0	C	NM_018351		95566496	95566496	-1	no_errors	ENST00000451107	ensembl	human	known	69_37n	missense	37	45.59	31	SNP	0.000	T
FHDC1	85462	genome.wustl.edu	37	4	153897510	153897510	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:153897510C>A	ENST00000511601.1	+	12	3255	c.3067C>A	c.(3067-3069)Ccc>Acc	p.P1023T	FHDC1_ENST00000260008.3_Missense_Mutation_p.P1023T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1023									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCGTCAGTGCCCAGCGTCCC	0.617																																						dbGAP											0													61.0	70.0	67.0					4																	153897510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3067C>A	4.37:g.153897510C>A	ENSP00000427567:p.Pro1023Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.P1023T	ENST00000511601.1	37	c.3067	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	3.809	-0.040100	0.07497	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32023	1.47;1.47	5.21	2.2	0.27929	.	0.627824	0.17377	N	0.176442	T	0.15912	0.0383	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.25047	-1.0143	10	0.12766	T	0.61	.	11.058	0.47931	0.1047:0.5259:0.3694:0.0	.	1023	Q9C0D6	FHDC1_HUMAN	T	1023	ENSP00000427567:P1023T;ENSP00000260008:P1023T	ENSP00000260008:P1023T	P	+	1	0	FHDC1	154116960	0.000000	0.05858	0.164000	0.22755	0.157000	0.22087	1.074000	0.30703	0.674000	0.31244	0.655000	0.94253	CCC	FHDC1	-	NULL	ENSG00000137460		0.617	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	20	0.00	0	C	NM_033393		153897510	153897510	+1	no_errors	ENST00000260008	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	0.001	A
FKBP5	2289	genome.wustl.edu	37	6	35610571	35610571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:35610571C>A	ENST00000539068.1	-	2	233	c.31G>T	c.(31-33)Gaa>Taa	p.E11*	FKBP5_ENST00000357266.4_Nonsense_Mutation_p.E11*|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Nonsense_Mutation_p.E11*|FKBP5_ENST00000536438.1_Nonsense_Mutation_p.E11*	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	11					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GGGCTTTCTTCATTGTTCTTG	0.403																																						dbGAP											0													185.0	184.0	184.0					6																	35610571		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.31G>T	6.37:g.35610571C>A	ENSP00000441205:p.Glu11*	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7R1|Q59EB8|Q5TGM6	Nonsense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E11*	ENST00000539068.1	37	c.31	CCDS4808.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.408304|7.408304	0.98265|0.98265	.|.	.|.	ENSG00000096060|ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000542713|ENST00000373875	.|.	.|.	.|.	5.95|5.95	5.09|5.09	0.68999|0.68999	.|.	0.262553|.	0.38272|.	N|.	0.001743|.	.|T	.|0.56232	.|0.1971	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59931	.|-0.7361	.|4	0.07325|0.39692	T|T	0.83|0.17	-10.3309|-10.3309	14.587|14.587	0.68331|0.68331	0.0:0.8541:0.1459:0.0|0.0:0.8541:0.1459:0.0	.|.	.|.	.|.	.|.	X|I	11|9	.|.	ENSP00000338160:E11X|ENSP00000362982:M9I	E|M	-|-	1|3	0|0	FKBP5|FKBP5	35718549|35718549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.471000|0.471000	0.32888|0.32888	1.204000|1.204000	0.32296|0.32296	1.524000|1.524000	0.49035|0.49035	-0.150000|-0.150000	0.13652|0.13652	GAA|ATG	FKBP5	-	NULL	ENSG00000096060		0.403	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	198	0.00	0	C			35610571	35610571	-1	no_errors	ENST00000337746	ensembl	human	known	69_37n	nonsense	177	32.18	84	SNP	1.000	A
FKBP9	11328	genome.wustl.edu	37	7	33044955	33044955	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:33044955G>C	ENST00000242209.4	+	10	1874	c.1705G>C	c.(1705-1707)Gaa>Caa	p.E569Q	FKBP9_ENST00000538336.1_Missense_Mutation_p.E622Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.E431Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.E337Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	569					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CAAACACGATGAACTCTAAAC	0.512																																						dbGAP											0													146.0	105.0	119.0					7																	33044955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1705G>C	7.37:g.33044955G>C	ENSP00000242209:p.Glu569Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.E622Q	ENST00000242209.4	37	c.1864	CCDS5439.1	7	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951825	0.92660	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.61980	0.06;0.12;0.12;0.07	5.07	5.07	0.68467	.	.	.	.	.	T	0.68888	0.3050	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.995	T	0.74651	-0.3594	9	0.87932	D	0	-13.9129	18.4683	0.90763	0.0:0.0:1.0:0.0	.	337;622;569	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	Q	569;622;431;337	ENSP00000242209:E569Q;ENSP00000439250:E622Q;ENSP00000437504:E431Q;ENSP00000441317:E337Q	ENSP00000242209:E569Q	E	+	1	0	FKBP9	33011480	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	9.610000	0.98337	2.371000	0.80710	0.555000	0.69702	GAA	FKBP9	-	NULL	ENSG00000122642		0.512	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	HGNC	protein_coding	OTTHUMT00000215137.1	128	0.00	0	G	NM_007270		33044955	33044955	+1	no_errors	ENST00000538336	ensembl	human	known	69_37n	missense	142	19.32	34	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152284654	152284654	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:152284654C>G	ENST00000368799.1	-	3	2743	c.2708G>C	c.(2707-2709)aGa>aCa	p.R903T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	903	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCGTCTCTTGATTGTTC	0.562									Ichthyosis																													dbGAP											0													406.0	389.0	395.0					1																	152284654		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2708G>C	1.37:g.152284654C>G	ENSP00000357789:p.Arg903Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R903T	ENST00000368799.1	37	c.2708	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	5.079	0.200322	0.09652	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	2.69	-4.61	0.03380	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.42413	-0.9453	9	0.15066	T	0.55	.	6.0698	0.19883	0.0:0.2911:0.5606:0.1483	.	903	P20930	FILA_HUMAN	T	903	ENSP00000357789:R903T	ENSP00000357789:R903T	R	-	2	0	FLG	150551278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.224000	0.01213	-0.617000	0.05664	0.479000	0.44913	AGA	FLG	-	prints_Filaggrin	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	250	0.00	0	C	NM_002016		152284654	152284654	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	414	15.16	74	SNP	0.000	G
FMOD	2331	genome.wustl.edu	37	1	203316865	203316865	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:203316865C>T	ENST00000354955.4	-	2	997	c.534G>A	c.(532-534)ctG>ctA	p.L178L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	178					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGAGCTCTCTCAGGGATCGAG	0.597																																						dbGAP											0													126.0	129.0	128.0					1																	203316865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.534G>A	1.37:g.203316865C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15331|Q8IV47	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L178	ENST00000354955.4	37	c.534	CCDS30976.1	1																																																																																			FMOD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000122176		0.597	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1	41	0.00	0	C	NM_002023		203316865	203316865	-1	no_errors	ENST00000354955	ensembl	human	known	69_37n	silent	40	31.03	18	SNP	0.989	T
FMOD	2331	genome.wustl.edu	37	1	203317297	203317297	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:203317297C>G	ENST00000354955.4	-	2	565	c.102G>C	c.(100-102)caG>caC	p.Q34H	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	34					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGGTGGACTGCTGGCTGCGGA	0.592																																						dbGAP											0													64.0	62.0	63.0					1																	203317297		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.102G>C	1.37:g.203317297C>G	ENSP00000347041:p.Gln34His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15331|Q8IV47	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.Q34H	ENST00000354955.4	37	c.102	CCDS30976.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.92|18.92	3.725542|3.725542	0.68959|0.68959	.|.	.|.	ENSG00000122176|ENSG00000122176	ENST00000435105;ENST00000354955|ENST00000539467	T|.	0.56275|.	0.47|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.081755|.	0.50627|.	D|.	0.000107|.	T|T	0.57198|0.57198	0.2037|0.2037	N|N	0.19112|0.19112	0.55|0.55	0.47441|0.47441	D|D	0.999424|0.999424	P|.	0.50617|.	0.937|.	B|.	0.42851|.	0.4|.	T|T	0.62445|0.62445	-0.6853|-0.6853	10|6	0.56958|0.87932	D|D	0.05|0	-13.5983|-13.5983	18.0351|18.0351	0.89298|0.89298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	34|.	Q06828|.	FMOD_HUMAN|.	H|T	34|15	ENSP00000347041:Q34H|.	ENSP00000347041:Q34H|ENSP00000438680:S15T	Q|S	-|-	3|2	2|0	FMOD|FMOD	201583920|201583920	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.551000|0.551000	0.23361|0.23361	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	CAG|AGC	FMOD	-	NULL	ENSG00000122176		0.592	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1	32	0.00	0	C	NM_002023		203317297	203317297	-1	no_errors	ENST00000354955	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	G
FMN2	56776	genome.wustl.edu	37	1	240255809	240255809	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:240255809G>A	ENST00000319653.9	+	1	630	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	134					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTCGGATACCGAGTGTGCGGA	0.692																																						dbGAP											0													12.0	16.0	15.0					1																	240255809		2195	4295	6490	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.400G>A	1.37:g.240255809G>A	ENSP00000318884:p.Glu134Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.E134K	ENST00000319653.9	37	c.400	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301007	0.40694	.	.	ENSG00000155816	ENST00000319653	T	0.38560	1.13	4.35	3.35	0.38373	.	0.099979	0.42420	D	0.000702	T	0.52805	0.1757	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	P	0.57679	0.825	T	0.57579	-0.7787	10	0.56958	D	0.05	.	13.192	0.59717	0.0:0.0:0.8398:0.1602	.	134	Q9NZ56	FMN2_HUMAN	K	134	ENSP00000318884:E134K	ENSP00000318884:E134K	E	+	1	0	FMN2	238322432	1.000000	0.71417	0.997000	0.53966	0.429000	0.31625	6.753000	0.74904	2.125000	0.65367	0.313000	0.20887	GAG	FMN2	-	NULL	ENSG00000155816		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	21	0.00	0	G	XM_371352		240255809	240255809	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.998	A
FRS2	10818	genome.wustl.edu	37	12	69967870	69967870	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:69967870C>T	ENST00000550389.1	+	7	908	c.662C>T	c.(661-663)tCt>tTt	p.S221F	FRS2_ENST00000299293.2_Missense_Mutation_p.S221F|FRS2_ENST00000397997.2_Missense_Mutation_p.S221F|FRS2_ENST00000549921.1_Missense_Mutation_p.S221F	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	221					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCGAGGGTTTCTAACGCTGAA	0.438																																						dbGAP											0													86.0	83.0	84.0					12																	69967870		1917	4127	6044	-	-	-	SO:0001583	missense	0			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.662C>T	12.37:g.69967870C>T	ENSP00000447241:p.Ser221Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.S221F	ENST00000550389.1	37	c.662	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.287518	0.95517	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.9	5.9	0.94986	.	0.286474	0.41605	D	0.000850	T	0.28632	0.0709	L	0.34521	1.04	0.51767	D	0.999939	P	0.50943	0.94	B	0.41571	0.36	T	0.01202	-1.1420	9	.	.	.	-10.9301	20.3268	0.98702	0.0:1.0:0.0:0.0	.	221	Q8WU20	FRS2_HUMAN	F	221	ENSP00000299293:S221F;ENSP00000450048:S221F;ENSP00000447241:S221F;ENSP00000381083:S221F	.	S	+	2	0	FRS2	68254137	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.039000	0.64185	2.794000	0.96219	0.650000	0.86243	TCT	FRS2	-	NULL	ENSG00000166225		0.438	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	HGNC	protein_coding	OTTHUMT00000403760.1	45	0.00	0	C	NM_006654		69967870	69967870	+1	no_errors	ENST00000299293	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	T
FSCB	84075	genome.wustl.edu	37	14	44975332	44975332	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:44975332C>T	ENST00000340446.4	-	1	1150	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	287						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGGGTCTCTTCAGCAGGTCTG	0.493																																						dbGAP											0													55.0	56.0	56.0					14																	44975332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.859G>A	14.37:g.44975332C>T	ENSP00000344579:p.Glu287Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.E287K	ENST00000340446.4	37	c.859	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019738	0.54576	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24151	1.87	4.11	4.11	0.48088	.	.	.	.	.	T	0.26593	0.0650	L	0.34521	1.04	0.09310	N	1	P	0.50943	0.94	P	0.51135	0.66	T	0.05162	-1.0902	9	0.34782	T	0.22	-3.5368	8.4721	0.32991	0.0:0.8885:0.0:0.1115	.	287	Q5H9T9	FSCB_HUMAN	K	287	ENSP00000344579:E287K	ENSP00000344579:E287K	E	-	1	0	FSCB	44045082	0.012000	0.17670	0.007000	0.13788	0.004000	0.04260	1.154000	0.31688	2.226000	0.72624	0.655000	0.94253	GAA	FSCB	-	NULL	ENSG00000189139		0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	58	0.00	0	C	NM_032135		44975332	44975332	-1	no_errors	ENST00000340446	ensembl	human	known	69_37n	missense	46	33.33	23	SNP	0.067	T
FSD2	123722	genome.wustl.edu	37	15	83437670	83437670	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:83437670C>G	ENST00000334574.8	-	9	1696	c.1515G>C	c.(1513-1515)ctG>ctC	p.L505L	FSD2_ENST00000541889.1_Silent_p.L460L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	505	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CAGCCTGGGTCAGCTCCACAG	0.517																																						dbGAP											0													48.0	51.0	50.0					15																	83437670		2021	4198	6219	-	-	-	SO:0001819	synonymous_variant	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1515G>C	15.37:g.83437670C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVG1|B7ZM02	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.L505	ENST00000334574.8	37	c.1515	CCDS45332.1	15																																																																																			FSD2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000186628		0.517	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	68	0.00	0	C	NM_001007122		83437670	83437670	-1	no_errors	ENST00000334574	ensembl	human	known	69_37n	silent	68	23.60	21	SNP	0.949	G
GAA	2548	genome.wustl.edu	37	17	78087103	78087103	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:78087103C>G	ENST00000302262.3	+	15	2346	c.2127C>G	c.(2125-2127)ctC>ctG	p.L709L	GAA_ENST00000390015.3_Silent_p.L709L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	709					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TCCCCCACCTCTACACACTGT	0.701																																						dbGAP											0													53.0	43.0	47.0					17																	78087103		2194	4298	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2127C>G	17.37:g.78087103C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.L709	ENST00000302262.3	37	c.2127	CCDS32760.1	17																																																																																			GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.701	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	26	0.00	0	C			78087103	78087103	+1	no_errors	ENST00000302262	ensembl	human	known	69_37n	silent	20	39.39	13	SNP	1.000	G
GNPAT	8443	genome.wustl.edu	37	1	231398518	231398518	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:231398518G>A	ENST00000366647.4	+	4	657	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	GNPAT_ENST00000366646.3_Missense_Mutation_p.R102Q	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	163					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTAGTCATCGAAGTTACATT	0.363																																						dbGAP											0													214.0	177.0	189.0					1																	231398518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.488G>A	1.37:g.231398518G>A	ENSP00000355607:p.Arg163Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.R163Q	ENST00000366647.4	37	c.488	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.702171	0.96812	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.65	5.65	0.86999	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96034	0.8708	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.75484	0.933;0.986	D	0.95899	0.8913	10	0.66056	D	0.02	.	19.7317	0.96183	0.0:0.0:1.0:0.0	.	102;163	B4DNM9;O15228	.;GNPAT_HUMAN	Q	102;163;102;153	ENSP00000402811:R102Q;ENSP00000355607:R163Q;ENSP00000355606:R102Q;ENSP00000411640:R153Q	ENSP00000355606:R102Q	R	+	2	0	GNPAT	229465141	1.000000	0.71417	0.926000	0.36857	0.982000	0.71751	9.869000	0.99810	2.677000	0.91161	0.650000	0.86243	CGA	GNPAT	-	pfam_Acyltransferase,smart_Acyltransferase	ENSG00000116906		0.363	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	143	0.00	0	G			231398518	231398518	+1	no_errors	ENST00000366647	ensembl	human	known	69_37n	missense	188	24.50	61	SNP	1.000	A
GPR180	160897	genome.wustl.edu	37	13	95264620	95264620	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr13:95264620G>C	ENST00000376958.4	+	3	506	c.481G>C	c.(481-483)Gat>Cat	p.D161H		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	161					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GAATCCATTTGATCATTTTAG	0.328																																						dbGAP											0													118.0	111.0	113.0					13																	95264620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.481G>C	13.37:g.95264620G>C	ENSP00000366157:p.Asp161His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1D5	Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk	p.D161H	ENST00000376958.4	37	c.481	CCDS9472.1	13	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492723	0.64074	.	.	ENSG00000152749	ENST00000376958	T	0.44482	0.92	5.28	4.44	0.53790	Rhodopsin-like GPCR transmembrane domain (1);	0.142496	0.64402	D	0.000007	T	0.60340	0.2261	M	0.62723	1.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.60840	-0.7183	10	0.42905	T	0.14	-5.9581	14.3708	0.66838	0.072:0.0:0.928:0.0	.	161	Q86V85	GP180_HUMAN	H	161	ENSP00000366157:D161H	ENSP00000366157:D161H	D	+	1	0	GPR180	94062621	1.000000	0.71417	0.885000	0.34714	0.895000	0.52256	6.344000	0.72991	1.357000	0.45904	-0.157000	0.13467	GAT	GPR180	-	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk	ENSG00000152749		0.328	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	HGNC	protein_coding	OTTHUMT00000045465.3	48	0.00	0	G	NM_180989		95264620	95264620	+1	no_errors	ENST00000376958	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.997	C
GRK7	131890	genome.wustl.edu	37	3	141499536	141499536	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:141499536C>T	ENST00000264952.2	+	2	1070	c.933C>T	c.(931-933)ggC>ggT	p.G311G		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGAACTCGGCATCGTCTATC	0.577																																						dbGAP											0													92.0	81.0	85.0					3																	141499536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.933C>T	3.37:g.141499536C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.G311	ENST00000264952.2	37	c.933	CCDS3120.1	3																																																																																			GRK7	-	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	ENSG00000114124		0.577	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	55	0.00	0	C	NM_139209		141499536	141499536	+1	no_errors	ENST00000264952	ensembl	human	known	69_37n	silent	57	31.33	26	SNP	0.276	T
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657350	72657350	+	RNA	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:72657350G>C	ENST00000425256.1	-	0	2561									GTF2I repeat domain containing 2 pseudogene 1																		ctttaactgggagcagtattt	0.488																																						dbGAP											0																																										-	-	-			0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657350G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	43	0.00	0	G	NR_002164		72657350	72657350	-1	no_errors	ENST00000425256	ensembl	human	known	69_37n	rna	30	28.57	12	SNP	0.417	C
GUSBP11	91316	genome.wustl.edu	37	22	24002184	24002184	+	RNA	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr22:24002184G>T	ENST00000455485.1	-	0	3227				AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										ATCAGAGGTGGATCCTGGGAT	0.398																																						dbGAP											0																																										-	-	-			0					22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.24002184G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000455485.1	37	NULL		22																																																																																			GUSBP11	-	-	ENSG00000228315		0.398	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	GUSBP11	HGNC	processed_transcript	OTTHUMT00000319697.1	30	0.00	0	G			24002184	24002184	-1	no_errors	ENST00000417194	ensembl	human	known	69_37n	rna	18	40.00	12	SNP	1.000	T
MROH2B	133558	genome.wustl.edu	37	5	41051159	41051159	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:41051159C>T	ENST00000399564.4	-	13	1714	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	422																	TCTTCCTTTTCATTCTCATGA	0.433																																						dbGAP											0													70.0	70.0	70.0					5																	41051159		1834	4086	5920	-	-	-	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1264G>A	5.37:g.41051159C>T	ENSP00000382476:p.Glu422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E422K	ENST00000399564.4	37	c.1264	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418994	0.42918	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.72394	-0.65	5.36	4.41	0.53225	Armadillo-type fold (1);	0.748872	0.11895	N	0.519204	T	0.61578	0.2358	L	0.47716	1.5	0.09310	N	1	B	0.26195	0.144	B	0.24701	0.055	T	0.47381	-0.9122	10	0.10902	T	0.67	.	12.0136	0.53301	0.1841:0.8159:0.0:0.0	.	422	Q7Z745	HTRB2_HUMAN	K	126;422	ENSP00000382476:E422K	ENSP00000296803:E126K	E	-	1	0	HEATR7B2	41086916	0.128000	0.22383	0.023000	0.16930	0.053000	0.15095	2.364000	0.44187	2.512000	0.84698	0.655000	0.94253	GAA	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	44	0.00	0	C	NM_173489		41051159	41051159	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	0.001	T
HCN1	348980	genome.wustl.edu	37	5	45645500	45645500	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:45645500C>T	ENST00000303230.4	-	2	693	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	212					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATCTTGATCACTTTGGGGT	0.378																																						dbGAP											0													89.0	84.0	86.0					5																	45645500		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.636G>A	5.37:g.45645500C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.V212	ENST00000303230.4	37	c.636	CCDS3952.1	5																																																																																			HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.378	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	59	0.00	0	C	NM_021072		45645500	45645500	-1	no_errors	ENST00000303230	ensembl	human	known	69_37n	silent	56	30.86	25	SNP	0.997	T
HECW2	57520	genome.wustl.edu	37	2	197189706	197189706	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:197189706C>T	ENST00000260983.3	-	6	921	c.739G>A	c.(739-741)Gag>Aag	p.E247K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	247	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATCTTACCTCTCGGTGCCAA	0.512																																						dbGAP											0													205.0	185.0	191.0					2																	197189706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.739G>A	2.37:g.197189706C>T	ENSP00000260983:p.Glu247Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E247K	ENST00000260983.3	37	c.739	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.640620	0.96693	.	.	ENSG00000138411	ENST00000260983	T	0.77750	-1.12	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.103999	0.64402	N	0.000003	D	0.88640	0.6491	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89600	0.3834	10	0.87932	D	0	.	18.9309	0.92564	0.0:1.0:0.0:0.0	.	247	Q9P2P5	HECW2_HUMAN	K	247	ENSP00000260983:E247K	ENSP00000260983:E247K	E	-	1	0	HECW2	196897951	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.228000	0.78079	2.699000	0.92147	0.655000	0.94253	GAG	HECW2	-	pfam_C2_Ca-dep,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000138411		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	90	0.00	0	C	NM_020760		197189706	197189706	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	100	13.79	16	SNP	1.000	T
HIST1H4B	8366	genome.wustl.edu	37	6	26027324	26027324	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:26027324C>G	ENST00000377364.3	-	1	156	c.157G>C	c.(157-159)Gag>Cag	p.E53Q		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	53					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGAGTCTCCTCATAAATCAAA	0.562																																						dbGAP											0													85.0	75.0	78.0					6																	26027324		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.157G>C	6.37:g.26027324C>G	ENSP00000366581:p.Glu53Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.E53Q	ENST00000377364.3	37	c.157	CCDS4572.1	6	.	.	.	.	.	.	.	.	.	.	c	16.61	3.171645	0.57584	.	.	ENSG00000124529	ENST00000377364	T	0.68624	-0.34	4.65	3.77	0.43336	.	0.000000	0.53938	U	0.000051	T	0.67344	0.2883	.	.	.	0.37014	D	0.895853	.	.	.	.	.	.	T	0.72629	-0.4235	7	0.59425	D	0.04	.	12.9701	0.58508	0.0:0.9186:0.0:0.0814	.	.	.	.	Q	53	ENSP00000366581:E53Q	ENSP00000366581:E53Q	E	-	1	0	HIST1H4B	26135303	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	5.601000	0.67606	1.228000	0.43614	0.563000	0.77884	GAG	HIST1H4B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000124529		0.562	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2	38	0.00	0	C	NM_003544		26027324	26027324	-1	no_errors	ENST00000377364	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	1.000	G
HMG20A	10363	genome.wustl.edu	37	15	77763314	77763314	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:77763314G>A	ENST00000381714.3	+	6	941	c.513G>A	c.(511-513)caG>caA	p.Q171Q	HMG20A_ENST00000336216.4_Silent_p.Q171Q	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	171					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AACAGTATCAGAAAACAGAGG	0.403																																						dbGAP											0													104.0	96.0	99.0					15																	77763314		2196	4294	6490	-	-	-	SO:0001819	synonymous_variant	0			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.513G>A	15.37:g.77763314G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHY3|D3DW78|Q53G31|Q9NSF6	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q171	ENST00000381714.3	37	c.513	CCDS10295.1	15																																																																																			HMG20A	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000140382		0.403	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	53	0.00	0	G	NM_018200		77763314	77763314	+1	no_errors	ENST00000336216	ensembl	human	known	69_37n	silent	50	33.33	25	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	70841561	70841561	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:70841561C>T	ENST00000393567.2	-	86	15438	c.15288G>A	c.(15286-15288)ctG>ctA	p.L5096L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5096					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTCACAGTCAGCTTGGTGG	0.507																																						dbGAP											0													180.0	179.0	180.0					16																	70841561		1995	4177	6172	-	-	-	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15288G>A	16.37:g.70841561C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L5095	ENST00000393567.2	37	c.15285	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	114	0.00	0	C			70841561	70841561	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	silent	68	51.77	73	SNP	0.997	T
IFNA21	3452	genome.wustl.edu	37	9	21166061	21166061	+	Missense_Mutation	SNP	C	C	G	rs577616759		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:21166061C>G	ENST00000380225.1	-	1	598	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTTAATCTTTCTTGAAA	0.383																																						dbGAP											0													135.0	135.0	135.0					9																	21166061		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.551G>C	9.37:g.21166061C>G	ENSP00000369574:p.Arg184Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.R184T	ENST00000380225.1	37	c.551	CCDS6497.1	9	.	.	.	.	.	.	.	.	.	.	N	9.203	1.028876	0.19512	.	.	ENSG00000137080	ENST00000380225	T	0.03982	3.74	3.8	0.437	0.16555	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.802693	0.11446	N	0.563268	T	0.07324	0.0185	M	0.76002	2.32	0.09310	N	1	B	0.29671	0.254	B	0.31245	0.126	T	0.30650	-0.9971	10	0.87932	D	0	.	4.3734	0.11258	0.1825:0.5843:0.0:0.2332	.	184	P01568	IFN21_HUMAN	T	184	ENSP00000369574:R184T	ENSP00000369574:R184T	R	-	2	0	IFNA21	21156061	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.341000	0.07811	0.246000	0.21394	0.644000	0.83932	AGA	IFNA21	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000137080		0.383	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA21	HGNC	protein_coding	OTTHUMT00000051882.1	141	0.00	0	C	NM_002175		21166061	21166061	-1	no_errors	ENST00000380225	ensembl	human	known	69_37n	missense	106	37.28	63	SNP	0.000	G
IFRD2	7866	genome.wustl.edu	37	3	50326327	50326327	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:50326327G>A	ENST00000429673.2	-	9	1118	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	IFRD2_ENST00000417626.2_Silent_p.V309V|IFRD2_ENST00000436390.1_Silent_p.V309V|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.V475V			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	373						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGTGCGCAGGACACTGCAGA	0.587																																						dbGAP											0													43.0	48.0	46.0					3																	50326327		2125	4243	6368	-	-	-	SO:0001819	synonymous_variant	0			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1119C>T	3.37:g.50326327G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVB4|Q9UJ88	Silent	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.V475	ENST00000429673.2	37	c.1425	CCDS46831.1	3																																																																																			IFRD2	-	pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold	ENSG00000214706		0.587	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		31	0.00	0	G	NM_006764		50326327	50326327	-1	no_errors	ENST00000336089	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.118	A
IGFBPL1	347252	genome.wustl.edu	37	9	38411522	38411522	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:38411522C>T	ENST00000377694.1	-	4	734	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	238	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TACACACCCTCATCCTCCTTT	0.448																																						dbGAP											0													111.0	93.0	99.0					9																	38411522		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.712G>A	9.37:g.38411522C>T	ENSP00000366923:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Prot_inh_Kazal,pfam_IGFBP-like,pfam_Kazal-type_dom,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like	p.E238K	ENST00000377694.1	37	c.712	CCDS35017.1	9	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578502	0.86645	.	.	ENSG00000137142	ENST00000377694	T	0.68181	-0.31	6.17	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	U	0.000299	T	0.78091	0.4229	M	0.74389	2.26	0.35699	D	0.815494	D	0.71674	0.998	D	0.64506	0.926	T	0.80908	-0.1172	10	0.21540	T	0.41	-4.5459	13.397	0.60858	0.0:0.8426:0.1574:0.0	.	238	Q8WX77	IBPL1_HUMAN	K	238	ENSP00000366923:E238K	ENSP00000366923:E238K	E	-	1	0	IGFBPL1	38401522	0.798000	0.28890	0.967000	0.41034	0.825000	0.46686	1.813000	0.38962	1.585000	0.49928	0.655000	0.94253	GAG	IGFBPL1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like	ENSG00000137142		0.448	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBPL1	HGNC	protein_coding	OTTHUMT00000052491.1	51	0.00	0	C	XM_294567		38411522	38411522	-1	no_errors	ENST00000377694	ensembl	human	known	69_37n	missense	39	35.00	21	SNP	0.996	T
IGSF9	57549	genome.wustl.edu	37	1	159907572	159907572	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:159907572C>A	ENST00000368094.1	-	4	501	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	IGSF9_ENST00000361509.3_Missense_Mutation_p.D102Y	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	102	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCCCTGGTCTTCCACCCGG	0.587																																						dbGAP											0													89.0	73.0	79.0					1																	159907572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.304G>T	1.37:g.159907572C>A	ENSP00000357073:p.Asp102Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D102Y	ENST00000368094.1	37	c.304	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457479	0.84317	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.58797	0.31;0.31	4.3	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000573	T	0.79857	0.4518	H	0.95079	3.62	0.53688	D	0.999978	D;D	0.89917	0.988;1.0	P;D	0.91635	0.713;0.999	D	0.85741	0.1337	9	.	.	.	-23.4368	14.658	0.68847	0.0:1.0:0.0:0.0	.	102;102	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Y	102	ENSP00000355049:D102Y;ENSP00000357073:D102Y	.	D	-	1	0	IGSF9	158174196	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.984000	0.76186	2.386000	0.81285	0.508000	0.49915	GAC	IGSF9	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000085552		0.587	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	38	0.00	0	C	NM_020789		159907572	159907572	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	1.000	A
IHH	3549	genome.wustl.edu	37	2	219924996	219924996	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:219924996C>T	ENST00000295731.6	-	1	193	c.194G>A	c.(193-195)gGa>gAa	p.G65E	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	65					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCATAGCGTCCGCTGGCGCC	0.627																																						dbGAP											0													64.0	69.0	68.0					2																	219924996		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.194G>A	2.37:g.219924996C>T	ENSP00000295731:p.Gly65Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pfscan_Intein_splice_site,prints_Hedgehog	p.G65E	ENST00000295731.6	37	c.194	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379822	0.82682	.	.	ENSG00000163501	ENST00000295731	D	0.99881	-7.47	4.22	4.22	0.49857	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95804	0.8835	10	0.87932	D	0	-23.7165	16.401	0.83641	0.0:1.0:0.0:0.0	.	65	Q14623	IHH_HUMAN	E	65	ENSP00000295731:G65E	ENSP00000295731:G65E	G	-	2	0	IHH	219633240	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.377000	0.79668	2.180000	0.69256	0.555000	0.69702	GGA	IHH	-	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom	ENSG00000163501		0.627	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	41	0.00	0	C	NM_002181		219924996	219924996	-1	no_errors	ENST00000295731	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	1.000	T
IL1RL2	8808	genome.wustl.edu	37	2	102851456	102851456	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:102851456C>T	ENST00000264257.2	+	11	1523	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	IL1RL2_ENST00000539491.1_Missense_Mutation_p.S466L|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S348L|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	466	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AAGAACCTGTCAGAAGAACAA	0.512																																						dbGAP											0													119.0	112.0	114.0					2																	102851456		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1397C>T	2.37:g.102851456C>T	ENSP00000264257:p.Ser466Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.S466L	ENST00000264257.2	37	c.1397	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543811	0.65198	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.07688	3.17;3.17;3.17	5.27	5.27	0.74061	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.309963	0.31601	N	0.007370	T	0.14184	0.0343	L	0.48362	1.52	0.36488	D	0.868282	P;D	0.53885	0.936;0.963	P;P	0.56216	0.61;0.794	T	0.10132	-1.0643	10	0.09338	T	0.73	.	12.2668	0.54683	0.0:0.9219:0.0:0.0781	.	348;466	A4FU63;Q9HB29	.;ILRL2_HUMAN	L	466;348;466	ENSP00000264257:S466L;ENSP00000413348:S348L;ENSP00000442184:S466L	ENSP00000264257:S466L	S	+	2	0	IL1RL2	102217888	0.006000	0.16342	0.900000	0.35374	0.393000	0.30537	2.007000	0.40883	2.481000	0.83766	0.591000	0.81541	TCA	IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000115598		0.512	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	61	0.00	0	C	NM_003854		102851456	102851456	+1	no_errors	ENST00000264257	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	0.935	T
IHH	3549	genome.wustl.edu	37	2	219925074	219925074	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:219925074C>G	ENST00000295731.6	-	1	115	c.116G>C	c.(115-117)cGa>cCa	p.R39P	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	39					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTGGCGGTCGCCGGCGGCT	0.697																																						dbGAP											0													17.0	22.0	21.0					2																	219925074		2174	4270	6444	-	-	-	SO:0001583	missense	0			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.116G>C	2.37:g.219925074C>G	ENSP00000295731:p.Arg39Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pfscan_Intein_splice_site,prints_Hedgehog	p.R39P	ENST00000295731.6	37	c.116	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261121	0.59431	.	.	ENSG00000163501	ENST00000295731	D	0.99800	-6.8	3.98	3.1	0.35709	Hedgehog/DD-peptidase (1);Hedgehog, N-terminal signaling domain (1);	0.000000	0.64402	D	0.000001	D	0.99293	0.9753	L	0.44542	1.39	0.46078	D	0.998852	D	0.67145	0.996	P	0.58013	0.831	D	0.98532	1.0628	10	0.66056	D	0.02	-26.1312	9.3544	0.38157	0.0:0.8169:0.0:0.1831	.	39	Q14623	IHH_HUMAN	P	39	ENSP00000295731:R39P	ENSP00000295731:R39P	R	-	2	0	IHH	219633318	0.774000	0.28592	1.000000	0.80357	0.967000	0.64934	1.623000	0.37008	0.889000	0.36185	0.555000	0.69702	CGA	IHH	-	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom	ENSG00000163501		0.697	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	17	0.00	0	C	NM_002181		219925074	219925074	-1	no_errors	ENST00000295731	ensembl	human	known	69_37n	missense	11	52.17	12	SNP	0.989	G
IL2RB	3560	genome.wustl.edu	37	22	37539630	37539630	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr22:37539630G>C	ENST00000216223.5	-	3	332	c.134C>G	c.(133-135)tCc>tGc	p.S45C		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	45					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCAGACACAGGAGATGTTGGC	0.582																																						dbGAP											0													104.0	88.0	94.0					22																	37539630		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.134C>G	22.37:g.37539630G>C	ENSP00000216223:p.Ser45Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R765	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S45C	ENST00000216223.5	37	c.134	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910111	0.72983	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32	5.05	5.05	0.67936	Fibronectin, type III (1);	0.382652	0.30036	N	0.010578	D	0.97835	0.9289	M	0.63843	1.955	0.49389	D	0.999781	D	0.89917	1.0	D	0.83275	0.996	D	0.98256	1.0496	10	0.62326	D	0.03	-38.5701	13.8778	0.63665	0.0:0.0:1.0:0.0	.	45	P14784	IL2RB_HUMAN	C	45	ENSP00000216223:S45C;ENSP00000403731:S45C;ENSP00000402685:S45C;ENSP00000401020:S45C	ENSP00000216223:S45C	S	-	2	0	IL2RB	35869576	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.961000	0.63681	2.306000	0.77630	0.561000	0.74099	TCC	IL2RB	-	superfamily_Fibronectin_type3	ENSG00000100385		0.582	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	HGNC	protein_coding	OTTHUMT00000318792.1	18	0.00	0	G			37539630	37539630	-1	no_errors	ENST00000216223	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	1.000	C
QRICH1	54870	genome.wustl.edu	37	3	49065176	49065176	+	IGR	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:49065176G>C	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Silent_p.L166L|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTCCTCTTTGAGAAAATCAA	0.552																																						dbGAP											0													70.0	71.0	71.0					3																	49065176		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065176G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_FMN-dep_DH,pfam_2Npropane_dOase,smart_Cysta_beta_synth_core,pirsf_IMP_DH-rel	p.Q98E	ENST00000395443.2	37	c.292	CCDS2787.1	3	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990375	0.18966	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.96	5.08	0.68730	.	.	.	.	.	T	0.55273	0.1910	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52953	-0.8506	4	.	.	.	-21.1209	6.1129	0.20110	0.0724:0.2551:0.559:0.1135	.	.	.	.	E	98	.	.	Q	-	1	0	IMPDH2	49040180	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.918000	0.28678	2.824000	0.97209	0.655000	0.94253	CAA	IMPDH2	-	pfam_IMP_DH_GMPRt,smart_Cysta_beta_synth_core,pirsf_IMP_DH-rel	ENSG00000178035		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345669.1	36	0.00	0	G	NM_017730		49065176	49065176	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429182	ensembl	human	putative	69_37n	missense	20	42.86	15	SNP	1.000	C
IRAK1	3654	genome.wustl.edu	37	X	153281522	153281522	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:153281522C>G	ENST00000369980.3	-	10	1430	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	IRAK1_ENST00000393687.2_Missense_Mutation_p.Q421H|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.Q447H|IRAK1_ENST00000369974.2_Missense_Mutation_p.Q421H|IRAK1_ENST00000429936.2_Missense_Mutation_p.Q447H	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> H (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q421H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGCCCTCTGACCAGCCA	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	69.0	76.0					X																	153281522		2203	4300	6503	-	-	-	SO:0001583	missense	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1263G>C	X.37:g.153281522C>G	ENSP00000358997:p.Gln421His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q421H	ENST00000369980.3	37	c.1263	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.394971|1.394971	0.25205|0.25205	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000455690;ENST00000393687;ENST00000429936|ENST00000437278	T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19|.	4.87|4.87	1.99|1.99	0.26369|0.26369	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.276995|.	0.26069|.	N|.	0.026534|.	T|T	0.36991|0.36991	0.0987|0.0987	L|L	0.45051|0.45051	1.395|1.395	0.20307|0.20307	N|N	0.999915|0.999915	D;D;D|.	0.64830|.	0.991;0.994;0.993|.	P;D;P|.	0.64410|.	0.835;0.925;0.878|.	T|T	0.23048|0.23048	-1.0199|-1.0199	10|5	0.33940|.	T|.	0.23|.	-24.7999|-24.7999	6.8165|6.8165	0.23833|0.23833	0.1892:0.4487:0.3621:0.0|0.1892:0.4487:0.3621:0.0	.|.	421;421;421|.	P51617-4;P51617;P51617-2|.	.;IRAK1_HUMAN;.|.	H|T	421;421;447;1;421;447|94	ENSP00000358997:Q421H;ENSP00000358991:Q421H;ENSP00000377287:Q447H;ENSP00000377291:Q421H;ENSP00000392662:Q447H|.	ENSP00000358991:Q421H|.	Q|R	-|-	3|2	2|0	IRAK1|IRAK1	152934716|152934716	0.907000|0.907000	0.30839|0.30839	0.999000|0.999000	0.59377|0.59377	0.044000|0.044000	0.14063|0.14063	0.392000|0.392000	0.20801|0.20801	1.039000|1.039000	0.40074|0.40074	-0.343000|-0.343000	0.07986|0.07986	CAG|AGA	IRAK1	-	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	ENSG00000184216		0.622	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	34	0.00	0	C			153281522	153281522	-1	no_errors	ENST00000369980	ensembl	human	known	69_37n	missense	42	42.47	31	SNP	0.270	G
KCNJ12	3768	genome.wustl.edu	37	17	21319179	21319179	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:21319179C>T	ENST00000583088.1	+	3	1420	c.525C>T	c.(523-525)ttC>ttT	p.F175F	KCNJ12_ENST00000331718.5_Silent_p.F175F	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	175					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCGACTCCTTCATGATTGGTG	0.637										Prostate(3;0.18)																												dbGAP											0													87.0	81.0	83.0					17																	21319179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.525C>T	17.37:g.21319179C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.F175	ENST00000583088.1	37	c.525	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	60	0.00	0	C	NM_021012		21319179	21319179	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	1.000	T
KCNT2	343450	genome.wustl.edu	37	1	196300365	196300365	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:196300365G>A	ENST00000294725.9	-	18	2939	c.2024C>T	c.(2023-2025)tCt>tTt	p.S675F	KCNT2_ENST00000451324.2_Missense_Mutation_p.S286F|KCNT2_ENST00000609185.1_Missense_Mutation_p.S625F|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.S625F|KCNT2_ENST00000367433.5_Missense_Mutation_p.S675F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	675					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATATATGGAGAATAAGGTGG	0.343																																						dbGAP											0													143.0	157.0	153.0					1																	196300365		2203	4295	6498	-	-	-	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2024C>T	1.37:g.196300365G>A	ENSP00000294725:p.Ser675Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.S675F	ENST00000294725.9	37	c.2024	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859235	0.91433	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000006	D	0.92619	0.7655	M	0.87827	2.91	0.80722	D	1	P;D;D;P;P	0.56287	0.913;0.975;0.975;0.948;0.913	P;P;P;P;P	0.59643	0.56;0.861;0.861;0.817;0.56	D	0.93320	0.6692	10	0.66056	D	0.02	-19.2585	19.0484	0.93032	0.0:0.0:1.0:0.0	.	675;657;675;625;675	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	F	675;625;496;286;675	ENSP00000356403:S675F;ENSP00000356401:S625F;ENSP00000405474:S286F;ENSP00000294725:S675F	ENSP00000294725:S675F	S	-	2	0	KCNT2	194566988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.745000	0.94114	0.484000	0.47621	TCT	KCNT2	-	NULL	ENSG00000162687		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	34	0.00	0	G	NM_198503		196300365	196300365	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	missense	50	30.56	22	SNP	1.000	A
KDM5B	10765	genome.wustl.edu	37	1	202724449	202724449	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:202724449G>C	ENST00000367265.3	-	11	2652	c.1488C>G	c.(1486-1488)ttC>ttG	p.F496L	KDM5B_ENST00000367264.2_Missense_Mutation_p.F532L|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	496	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTGCCAACAGAATGAAGAAA	0.423																																						dbGAP											0													143.0	139.0	140.0					1																	202724449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1488C>G	1.37:g.202724449G>C	ENSP00000356234:p.Phe496Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.F496L	ENST00000367265.3	37	c.1488	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304199	0.81136	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72051	-0.62;-0.62;-0.62	5.73	2.41	0.29592	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	H	0.97659	4.05	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.88458	0.3053	10	0.87932	D	0	-20.1082	9.4403	0.38664	0.3963:0.0:0.6037:0.0	.	532;496	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	L	496;338;532;338	ENSP00000356234:F496L;ENSP00000356233:F532L;ENSP00000235790:F338L	ENSP00000235790:F338L	F	-	3	2	KDM5B	200991072	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.823000	0.39062	0.779000	0.33543	0.655000	0.94253	TTC	KDM5B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000117139		0.423	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	45	0.00	0	G	NM_006618		202724449	202724449	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	69	15.85	13	SNP	1.000	C
KIAA1024	23251	genome.wustl.edu	37	15	79750455	79750455	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:79750455G>A	ENST00000305428.3	+	2	2041	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	656						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGGTCCGTCTGATGACAGTGC	0.532																																						dbGAP											0													163.0	156.0	158.0					15																	79750455		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1966G>A	15.37:g.79750455G>A	ENSP00000307461:p.Asp656Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.D656N	ENST00000305428.3	37	c.1966	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581026	0.46006	.	.	ENSG00000169330	ENST00000305428	T	0.31769	1.48	5.59	5.59	0.84812	.	0.234953	0.42964	D	0.000629	T	0.35828	0.0945	L	0.60455	1.87	0.49051	D	0.999748	P	0.46395	0.877	P	0.45829	0.494	T	0.05886	-1.0858	9	.	.	.	.	12.8831	0.58028	0.0749:0.0:0.9251:0.0	.	656	Q9UPX6	K1024_HUMAN	N	656	ENSP00000307461:D656N	.	D	+	1	0	KIAA1024	77537510	0.971000	0.33674	0.706000	0.30403	0.957000	0.61999	2.857000	0.48349	2.634000	0.89283	0.591000	0.81541	GAT	KIAA1024	-	NULL	ENSG00000169330		0.532	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	35	0.00	0	G	NM_015206		79750455	79750455	+1	no_errors	ENST00000305428	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.890	A
KIAA1109	84162	genome.wustl.edu	37	4	123178623	123178623	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:123178623G>A	ENST00000264501.4	+	41	6965	c.6592G>A	c.(6592-6594)Gat>Aat	p.D2198N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D2198N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D2198N			Q2LD37	K1109_HUMAN	KIAA1109	2198					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACCAGTGCTGATGGAGCAGA	0.428																																						dbGAP											0													198.0	184.0	189.0					4																	123178623		1964	4164	6128	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6592G>A	4.37:g.123178623G>A	ENSP00000264501:p.Asp2198Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.D2198N	ENST00000264501.4	37	c.6592	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.474606	0.96291	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.36878	1.8;1.8;1.23	6.08	6.08	0.98989	.	0.000000	0.52532	U	0.000078	T	0.39306	0.1073	N	0.24115	0.695	0.58432	D	0.999994	P;P;P	0.52316	0.72;0.93;0.952	B;P;B	0.50440	0.35;0.641;0.439	T	0.04400	-1.0954	10	0.39692	T	0.17	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	2198;2197;2198	Q2LD37-6;Q2LD37-2;Q2LD37	.;.;K1109_HUMAN	N	2198	ENSP00000264501:D2198N;ENSP00000373390:D2198N;ENSP00000389925:D2198N	ENSP00000264501:D2198N	D	+	1	0	KIAA1109	123398073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.394000	0.97261	2.894000	0.99253	0.591000	0.81541	GAT	KIAA1109	-	NULL	ENSG00000138688		0.428	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	75	0.00	0	G	NM_020797		123178623	123178623	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	61	32.22	29	SNP	1.000	A
KIAA1841	84542	genome.wustl.edu	37	2	61324843	61324843	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:61324843C>G	ENST00000402291.1	+	12	1462	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	KIAA1841_ENST00000295031.5_Silent_p.L407L|KIAA1841_ENST00000453873.1_Silent_p.L407L|KIAA1841_ENST00000356719.2_Silent_p.L407L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	407										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGGCCTTTCTCTGTATTGAAT	0.318																																						dbGAP											0													120.0	114.0	116.0					2																	61324843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1221C>G	2.37:g.61324843C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.L407	ENST00000402291.1	37	c.1221	CCDS46296.1	2																																																																																			KIAA1841	-	pfam_DUF3342	ENSG00000162929		0.318	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	108	0.00	0	C	NM_032506		61324843	61324843	+1	no_errors	ENST00000356719	ensembl	human	known	69_37n	silent	113	29.38	47	SNP	1.000	G
KIF13B	23303	genome.wustl.edu	37	8	28967486	28967486	+	Silent	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:28967486G>C	ENST00000524189.1	-	33	4070	c.4032C>G	c.(4030-4032)ctC>ctG	p.L1344L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1344					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCACGCTCCTGAGGTACTTTT	0.542																																						dbGAP											0													55.0	54.0	54.0					8																	28967486		1988	4179	6167	-	-	-	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4032C>G	8.37:g.28967486G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1344	ENST00000524189.1	37	c.4032	CCDS55217.1	8																																																																																			KIF13B	-	NULL	ENSG00000197892		0.542	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	45	0.00	0	G			28967486	28967486	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	silent	19	55.81	24	SNP	0.050	C
KIF15	56992	genome.wustl.edu	37	3	44839448	44839448	+	Splice_Site	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:44839448G>C	ENST00000326047.4	+	10	1247	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	366					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTAAAAACAAGGTAAAATACT	0.328																																						dbGAP											0													44.0	42.0	42.0					3																	44839448		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1098+1G>C	3.37:g.44839448G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K366N	ENST00000326047.4	37	c.1098	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708504	0.89018	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.73363	-0.74;-0.74	5.37	5.37	0.77165	Kinesin, motor domain (2);	0.000000	0.53938	D	0.000048	T	0.81578	0.4852	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.79065	-0.1956	10	0.33141	T	0.24	.	19.1155	0.93336	0.0:0.0:1.0:0.0	.	366	Q9NS87	KIF15_HUMAN	N	366;138;365	ENSP00000324020:K366N;ENSP00000425499:K138N	ENSP00000324020:K366N	K	+	3	2	KIF15	44814452	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.476000	0.97823	2.519000	0.84933	0.462000	0.41574	AAG	KIF15	-	smart_Kinesin_motor_dom	ENSG00000163808		0.328	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	42	0.00	0	G		Missense_Mutation	44839448	44839448	+1	no_errors	ENST00000326047	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	C
KIF2C	11004	genome.wustl.edu	37	1	45205697	45205697	+	Intron	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:45205697C>A	ENST00000372224.4	+	1	183				KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GTCCCTAGGTCAAGGGGACTC	0.582																																						dbGAP											0													149.0	150.0	149.0					1																	45205697		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.70+23C>A	1.37:g.45205697C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Nonsense_Mutation	SNP	NULL	p.S9*	ENST00000372224.4	37	c.26	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.166522	0.78339	.	.	ENSG00000142945	ENST00000455186	.	.	.	5.32	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.0776	0.09911	0.1636:0.5909:0.1583:0.0872	.	.	.	.	X	9	.	ENSP00000395050:S9X	S	+	2	0	KIF2C	44978284	0.004000	0.15560	0.004000	0.12327	0.039000	0.13416	0.614000	0.24314	0.807000	0.34208	0.555000	0.69702	TCA	KIF2C	-	NULL	ENSG00000142945		0.582	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	60	0.00	0	C	NM_006845		45205697	45205697	+1	no_stop_codon	ENST00000455186	ensembl	human	known	69_37n	nonsense	36	40.00	24	SNP	0.001	A
ATG4D	84971	genome.wustl.edu	37	19	10664628	10664628	+	IGR	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:10664628C>T	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Silent_p.*710*|MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000361821.5_Silent_p.*706*|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCTGGTGCTCAGGAGCTGTT	0.622																																						dbGAP											0													16.0	16.0	16.0					19																	10664628		2202	4297	6499	-	-	-	SO:0001628	intergenic_variant	0			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10664628C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q969K0	Silent	SNP	pfam_KRR1-interact_protein_1	p.*710	ENST00000309469.4	37	c.2129	CCDS12241.1	19																																																																																			KRI1	-	NULL	ENSG00000129347		0.622	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452022.1	45	0.00	0	C	NM_032885		10664628	10664628	-1	no_errors	ENST00000312962	ensembl	human	known	69_37n	silent	28	37.78	17	SNP	1.000	T
KRT10	3858	genome.wustl.edu	37	17	38978658	38978658	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:38978658C>T	ENST00000269576.5	-	1	189	c.180G>A	c.(178-180)ggG>ggA	p.G60G	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	60	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CACCAGAGCTCCCACGGCTAA	0.547																																						dbGAP											0													76.0	87.0	83.0					17																	38978658		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.180G>A	17.37:g.38978658C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14664|Q8N175	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G60	ENST00000269576.5	37	c.180	CCDS11377.1	17																																																																																			KRT10	-	NULL	ENSG00000186395		0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	65	0.00	0	C	NM_000421		38978658	38978658	-1	no_errors	ENST00000269576	ensembl	human	known	69_37n	silent	59	41.58	42	SNP	0.996	T
KRTAP10-4	386672	genome.wustl.edu	37	21	45993735	45993735	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr21:45993735G>A	ENST00000400374.3	+	1	130	c.100G>A	c.(100-102)Gag>Aag	p.E34K	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	34						keratin filament (GO:0045095)		p.E34K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CGACTGCCCAGAGAGCTGCTG	0.692																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											51.0	55.0	54.0					21																	45993735		2020	4159	6179	-	-	-	SO:0001583	missense	0			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.100G>A	21.37:g.45993735G>A	ENSP00000383225:p.Glu34Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AS0	Missense_Mutation	SNP	NULL	p.E34K	ENST00000400374.3	37	c.100	CCDS42957.1	21	.	.	.	.	.	.	.	.	.	.	N	15.17	2.754995	0.49362	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.13778	2.56	4.69	4.69	0.59074	.	.	.	.	.	T	0.24812	0.0602	M	0.84082	2.675	0.26276	N	0.978347	P	0.41748	0.761	B	0.41466	0.358	T	0.16512	-1.0400	9	0.66056	D	0.02	.	13.4333	0.61068	0.0:0.0:1.0:0.0	.	34	P60372	KR104_HUMAN	K	34;23	ENSP00000383225:E34K	ENSP00000333987:E23K	E	+	1	0	KRTAP10-4	44818163	0.802000	0.28943	1.000000	0.80357	0.523000	0.34469	2.295000	0.43576	2.300000	0.77407	0.484000	0.47621	GAG	KRTAP10-4	-	NULL	ENSG00000215454		0.692	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	60	0.00	0	G	NM_198687		45993735	45993735	+1	no_errors	ENST00000400374	ensembl	human	known	69_37n	missense	34	43.33	26	SNP	1.000	A
L3MBTL1	26013	genome.wustl.edu	37	20	42157310	42157310	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr20:42157310G>A	ENST00000427442.2	+	8	969	c.810G>A	c.(808-810)aaG>aaA	p.K270K	L3MBTL1_ENST00000444063.1_Silent_p.K202K|L3MBTL1_ENST00000373135.3_Silent_p.K202K|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373134.1_Silent_p.K202K|L3MBTL1_ENST00000418998.1_Silent_p.K270K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	202					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CAGGTGAGAAGAAGGAATGCT	0.532																																						dbGAP											0													111.0	89.0	96.0					20																	42157310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.810G>A	20.37:g.42157310G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	NULL	p.R149K	ENST00000427442.2	37	c.446	CCDS46602.2	20																																																																																			L3MBTL1	-	NULL	ENSG00000185513		0.532	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	45	0.00	0	G	NM_032107		42157310	42157310	+1	no_errors	ENST00000457824	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	1.000	A
LAMC3	10319	genome.wustl.edu	37	9	133901845	133901845	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:133901845G>A	ENST00000361069.4	+	2	680	c.547G>A	c.(547-549)Gag>Aag	p.E183K	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	183	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCGCCCCGGCGAGGACGAGCG	0.716																																						dbGAP											0													30.0	33.0	32.0					9																	133901845		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.547G>A	9.37:g.133901845G>A	ENSP00000354360:p.Glu183Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E183K	ENST00000361069.4	37	c.547	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951432	0.53186	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.75260	-0.92	5.93	-1.06	0.10002	Laminin, N-terminal (3);	0.341311	0.33916	N	0.004437	T	0.78861	0.4350	L	0.39397	1.21	0.40998	D	0.984901	D	0.67145	0.996	P	0.58620	0.842	T	0.78290	-0.2261	10	0.49607	T	0.09	.	23.2221	0.99981	0.0:0.7362:0.2638:0.0	.	183	Q9Y6N6	LAMC3_HUMAN	K	183	ENSP00000354360:E183K	ENSP00000325873:E183K	E	+	1	0	LAMC3	132891666	0.998000	0.40836	0.109000	0.21407	0.004000	0.04260	2.666000	0.46799	-0.518000	0.06452	-0.175000	0.13238	GAG	LAMC3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000050555		0.716	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	13	0.00	0	G	NM_006059		133901845	133901845	+1	no_errors	ENST00000361069	ensembl	human	known	69_37n	missense	13	51.85	14	SNP	0.786	A
LCE1E	353135	genome.wustl.edu	37	1	152759897	152759897	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:152759897C>G	ENST00000368770.3	+	2	175	c.122C>G	c.(121-123)tCt>tGt	p.S41C	LCE1E_ENST00000368771.1_Missense_Mutation_p.S41C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	41	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCAGTCTCTTCCTGCTGC	0.662																																						dbGAP											0													71.0	76.0	75.0					1																	152759897		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.122C>G	1.37:g.152759897C>G	ENSP00000357759:p.Ser41Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV30	Missense_Mutation	SNP	NULL	p.S41C	ENST00000368770.3	37	c.122	CCDS1024.1	1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247818	0.22880	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.05855	3.38;3.38	4.06	4.06	0.47325	.	0.252307	0.21026	N	0.081427	T	0.06280	0.0162	L	0.39633	1.23	0.25512	N	0.987451	D	0.65815	0.995	P	0.55824	0.785	T	0.07908	-1.0748	10	0.87932	D	0	.	11.9094	0.52731	0.0:1.0:0.0:0.0	.	41	Q5T753	LCE1E_HUMAN	C	41	ENSP00000357760:S41C;ENSP00000357759:S41C	ENSP00000357759:S41C	S	+	2	0	LCE1E	151026521	0.040000	0.19996	0.945000	0.38365	0.887000	0.51463	1.216000	0.32443	2.237000	0.73441	0.514000	0.50259	TCT	LCE1E	-	NULL	ENSG00000186226		0.662	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	101	0.00	0	C	NM_178353		152759897	152759897	+1	no_errors	ENST00000368770	ensembl	human	known	69_37n	missense	155	16.22	30	SNP	0.985	G
LPPR3	79948	genome.wustl.edu	37	19	814640	814640	+	Intron	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:814640C>G	ENST00000520876.3	-	7	736				MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.E237Q	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN								integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AGGGAGGGCTCCCCACGGGTC	0.652																																						dbGAP											0													52.0	54.0	53.0					19																	814640		2196	4299	6495	-	-	-	SO:0001627	intron_variant	0																														ENST00000520876.3:c.658-33G>C	19.37:g.814640C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E237Q	ENST00000520876.3	37	c.709	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	C	7.593	0.671074	0.14776	.	.	ENSG00000129951	ENST00000359894	T	0.22539	1.95	2.58	0.142	0.14816	.	15.374300	0.00424	U	0.000075	T	0.12050	0.0293	.	.	.	0.09310	N	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.16778	-1.0391	8	.	.	.	.	3.5333	0.07785	0.0:0.5025:0.2083:0.2891	.	237	Q6T4P5-3	.	Q	237	ENSP00000352962:E237Q	.	E	-	1	0	AC006273.1	765640	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-3.086000	0.00611	0.057000	0.16193	0.305000	0.20034	GAG	hsa-mir-3187	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.652	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	miRBase	protein_coding	OTTHUMT00000379096.3	27	0.00	0	C			814640	814640	-1	no_errors	ENST00000359894	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	0.000	G
LDLR	3949	genome.wustl.edu	37	19	11216172	11216172	+	Missense_Mutation	SNP	G	G	A	rs376459828		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:11216172G>A	ENST00000558518.1	+	4	777	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	LDLR_ENST00000535915.1_Missense_Mutation_p.C156Y|LDLR_ENST00000557933.1_Missense_Mutation_p.C197Y|LDLR_ENST00000558013.1_Missense_Mutation_p.C197Y|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	197	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.		C -> F (in Shreveport).|C -> R (in FH; British patient). {ECO:0000269|PubMed:9026534}.|C -> Y (in El Salvador-1).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGTAGCCCCTGCTCGGCCTTC	0.612																																					GBM(18;201 575 7820 21545)	dbGAP											1	Unknown(1)	lung(1)	GRCh37	CM920417|CM920418	LDLR	M							46.0	51.0	49.0					19																	11216172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.590G>A	19.37:g.11216172G>A	ENSP00000454071:p.Cys197Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C197Y	ENST00000558518.1	37	c.590	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017471	0.54576	.	.	ENSG00000130164	ENST00000252444;ENST00000535915	D	0.99519	-6.07	5.6	4.55	0.56014	.	0.000000	0.64402	D	0.000004	D	0.99789	0.9911	H	0.99525	4.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.995	D	0.96615	0.9455	10	0.87932	D	0	.	15.5656	0.76290	0.0:0.1385:0.8615:0.0	.	76;156;209;197	B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;LDLR_HUMAN	Y	197;156	ENSP00000440520:C156Y	ENSP00000252444:C197Y	C	+	2	0	LDLR	11077172	1.000000	0.71417	0.858000	0.33744	0.081000	0.17604	6.224000	0.72265	1.345000	0.45676	0.591000	0.81541	TGC	LDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000130164		0.612	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	21	0.00	0	G			11216172	11216172	+1	no_errors	ENST00000558518	ensembl	human	known	69_37n	missense	19	47.22	17	SNP	1.000	A
LRBA	987	genome.wustl.edu	37	4	151818935	151818935	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:151818935G>C	ENST00000357115.3	-	15	2203	c.1960C>G	c.(1960-1962)Cta>Gta	p.L654V	LRBA_ENST00000510413.1_Missense_Mutation_p.L654V|LRBA_ENST00000535741.1_Missense_Mutation_p.L654V|LRBA_ENST00000507224.1_Missense_Mutation_p.L654V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	654						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGCTCGTAGAGAAAGCATT	0.333																																						dbGAP											0													86.0	80.0	82.0					4																	151818935		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1960C>G	4.37:g.151818935G>C	ENSP00000349629:p.Leu654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.L654V	ENST00000357115.3	37	c.1960	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807705	0.70797	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.83	4.04	0.47022	Armadillo-type fold (1);	0.000000	0.56097	D	0.000022	T	0.70422	0.3222	M	0.63428	1.95	0.53688	D	0.999972	D;D	0.71674	0.997;0.998	D;D	0.83275	0.992;0.996	T	0.66436	-0.5924	10	0.26408	T	0.33	.	12.85	0.57852	0.0998:0.0:0.9002:0.0	.	654;654	P50851;P50851-2	LRBA_HUMAN;.	V	654	ENSP00000446299:L654V;ENSP00000421552:L654V;ENSP00000349629:L654V;ENSP00000422180:L654V	ENSP00000349629:L654V	L	-	1	2	LRBA	152038385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.325000	0.43840	0.742000	0.32697	0.585000	0.79938	CTA	LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	49	0.00	0	G			151818935	151818935	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	38	35.59	21	SNP	1.000	C
LRGUK	136332	genome.wustl.edu	37	7	133943091	133943091	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:133943091G>C	ENST00000285928.2	+	19	2350	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	761						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCAGCCTCCGGAGGGGAGCAT	0.498																																						dbGAP											0													108.0	99.0	102.0					7																	133943091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2281G>C	7.37:g.133943091G>C	ENSP00000285928:p.Glu761Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.E761Q	ENST00000285928.2	37	c.2281	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292846	0.23564	.	.	ENSG00000155530	ENST00000285928	T	0.36520	1.25	3.58	1.78	0.24846	.	0.270973	0.27437	N	0.019368	T	0.21347	0.0514	L	0.32530	0.975	0.09310	N	1	B	0.33694	0.421	B	0.27380	0.079	T	0.13629	-1.0502	10	0.59425	D	0.04	-8.6264	5.5947	0.17321	0.2478:0.0:0.7522:0.0	.	761	Q96M69	LRGUK_HUMAN	Q	761	ENSP00000285928:E761Q	ENSP00000285928:E761Q	E	+	1	0	LRGUK	133593631	0.022000	0.18835	0.018000	0.16275	0.087000	0.18053	0.205000	0.17356	0.507000	0.28148	0.650000	0.86243	GAG	LRGUK	-	NULL	ENSG00000155530		0.498	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	76	0.00	0	G	NM_144648		133943091	133943091	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	missense	78	15.22	14	SNP	0.022	C
LRGUK	136332	genome.wustl.edu	37	7	133948633	133948633	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:133948633C>T	ENST00000285928.2	+	20	2453	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	795						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAAAAAGAGTCTCACCAACAC	0.453																																						dbGAP											0													131.0	108.0	116.0					7																	133948633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2384C>T	7.37:g.133948633C>T	ENSP00000285928:p.Ser795Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.S795F	ENST00000285928.2	37	c.2384	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363845	0.41902	.	.	ENSG00000155530	ENST00000285928	T	0.39997	1.05	4.46	2.47	0.30058	.	1.103640	0.06909	N	0.807233	T	0.25382	0.0617	N	0.19112	0.55	0.09310	N	1	P	0.36616	0.561	B	0.31191	0.125	T	0.23440	-1.0188	10	0.87932	D	0	0.5157	4.4326	0.11535	0.2858:0.5998:0.0:0.1144	.	795	Q96M69	LRGUK_HUMAN	F	795	ENSP00000285928:S795F	ENSP00000285928:S795F	S	+	2	0	LRGUK	133599173	0.001000	0.12720	0.001000	0.08648	0.495000	0.33615	0.845000	0.27668	0.645000	0.30675	0.655000	0.94253	TCT	LRGUK	-	NULL	ENSG00000155530		0.453	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	65	0.00	0	C	NM_144648		133948633	133948633	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	missense	46	40.26	31	SNP	0.001	T
LRIT3	345193	genome.wustl.edu	37	4	110772990	110772990	+	Silent	SNP	C	C	T	rs567813725		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:110772990C>T	ENST00000594814.1	+	2	447	c.447C>T	c.(445-447)ctC>ctT	p.L149L	LRIT3_ENST00000327908.3_5'UTR|LRIT3_ENST00000379920.3_Silent_p.L104L	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	149					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ATGAGGCGCTCAGGTATCTGA	0.488																																						dbGAP											0													69.0	57.0	60.0					4																	110772990		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.447C>T	4.37:g.110772990C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1C2|Q6ZTG1	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L104	ENST00000594814.1	37	c.312	CCDS3688.3	4																																																																																			LRIT3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000183423		0.488	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	37	0.00	0	C	NM_198506		110772990	110772990	+1	no_errors	ENST00000379920	ensembl	human	known	69_37n	silent	34	32.00	16	SNP	0.001	T
LRRIQ1	84125	genome.wustl.edu	37	12	85531727	85531727	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:85531727G>A	ENST00000393217.2	+	19	4370	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1437										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATAGATTTAGAGGATTTTAT	0.308																																						dbGAP											0													70.0	66.0	67.0					12																	85531727		1783	4056	5839	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4309G>A	12.37:g.85531727G>A	ENSP00000376910:p.Glu1437Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1437K	ENST00000393217.2	37	c.4309	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452023	0.43531	.	.	ENSG00000133640	ENST00000393217	T	0.52057	0.68	5.56	1.64	0.23874	.	.	.	.	.	T	0.30262	0.0759	N	0.19112	0.55	0.28186	N	0.927969	B	0.21381	0.055	B	0.15870	0.014	T	0.23297	-1.0192	9	0.72032	D	0.01	.	7.0553	0.25095	0.2079:0.1252:0.6669:0.0	.	1437	Q96JM4	LRIQ1_HUMAN	K	1437	ENSP00000376910:E1437K	ENSP00000376910:E1437K	E	+	1	0	LRRIQ1	84055858	1.000000	0.71417	0.987000	0.45799	0.823000	0.46562	3.485000	0.53208	0.284000	0.22305	-0.145000	0.13849	GAG	LRRIQ1	-	NULL	ENSG00000133640		0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	62	0.00	0	G	NM_032165		85531727	85531727	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	1.000	A
LSP1	4046	genome.wustl.edu	37	11	1904706	1904706	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:1904706G>A	ENST00000311604.3	+	4	589	c.414G>A	c.(412-414)ttG>ttA	p.L138L	LSP1_ENST00000405957.2_Silent_p.L76L|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000406638.2_Silent_p.L76L|LSP1_ENST00000381775.1_Silent_p.L266L	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	138					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGGAGGAGTTGAGTCTGAGCA	0.622																																						dbGAP											0													75.0	77.0	76.0					11																	1904706		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.414G>A	11.37:g.1904706G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.L138	ENST00000311604.3	37	c.414	CCDS31334.1	11																																																																																			LSP1	-	prints_Lymphspecific	ENSG00000130592		0.622	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	30	0.00	0	G	NM_002339		1904706	1904706	+1	no_errors	ENST00000311604	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	0.000	A
LY9	4063	genome.wustl.edu	37	1	160794000	160794000	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:160794000G>A	ENST00000263285.6	+	9	1890	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Silent_p.E490E|LY9_ENST00000341032.4_Silent_p.E486E|LY9_ENST00000368037.5_Silent_p.E606E|LY9_ENST00000392203.4_Silent_p.E530E			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	620					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAGGAAGAGAGCTCAGCCA	0.488																																						dbGAP											0													179.0	173.0	175.0					1																	160794000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1860G>A	1.37:g.160794000G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.E620	ENST00000263285.6	37	c.1860	CCDS30916.1	1																																																																																			LY9	-	NULL	ENSG00000122224		0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	62	0.00	0	G	NM_002348		160794000	160794000	+1	no_errors	ENST00000263285	ensembl	human	known	69_37n	silent	85	27.35	32	SNP	0.000	A
MADD	8567	genome.wustl.edu	37	11	47330876	47330876	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:47330876G>A	ENST00000311027.5	+	27	4141	c.3976G>A	c.(3976-3978)Gat>Aat	p.D1326N	MADD_ENST00000395336.3_Missense_Mutation_p.D1326N|MADD_ENST00000395344.3_Missense_Mutation_p.D1220N|MADD_ENST00000402192.2_Missense_Mutation_p.D1266N|MADD_ENST00000402799.1_Missense_Mutation_p.D1224N|MADD_ENST00000406482.1_Missense_Mutation_p.D1224N|MADD_ENST00000342922.4_Missense_Mutation_p.D1267N|MADD_ENST00000405573.2_Missense_Mutation_p.D136N|MADD_ENST00000349238.3_Missense_Mutation_p.D1287N|MADD_ENST00000407859.3_Missense_Mutation_p.D1244N	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATTCTGGGAAGATGCCTTCTT	0.453																																						dbGAP											0													115.0	115.0	115.0					11																	47330876		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3976G>A	11.37:g.47330876G>A	ENSP00000310933:p.Asp1326Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D1326N	ENST00000311027.5	37	c.3976	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507798	0.85282	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.56444	2.97;2.79;2.76;2.98;3.0;2.79;2.81;2.98;2.97;0.46	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.29908	0.895	0.80722	D	1	P;P;P;D;P;P;P;D;D;D;D	0.76494	0.712;0.925;0.874;0.999;0.923;0.955;0.955;0.998;0.999;0.998;0.998	B;B;B;D;B;B;B;D;D;D;D	0.87578	0.327;0.194;0.194;0.998;0.355;0.355;0.355;0.998;0.998;0.996;0.998	T	0.57201	-0.7852	10	0.23891	T	0.37	-15.4982	18.7242	0.91708	0.0:0.0:1.0:0.0	.	136;1220;1220;1326;1224;1224;1224;1287;1244;1326;1267	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	N	1267;1224;1224;1224;1287;1326;1244;1220;1326;1266;136	ENSP00000343902:D1267N;ENSP00000385585:D1224N;ENSP00000384435:D1224N;ENSP00000304505:D1287N;ENSP00000310933:D1326N;ENSP00000384204:D1244N;ENSP00000378753:D1220N;ENSP00000378745:D1326N;ENSP00000384287:D1266N;ENSP00000384483:D136N	ENSP00000310933:D1326N	D	+	1	0	MADD	47287452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.205000	0.95048	2.409000	0.81822	0.563000	0.77884	GAT	MADD	-	NULL	ENSG00000110514		0.453	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	114	0.00	0	G			47330876	47330876	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	missense	95	19.49	23	SNP	1.000	A
MAGEA12	4111	genome.wustl.edu	37	X	151899872	151899872	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:151899872C>G	ENST00000357916.4	-	2	1084	c.929G>C	c.(928-930)aGa>aCa	p.R310T	MAGEA12_ENST00000393869.3_Missense_Mutation_p.R310T|MAGEA12_ENST00000393900.3_Missense_Mutation_p.R310T|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	310										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCCCTCTCTAAAAGCCCA	0.552																																						dbGAP											0													130.0	127.0	128.0					X																	151899872		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.929G>C	X.37:g.151899872C>G	ENSP00000350592:p.Arg310Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R310T	ENST00000357916.4	37	c.929	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435202	0.25813	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.02301	4.35;4.35;4.35	0.809	0.809	0.18725	.	1.204200	0.05685	N	0.591225	T	0.07728	0.0194	M	0.83483	2.645	0.09310	N	1	P	0.41313	0.745	P	0.46850	0.529	T	0.33904	-0.9850	9	0.59425	D	0.04	.	.	.	.	.	310	P43365	MAGAC_HUMAN	T	310	ENSP00000350592:R310T;ENSP00000377447:R310T;ENSP00000377478:R310T	ENSP00000350592:R310T	R	-	2	0	MAGEA12	151650528	0.001000	0.12720	0.055000	0.19348	0.041000	0.13682	0.130000	0.15850	0.675000	0.31264	0.181000	0.17075	AGA	MAGEA12	-	NULL	ENSG00000213401		0.552	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	126	0.00	0	C	NM_005367		151899872	151899872	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	missense	84	44.37	67	SNP	0.054	G
MAGI3	260425	genome.wustl.edu	37	1	114128110	114128110	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:114128110C>G	ENST00000307546.9	+	4	730	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	MAGI3_ENST00000369611.4_Missense_Mutation_p.Q219E|MAGI3_ENST00000369615.1_Missense_Mutation_p.Q219E|MAGI3_ENST00000369617.4_Missense_Mutation_p.Q219E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	219	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAGAATCTCAAAGAAAACG	0.443																																						dbGAP											0													86.0	83.0	84.0					1																	114128110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.655C>G	1.37:g.114128110C>G	ENSP00000304604:p.Gln219Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.Q219E	ENST00000307546.9	37	c.655	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894122	0.33442	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.15834	2.56;2.39;2.57;2.57	5.77	5.77	0.91146	.	0.056799	0.64402	D	0.000001	T	0.25494	0.0620	L	0.47716	1.5	0.58432	D	0.999992	D;P;P	0.61080	0.989;0.829;0.73	P;B;P	0.58780	0.845;0.393;0.492	T	0.00216	-1.1910	10	0.52906	T	0.07	-23.2311	20.3559	0.98840	0.0:1.0:0.0:0.0	.	219;219;219	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	E	219	ENSP00000358630:Q219E;ENSP00000304604:Q219E;ENSP00000358628:Q219E;ENSP00000358624:Q219E	ENSP00000304604:Q219E	Q	+	1	0	MAGI3	113929633	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.568000	0.67385	2.890000	0.99128	0.585000	0.79938	CAA	MAGI3	-	smart_Guanylate_kin/L-typ_Ca_channel	ENSG00000081026		0.443	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	50	0.00	0	C	NM_152900		114128110	114128110	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	missense	57	25.00	19	SNP	1.000	G
MAMDC4	158056	genome.wustl.edu	37	9	139753465	139753465	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:139753465G>A	ENST00000317446.2	+	24	3015	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.E1068K	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGACAAGGGGGAGCTGAAGGT	0.711																																						dbGAP											0													15.0	18.0	17.0					9																	139753465		2152	4255	6407	-	-	-	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2965G>A	9.37:g.139753465G>A	ENSP00000319388:p.Glu989Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom	p.E1068K	ENST00000317446.2	37	c.3202	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.586483|4.586483	0.86851|0.86851	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02103|.	4.45;4.45|.	4.95|4.95	4.04|4.04	0.47022|0.47022	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.000000|.	0.56097|.	D|.	0.000023|.	T|T	0.63570|0.63570	0.2522|0.2522	L|L	0.52126|0.52126	1.63|1.63	0.36047|0.36047	D|D	0.840464|0.840464	D;D|.	0.54772|.	0.968;0.966|.	P;P|.	0.60949|.	0.866;0.881|.	T|T	0.72121|0.72121	-0.4386|-0.4386	10|6	0.07030|0.54805	T|T	0.85|0.06	-29.3879|-29.3879	14.3802|14.3802	0.66907|0.66907	0.0:0.149:0.851:0.0|0.0:0.149:0.851:0.0	.|.	1068;989|.	Q6UXC1;Q6UXC1-2|.	AEGP_HUMAN;.|.	K|E	989;1068|1053	ENSP00000319388:E989K;ENSP00000411339:E1068K|.	ENSP00000319388:E989K|ENSP00000400009:G1053E	E|G	+|+	1|2	0|0	MAMDC4|MAMDC4	138873286|138873286	0.021000|0.021000	0.18746|0.18746	0.647000|0.647000	0.29507|0.29507	0.829000|0.829000	0.46940|0.46940	0.201000|0.201000	0.17276|0.17276	1.059000|1.059000	0.40554|0.40554	0.561000|0.561000	0.74099|0.74099	GAG|GGA	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.711	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3	26	0.00	0	G	NM_206920		139753465	139753465	+1	no_errors	ENST00000445819	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	0.973	A
MBTPS2	51360	genome.wustl.edu	37	X	21871530	21871530	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:21871530C>G	ENST00000379484.5	+	5	678	c.579C>G	c.(577-579)ctC>ctG	p.L193L	MBTPS2_ENST00000365779.2_Silent_p.L193L|YY2_ENST00000429584.2_5'Flank|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	193					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGATTTTTCTCTTCATTATTT	0.333																																						dbGAP											0													145.0	136.0	139.0					X																	21871530		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.579C>G	X.37:g.21871530C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM70|Q9UMD3	Silent	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP	p.L193	ENST00000379484.5	37	c.579	CCDS14201.1	X																																																																																			MBTPS2	-	pfam_Peptidase_M50,prints_Pept_M50_SREBP	ENSG00000012174		0.333	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	232	0.00	0	C			21871530	21871530	+1	no_errors	ENST00000379484	ensembl	human	known	69_37n	silent	170	42.76	127	SNP	1.000	G
MDC1	9656	genome.wustl.edu	37	6	30673173	30673173	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:30673173C>G	ENST00000376406.3	-	10	4434	c.3787G>C	c.(3787-3789)Gag>Cag	p.E1263Q	MDC1_ENST00000376405.2_Missense_Mutation_p.E999Q|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1263	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TATGTGGGCTCAGAAGTGACA	0.552								Other conserved DNA damage response genes																														dbGAP											0													131.0	149.0	143.0					6																	30673173		2201	4297	6498	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3787G>C	6.37:g.30673173C>G	ENSP00000365588:p.Glu1263Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.E1263Q	ENST00000376406.3	37	c.3787	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	C	8.271	0.813355	0.16537	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.10099	2.91;2.91	3.15	-2.22	0.06952	.	1.819060	0.03513	N	0.219884	T	0.05044	0.0135	L	0.56769	1.78	0.09310	N	1	D;P	0.54964	0.969;0.816	P;B	0.50314	0.637;0.291	T	0.35151	-0.9800	10	0.07325	T	0.83	.	7.7425	0.28849	0.0:0.3521:0.0:0.6479	.	999;1263	Q14676-2;Q14676	.;MDC1_HUMAN	Q	1263;999;870	ENSP00000365588:E1263Q;ENSP00000365587:E999Q	ENSP00000365587:E999Q	E	-	1	0	MDC1	30781152	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.537000	0.00219	-0.555000	0.06142	-0.361000	0.07541	GAG	MDC1	-	NULL	ENSG00000137337		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	136	0.00	0	C	NM_014641		30673173	30673173	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	98	39.51	64	SNP	0.000	G
MIR516B2	574485	genome.wustl.edu	37	19	54230210	54230210	+	RNA	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:54230210G>A	ENST00000385190.1	+	0	85				MIR518E_ENST00000385252.1_RNA|MIR526A2_ENST00000390198.1_RNA	NR_030207.1				microRNA 516b-2																		TCTGTTGAAAGAAAAGAACAT	0.408																																						dbGAP											0													212.0	181.0	191.0					19																	54230210		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207925	ENSG00000207925		"""ncRNAs / Micro RNAs"""	32117	non-coding RNA	RNA, micro			"""microRNA 516-3"""	MIRN516-3, MIRN516B2			Standard	NR_030207		Approved	hsa-mir-516-3, hsa-mir-516b-2	uc021vak.1				19.37:g.54230210G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000385190.1	37	NULL		19																																																																																			MIR526A2	-	-	ENSG00000211532		0.408	MIR516B2-201	KNOWN	basic	miRNA	MIR526A2	HGNC	miRNA		99	0.00	0	G	NR_030207		54230210	54230210	+1	no_errors	ENST00000390198	ensembl	human	known	69_37n	rna	86	40.28	58	SNP	0.112	A
MLIP	90523	genome.wustl.edu	37	6	54025334	54025334	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:54025334C>T	ENST00000274897.5	+	6	884	c.771C>T	c.(769-771)ctC>ctT	p.L257L	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000514921.1_Silent_p.L781L|MLIP_ENST00000502396.1_Silent_p.L792L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	257						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGCACAGCTCAGGCAGCAAA	0.398																																						dbGAP											0													70.0	65.0	67.0					6																	54025334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.771C>T	6.37:g.54025334C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.L257	ENST00000274897.5	37	c.771	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.398	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	36	0.00	0	C	NM_138569		54025334	54025334	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	30	37.50	18	SNP	1.000	T
MMAA	166785	genome.wustl.edu	37	4	146563556	146563556	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:146563556G>A	ENST00000281317.5	+	3	1691	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	161					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACATTTATAGAATATTTTGG	0.403																																						dbGAP											0													142.0	147.0	145.0					4																	146563556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.481G>A	4.37:g.146563556G>A	ENSP00000281317:p.Glu161Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX40|Q495G7	Missense_Mutation	SNP	pfam_ArgK,pfam_Cbl_biosynth_CobW-like,tigrfam_ArgK	p.E161K	ENST00000281317.5	37	c.481	CCDS3766.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.074666	0.97262	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91237	-2.81	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);	0.043014	0.85682	D	0.000000	D	0.97210	0.9088	H	0.96861	3.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.963;0.974	D	0.98001	1.0360	10	0.87932	D	0	-14.394	19.9759	0.97304	0.0:0.0:1.0:0.0	.	161;161	Q8IVH4;D6RIS5	MMAA_HUMAN;.	K	161	ENSP00000281317:E161K	ENSP00000281317:E161K	E	+	1	0	MMAA	146783006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.713000	0.92767	0.655000	0.94253	GAA	MMAA	-	pfam_ArgK,pfam_Cbl_biosynth_CobW-like,tigrfam_ArgK	ENSG00000151611		0.403	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	HGNC	protein_coding	OTTHUMT00000364668.2	88	0.00	0	G			146563556	146563556	+1	no_errors	ENST00000281317	ensembl	human	known	69_37n	missense	78	30.97	35	SNP	1.000	A
MORN3	283385	genome.wustl.edu	37	12	122107379	122107379	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:122107379G>C	ENST00000355329.3	-	1	181	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	4						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGGGCACTTAGAGACTGGCAT	0.617																																						dbGAP											0													117.0	113.0	114.0					12																	122107379		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.11C>G	12.37:g.122107379G>C	ENSP00000347486:p.Ser4Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.S4C	ENST00000355329.3	37	c.11	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540274	0.27563	.	.	ENSG00000139714	ENST00000355329	T	0.72725	-0.68	5.32	0.352	0.16051	.	1.533070	0.03940	N	0.286751	T	0.65196	0.2668	L	0.51422	1.61	0.09310	N	1	P	0.39576	0.679	B	0.36959	0.237	T	0.54351	-0.8307	10	0.52906	T	0.07	.	8.0651	0.30657	0.421:0.0:0.579:0.0	.	4	Q6PF18	MORN3_HUMAN	C	4	ENSP00000347486:S4C	ENSP00000347486:S4C	S	-	2	0	MORN3	120591762	0.001000	0.12720	0.023000	0.16930	0.176000	0.22953	-0.584000	0.05800	-0.130000	0.11599	0.462000	0.41574	TCT	MORN3	-	NULL	ENSG00000139714		0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	75	0.00	0	G	NM_173855		122107379	122107379	-1	no_errors	ENST00000355329	ensembl	human	known	69_37n	missense	58	31.76	27	SNP	0.016	C
MRPS12	6183	genome.wustl.edu	37	19	39423191	39423191	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:39423191G>A	ENST00000407800.2	+	2	609	c.268G>A	c.(268-270)Gag>Aag	p.E90K	SARS2_ENST00000221431.6_5'Flank|SARS2_ENST00000594171.1_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_5'Flank|MRPS12_ENST00000402029.3_Missense_Mutation_p.E90K|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_5'Flank|MRPS12_ENST00000308018.4_Missense_Mutation_p.E90K|CTC-360G5.9_ENST00000599320.1_lincRNA	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	90					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACTGGCCGCGAGGCCGTCTG	0.647																																						dbGAP											0													57.0	55.0	55.0					19																	39423191		2202	4300	6502	-	-	-	SO:0001583	missense	0			Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"""Mitochondrial ribosomal proteins / small subunits"""	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.268G>A	19.37:g.39423191G>A	ENSP00000384952:p.Glu90Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53X98	Missense_Mutation	SNP	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,prints_Ribosomal_S12_bac,tigrfam_Ribosomal_S12_bac	p.E90K	ENST00000407800.2	37	c.268	CCDS12525.1	19	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913814	0.92178	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.44881	0.91;0.91;0.91	6.07	6.07	0.98685	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62267	-0.6890	10	0.59425	D	0.04	-60.2921	18.1378	0.89627	0.0:0.0:1.0:0.0	.	90	O15235	RT12_HUMAN	K	90	ENSP00000308845:E90K;ENSP00000384952:E90K;ENSP00000384579:E90K	ENSP00000308845:E90K	E	+	1	0	MRPS12	44115031	1.000000	0.71417	0.968000	0.41197	0.396000	0.30629	7.787000	0.85759	2.884000	0.98904	0.655000	0.94253	GAG	MRPS12	-	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,prints_Ribosomal_S12_bac,tigrfam_Ribosomal_S12_bac	ENSG00000128626		0.647	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS12	HGNC	protein_coding	OTTHUMT00000463154.1	20	0.00	0	G			39423191	39423191	+1	no_errors	ENST00000308018	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	1.000	A
MSH5	4439	genome.wustl.edu	37	6	31711932	31711932	+	Intron	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:31711932G>A	ENST00000375755.3	+	7	823				MSH5_ENST00000482280.1_Intron|MSH5_ENST00000375703.3_Intron|MSH5_ENST00000431848.2_5'Flank|MSH5_ENST00000534153.4_Missense_Mutation_p.R185K|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R185K|MSH5_ENST00000375742.3_Missense_Mutation_p.R185K|MSH5_ENST00000375750.3_Intron|MSH5_ENST00000375740.3_Missense_Mutation_p.R185K	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5						ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GGAGATTTAAGATTTACCCCG	0.552								Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP											0													81.0	84.0	83.0					6																	31711932		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.538-35G>A	6.37:g.31711932G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R185K	ENST00000375755.3	37	c.554	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	2.843	-0.239979	0.05944	.	.	ENSG00000204410	ENST00000375742;ENST00000534153;ENST00000375740	D;D;D	0.86432	-1.89;-1.89;-2.12	5.45	-5.07	0.02938	.	3.306190	0.00997	N	0.003610	T	0.41534	0.1163	N	0.08118	0	0.20703	N	0.999861	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55023	-0.8205	9	0.09084	T	0.74	-7.869	0.2908	0.00258	0.3121:0.2157:0.2575:0.2147	.	185;185	O43196-4;O43196-3	.;.	K	185	ENSP00000364894:R185K;ENSP00000431693:R185K;ENSP00000364892:R185K	ENSP00000364892:R185K	R	+	2	0	MSH5	31819911	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.671000	0.05250	-0.854000	0.04131	-0.140000	0.14226	AGA	MSH5	-	NULL	ENSG00000204410		0.552	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	57	0.00	0	G			31711932	31711932	+1	no_errors	ENST00000375742	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.000	A
MTF1	4520	genome.wustl.edu	37	1	38281010	38281010	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:38281010G>A	ENST00000373036.4	-	11	2200	c.2060C>T	c.(2059-2061)tCa>tTa	p.S687L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	687					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGTAGAGGATGATGACCCGGG	0.592																																						dbGAP											0													103.0	108.0	106.0					1																	38281010		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.2060C>T	1.37:g.38281010G>A	ENSP00000362127:p.Ser687Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S687L	ENST00000373036.4	37	c.2060	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955894	0.34471	.	.	ENSG00000188786	ENST00000373036	T	0.13420	2.59	5.71	4.79	0.61399	.	0.094671	0.43579	D	0.000541	T	0.09686	0.0238	N	0.19112	0.55	0.09310	N	0.999998	B	0.20052	0.041	B	0.16722	0.016	T	0.24404	-1.0161	10	0.28530	T	0.3	.	12.7422	0.57259	0.0756:0.0:0.9244:0.0	.	687	Q14872	MTF1_HUMAN	L	687	ENSP00000362127:S687L	ENSP00000362127:S687L	S	-	2	0	MTF1	38053597	1.000000	0.71417	0.013000	0.15412	0.079000	0.17450	8.293000	0.89932	1.415000	0.47037	0.563000	0.77884	TCA	MTF1	-	NULL	ENSG00000188786		0.592	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	62	0.00	0	G	NM_005955		38281010	38281010	-1	no_errors	ENST00000373036	ensembl	human	known	69_37n	missense	68	31.68	32	SNP	0.210	A
MSTO1	55154	genome.wustl.edu	37	1	155580049	155580049	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:155580049G>A	ENST00000245564.2	+	1	34	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	MSTO1_ENST00000368341.4_Missense_Mutation_p.G4R|MSTO1_ENST00000538143.1_Missense_Mutation_p.G4R|MSTO1_ENST00000452804.2_Missense_Mutation_p.G4R|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	4					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TATGGCGGGCGGGGCCCGGGA	0.706																																						dbGAP											0													7.0	10.0	9.0					1																	155580049		2053	3904	5957	-	-	-	SO:0001583	missense	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.10G>A	1.37:g.155580049G>A	ENSP00000245564:p.Gly4Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_myosin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.G4R	ENST00000245564.2	37	c.10	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152146	0.57259	.	.	ENSG00000125459	ENST00000452804;ENST00000538143;ENST00000245564;ENST00000368341	T;T	0.43688	0.98;0.94	3.27	2.3	0.28687	.	0.838019	0.10588	N	0.657061	T	0.17619	0.0423	N	0.19112	0.55	0.24899	N	0.992113	D;D;D	0.62365	0.991;0.975;0.975	P;B;P	0.49665	0.618;0.382;0.483	T	0.05225	-1.0898	10	0.66056	D	0.02	.	5.8654	0.18773	0.0:0.2161:0.5621:0.2218	.	4;4;4	Q9BUK6;Q9BUK6-2;Q9BUK6-3	MSTO1_HUMAN;.;.	R	4	ENSP00000245564:G4R;ENSP00000357325:G4R	ENSP00000245564:G4R	G	+	1	0	MSTO1	153846673	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.600000	0.54052	0.654000	0.30846	0.461000	0.40582	GGG	MSTO1	-	NULL	ENSG00000125459		0.706	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	14	0.00	0	G	NM_018116		155580049	155580049	+1	no_errors	ENST00000245564	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	A
ASB12	142689	genome.wustl.edu	37	X	63445041	63445041	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:63445041C>T	ENST00000396130.2	-	1	462	c.463G>A	c.(463-465)Gag>Aag	p.E155K	ASB12_ENST00000362002.2_Missense_Mutation_p.E164K|MTMR8_ENST00000453546.1_Missense_Mutation_p.E539K			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	155					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ACGTTGGCCTCTGCACCATGG	0.542																																						dbGAP											2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											78.0	62.0	67.0					X																	63445041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.463G>A	X.37:g.63445041C>T	ENSP00000379435:p.Glu155Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E539K	ENST00000396130.2	37	c.1615		X	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446253	0.84101	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.67345	-0.26;-0.26;-0.26	4.0	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.165991	0.52532	D	0.000072	T	0.60856	0.2301	N	0.11818	0.18	0.30012	N	0.815057	P;P	0.51449	0.945;0.643	P;B	0.55055	0.767;0.303	T	0.62081	-0.6929	10	0.41790	T	0.15	-25.3328	14.2368	0.65932	0.0:1.0:0.0:0.0	.	539;155	B4DQL0;Q8WXK4	.;ASB12_HUMAN	K	164;155;164;539	ENSP00000355195:E164K;ENSP00000379435:E155K;ENSP00000394003:E539K	ENSP00000354626:E164K	E	-	1	0	ASB12;MTMR8	63361766	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.343000	0.65976	1.986000	0.57962	0.468000	0.43344	GAG	MTMR8	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000102043		0.542	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	MTMR8	HGNC	protein_coding		48	0.00	0	C			63445041	63445041	-1	no_errors	ENST00000453546	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	T
MTPAP	55149	genome.wustl.edu	37	10	30653345	30653345	+	Intron	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:30653345G>A	ENST00000488290.1	-	9	1912				AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000358107.4_Intron			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCTCTTAGATGATGGTGATGT	0.438																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000488290.1:c.2191+289C>T	10.37:g.30653345G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRX0|Q659E3|Q6P7E5|Q9HA74	RNA	SNP	-	NULL	ENST00000488290.1	37	NULL		10																																																																																			MTPAP	-	-	ENSG00000107951		0.438	MTPAP-002	KNOWN	basic	processed_transcript	MTPAP	HGNC	protein_coding	OTTHUMT00000047427.1	35	0.00	0	G	NM_018109		30653345	30653345	-1	no_errors	ENST00000471055	ensembl	human	known	69_37n	rna	23	36.11	13	SNP	0.949	A
MUC16	94025	genome.wustl.edu	37	19	8974089	8974089	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:8974089C>A	ENST00000397910.4	-	76	42785	c.42582G>T	c.(42580-42582)caG>caT	p.Q14194H	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.Q835H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14225	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATAAATTCTGGGGTGCAT	0.488																																						dbGAP											0													81.0	76.0	77.0					19																	8974089		1874	4118	5992	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42582G>T	19.37:g.8974089C>A	ENSP00000381008:p.Gln14194His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q14194H	ENST00000397910.4	37	c.42582	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.16|13.16	2.155724|2.155724	0.38021|0.38021	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T|.	0.01963|.	4.53|.	4.64|4.64	-0.153|-0.153	0.13403|0.13403	.|.	1.737970|.	0.03596|.	N|.	0.232646|.	T|T	0.49064|0.49064	0.1535|0.1535	M|M	0.69823|0.69823	2.125|2.125	.|.	.|.	.|.	B;D|.	0.54207|.	0.01;0.965|.	B;P|.	0.60682|.	0.005;0.878|.	T|T	0.54351|0.54351	-0.8307|-0.8307	9|4	0.33141|.	T|.	0.24|.	.|.	5.0075|5.0075	0.14295|0.14295	0.0:0.4782:0.3323:0.1895|0.0:0.4782:0.3323:0.1895	.|.	21839;14194|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|I	14194;835|1017	ENSP00000381008:Q14194H|.	ENSP00000370338:Q835H|.	Q|R	-|-	3|2	2|0	MUC16|MUC16	8835089|8835089	0.063000|0.063000	0.20901|0.20901	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.218000|0.218000	0.17622|0.17622	0.009000|0.009000	0.14813|0.14813	-0.165000|-0.165000	0.13383|0.13383	CAG|AGA	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	92	0.00	0	C	NM_024690		8974089	8974089	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	62	44.64	50	SNP	0.000	A
MYBPC3	4607	genome.wustl.edu	37	11	47363598	47363598	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:47363598C>T	ENST00000545968.1	-	18	1788	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L	MYBPC3_ENST00000399249.2_Silent_p.L578L|MYBPC3_ENST00000256993.4_Silent_p.L577L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	578	Ig-like C2-type 4.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCCCATTCTTCAGCCACACAC	0.582																																						dbGAP											0													90.0	93.0	92.0					11																	47363598		2116	4234	6350	-	-	-	SO:0001819	synonymous_variant	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1734G>A	11.37:g.47363598C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L578	ENST00000545968.1	37	c.1734	CCDS53621.1	11																																																																																			MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000134571		0.582	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	102	0.00	0	C			47363598	47363598	-1	no_errors	ENST00000399249	ensembl	human	known	69_37n	silent	97	28.15	38	SNP	1.000	T
MYH11	4629	genome.wustl.edu	37	16	15831389	15831389	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:15831389C>T	ENST00000300036.5	-	25	3319	c.3210G>A	c.(3208-3210)caG>caA	p.Q1070Q	MYH11_ENST00000576790.2_Silent_p.Q1070Q|MYH11_ENST00000452625.2_Silent_p.Q1077Q|MYH11_ENST00000396324.3_Silent_p.Q1077Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1070					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTCAGCGATCTGCTCGTGGA	0.607			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													108.0	91.0	97.0					16																	15831389		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3210G>A	16.37:g.15831389C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1077	ENST00000300036.5	37	c.3231	CCDS10565.1	16																																																																																			MYH11	-	superfamily_Prefoldin	ENSG00000133392		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	62	0.00	0	C	NM_001040113		15831389	15831389	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	silent	67	14.10	11	SNP	1.000	T
MYH9	4627	genome.wustl.edu	37	22	36710252	36710252	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr22:36710252C>T	ENST00000216181.5	-	13	1722	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	498	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AAGTTCCACTCGATGCCCTCG	0.547			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													209.0	156.0	174.0					22																	36710252		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1492G>A	22.37:g.36710252C>T	ENSP00000216181:p.Glu498Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E498K	ENST00000216181.5	37	c.1492	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.466959	0.96257	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87650	-2.28	5.05	5.05	0.67936	Myosin head, motor domain (2);	0.051409	0.85682	D	0.000000	D	0.85767	0.5773	M	0.68952	2.095	0.80722	D	1	P	0.48162	0.906	B	0.37480	0.251	D	0.88787	0.3275	10	0.87932	D	0	.	18.4598	0.90735	0.0:1.0:0.0:0.0	.	498	P35579	MYH9_HUMAN	K	362;498	ENSP00000216181:E498K	ENSP00000216181:E498K	E	-	1	0	MYH9	35040198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.524000	0.85096	0.558000	0.71614	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000100345		0.547	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	154	0.00	0	C	NM_002473		36710252	36710252	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	missense	129	30.65	57	SNP	1.000	T
MYL5	4636	genome.wustl.edu	37	4	672772	672772	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:672772G>C	ENST00000400159.2	+	3	242	c.137G>C	c.(136-138)cGa>cCa	p.R46P	MYL5_ENST00000511290.1_Missense_Mutation_p.R5P|MYL5_ENST00000506838.1_Missense_Mutation_p.R5P|MYL5_ENST00000505477.1_Missense_Mutation_p.R5P	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						GATCAGAACCGAGATGGCTTC	0.622																																						dbGAP											0													109.0	117.0	114.0					4																	672772		2196	4299	6495	-	-	-	SO:0001583	missense	0				CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"""Myosins / Light chain"", ""EF-hand domain containing"""	7586	protein-coding gene	gene with protein product		160782	"""myosin, light polypeptide 5, regulatory"""			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.137G>C	4.37:g.672772G>C	ENSP00000383023:p.Arg46Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXL8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R46P	ENST00000400159.2	37	c.137	CCDS43197.1	4	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931134	0.73327	.	.	ENSG00000215375	ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-0.45;-0.66	4.57	0.824	0.18818	EF-hand-like domain (1);	0.291860	0.17053	U	0.188848	D	0.86272	0.5893	M	0.89904	3.07	0.25897	N	0.983404	D	0.56287	0.975	P	0.60415	0.874	T	0.77840	-0.2438	10	0.66056	D	0.02	.	8.2564	0.31758	0.3476:0.0:0.6524:0.0	.	46	Q02045	MYL5_HUMAN	P	5;5;5;46;51	ENSP00000427153:R5P;ENSP00000423118:R5P;ENSP00000425162:R5P;ENSP00000383023:R46P;ENSP00000427317:R51P	ENSP00000383023:R46P	R	+	2	0	MYL5	662772	1.000000	0.71417	0.001000	0.08648	0.961000	0.63080	3.961000	0.56759	-0.190000	0.10465	0.591000	0.81541	CGA	MYL5	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000215375		0.622	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL5	HGNC	protein_coding	OTTHUMT00000358570.2	44	0.00	0	G	NM_002477		672772	672772	+1	no_errors	ENST00000400159	ensembl	human	known	69_37n	missense	37	42.19	27	SNP	0.905	C
MYO15A	51168	genome.wustl.edu	37	17	18059584	18059584	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:18059584C>G	ENST00000205890.5	+	48	8873	c.8535C>G	c.(8533-8535)atC>atG	p.I2845M	MYO15A_ENST00000418233.3_Missense_Mutation_p.I109M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2845	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGGTCATCCTCTTCTCAG	0.547																																						dbGAP											0													109.0	110.0	110.0					17																	18059584		2056	4202	6258	-	-	-	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8535C>G	17.37:g.18059584C>G	ENSP00000205890:p.Ile2845Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.I2845M	ENST00000205890.5	37	c.8535	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387967	0.25118	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.88975	-2.45	4.23	0.937	0.19494	.	.	.	.	.	D	0.91922	0.7442	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.91635	0.999;0.943;0.975	D	0.89512	0.3772	9	0.66056	D	0.02	.	8.2395	0.31652	0.0:0.718:0.0:0.282	.	44;109;2845	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	M	2845;44	ENSP00000205890:I2845M	ENSP00000205890:I2845M	I	+	3	3	MYO15A	18000309	0.969000	0.33509	1.000000	0.80357	0.992000	0.81027	0.146000	0.16180	0.230000	0.21059	0.462000	0.41574	ATC	MYO15A	-	NULL	ENSG00000091536		0.547	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	59	0.00	0	C	NM_016239		18059584	18059584	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	missense	22	56.00	28	SNP	1.000	G
MYO16	23026	genome.wustl.edu	37	13	109318347	109318347	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr13:109318347G>A	ENST00000357550.2	+	1	117	c.76G>A	c.(76-78)Gag>Aag	p.E26K	MYO16_ENST00000356711.2_Missense_Mutation_p.E26K|MYO16_ENST00000251041.5_Missense_Mutation_p.E26K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATGCGCTGTGAGCAAATCAA	0.498																																						dbGAP											0													89.0	78.0	81.0					13																	109318347		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.76G>A	13.37:g.109318347G>A	ENSP00000350160:p.Glu26Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E26K	ENST00000357550.2	37	c.76	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768486	0.90020	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.46451	0.87;0.87;0.87	5.37	5.37	0.77165	.	0.198303	0.23782	U	0.044606	T	0.30198	0.0757	N	0.14661	0.345	0.80722	D	1	P;P	0.46395	0.868;0.877	B;B	0.41510	0.359;0.257	T	0.05989	-1.0852	9	.	.	.	.	18.0975	0.89494	0.0:0.0:1.0:0.0	.	26;26	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	26	ENSP00000349145:E26K;ENSP00000350160:E26K;ENSP00000251041:E26K	.	E	+	1	0	MYO16	108116348	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.114000	0.94329	2.506000	0.84524	0.650000	0.86243	GAG	MYO16	-	NULL	ENSG00000041515		0.498	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	34	0.00	0	G	NM_015011		109318347	109318347	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	1.000	A
NAA30	122830	genome.wustl.edu	37	14	57858277	57858277	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:57858277C>T	ENST00000556492.1	+	2	756	c.602C>T	c.(601-603)tCg>tTg	p.S201L	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	201					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AGAAGCCCTTCGGGCAGGGAG	0.582																																						dbGAP											0													58.0	67.0	64.0					14																	57858277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.602C>T	14.37:g.57858277C>T	ENSP00000452521:p.Ser201Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0IIN2	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S201L	ENST00000556492.1	37	c.602	CCDS32088.1	14	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727556	0.48833	.	.	ENSG00000139977	ENST00000556492;ENST00000395257	T	0.66280	-0.2	4.47	2.62	0.31277	.	0.825379	0.10790	N	0.633816	T	0.42223	0.1193	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.11012	-1.0605	10	0.24483	T	0.36	0.3125	8.6568	0.34068	0.1519:0.7688:0.0:0.0794	.	201	Q147X3	NAA30_HUMAN	L	201;164	ENSP00000452521:S201L	ENSP00000298406:S201L	S	+	2	0	NAA30	56928030	0.989000	0.36119	0.981000	0.43875	0.992000	0.81027	0.759000	0.26461	0.491000	0.27793	0.655000	0.94253	TCG	NAA30	-	NULL	ENSG00000139977		0.582	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA30	HGNC	protein_coding	OTTHUMT00000412925.1	27	0.00	0	C	NM_001011713		57858277	57858277	+1	no_errors	ENST00000556492	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.975	T
NAGK	55577	genome.wustl.edu	37	2	71305475	71305475	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:71305475G>C	ENST00000244204.6	+	10	934	c.872G>C	c.(871-873)aGa>aCa	p.R291T	NAGK_ENST00000443872.2_Missense_Mutation_p.R143T|NAGK_ENST00000455662.2_Missense_Mutation_p.R337T|NAGK_ENST00000418807.3_Missense_Mutation_p.R240T|NAGK_ENST00000443938.2_Missense_Mutation_p.R287T			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	291					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	ACCCAGGGCAGAGAGATCCAG	0.582																																						dbGAP											0													90.0	75.0	80.0					2																	71305475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.872G>C	2.37:g.71305475G>C	ENSP00000244204:p.Arg291Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	pfam_ATPase_BadF	p.R291T	ENST00000244204.6	37	c.872		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.14|16.14|16.14	3.039721|3.039721|3.039721	0.55003|0.55003|0.55003	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807	.|.|T;T;T	.|.|0.44881	.|.|1.5;1.46;0.91	4.82|4.82|4.82	3.92|3.92|3.92	0.45320|0.45320|0.45320	.|.|.	.|.|0.629622	.|.|0.17607	.|.|N	.|.|0.168235	T|T|T	0.15955|0.15955|0.15955	0.0384|0.0384|0.0384	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.30837|0.30837|0.30837	N|N|N	0.736084|0.736084|0.736084	.|.|B	.|.|0.32245	.|.|0.361	.|.|B	.|.|0.20955	.|.|0.032	T|T|T	0.11591|0.11591|0.11591	-1.0581|-1.0581|-1.0581	5|5|10	.|.|0.09338	.|.|T	.|.|0.73	-7.3428|-7.3428|-7.3428	6.9194|6.9194|6.9194	0.24378|0.24378|0.24378	0.0953:0.1769:0.7278:0.0|0.0953:0.1769:0.7278:0.0|0.0953:0.1769:0.7278:0.0	.|.|.	.|.|291	.|.|Q9UJ70	.|.|NAGK_HUMAN	Q|H|T	309|55|291;337;240	.|.|ENSP00000244204:R291T;ENSP00000389087:R337T;ENSP00000396070:R240T	.|.|ENSP00000244204:R291T	E|Q|R	+|+|+	1|3|2	0|2|0	NAGK|NAGK|NAGK	71158983|71158983|71158983	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	2.000000|2.000000|2.000000	0.40816|0.40816|0.40816	2.494000|2.494000|2.494000	0.84150|0.84150|0.84150	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|CAG|AGA	NAGK	-	NULL	ENSG00000124357		0.582	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	NAGK	HGNC	protein_coding	OTTHUMT00000471889.1	115	0.00	0	G			71305475	71305475	+1	no_errors	ENST00000244204	ensembl	human	known	69_37n	missense	85	44.44	68	SNP	0.987	C
NBPF1	55672	genome.wustl.edu	37	1	16901178	16901178	+	Silent	SNP	C	C	T	rs540119065		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:16901178C>T	ENST00000430580.2	-	21	3089	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Silent_p.P99P|NBPF1_ENST00000432949.1_Silent_p.P192P	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	734	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.		Q -> P (in dbSNP:rs9727080). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTTCAGCCTTCGGCATCTCCC	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		56130	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													75.0	77.0	76.0					1																	16901178		1508	2697	4205	-	-	-	SO:0001819	synonymous_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2202G>A	1.37:g.16901178C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.517	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	357	0.00	0	C	NM_017940		16901178	16901178	-1	no_errors	ENST00000287968	ensembl	human	known	69_37n	rna	384	14.29	64	SNP	0.003	T
NCOR1	9611	genome.wustl.edu	37	17	16047011	16047011	+	Splice_Site	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:16047011C>T	ENST00000268712.3	-	11	1340		c.e11-1		NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395848.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGCCCAACTCTAAACATGAG	0.348																																						dbGAP											0													26.0	26.0	26.0					17																	16047011		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1083-1G>A	17.37:g.16047011C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	-	e10-1	ENST00000268712.3	37	c.1083-1	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763757	0.89932	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.598	0.91236	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15987736	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.633000	0.89246	0.561000	0.74099	.	NCOR1	-	-	ENSG00000141027		0.348	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	38	0.00	0	C	NM_006311	Intron	16047011	16047011	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	splice_site	11	35.29	6	SNP	1.000	T
NEK1	4750	genome.wustl.edu	37	4	170359303	170359303	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:170359303C>T	ENST00000439128.2	-	26	3251	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	NEK1_ENST00000511633.1_Missense_Mutation_p.E855K|NEK1_ENST00000507142.1_Missense_Mutation_p.E899K|NEK1_ENST00000512193.1_Missense_Mutation_p.E802K|NEK1_ENST00000510533.1_Missense_Mutation_p.E827K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	871					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTTTTGTCTCAACAGGAGAA	0.368																																						dbGAP											0													133.0	121.0	125.0					4																	170359303		1831	4088	5919	-	-	-	SO:0001583	missense	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2611G>A	4.37:g.170359303C>T	ENSP00000408020:p.Glu871Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E899K	ENST00000439128.2	37	c.2695	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037468	0.35989	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.69175	-0.36;-0.36;-0.36;-0.38;-0.35	5.52	4.62	0.57501	.	0.556195	0.17226	N	0.182142	T	0.61009	0.2313	L	0.54323	1.7	0.21652	N	0.999608	P;B;P;B;P	0.40398	0.529;0.452;0.716;0.452;0.594	B;B;B;B;B	0.39840	0.23;0.164;0.311;0.164;0.164	T	0.55244	-0.8171	10	0.30078	T	0.28	.	11.8101	0.52177	0.0:0.8235:0.1765:0.0	.	802;855;899;827;871	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	K	871;855;827;899;802	ENSP00000408020:E871K;ENSP00000423332:E855K;ENSP00000427653:E827K;ENSP00000424757:E899K;ENSP00000424938:E802K	ENSP00000408020:E871K	E	-	1	0	NEK1	170595878	0.544000	0.26441	0.354000	0.25760	0.355000	0.29361	2.059000	0.41384	2.751000	0.94390	0.650000	0.86243	GAG	NEK1	-	NULL	ENSG00000137601		0.368	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	178	0.00	0	C			170359303	170359303	-1	no_errors	ENST00000507142	ensembl	human	known	69_37n	missense	138	39.74	91	SNP	0.234	T
NF2	4771	genome.wustl.edu	37	22	30074208	30074208	+	Silent	SNP	G	G	A	rs373442542		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr22:30074208G>A	ENST00000338641.4	+	14	1911	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	NF2_ENST00000353887.4_Silent_p.P407P|NF2_ENST00000334961.7_Silent_p.P407P|NF2_ENST00000361452.4_Silent_p.P449P|NF2_ENST00000347330.5_Missense_Mutation_p.V218I|NF2_ENST00000403435.1_Silent_p.P461P|NF2_ENST00000361676.4_Silent_p.P448P|NF2_ENST00000397789.3_Silent_p.P490P|NF2_ENST00000403999.3_Silent_p.P490P|NF2_ENST00000361166.4_Silent_p.P490P|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	490					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.P483fs*17(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCCAGCACCGTTGCCTCCTG	0.468			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													dbGAP	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Deletion - Frameshift(1)	large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)											170.0	145.0	154.0					22																	30074208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1470G>A	22.37:g.30074208G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.V218I	ENST00000338641.4	37	c.652	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056176	0.55325	.	.	ENSG00000186575	ENST00000347330	D	0.93659	-3.26	5.66	-5.47	0.02600	.	.	.	.	.	D	0.85630	0.5741	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.75563	-0.3274	5	.	.	.	.	4.6083	0.12389	0.5597:0.1563:0.1969:0.0871	.	.	.	.	I	218	ENSP00000335160:V218I	.	V	+	1	0	NF2	28404208	0.000000	0.05858	0.034000	0.17996	0.994000	0.84299	-2.407000	0.01043	-0.316000	0.08690	0.655000	0.94253	GTT	NF2	-	NULL	ENSG00000186575		0.468	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	63	0.00	0	G	NM_000268		30074208	30074208	+1	no_errors	ENST00000347330	ensembl	human	known	69_37n	missense	60	44.44	48	SNP	0.000	A
NFATC1	4772	genome.wustl.edu	37	18	77193689	77193689	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr18:77193689G>A	ENST00000427363.2	+	3	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	NFATC1_ENST00000253506.5_Missense_Mutation_p.G446D|NFATC1_ENST00000586434.1_Missense_Mutation_p.G433D|NFATC1_ENST00000329101.4_Missense_Mutation_p.G433D|NFATC1_ENST00000591814.1_Missense_Mutation_p.G446D|NFATC1_ENST00000592223.1_Missense_Mutation_p.G433D|NFATC1_ENST00000587635.1_Missense_Mutation_p.G446D|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000318065.5_Missense_Mutation_p.G433D|NFATC1_ENST00000542384.1_Missense_Mutation_p.G446D			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	446	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GAGACGGAGGGCAGCCGGGGG	0.662																																					GBM(151;1210 2593 28719 45011)	dbGAP											0													56.0	60.0	59.0					18																	77193689		2202	4298	6500	-	-	-	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1337G>A	18.37:g.77193689G>A	ENSP00000389377:p.Gly446Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.G446D	ENST00000427363.2	37	c.1337		18	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016505	0.93404	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.72942	-0.7;-0.7;-0.7	4.6	4.6	0.57074	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.89881	0.4030	10	0.87932	D	0	-41.0326	17.4139	0.87494	0.0:0.0:1.0:0.0	.	433;433;446;446;446;433;446	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	D	446;446;446;433;433;410	ENSP00000253506:G446D;ENSP00000442435:G446D;ENSP00000327850:G433D	ENSP00000253506:G446D	G	+	2	0	NFATC1	75294677	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.243000	0.95416	2.097000	0.63578	0.561000	0.74099	GGC	NFATC1	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000131196		0.662	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	19	0.00	0	G	NM_172390		77193689	77193689	+1	no_errors	ENST00000427363	ensembl	human	known	69_37n	missense	11	47.83	11	SNP	1.000	A
NFKBIZ	64332	genome.wustl.edu	37	3	101576283	101576283	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:101576283G>A	ENST00000326172.5	+	11	2198	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.D595N|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.D573N	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	695	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TTTGGTTCCCGATGGCCCTGT	0.537																																						dbGAP											0													75.0	62.0	66.0					3																	101576283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.2083G>A	3.37:g.101576283G>A	ENSP00000325663:p.Asp695Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D695N	ENST00000326172.5	37	c.2083	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041204	0.93685	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.55930	0.49;0.49;0.62;0.56	5.98	5.98	0.97165	Ankyrin repeat-containing domain (2);	0.055473	0.64402	D	0.000001	T	0.61060	0.2317	N	0.24115	0.695	0.50039	D	0.999846	D;D	0.89917	0.999;1.0	D;D	0.65140	0.932;0.914	T	0.60510	-0.7249	10	0.48119	T	0.1	-0.0807	20.452	0.99131	0.0:0.0:1.0:0.0	.	573;695	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	N	595;595;573;695	ENSP00000419800:D595N;ENSP00000377618:D595N;ENSP00000325593:D573N;ENSP00000325663:D695N	ENSP00000325593:D573N	D	+	1	0	NFKBIZ	103058973	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.307000	0.72815	2.838000	0.97847	0.591000	0.81541	GAT	NFKBIZ	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000144802		0.537	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1	44	0.00	0	G	NM_031419		101576283	101576283	+1	no_errors	ENST00000326172	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	A
NIPA1	123606	genome.wustl.edu	37	15	23060892	23060892	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:23060892C>G	ENST00000337435.4	-	3	264	c.240G>C	c.(238-240)caG>caC	p.Q80H	NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000561183.1_Missense_Mutation_p.Q5H|NIPA1_ENST00000437912.2_Missense_Mutation_p.Q5H	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	80					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		AGTTTCCAATCTGGCCAACAG	0.537																																						dbGAP											0													44.0	42.0	42.0					15																	23060892		2202	4300	6502	-	-	-	SO:0001583	missense	0			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.240G>C	15.37:g.23060892C>G	ENSP00000337452:p.Gln80His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	pfam_Mg_trans_NIPA	p.Q80H	ENST00000337435.4	37	c.240	CCDS10011.1	15	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828049	0.71143	.	.	ENSG00000170113	ENST00000337435;ENST00000437912	D;D	0.90133	-2.62;-2.62	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	L	0.47716	1.5	0.80722	D	1	D	0.67145	0.996	D	0.81914	0.995	D	0.92668	0.6147	10	0.66056	D	0.02	-18.7455	10.7488	0.46196	0.0:0.8267:0.0:0.1733	.	80	Q7RTP0	NIPA1_HUMAN	H	80;5	ENSP00000337452:Q80H;ENSP00000393962:Q5H	ENSP00000337452:Q80H	Q	-	3	2	NIPA1	20612333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.315000	0.33608	1.503000	0.48686	0.655000	0.94253	CAG	NIPA1	-	pfam_Mg_trans_NIPA	ENSG00000170113		0.537	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA1	HGNC	protein_coding	OTTHUMT00000251135.2	27	0.00	0	C	NM_144599		23060892	23060892	-1	no_errors	ENST00000337435	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	G
NIPBL	25836	genome.wustl.edu	37	5	37007574	37007574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:37007574C>T	ENST00000282516.8	+	18	4736	c.4237C>T	c.(4237-4239)Cag>Tag	p.Q1413*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q1413*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1413					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AACAATTCTTCAGGTAAGATT	0.308																																						dbGAP											0			GRCh37	CM076352	NIPBL	M							41.0	42.0	41.0					5																	37007574		2198	4293	6491	-	-	-	SO:0001587	stop_gained	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4237C>T	5.37:g.37007574C>T	ENSP00000282516:p.Gln1413*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1413*	ENST00000282516.8	37	c.4237	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	47	13.447015	0.99742	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.9539	0.92650	0.0:1.0:0.0:0.0	.	.	.	.	X	1413	.	ENSP00000282516:Q1413X	Q	+	1	0	NIPBL	37043331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.495000	0.84180	0.650000	0.86243	CAG	NIPBL	-	NULL	ENSG00000164190		0.308	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	60	0.00	0	C	NM_015384		37007574	37007574	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	nonsense	37	36.21	21	SNP	1.000	T
NPAS1	4861	genome.wustl.edu	37	19	47548460	47548460	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:47548460C>T	ENST00000602212.1	+	12	1544	c.1324C>T	c.(1324-1326)Ccg>Tcg	p.P442S	NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000602189.1_Missense_Mutation_p.P267S|NPAS1_ENST00000449844.2_Missense_Mutation_p.P442S			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	442					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GCCGGAGCCTCCGACGGAAGG	0.637																																						dbGAP											0													26.0	29.0	28.0					19																	47548460		2197	4297	6494	-	-	-	SO:0001583	missense	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.1324C>T	19.37:g.47548460C>T	ENSP00000469142:p.Pro442Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.P442S	ENST00000602212.1	37	c.1324	CCDS12694.1	19	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501460	0.26861	.	.	ENSG00000130751	ENST00000449844	T	0.25579	1.79	4.11	2.98	0.34508	.	0.202027	0.31922	N	0.006860	T	0.14614	0.0353	L	0.27053	0.805	0.31992	N	0.604501	B	0.30793	0.295	B	0.24701	0.055	T	0.13522	-1.0506	10	0.18276	T	0.48	.	10.4126	0.44303	0.0:0.8001:0.1999:0.0	.	442	Q99742	NPAS1_HUMAN	S	442	ENSP00000405290:P442S	ENSP00000405290:P442S	P	+	1	0	NPAS1	52240300	0.112000	0.22096	0.036000	0.18154	0.008000	0.06430	1.066000	0.30604	1.838000	0.53458	0.313000	0.20887	CCG	NPAS1	-	NULL	ENSG00000130751		0.637	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	13	0.00	0	C	NM_002517		47548460	47548460	+1	no_errors	ENST00000449844	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.048	T
NPL	80896	genome.wustl.edu	37	1	182787764	182787764	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:182787764C>T	ENST00000367553.1	+	8	590	c.546C>T	c.(544-546)ttC>ttT	p.F182F	NPL_ENST00000367552.2_Silent_p.F182F|NPL_ENST00000367554.3_Silent_p.F163F|NPL_ENST00000367555.1_Silent_p.F182F|NPL_ENST00000258317.2_Silent_p.F182F|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	182					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TCTTAGACTTCGGGCAATGTG	0.478																																						dbGAP											0													90.0	88.0	89.0					1																	182787764		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.546C>T	1.37:g.182787764C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like	p.F182	ENST00000367553.1	37	c.546	CCDS1350.1	1																																																																																			NPL	-	pfam_Dihydrodipicolinate_synth-like	ENSG00000135838		0.478	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	49	0.00	0	C	NM_030769		182787764	182787764	+1	no_errors	ENST00000258317	ensembl	human	known	69_37n	silent	51	23.88	16	SNP	0.996	T
NR4A3	8013	genome.wustl.edu	37	9	102595017	102595017	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:102595017A>G	ENST00000395097.2	+	4	1727	c.998A>G	c.(997-999)aAc>aGc	p.N333S	NR4A3_ENST00000330847.1_Missense_Mutation_p.N344S|NR4A3_ENST00000338488.4_Missense_Mutation_p.N333S	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	333					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCAAATAAAAACTGCCCAGTA	0.378			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	0													115.0	110.0	112.0					9																	102595017		2203	4300	6503	-	-	-	SO:0001583	missense	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.998A>G	9.37:g.102595017A>G	ENSP00000378531:p.Asn333Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.N344S	ENST00000395097.2	37	c.1031	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663705	0.67700	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.96427	-4.01;-4.01;-4.01	5.6	5.6	0.85130	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.090201	0.85682	N	0.000000	D	0.96759	0.8942	L	0.35644	1.08	0.80722	D	1	D;P;B	0.71674	0.998;0.592;0.184	D;B;B	0.80764	0.994;0.349;0.144	D	0.97158	0.9836	10	0.51188	T	0.08	.	16.0863	0.81056	1.0:0.0:0.0:0.0	.	344;333;333	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	S	333;333;157;344	ENSP00000378531:N333S;ENSP00000340301:N333S;ENSP00000333122:N344S	ENSP00000333122:N344S	N	+	2	0	NR4A3	101634838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.251000	0.74343	0.528000	0.53228	AAC	NR4A3	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000119508		0.378	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	51	0.00	0	A			102595017	102595017	+1	no_errors	ENST00000330847	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	1.000	G
NTN4	59277	genome.wustl.edu	37	12	96181027	96181027	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:96181027G>A	ENST00000343702.4	-	2	723	c.275C>T	c.(274-276)tCt>tTt	p.S92F	NTN4_ENST00000553059.1_Missense_Mutation_p.S92F|NTN4_ENST00000344911.4_Missense_Mutation_p.S55F|NTN4_ENST00000538383.1_Missense_Mutation_p.S55F	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	92	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGCCATGGCAGATGGCAGGTG	0.527																																						dbGAP											0													142.0	108.0	120.0					12																	96181027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.275C>T	12.37:g.96181027G>A	ENSP00000340998:p.Ser92Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.S92F	ENST00000343702.4	37	c.275	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239085	0.58995	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.54	5.54	0.83059	Laminin, N-terminal (3);	0.400730	0.27198	N	0.020475	D	0.88321	0.6405	M	0.90309	3.105	0.26187	N	0.979636	P;B	0.35612	0.512;0.418	B;P	0.48227	0.369;0.571	T	0.82977	-0.0189	10	0.66056	D	0.02	.	19.4682	0.94951	0.0:0.0:1.0:0.0	.	92;92	Q9HB63-2;Q9HB63	.;NET4_HUMAN	F	92;55;55;92;55	ENSP00000340998:S92F;ENSP00000339436:S55F;ENSP00000444432:S55F;ENSP00000447292:S92F;ENSP00000447594:S55F	ENSP00000340998:S92F	S	-	2	0	NTN4	94705158	0.370000	0.25047	0.994000	0.49952	0.879000	0.50718	3.294000	0.51787	2.596000	0.87737	0.455000	0.32223	TCT	NTN4	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000074527		0.527	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	74	0.00	0	G	NM_021229		96181027	96181027	-1	no_errors	ENST00000343702	ensembl	human	known	69_37n	missense	45	36.62	26	SNP	0.561	A
OAS3	4940	genome.wustl.edu	37	12	113400658	113400658	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:113400658G>A	ENST00000228928.7	+	9	2214	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	679	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTATAGCACTGAGGACCCAGC	0.567																																						dbGAP											0													159.0	167.0	164.0					12																	113400658		2066	4214	6280	-	-	-	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2035G>A	12.37:g.113400658G>A	ENSP00000228928:p.Glu679Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E679K	ENST00000228928.7	37	c.2035	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858591	0.51376	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.42900	0.96	4.2	0.955	0.19602	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.46833	0.1413	M	0.66560	2.04	0.09310	N	1	P	0.42649	0.786	P	0.49799	0.622	T	0.31052	-0.9957	9	0.36615	T	0.2	.	6.4844	0.22081	0.0:0.1776:0.4578:0.3646	.	679	Q9Y6K5	OAS3_HUMAN	K	679;678	ENSP00000228928:E679K	ENSP00000228928:E679K	E	+	1	0	OAS3	111885041	0.002000	0.14202	0.015000	0.15790	0.060000	0.15804	0.848000	0.27710	0.365000	0.24400	0.655000	0.94253	GAG	OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111331		0.567	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	56	0.00	0	G			113400658	113400658	+1	no_errors	ENST00000228928	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	0.003	A
OPN1SW	611	genome.wustl.edu	37	7	128415772	128415772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:128415772G>A	ENST00000249389.2	-	1	72	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	25					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATGTGGTACTGAGGCCCATCC	0.537																																						dbGAP											0													80.0	85.0	83.0					7																	128415772		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.73C>T	7.37:g.128415772G>A	ENSP00000249389:p.Gln25*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13877	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.Q25*	ENST00000249389.2	37	c.73	CCDS5806.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.137266	0.94517	.	.	ENSG00000128617	ENST00000249389	.	.	.	4.87	3.99	0.46301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0504	0.47884	0.0906:0.0:0.9094:0.0	.	.	.	.	X	25	.	ENSP00000249389:Q25X	Q	-	1	0	OPN1SW	128203008	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.387000	0.73191	1.286000	0.44565	0.462000	0.41574	CAG	OPN1SW	-	prints_Opsin_blue	ENSG00000128617		0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	33	0.00	0	G	NM_001708		128415772	128415772	-1	no_errors	ENST00000249389	ensembl	human	known	69_37n	nonsense	18	35.71	10	SNP	1.000	A
OR2A4	79541	genome.wustl.edu	37	6	132021713	132021713	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:132021713G>A	ENST00000315453.2	-	1	922	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	277					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AAGAGGCTGTGAAACAGCAGG	0.448																																						dbGAP											0													18.0	26.0	24.0					6																	132021713		1764	4227	5991	-	-	-	SO:0001583	missense	0			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.829C>T	6.37:g.132021713G>A	ENSP00000319546:p.His277Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.H277Y	ENST00000315453.2	37	c.829	CCDS5149.1	6	.	.	.	.	.	.	.	.	.	.	-	0	-2.665044	0.00107	.	.	ENSG00000180658	ENST00000315453	T	0.00011	9.38	1.65	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.199518	0.24705	U	0.036274	T	0.00012	0.0000	N	0.00017	-2.825	0.27145	N	0.961541	B	0.18166	0.026	B	0.17722	0.019	T	0.48175	-0.9058	10	0.02654	T	1	.	4.8947	0.13744	0.2137:0.0:0.7863:0.0	.	277	O95047	OR2A4_HUMAN	Y	277	ENSP00000319546:H277Y	ENSP00000319546:H277Y	H	-	1	0	OR2A4	132063406	0.275000	0.24201	0.951000	0.38953	0.000000	0.00434	2.413000	0.44618	0.957000	0.37930	0.000000	0.15137	CAC	OR2A4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	ENSG00000180658		0.448	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A4	HGNC	protein_coding	OTTHUMT00000109221.1	73	0.00	0	G	NM_030908		132021713	132021713	-1	no_errors	ENST00000315453	ensembl	human	known	69_37n	missense	52	29.73	22	SNP	0.988	A
OR6N1	128372	genome.wustl.edu	37	1	158736307	158736307	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:158736307G>A	ENST00000335094.2	-	1	185	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGGGTGTGTGAAGCCGGGAG	0.488																																						dbGAP											0													98.0	96.0	96.0					1																	158736307		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.166C>T	1.37:g.158736307G>A	ENSP00000335535:p.His56Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H56Y	ENST00000335094.2	37	c.166	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806164	0.50421	.	.	ENSG00000197403	ENST00000335094	T	0.15952	2.38	5.1	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000234	T	0.19685	0.0473	M	0.87827	2.91	0.39514	D	0.968408	P	0.50528	0.936	P	0.46452	0.517	T	0.09015	-1.0694	10	0.72032	D	0.01	-7.2401	11.0506	0.47884	0.0876:0.0:0.9124:0.0	.	56	Q8NGY5	OR6N1_HUMAN	Y	56	ENSP00000335535:H56Y	ENSP00000335535:H56Y	H	-	1	0	OR6N1	157002931	1.000000	0.71417	0.914000	0.36105	0.382000	0.30200	4.380000	0.59581	1.354000	0.45846	0.655000	0.94253	CAC	OR6N1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197403		0.488	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	52	0.00	0	G	NM_001005185		158736307	158736307	-1	no_errors	ENST00000335094	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	0.997	A
OSBPL11	114885	genome.wustl.edu	37	3	125257365	125257365	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:125257365C>T	ENST00000296220.5	-	11	2243	c.1954G>A	c.(1954-1956)Gac>Aac	p.D652N		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	652					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAGTCAAGTCCACATACTTT	0.433																																						dbGAP											0													352.0	301.0	318.0					3																	125257365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1954G>A	3.37:g.125257365C>T	ENSP00000296220:p.Asp652Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D652N	ENST00000296220.5	37	c.1954	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.321267	0.95682	.	.	ENSG00000144909	ENST00000296220	T	0.35048	1.33	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48536	-0.9027	10	0.35671	T	0.21	-26.1347	19.0682	0.93122	0.0:1.0:0.0:0.0	.	652	Q9BXB4	OSB11_HUMAN	N	652	ENSP00000296220:D652N	ENSP00000296220:D652N	D	-	1	0	OSBPL11	126740055	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.508000	0.81686	2.818000	0.97014	0.591000	0.81541	GAC	OSBPL11	-	pfam_Oxysterol-bd	ENSG00000144909		0.433	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	143	0.00	0	C	NM_022776		125257365	125257365	-1	no_errors	ENST00000296220	ensembl	human	known	69_37n	missense	112	34.12	58	SNP	1.000	T
PALM3	342979	genome.wustl.edu	37	19	14165683	14165683	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:14165683G>A	ENST00000340790.4	-	6	755	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	252	Glu-rich.				negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						TCCTGTCTCCGATGGCTTCCA	0.667																																						dbGAP											0													52.0	53.0	53.0					19																	14165683		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.756C>T	19.37:g.14165683G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.I252	ENST00000340790.4	37	c.756	CCDS46001.1	19																																																																																			PALM3	-	NULL	ENSG00000187867		0.667	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM3	HGNC	protein_coding	OTTHUMT00000458540.1	40	0.00	0	G	NM_001145028		14165683	14165683	-1	no_errors	ENST00000340790	ensembl	human	known	69_37n	silent	26	42.22	19	SNP	0.000	A
PAN3	255967	genome.wustl.edu	37	13	28834664	28834664	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr13:28834664C>T	ENST00000380958.3	+	8	1481	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	PAN3_ENST00000282391.5_Silent_p.F131F|PAN3_ENST00000399613.1_Silent_p.F243F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CACCTTCCTTCTTCATGGCTG	0.433																																						dbGAP											0													149.0	130.0	136.0					13																	28834664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1329C>T	13.37:g.28834664C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.F443	ENST00000380958.3	37	c.1329	CCDS9329.2	13																																																																																			PAN3	-	NULL	ENSG00000152520		0.433	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	51	0.00	0	C	NM_175854		28834664	28834664	+1	no_errors	ENST00000380958	ensembl	human	known	69_37n	silent	43	37.68	26	SNP	1.000	T
PAN3	255967	genome.wustl.edu	37	13	28862169	28862169	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr13:28862169G>T	ENST00000380958.3	+	18	2585	c.2433G>T	c.(2431-2433)ttG>ttT	p.L811F	PAN3_ENST00000282391.5_Missense_Mutation_p.L499F|PAN3_ENST00000399613.1_Missense_Mutation_p.L611F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTTATCTGTTGAAACTCTTTA	0.428																																						dbGAP											0													122.0	114.0	117.0					13																	28862169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2433G>T	13.37:g.28862169G>T	ENSP00000370345:p.Leu811Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.L811F	ENST00000380958.3	37	c.2433	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551875	0.65311	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.52295	0.67;0.67;0.67	5.57	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.67550	-0.5642	10	0.87932	D	0	-5.9345	2.9158	0.05752	0.171:0.1386:0.5476:0.1427	.	811;499;757	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	F	811;611;499	ENSP00000370345:L811F;ENSP00000382522:L611F;ENSP00000282391:L499F	ENSP00000282391:L499F	L	+	3	2	PAN3	27760169	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.605000	0.46283	0.638000	0.30545	-0.345000	0.07892	TTG	PAN3	-	NULL	ENSG00000152520		0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	68	0.00	0	G	NM_175854		28862169	28862169	+1	no_errors	ENST00000380958	ensembl	human	known	69_37n	missense	51	43.96	40	SNP	1.000	T
PAPLN	89932	genome.wustl.edu	37	14	73727999	73727999	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:73727999C>G	ENST00000554301.1	+	17	2405	c.2242C>G	c.(2242-2244)Cat>Gat	p.H748D	PAPLN_ENST00000340738.5_Missense_Mutation_p.H721D|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.H748D|PAPLN_ENST00000555445.1_Missense_Mutation_p.H748D|PAPLN_ENST00000427855.1_Missense_Mutation_p.H748D			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	748						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCAGCCCAGCCATGGTGAGTG	0.632																																						dbGAP											0													43.0	41.0	42.0					14																	73727999		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2242C>G	14.37:g.73727999C>G	ENSP00000451803:p.His748Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like	p.H748D	ENST00000554301.1	37	c.2242		14	.	.	.	.	.	.	.	.	.	.	C	1.879	-0.458279	0.04508	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.49	4.61	3.47	0.39725	Proteinase inhibitor I2, Kunitz metazoa (2);	.	.	.	.	T	0.34629	0.0904	N	0.19112	0.55	0.20975	N	0.999819	B;B;B	0.26935	0.164;0.102;0.039	B;B;B	0.26094	0.066;0.02;0.028	T	0.19353	-1.0308	9	0.26408	T	0.33	.	7.836	0.29369	0.0:0.1748:0.0:0.8252	.	748;748;721	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	D	721;748;748;748;748	ENSP00000345395:H721D;ENSP00000403403:H748D;ENSP00000370558:H748D;ENSP00000451803:H748D;ENSP00000451729:H748D	ENSP00000216658:H748D	H	+	1	0	PAPLN	72797752	0.640000	0.27243	0.546000	0.28166	0.047000	0.14425	0.962000	0.29280	0.797000	0.33971	-0.379000	0.06801	CAT	PAPLN	-	superfamily_Prot_inh_Kunz-m	ENSG00000100767		0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	18	0.00	0	C	NM_173462		73727999	73727999	+1	no_errors	ENST00000427855	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.480	G
PASK	23178	genome.wustl.edu	37	2	242063401	242063401	+	Missense_Mutation	SNP	G	G	A	rs34168911		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:242063401G>A	ENST00000405260.1	-	11	3565	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F	PASK_ENST00000539818.1_Missense_Mutation_p.S740F|PASK_ENST00000544142.1_Missense_Mutation_p.S770F|PASK_ENST00000403638.3_Missense_Mutation_p.S956F|PASK_ENST00000358649.4_Missense_Mutation_p.S956F|PASK_ENST00000234040.4_Missense_Mutation_p.S956F	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	956					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGCAGCGGTAGAGTGGGTGGA	0.602																																						dbGAP											0													50.0	54.0	52.0					2																	242063401		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2867C>T	2.37:g.242063401G>A	ENSP00000384016:p.Ser956Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.S956F	ENST00000405260.1	37	c.2867	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967630	0.53507	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.5;-0.54;0.23	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000049	D	0.82797	0.5115	M	0.69823	2.125	0.42717	D	0.993661	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.979;0.994;0.991;0.998;0.979	D	0.85370	0.1113	10	0.87932	D	0	.	14.9393	0.70980	0.0:0.0:1.0:0.0	.	921;770;956;956;956	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	F	956;770;956;956;740;956	ENSP00000234040:S956F;ENSP00000441374:S770F;ENSP00000384016:S956F;ENSP00000351475:S956F;ENSP00000443083:S740F;ENSP00000384438:S956F	ENSP00000234040:S956F	S	-	2	0	PASK	241712074	1.000000	0.71417	0.960000	0.40013	0.142000	0.21351	5.248000	0.65421	2.240000	0.73641	0.555000	0.69702	TCT	PASK	-	NULL	ENSG00000115687		0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	46	0.00	0	G	NM_015148		242063401	242063401	-1	no_errors	ENST00000358649	ensembl	human	known	69_37n	missense	40	28.57	16	SNP	0.979	A
PAX5	5079	genome.wustl.edu	37	9	37002728	37002728	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:37002728G>A	ENST00000358127.4	-	5	595	c.521C>T	c.(520-522)tCg>tTg	p.S174L	RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000522003.1_Missense_Mutation_p.S66L|PAX5_ENST00000446742.1_Missense_Mutation_p.S108L|PAX5_ENST00000523145.1_Missense_Mutation_p.S66L|PAX5_ENST00000523241.1_Missense_Mutation_p.S174L|PAX5_ENST00000377847.2_Missense_Mutation_p.S174L|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.S174L|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.S174L|PAX5_ENST00000377853.2_Missense_Mutation_p.S174L	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	174					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CGAGCCGGCCGAATCCGTGCT	0.682			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	dbGAP		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	40	Unknown(40)	haematopoietic_and_lymphoid_tissue(40)											46.0	35.0	39.0					9																	37002728		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.521C>T	9.37:g.37002728G>A	ENSP00000350844:p.Ser174Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.S174L	ENST00000358127.4	37	c.521	CCDS6607.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.57|14.57	2.573708|2.573708	0.45902|0.45902	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000522932|ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847	.|D;D;D;D;D;D;D;D;D	.|0.97941	.|-4.14;-4.13;-4.13;-4.62;-4.6;-3.8;-1.93;-2.49;-4.61	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.400252	.|0.25302	.|N	.|0.031641	D|D	0.98112|0.98112	0.9377|0.9377	M|M	0.73430|0.73430	2.235|2.235	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;B;P;P;D;D	.|0.64830	.|0.678;0.994;0.011;0.815;0.681;0.994;0.994	.|B;P;B;B;B;P;P	.|0.61201	.|0.254;0.885;0.009;0.174;0.054;0.885;0.885	D|D	0.97957|0.97957	1.0335|1.0335	5|10	.|0.10636	.|T	.|0.68	.|.	18.7624|18.7624	0.91858|0.91858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|108;174;174;174;174;174;174	.|C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.|.;.;.;.;.;.;PAX5_HUMAN	W|L	8|174;66;174;174;174;174;108;66;66;174	.|ENSP00000350844:S174L;ENSP00000367084:S174L;ENSP00000367083:S174L;ENSP00000429637:S174L;ENSP00000429291:S174L;ENSP00000404687:S108L;ENSP00000429359:S66L;ENSP00000429197:S66L;ENSP00000367078:S174L	.|ENSP00000350844:S174L	R|S	-|-	1|2	2|0	PAX5|PAX5	36992728|36992728	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.013000|0.013000	0.08279|0.08279	8.766000|8.766000	0.91728|0.91728	2.500000|2.500000	0.84329|0.84329	0.561000|0.561000	0.74099|0.74099	CGG|TCG	PAX5	-	NULL	ENSG00000196092		0.682	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX5	HGNC	protein_coding	OTTHUMT00000052433.1	9	0.00	0	G			37002728	37002728	-1	no_errors	ENST00000358127	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.999	A
PCDH19	57526	genome.wustl.edu	37	X	99663206	99663206	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:99663206C>T	ENST00000373034.4	-	1	2065	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PCDH19_ENST00000255531.7_Silent_p.P130P|PCDH19_ENST00000420881.2_Silent_p.P130P	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	130	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTGTGCTGCCGGGAAACTGG	0.582																																						dbGAP											0													119.0	114.0	116.0					X																	99663206		2130	4220	6350	-	-	-	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.390G>A	X.37:g.99663206C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P130	ENST00000373034.4	37	c.390	CCDS55462.1	X																																																																																			PCDH19	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	71	0.00	0	C	NM_020766		99663206	99663206	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	silent	66	16.46	13	SNP	0.016	T
PCDHA2	56146	genome.wustl.edu	37	5	140175048	140175048	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:140175048C>T	ENST00000526136.1	+	1	499	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.L167F|PCDHA2_ENST00000520672.2_Missense_Mutation_p.L167F|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTAAATGCTCTTCTCTCCTA	0.448																																						dbGAP											0													86.0	90.0	89.0					5																	140175048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.499C>T	5.37:g.140175048C>T	ENSP00000431748:p.Leu167Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L167F	ENST00000526136.1	37	c.499	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	9.758	1.169280	0.21621	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52526	0.66;0.66;0.66	3.68	-0.444	0.12245	Cadherin (4);Cadherin-like (1);	0.667620	0.11211	U	0.587727	T	0.62744	0.2453	H	0.94582	3.555	0.09310	N	1	B;B;B	0.25850	0.111;0.136;0.111	B;B;B	0.43052	0.129;0.406;0.129	T	0.66002	-0.6031	10	0.66056	D	0.02	.	1.721	0.02911	0.2389:0.3726:0.2312:0.1573	.	167;167;167	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	F	167	ENSP00000430584:L167F;ENSP00000367372:L167F;ENSP00000431748:L167F	ENSP00000367372:L167F	L	+	1	0	PCDHA2	140155232	0.000000	0.05858	0.002000	0.10522	0.981000	0.71138	-2.109000	0.01335	0.007000	0.14760	0.552000	0.68991	CTT	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204969		0.448	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	55	0.00	0	C	NM_018905		140175048	140175048	+1	no_errors	ENST00000526136	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	0.005	T
PCDHB2	56133	genome.wustl.edu	37	5	140476760	140476760	+	Missense_Mutation	SNP	G	G	A	rs531551073		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:140476760G>A	ENST00000194155.4	+	1	2534	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	796					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAGCTTTGAATTCACTTA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17839	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													147.0	151.0	150.0					5																	140476760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2386G>A	5.37:g.140476760G>A	ENSP00000194155:p.Glu796Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E796K	ENST00000194155.4	37	c.2386	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.295102	0.01375	.	.	ENSG00000112852	ENST00000194155	T	0.47177	0.85	4.34	2.39	0.29439	.	.	.	.	.	T	0.24812	0.0602	N	0.12746	0.255	0.09310	N	1	B	0.14012	0.009	B	0.20184	0.028	T	0.18429	-1.0337	9	0.22109	T	0.4	.	3.5921	0.07993	0.097:0.1349:0.5448:0.2233	.	796	Q9Y5E7	PCDB2_HUMAN	K	796	ENSP00000194155:E796K	ENSP00000194155:E796K	E	+	1	0	PCDHB2	140456944	0.000000	0.05858	0.846000	0.33378	0.141000	0.21300	0.040000	0.13905	0.945000	0.37605	0.650000	0.86243	GAA	PCDHB2	-	NULL	ENSG00000112852		0.428	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	92	0.00	0	G	NM_018936		140476760	140476760	+1	no_errors	ENST00000194155	ensembl	human	known	69_37n	missense	65	39.81	43	SNP	0.002	A
PCDHGA2	56113	genome.wustl.edu	37	5	140720105	140720105	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:140720105G>C	ENST00000394576.2	+	1	1567	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGATTATGAGCAGTTGCG	0.522																																						dbGAP											0													135.0	137.0	136.0					5																	140720105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1567G>C	5.37:g.140720105G>C	ENSP00000378077:p.Glu523Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E523Q	ENST00000394576.2	37	c.1567	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	15.90	2.969528	0.53614	.	.	ENSG00000081853	ENST00000394576	T	0.72942	-0.7	5.21	5.21	0.72293	Cadherin (5);Cadherin-like (1);	0.000000	0.41500	U	0.000866	D	0.91157	0.7215	H	0.98996	4.395	0.40599	D	0.981566	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94932	0.8083	10	0.87932	D	0	.	18.7228	0.91702	0.0:0.0:1.0:0.0	.	523;523	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	523	ENSP00000378077:E523Q	ENSP00000378077:E523Q	E	+	1	0	PCDHGA2	140700289	1.000000	0.71417	0.995000	0.50966	0.006000	0.05464	9.406000	0.97321	2.591000	0.87537	0.591000	0.81541	GAG	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000081853		0.522	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	76	0.00	0	G	NM_018915		140720105	140720105	+1	no_errors	ENST00000394576	ensembl	human	known	69_37n	missense	51	37.80	31	SNP	1.000	C
PCDHGB1	56104	genome.wustl.edu	37	5	140731549	140731549	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:140731549G>A	ENST00000523390.1	+	1	1722	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGATATGGTGCCACGCGCCG	0.662																																						dbGAP											0													19.0	22.0	21.0					5																	140731549		1897	4051	5948	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1722G>A	5.37:g.140731549G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V574	ENST00000523390.1	37	c.1722	CCDS54923.1	5																																																																																			PCDHGB1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254221		0.662	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	9	0.00	0	G	NM_018922		140731549	140731549	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	1.000	A
PCDHGA6	56109	genome.wustl.edu	37	5	140754953	140754953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:140754953G>T	ENST00000517434.1	+	1	1303	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTCTACAGAAACAATCAT	0.483																																						dbGAP											0													119.0	128.0	125.0					5																	140754953		2115	4254	6369	-	-	-	SO:0001587	stop_gained	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1303G>T	5.37:g.140754953G>T	ENSP00000429601:p.Glu435*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E435*	ENST00000517434.1	37	c.1303	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528104	0.44969	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	3.4	0.38934	.	1.232730	0.06689	U	0.769400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.1687	0.20404	0.0719:0.2431:0.5601:0.1249	.	.	.	.	X	435	.	ENSP00000429601:E435X	E	+	1	0	PCDHGA6	140735137	0.000000	0.05858	0.992000	0.48379	0.045000	0.14185	0.317000	0.19487	0.845000	0.35118	0.655000	0.94253	GAA	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.483	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	38	0.00	0	G	NM_018919		140754953	140754953	+1	no_errors	ENST00000517434	ensembl	human	known	69_37n	nonsense	21	48.78	20	SNP	0.097	T
PCLO	27445	genome.wustl.edu	37	7	82585189	82585189	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:82585189C>G	ENST00000333891.9	-	5	5417	c.5080G>C	c.(5080-5082)Gac>Cac	p.D1694H	PCLO_ENST00000423517.2_Missense_Mutation_p.D1694H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTTCGTCAAAATACAAA	0.438																																						dbGAP											0													92.0	84.0	87.0					7																	82585189		1859	4094	5953	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5080G>C	7.37:g.82585189C>G	ENSP00000334319:p.Asp1694His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D1694H	ENST00000333891.9	37	c.5080	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470660	0.26423	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19669	2.13;2.13	5.33	5.33	0.75918	.	.	.	.	.	T	0.48537	0.1505	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.49899	-0.8890	9	0.87932	D	0	.	19.0363	0.92980	0.0:1.0:0.0:0.0	.	1694;1694	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1625;1694;1694	ENSP00000334319:D1694H;ENSP00000388393:D1694H	ENSP00000334319:D1694H	D	-	1	0	PCLO	82423125	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.790000	0.62453	2.509000	0.84616	0.650000	0.86243	GAC	PCLO	-	NULL	ENSG00000186472		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	86	0.00	0	C	NM_014510		82585189	82585189	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	60	34.78	32	SNP	1.000	G
PEG3	5178	genome.wustl.edu	37	19	57326865	57326865	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:57326865G>A	ENST00000326441.9	-	10	3308	c.2945C>T	c.(2944-2946)tCt>tTt	p.S982F	PEG3_ENST00000593695.1_Missense_Mutation_p.S856F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S982F|PEG3_ENST00000598410.1_Missense_Mutation_p.S858F|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	982					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGTGAGGTCAGAGCTATGAGC	0.498																																						dbGAP											0													104.0	98.0	100.0					19																	57326865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2945C>T	19.37:g.57326865G>A	ENSP00000326581:p.Ser982Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S982F	ENST00000326441.9	37	c.2945	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444050	0.25987	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.58506	0.33;0.33	4.55	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.512495	0.16673	N	0.204283	T	0.51736	0.1692	L	0.46157	1.445	.	.	.	P;P;P	0.50710	0.855;0.938;0.938	P;P;P	0.46362	0.514;0.509;0.509	T	0.62431	-0.6856	9	0.87932	D	0	-12.8668	7.418	0.27055	0.0:0.1582:0.4735:0.3683	.	858;982;917	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	F	982	ENSP00000326581:S982F;ENSP00000403051:S982F	ENSP00000326581:S982F	S	-	2	0	ZIM2	62018677	0.010000	0.17322	0.054000	0.19295	0.291000	0.27294	1.720000	0.38022	0.607000	0.29982	-0.274000	0.10170	TCT	PEG3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	54	0.00	0	G			57326865	57326865	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	30	42.31	22	SNP	0.001	A
PEX6	5190	genome.wustl.edu	37	6	42934116	42934116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:42934116G>A	ENST00000304611.8	-	11	2233	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	722					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGGGGGAGCTGAATGGTCTCC	0.607																																						dbGAP											0													39.0	42.0	41.0					6																	42934116		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2164C>T	6.37:g.42934116G>A	ENSP00000303511:p.Gln722*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.Q722*	ENST00000304611.8	37	c.2164	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.184090	0.98121	.	.	ENSG00000124587	ENST00000304611	.	.	.	5.49	5.49	0.81192	.	0.050354	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.3837	18.9872	0.92777	0.0:0.0:1.0:0.0	.	.	.	.	X	722	.	ENSP00000303511:Q722X	Q	-	1	0	PEX6	43042094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.564000	0.86499	0.563000	0.77884	CAG	PEX6	-	NULL	ENSG00000124587		0.607	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	31	0.00	0	G	NM_000287		42934116	42934116	-1	no_errors	ENST00000304611	ensembl	human	known	69_37n	nonsense	27	28.95	11	SNP	1.000	A
JADE1	79960	genome.wustl.edu	37	4	129764141	129764141	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:129764141C>G	ENST00000226319.6	+	3	366	c.86C>G	c.(85-87)tCc>tGc	p.S29C	PHF17_ENST00000413543.2_Missense_Mutation_p.S29C|PHF17_ENST00000512960.1_Missense_Mutation_p.S29C|PHF17_ENST00000452328.2_Missense_Mutation_p.S29C|PHF17_ENST00000511647.1_Missense_Mutation_p.S29C	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AATTCCCGATCCCAGCATAGG	0.458																																						dbGAP											0													123.0	118.0	120.0					4																	129764141		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000226319.6:c.86C>G	4.37:g.129764141C>G	ENSP00000226319:p.Ser29Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S29C	ENST00000226319.6	37	c.86	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130418	0.77549	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T	0.47177	0.94;0.85;0.95;0.94;0.85	4.86	4.86	0.63082	.	0.119998	0.64402	D	0.000017	T	0.58163	0.2103	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.72982	0.951;0.979;0.906	T	0.54443	-0.8293	9	.	.	.	.	16.362	0.83271	0.0:1.0:0.0:0.0	.	29;29;29	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	C	29	ENSP00000226319:S29C;ENSP00000423737:S29C;ENSP00000388015:S29C;ENSP00000425730:S29C;ENSP00000404211:S29C	.	S	+	2	0	PHF17	129983591	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.902000	0.63266	2.512000	0.84698	0.561000	0.74099	TCC	PHF17	-	NULL	ENSG00000077684		0.458	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	112	0.00	0	C			129764141	129764141	+1	no_errors	ENST00000226319	ensembl	human	known	69_37n	missense	136	11.69	18	SNP	1.000	G
PIGO	84720	genome.wustl.edu	37	9	35090233	35090233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:35090233G>A	ENST00000378617.3	-	9	3293	c.2899C>T	c.(2899-2901)Caa>Taa	p.Q967*	PIGO_ENST00000361778.2_Nonsense_Mutation_p.Q550*|PIGO_ENST00000298004.5_Nonsense_Mutation_p.Q550*|PIGO_ENST00000341666.3_Nonsense_Mutation_p.Q967*	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	967				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGCAGCCCTTGACTCTCACAC	0.602																																						dbGAP											0													48.0	47.0	47.0					9																	35090233		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2899C>T	9.37:g.35090233G>A	ENSP00000367880:p.Gln967*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Nonsense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Q967*	ENST00000378617.3	37	c.2899	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.613535	0.98390	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	.	.	.	5.25	5.25	0.73442	.	0.471942	0.23079	N	0.052167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.5274	19.037	0.92983	0.0:0.0:1.0:0.0	.	.	.	.	X	550;967;967;550	.	ENSP00000298004:Q550X	Q	-	1	0	PIGO	35080233	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.726000	0.61986	2.738000	0.93877	0.655000	0.94253	CAA	PIGO	-	NULL	ENSG00000165282		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	13	0.00	0	G	NM_032634		35090233	35090233	-1	no_errors	ENST00000341666	ensembl	human	known	69_37n	nonsense	17	26.09	6	SNP	0.997	A
PLEKHA7	144100	genome.wustl.edu	37	11	16837807	16837807	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:16837807G>A	ENST00000355661.3	-	12	1881	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S624L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S624L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	624	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CACATGAGATGAGTTCTGCAA	0.572																																						dbGAP											0													88.0	75.0	79.0					11																	16837807		2200	4294	6494	-	-	-	SO:0001583	missense	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1871C>T	11.37:g.16837807G>A	ENSP00000347883:p.Ser624Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.S624L	ENST00000355661.3	37	c.1871	CCDS31434.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.72|13.72	2.322306|2.322306	0.41096|0.41096	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.39056	.|1.1;1.1;1.1	5.63|5.63	4.72|4.72	0.59763|0.59763	.|.	.|0.217623	.|0.47852	.|D	.|0.000206	T|T	0.47284|0.47284	0.1437|0.1437	L|L	0.55481|0.55481	1.735|1.735	0.39321|0.39321	D|D	0.965252|0.965252	.|D;P;P;D	.|0.53745	.|0.962;0.547;0.799;0.962	.|P;B;B;P	.|0.50082	.|0.63;0.114;0.323;0.541	T|T	0.44682|0.44682	-0.9312|-0.9312	5|10	.|0.27785	.|T	.|0.31	-14.0844|-14.0844	14.5824|14.5824	0.68300|0.68300	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	.|198;624;624;624	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	Y|L	255|624	.|ENSP00000435389:S624L;ENSP00000347883:S624L;ENSP00000416895:S624L	.|ENSP00000347883:S624L	H|S	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16794383|16794383	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.022000|0.022000	0.10575|0.10575	4.585000|4.585000	0.60977|0.60977	1.398000|1.398000	0.46701|0.46701	-0.259000|-0.259000	0.10710|0.10710	CAT|TCA	PLEKHA7	-	NULL	ENSG00000166689		0.572	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	44	0.00	0	G	NM_175058		16837807	16837807	-1	no_errors	ENST00000448080	ensembl	human	known	69_37n	missense	31	49.18	30	SNP	0.999	A
PLEKHG1	57480	genome.wustl.edu	37	6	151151893	151151893	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:151151893C>T	ENST00000358517.2	+	15	1857	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.P549L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	549							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CGACGGTCCCCGCAGGAGAAT	0.502																																						dbGAP											0													109.0	92.0	98.0					6																	151151893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1646C>T	6.37:g.151151893C>T	ENSP00000351318:p.Pro549Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P549L	ENST00000358517.2	37	c.1646	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460200	0.26248	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58210	0.35;0.35	5.41	4.49	0.54785	.	0.310345	0.37669	N	0.001987	T	0.27349	0.0671	L	0.56769	1.78	0.20563	N	0.999882	B;B;B	0.17268	0.021;0.004;0.004	B;B;B	0.09377	0.004;0.002;0.002	T	0.03384	-1.1042	10	0.26408	T	0.33	.	9.3623	0.38203	0.1453:0.7796:0.0:0.0751	.	356;549;549	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	L	549	ENSP00000356297:P549L;ENSP00000351318:P549L	ENSP00000351318:P549L	P	+	2	0	PLEKHG1	151193586	0.056000	0.20664	0.291000	0.24904	0.417000	0.31264	2.662000	0.46766	2.529000	0.85273	0.561000	0.74099	CCG	PLEKHG1	-	NULL	ENSG00000120278		0.502	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	61	0.00	0	C			151151893	151151893	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	0.053	T
PLEKHH2	130271	genome.wustl.edu	37	2	43971088	43971088	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:43971088C>T	ENST00000282406.4	+	23	3625	c.3515C>T	c.(3514-3516)tCt>tTt	p.S1172F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGATCCTTCTGGCAGAGAT	0.448																																						dbGAP											0													123.0	113.0	116.0					2																	43971088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3515C>T	2.37:g.43971088C>T	ENSP00000282406:p.Ser1172Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S1172F	ENST00000282406.4	37	c.3515	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310170	0.81358	.	.	ENSG00000152527	ENST00000282406	T	0.75477	-0.94	5.76	5.76	0.90799	Band 4.1 domain (1);FERM domain (1);	0.272868	0.42420	D	0.000712	T	0.82019	0.4946	M	0.71581	2.175	0.58432	D	0.999998	P	0.42248	0.774	P	0.49192	0.602	T	0.82460	-0.0446	10	0.59425	D	0.04	-11.9089	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1172	Q8IVE3	PKHH2_HUMAN	F	1172	ENSP00000282406:S1172F	ENSP00000282406:S1172F	S	+	2	0	PLEKHH2	43824592	1.000000	0.71417	0.801000	0.32222	0.954000	0.61252	7.487000	0.81328	2.706000	0.92434	0.655000	0.94253	TCT	PLEKHH2	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000152527		0.448	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	55	0.00	0	C	NM_172069		43971088	43971088	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	missense	69	30.30	30	SNP	0.979	T
PLEKHN1	84069	genome.wustl.edu	37	1	901936	901936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:901936C>T	ENST00000379409.2	+	1	55	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	PLEKHN1_ENST00000379407.3_Nonsense_Mutation_p.Q9*|PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.Q9*			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	9										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGTGTCCCTCAGGCCCCCAG	0.711																																						dbGAP											0													25.0	28.0	27.0					1																	901936		2193	4291	6484	-	-	-	SO:0001587	stop_gained	0			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.25C>T	1.37:g.901936C>T	ENSP00000368719:p.Gln9*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494U2|Q5SV98|Q9H0M7	Nonsense_Mutation	SNP	smart_Pleckstrin_homology	p.Q9*	ENST00000379409.2	37	c.25		1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361311	0.82353	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	.	.	.	5.29	5.29	0.74685	.	0.000000	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.084	0.81025	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000368717:Q9X	Q	+	1	0	PLEKHN1	891799	0.992000	0.36948	0.993000	0.49108	0.944000	0.59088	3.115000	0.50391	2.490000	0.84030	0.563000	0.77884	CAG	PLEKHN1	-	NULL	ENSG00000187583		0.711	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	HGNC	protein_coding	OTTHUMT00000473256.1	25	0.00	0	C	NM_032129		901936	901936	+1	no_errors	ENST00000379409	ensembl	human	known	69_37n	nonsense	14	58.82	20	SNP	0.990	T
PNKP	11284	genome.wustl.edu	37	19	50370348	50370348	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:50370348C>T	ENST00000322344.3	-	2	223	c.114G>A	c.(112-114)ctG>ctA	p.L38L	PNKP_ENST00000600910.1_Silent_p.L38L|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.L38L|PNKP_ENST00000600573.1_Silent_p.L38L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	38	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TAACCTGGGTCAGGGGTCCCC	0.692								Other BER factors																														dbGAP											0													51.0	53.0	52.0					19																	50370348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.114G>A	19.37:g.50370348C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.L38	ENST00000322344.3	37	c.114	CCDS12783.1	19																																																																																			PNKP	-	superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met	ENSG00000039650		0.692	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	25	0.00	0	C	NM_007254		50370348	50370348	-1	no_errors	ENST00000322344	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.992	T
POLA2	23649	genome.wustl.edu	37	11	65064614	65064614	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:65064614G>A	ENST00000265465.3	+	18	2202	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	557					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GTGTCTGTGTGAACCCTGGGC	0.597																																						dbGAP											0													99.0	97.0	98.0					11																	65064614		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1671G>A	11.37:g.65064614G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB4|Q9BPV3	Silent	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.V557	ENST00000265465.3	37	c.1671	CCDS8098.1	11																																																																																			POLA2	-	pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.597	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	67	0.00	0	G	NM_002689		65064614	65064614	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	silent	66	29.79	28	SNP	1.000	A
POLRMT	5442	genome.wustl.edu	37	19	618718	618718	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:618718C>T	ENST00000588649.2	-	16	3394	c.3310G>A	c.(3310-3312)Gga>Aga	p.G1104R	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1104	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGATGTCTCCGTTGTGGGTG	0.652																																						dbGAP											0													20.0	19.0	19.0					19																	618718		2183	4296	6479	-	-	-	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3310G>A	19.37:g.618718C>T	ENSP00000465759:p.Gly1104Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.G1119R	ENST00000588649.2	37	c.3355	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	7.790	0.711341	0.15239	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	4.19	-1.64	0.08318	.	1.859480	0.02718	N	0.113737	T	0.34366	0.0895	L	0.52126	1.63	0.09310	N	1	B	0.31209	0.313	B	0.32805	0.153	T	0.11060	-1.0603	10	0.25106	T	0.35	-6.1426	3.0507	0.06168	0.2665:0.389:0.2559:0.0886	.	1104	O00411	RPOM_HUMAN	R	1104	ENSP00000215591:G1104R	ENSP00000215591:G1104R	G	-	1	0	POLRMT	569718	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.418000	0.07080	-0.015000	0.14150	0.205000	0.17691	GGA	POLRMT	-	pfam_DNA-dir_Rpol_phage-type	ENSG00000099821		0.652	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	48	0.00	0	C	NM_005035		618718	618718	-1	no_errors	ENST00000588649	ensembl	human	known	69_37n	missense	33	40.00	22	SNP	0.000	T
POTEH	23784	genome.wustl.edu	37	22	16287624	16287624	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr22:16287624C>T	ENST00000343518.6	-	1	313	c.262G>A	c.(262-264)Gat>Aat	p.D88N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	88										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATAGCAGAATCGTCGTGGTCT	0.607																																						dbGAP											0													57.0	67.0	64.0					22																	16287624		1820	3476	5296	-	-	-	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.262G>A	22.37:g.16287624C>T	ENSP00000340610:p.Asp88Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D88N	ENST00000343518.6	37	c.262	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	10.81	1.456809	0.26161	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.36340	1.26	.	.	.	.	.	.	.	.	T	0.31136	0.0787	L	0.40543	1.245	0.09310	N	1	D	0.53312	0.959	P	0.47705	0.555	T	0.14811	-1.0459	7	0.37606	T	0.19	.	.	.	.	.	88	Q6S545	POTEH_HUMAN	N	88	ENSP00000340610:D88N	ENSP00000340610:D88N	D	-	1	0	POTEH	14667624	0.004000	0.15560	0.011000	0.14972	0.011000	0.07611	0.240000	0.18042	0.149000	0.19098	0.152000	0.16155	GAT	POTEH	-	NULL	ENSG00000198062		0.607	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	262	0.00	0	C	NM_001136213		16287624	16287624	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	missense	274	16.21	53	SNP	0.011	T
PPP1R14B	26472	genome.wustl.edu	37	11	64012235	64012235	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:64012235C>G	ENST00000309318.3	-	4	702	c.435G>C	c.(433-435)caG>caC	p.Q145H	PPP1R14B_ENST00000542235.1_Missense_Mutation_p.Q70H|RP11-783K16.5_ENST00000538355.1_RNA|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000392210.2_Missense_Mutation_p.Q43H	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	145					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						GTCACTTCTTCTGGGGTGTGC	0.617																																						dbGAP											0													40.0	34.0	36.0					11																	64012235		2201	4293	6494	-	-	-	SO:0001583	missense	0			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.435G>C	11.37:g.64012235C>G	ENSP00000310117:p.Gln145His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504S7|Q7KZD7	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.Q145H	ENST00000309318.3	37	c.435	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651038	0.67472	.	.	ENSG00000173457	ENST00000392210;ENST00000309318;ENST00000542235	.	.	.	3.93	3.93	0.45458	.	0.073236	0.56097	U	0.000034	T	0.69351	0.3101	L	0.61387	1.9	0.39677	D	0.970846	D	0.59767	0.986	P	0.59825	0.864	T	0.75889	-0.3158	9	0.72032	D	0.01	-18.3518	15.1279	0.72497	0.0:1.0:0.0:0.0	.	145	Q96C90	PP14B_HUMAN	H	43;145;70	.	ENSP00000310117:Q145H	Q	-	3	2	PPP1R14B	63768811	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.632000	0.54287	1.901000	0.55032	0.462000	0.41574	CAG	PPP1R14B	-	pfam_PP1_inhibitor	ENSG00000173457		0.617	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	29	0.00	0	C	NM_138689		64012235	64012235	-1	no_errors	ENST00000309318	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	1.000	G
PPP1R15A	23645	genome.wustl.edu	37	19	49377172	49377172	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:49377172G>A	ENST00000200453.5	+	2	951	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	228	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AGGGGAGGAAGAGAATCAAGC	0.537																																						dbGAP											0													84.0	94.0	90.0					19																	49377172		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.682G>A	19.37:g.49377172G>A	ENSP00000200453:p.Glu228Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.E228K	ENST00000200453.5	37	c.682	CCDS12738.1	19	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018214	0.93404	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04454	3.62	3.91	2.87	0.33458	.	1.526310	0.03974	N	0.292249	T	0.12603	0.0306	L	0.52573	1.65	0.09310	N	1	D	0.67145	0.996	D	0.63381	0.914	T	0.33163	-0.9879	10	0.08381	T	0.77	-3.9725	7.4173	0.27053	0.1215:0.0:0.8785:0.0	.	228	O75807	PR15A_HUMAN	K	228;68;186	ENSP00000200453:E228K	ENSP00000200453:E228K	E	+	1	0	PPP1R15A	54068984	0.003000	0.15002	0.001000	0.08648	0.856000	0.48823	1.210000	0.32370	0.996000	0.38943	0.462000	0.41574	GAG	PPP1R15A	-	NULL	ENSG00000087074		0.537	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	67	0.00	0	G	NM_014330		49377172	49377172	+1	no_errors	ENST00000200453	ensembl	human	known	69_37n	missense	40	36.51	23	SNP	0.004	A
PRAMEF7	441871	genome.wustl.edu	37	1	12979942	12979942	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:12979942C>T	ENST00000361079.2	+	4	1217	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	378					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCCAGCTCAGCACCTTCA	0.597																																						dbGAP											0													1.0	1.0	1.0					1																	12979942		244	593	837	-	-	-	SO:0001819	synonymous_variant	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1134C>T	1.37:g.12979942C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP0	Silent	SNP	NULL	p.L378	ENST00000361079.2	37	c.1134	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL	ENSG00000204510		0.597	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		94	0.00	0	C	NM_001012277		12979942	12979942	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	silent	52	11.86	7	SNP	0.455	T
PRH1	5554	genome.wustl.edu	37	12	11035142	11035142	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:11035142G>A	ENST00000428168.2	-	3	293	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PRR4_ENST00000536668.1_Intron	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	86						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CCCTGAGGAGGTGGTGGACCT	0.602																																						dbGAP											0													128.0	72.0	92.0					12																	11035142		2123	3837	5960	-	-	-	SO:0001583	missense	0					12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.256C>T	12.37:g.11035142G>A	ENSP00000412436:p.Pro86Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	NULL	p.P86S	ENST00000428168.2	37	c.256		12	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897801	0.02472	.	.	ENSG00000231887	ENST00000428168	T	0.33216	1.42	0.835	0.835	0.18886	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28106	-1.0054	6	0.72032	D	0.01	.	5.0315	0.14411	0.0:0.0:1.0:0.0	.	.	.	.	S	86	ENSP00000412436:P86S	ENSP00000412436:P86S	P	-	1	0	PRH1	10926409	0.002000	0.14202	0.018000	0.16275	0.018000	0.09664	0.030000	0.13688	0.737000	0.32582	0.306000	0.20318	CCT	PRH1	-	NULL	ENSG00000231887		0.602	PRH1-201	KNOWN	basic|appris_principal	protein_coding	PRH1	HGNC	protein_coding		149	0.00	0	G	NM_006250		11035142	11035142	-1	no_errors	ENST00000428168	ensembl	human	known	69_37n	missense	183	12.02	25	SNP	0.023	A
PRB3	5544	genome.wustl.edu	37	12	11421068	11421068	+	Nonsense_Mutation	SNP	G	G	A	rs533793961		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:11421068G>A	ENST00000279573.7	-	3	250	c.115C>T	c.(115-117)Cga>Tga	p.R39*	PRB3_ENST00000538488.1_Nonsense_Mutation_p.R39*|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Nonsense_Mutation_p.R39*			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	39	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													-|||	1	0.000199681	0.0008	0.0	5008	,	,		13936	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													96.0	80.0	85.0					12																	11421068		2143	4242	6385	-	-	-	SO:0001587	stop_gained	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.115C>T	12.37:g.11421068G>A	ENSP00000279573:p.Arg39*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Nonsense_Mutation	SNP	NULL	p.R39*	ENST00000279573.7	37	c.115		12	.	.	.	.	.	.	.	.	.	.	.	10.73	1.431272	0.25813	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	.	.	.	0.548	-1.1	0.09872	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999938	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	.	.	.	.	.	.	.	X	39	.	ENSP00000279573:R39X	R	-	1	2	PRB3	11312335	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.642000	0.05427	-0.466000	0.06943	0.164000	0.16699	CGA	PRB3	-	NULL	ENSG00000197870		0.547	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	111	0.00	0	G	NM_006249		11421068	11421068	-1	no_errors	ENST00000381842	ensembl	human	known	69_37n	nonsense	110	33.93	57	SNP	0.001	A
PRKCG	5582	genome.wustl.edu	37	19	54385850	54385850	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:54385850G>A	ENST00000263431.3	+	1	384	c.102G>A	c.(100-102)aaG>aaA	p.K34K	PRKCG_ENST00000542049.1_5'Flank|PRKCG_ENST00000540413.1_Silent_p.K34K|PRKCG_ENST00000536044.1_Silent_p.K34K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	34					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACGAAGTCAAGAGCCACAAGT	0.647																																						dbGAP											0													75.0	76.0	76.0					19																	54385850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.102G>A	19.37:g.54385850G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Q0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.K34	ENST00000263431.3	37	c.102	CCDS12867.1	19																																																																																			PRKCG	-	pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd	ENSG00000126583		0.647	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	17	0.00	0	G	NM_002739		54385850	54385850	+1	no_errors	ENST00000540413	ensembl	human	known	69_37n	silent	27	34.15	14	SNP	1.000	A
PRKCH	5583	genome.wustl.edu	37	14	61789027	61789027	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:61789027G>A	ENST00000332981.5	+	1	593	c.208G>A	c.(208-210)Gag>Aag	p.E70K	PRKCH_ENST00000555082.1_5'Flank|RP11-902B17.1_ENST00000500036.2_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	70	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CACGTACAACGAGGAGTTTTG	0.637																																					Melanoma(135;863 1779 8064 14443 26348)	dbGAP											0													87.0	69.0	75.0					14																	61789027		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.208G>A	14.37:g.61789027G>A	ENSP00000329127:p.Glu70Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E70K	ENST00000332981.5	37	c.208	CCDS9752.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.413805	0.96072	.	.	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.77750	-1.12;-1.12	5.38	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000019	D	0.89347	0.6689	M	0.92122	3.275	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.90067	0.4160	10	0.39692	T	0.17	.	14.8613	0.70384	0.0:0.0:0.8558:0.1442	.	70	P24723	KPCL_HUMAN	K	70	ENSP00000452129:E70K;ENSP00000329127:E70K	ENSP00000329127:E70K	E	+	1	0	PRKCH	60858780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.561000	0.67339	2.518000	0.84900	0.655000	0.94253	GAG	PRKCH	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting	ENSG00000027075		0.637	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2	15	0.00	0	G	NM_006255		61789027	61789027	+1	no_errors	ENST00000332981	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79323854	79323854	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:79323854G>A	ENST00000376718.3	-	8	3459	c.3336C>T	c.(3334-3336)ctC>ctT	p.L1112L	PRUNE2_ENST00000428286.1_Silent_p.L753L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1112					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.L1112L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCACAAGTCGAGACTGTCAG	0.522																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											170.0	152.0	158.0					9																	79323854		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3336C>T	9.37:g.79323854G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R434*	ENST00000376718.3	37	c.1300	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.263564	0.01445	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.94	-10.7	0.00240	.	.	.	.	.	.	.	.	.	.	.	0.24781	N	0.992816	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4096	6.4765	0.22039	0.5245:0.3072:0.0896:0.0786	.	.	.	.	X	434	.	.	R	-	1	2	PRUNE2	78513674	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-2.826000	0.00746	-1.831000	0.01198	-0.311000	0.09066	CGA	PRUNE2	-	NULL	ENSG00000106772		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	116	0.00	0	G	NM_138818		79323854	79323854	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426088	ensembl	human	known	69_37n	nonsense	108	30.77	48	SNP	0.000	A
PUM2	23369	genome.wustl.edu	37	2	20511271	20511271	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:20511271C>T	ENST00000361078.2	-	4	524	c.502G>A	c.(502-504)Gat>Aat	p.D168N	PUM2_ENST00000536417.1_Missense_Mutation_p.D112N|PUM2_ENST00000403432.1_Missense_Mutation_p.D168N|PUM2_ENST00000319801.5_Missense_Mutation_p.D168N|PUM2_ENST00000338086.5_Missense_Mutation_p.D168N|PUM2_ENST00000420234.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	168	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTGCAATCGGCATCCATT	0.338																																						dbGAP											0													108.0	105.0	106.0					2																	20511271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.502G>A	2.37:g.20511271C>T	ENSP00000354370:p.Asp168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D168N	ENST00000361078.2	37	c.502		2	.	.	.	.	.	.	.	.	.	.	C	32	5.159843	0.94727	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.61040	0.14;0.33;0.41;0.57;0.14;0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.985;0.999	T	0.77469	-0.2576	10	0.72032	D	0.01	-15.3138	20.4434	0.99119	0.0:1.0:0.0:0.0	.	112;168;168	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	N	168;168;168;59;168;112;168	ENSP00000338173:D168N;ENSP00000354370:D168N;ENSP00000326746:D168N;ENSP00000409905:D59N;ENSP00000385992:D168N;ENSP00000440093:D112N	ENSP00000326746:D168N	D	-	1	0	PUM2	20374752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.402000	0.79972	2.838000	0.97847	0.655000	0.94253	GAT	PUM2	-	NULL	ENSG00000055917		0.338	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		108	0.00	0	C	NM_015317		20511271	20511271	-1	no_errors	ENST00000361078	ensembl	human	known	69_37n	missense	118	11.94	16	SNP	1.000	T
PSME4	23198	genome.wustl.edu	37	2	54159138	54159138	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:54159138C>G	ENST00000404125.1	-	10	1205	c.1150G>C	c.(1150-1152)Gat>Cat	p.D384H	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	384					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGTGGCTATCAGGCACAGGA	0.418																																						dbGAP											0													89.0	83.0	85.0					2																	54159138		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1150G>C	2.37:g.54159138C>G	ENSP00000384211:p.Asp384His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.D384H	ENST00000404125.1	37	c.1150	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.709902	0.89018	.	.	ENSG00000068878	ENST00000404125	T	0.24908	1.83	5.73	5.73	0.89815	.	0.286532	0.40064	N	0.001193	T	0.30417	0.0764	L	0.47190	1.495	0.80722	D	1	P	0.51240	0.943	B	0.42827	0.399	T	0.02603	-1.1135	10	0.56958	D	0.05	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	384	Q14997	PSME4_HUMAN	H	384	ENSP00000384211:D384H	ENSP00000374643:D384H	D	-	1	0	PSME4	54012642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.725000	0.61979	2.881000	0.98747	0.650000	0.86243	GAT	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.418	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	57	0.00	0	C	XM_040158		54159138	54159138	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	missense	33	45.00	27	SNP	1.000	G
PSD4	23550	genome.wustl.edu	37	2	113940771	113940771	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:113940771C>T	ENST00000245796.6	+	2	933	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PSD4_ENST00000441564.3_Silent_p.F246F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	246					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATGTTCTTCAGCAACCCCC	0.592																																						dbGAP											0													94.0	93.0	94.0					2																	113940771		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.738C>T	2.37:g.113940771C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.F246	ENST00000245796.6	37	c.738	CCDS33276.1	2																																																																																			PSD4	-	NULL	ENSG00000125637		0.592	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	62	0.00	0	C	NM_012455		113940771	113940771	+1	no_errors	ENST00000245796	ensembl	human	known	69_37n	silent	34	44.26	27	SNP	0.950	T
RAB2B	84932	genome.wustl.edu	37	14	21944761	21944761	+	Intron	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:21944761G>A	ENST00000397762.1	-	2	147				TOX4_ENST00000262709.3_5'Flank|TOX4_ENST00000448790.2_5'Flank|TOX4_ENST00000405508.1_5'Flank|RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family						positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CCCCACACCTGAAAGAGAAAG	0.572											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(131;1007 1750 28652 34486 42672)	dbGAP											0													99.0	94.0	96.0					14																	21944761		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.47-3C>T	14.37:g.21944761G>A		Somatic	752	WXS	Illumina GAIIx	Phase_IV	B2RD03|D3DS24|Q6NZ33	RNA	SNP	-	NULL	ENST00000397762.1	37	NULL	CCDS9570.1	14																																																																																			RAB2B	-	-	ENSG00000129472		0.572	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	33	0.00	0	G			21944761	21944761	-1	no_errors	ENST00000461909	ensembl	human	known	69_37n	rna	40	28.57	16	SNP	0.943	A
RACGAP1	29127	genome.wustl.edu	37	12	50384112	50384112	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:50384112C>G	ENST00000427314.2	-	19	2061	c.1838G>C	c.(1837-1839)aGc>aCc	p.S613T	RACGAP1_ENST00000547905.1_Missense_Mutation_p.S613T|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S613T|RACGAP1_ENST00000434422.1_Missense_Mutation_p.S613T|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S613T|RACGAP1_ENST00000454520.2_Missense_Mutation_p.S613T|RACGAP1_ENST00000548961.1_Intron	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GGCAGACTTGCTTTTGCTCCC	0.353																																						dbGAP											0													119.0	107.0	111.0					12																	50384112		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1838G>C	12.37:g.50384112C>G	ENSP00000404190:p.Ser613Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S613T	ENST00000427314.2	37	c.1838	CCDS8795.1	12	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145240	0.37825	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.69	3.77	0.43336	.	0.205244	0.64402	N	0.000015	T	0.33818	0.0876	M	0.63843	1.955	0.58432	D	0.999996	B	0.09022	0.002	B	0.12156	0.007	T	0.24584	-1.0156	10	0.72032	D	0.01	-10.2474	14.9183	0.70815	0.0:0.8559:0.1441:0.0	.	613	Q9H0H5	RGAP1_HUMAN	T	613	ENSP00000404190:S613T;ENSP00000309871:S613T;ENSP00000413241:S613T;ENSP00000404808:S613T;ENSP00000449374:S613T;ENSP00000449370:S613T	ENSP00000309871:S613T	S	-	2	0	RACGAP1	48670379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.577000	0.67444	1.058000	0.40530	0.563000	0.77884	AGC	RACGAP1	-	NULL	ENSG00000161800		0.353	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	79	0.00	0	C	NM_013277		50384112	50384112	-1	no_errors	ENST00000312377	ensembl	human	known	69_37n	missense	65	35.29	36	SNP	1.000	G
RAD23B	5887	genome.wustl.edu	37	9	110081065	110081065	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:110081065G>A	ENST00000358015.3	+	6	937	c.586G>A	c.(586-588)Gag>Aag	p.E196K	RAD23B_ENST00000416373.2_Missense_Mutation_p.E124K	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	196	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TATGGTAACTGAGATCATGTC	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													142.0	136.0	138.0					9																	110081065		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.586G>A	9.37:g.110081065G>A	ENSP00000350708:p.Glu196Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.E196K	ENST00000358015.3	37	c.586	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.458854	0.96240	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373	T;T	0.23754	1.89;1.89	4.87	4.87	0.63330	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.45228	1.405	0.80722	D	1	D;D;D	0.69078	0.997;0.973;0.974	D;D;D	0.79108	0.992;0.93;0.96	T	0.41875	-0.9484	10	0.66056	D	0.02	-17.2845	18.3721	0.90411	0.0:0.0:1.0:0.0	.	175;196;196	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	K	196;124;124	ENSP00000350708:E196K;ENSP00000405623:E124K	ENSP00000350708:E196K	E	+	1	0	RAD23B	109120886	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.439000	0.97543	2.412000	0.81896	0.561000	0.74099	GAG	RAD23B	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,tigrfam_Rad23	ENSG00000119318		0.413	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	96	0.00	0	G	NM_002874		110081065	110081065	+1	no_errors	ENST00000358015	ensembl	human	known	69_37n	missense	66	38.32	41	SNP	1.000	A
RAD54B	25788	genome.wustl.edu	37	8	95399225	95399225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:95399225G>A	ENST00000336148.5	-	11	2096	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	658	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCAGTAGGTCGAAGTTCGTGG	0.378								Direct reversal of damage;Homologous recombination																														dbGAP											0													97.0	87.0	90.0					8																	95399225		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1972C>T	8.37:g.95399225G>A	ENSP00000336606:p.Arg658*	Somatic		WXS	Illumina GAIIx	Phase_IV	F6WBS8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R658*	ENST00000336148.5	37	c.1972	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.786315	0.98489	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.72	0.275	0.15659	.	0.217082	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-28.0739	4.1264	0.10129	0.3554:0.0:0.4288:0.2158	.	.	.	.	X	658;330	.	ENSP00000336606:R658X	R	-	1	2	RAD54B	95468401	0.998000	0.40836	0.818000	0.32626	0.893000	0.52053	1.109000	0.31135	0.091000	0.17302	0.591000	0.81541	CGA	RAD54B	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C	ENSG00000197275		0.378	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	73	0.00	0	G	NM_012415		95399225	95399225	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	nonsense	58	31.76	27	SNP	0.915	A
RALB	5899	genome.wustl.edu	37	2	121036308	121036308	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:121036308G>A	ENST00000272519.5	+	2	338	c.68G>A	c.(67-69)gGa>gAa	p.G23E	RALB_ENST00000404963.3_Missense_Mutation_p.G23E|RALB_ENST00000470417.1_Intron|RALB_ENST00000474855.2_Missense_Mutation_p.G45E|RALB_ENST00000420510.1_Missense_Mutation_p.G23E	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	23					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G23V(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GTTGGCAGCGGAGGCGTTGGC	0.567																																						dbGAP											1	Substitution - Missense(1)	lung(1)											108.0	83.0	92.0					2																	121036308		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.68G>A	2.37:g.121036308G>A	ENSP00000272519:p.Gly23Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G45E	ENST00000272519.5	37	c.134	CCDS2131.1	2	.	.	.	.	.	.	.	.	.	.	g	34	5.360958	0.95877	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.80214	-1.14;-1.14;-1.14;-1.14;-1.35;-1.14;-1.14	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	M	0.89840	3.065	0.80722	D	1	D;D;D	0.59357	0.985;0.969;0.959	P;P;P	0.61328	0.887;0.601;0.81	D	0.92237	0.5797	10	0.87932	D	0	.	20.2266	0.98341	0.0:0.0:1.0:0.0	.	45;23;23	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	E	45;45;23;23;23;23;23	ENSP00000402866:G45E;ENSP00000438764:G45E;ENSP00000272519:G23E;ENSP00000414224:G23E;ENSP00000384328:G23E;ENSP00000398162:G23E;ENSP00000407062:G23E	ENSP00000272519:G23E	G	+	2	0	RALB	120752778	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	9.620000	0.98373	2.792000	0.96026	0.586000	0.80456	GGA	RALB	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000144118		0.567	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALB	HGNC	protein_coding	OTTHUMT00000254232.3	26	0.00	0	G	NM_002881		121036308	121036308	+1	no_errors	ENST00000474855	ensembl	human	known	69_37n	missense	18	56.10	23	SNP	1.000	A
RAPGEF5	9771	genome.wustl.edu	37	7	22200137	22200137	+	Splice_Site	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:22200137G>A	ENST00000401957.2	-	4	863	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	RAPGEF5_ENST00000344041.6_Splice_Site_p.H356Y			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	206					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AATACTTACTGACGACGGTGC	0.294																																						dbGAP											0													43.0	40.0	41.0					7																	22200137		1761	3956	5717	-	-	-	SO:0001630	splice_region_variant	0			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.617+1C>T	7.37:g.22200137G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D140|Q8IXU5	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H356Y	ENST00000401957.2	37	c.1066		7	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058046	0.55325	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.30714	1.52;1.52;1.52	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);	0.149485	0.64402	D	0.000012	T	0.51736	0.1692	L	0.55481	1.735	0.80722	D	1	B;D	0.76494	0.035;0.999	B;D	0.65684	0.017;0.937	T	0.34875	-0.9811	10	0.40728	T	0.16	.	20.0017	0.97412	0.0:0.0:1.0:0.0	.	206;356	Q92565;A8MQ07	RPGF5_HUMAN;.	Y	356;206;206;206;94	ENSP00000343656:H356Y;ENSP00000384044:H206Y;ENSP00000415664:H94Y	ENSP00000258735:H206Y	H	-	1	0	RAPGEF5	22166662	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.518000	0.90559	2.736000	0.93811	0.637000	0.83480	CAC	RAPGEF5	-	superfamily_Ras_GEF_dom	ENSG00000136237		0.294	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326590.2	70	0.00	0	G	NM_012294	Missense_Mutation	22200137	22200137	-1	no_errors	ENST00000344041	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	A
GBA2	57704	genome.wustl.edu	37	9	35749242	35749242	+	5'Flank	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:35749242C>T	ENST00000378103.3	-	0	0				RGP1_ENST00000456972.2_Missense_Mutation_p.P14S|RGP1_ENST00000378078.4_5'Flank|GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGCGCTTCCGGCCGGAAG	0.781																																						dbGAP											0													4.0	6.0	5.0					9																	35749242		1660	3795	5455	-	-	-	SO:0001631	upstream_gene_variant	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749242C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Rgp1	p.P14S	ENST00000378103.3	37	c.40	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935219	0.92458	.	.	ENSG00000107185	ENST00000456972	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.25638	N	0.986235	.	.	.	.	.	.	T	0.55685	-0.8102	5	0.87932	D	0	.	15.9346	0.79691	0.0:1.0:0.0:0.0	.	.	.	.	S	14	.	ENSP00000409466:P14S	P	+	1	0	RGP1	35739242	0.021000	0.18746	0.996000	0.52242	0.898000	0.52572	1.025000	0.30090	2.640000	0.89533	0.491000	0.48974	CCG	RGP1	-	NULL	ENSG00000107185		0.781	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	22	0.00	0	C	NM_020944		35749242	35749242	+1	no_errors	ENST00000456972	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	0.998	T
RPS6KC1	26750	genome.wustl.edu	37	1	213415448	213415448	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:213415448G>A	ENST00000366960.3	+	11	2779	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E865K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.E665K|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.E580K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	877	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTTAGTGCTAGAAGGAGACAA	0.413																																						dbGAP											0													113.0	117.0	115.0					1																	213415448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2629G>A	1.37:g.213415448G>A	ENSP00000355927:p.Glu877Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.E877K	ENST00000366960.3	37	c.2629	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696836	0.30142	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.39997	1.41;1.42;1.43;1.05	5.91	2.87	0.33458	Protein kinase, catalytic domain (1);	0.558002	0.20370	N	0.093671	T	0.33000	0.0848	L	0.39245	1.2	0.27022	N	0.964454	B;B;B	0.23650	0.089;0.064;0.064	B;B;B	0.30105	0.075;0.111;0.111	T	0.29518	-1.0009	10	0.56958	D	0.05	-27.0071	6.2282	0.20720	0.0694:0.2449:0.5591:0.1267	.	665;877;865	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	K	665;877;865;580	ENSP00000442306:E665K;ENSP00000355927:E877K;ENSP00000355926:E865K;ENSP00000439282:E580K	ENSP00000355926:E865K	E	+	1	0	RPS6KC1	211482071	0.393000	0.25237	0.115000	0.21578	0.899000	0.52679	1.380000	0.34351	0.328000	0.23435	0.655000	0.94253	GAA	RPS6KC1	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000136643		0.413	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	68	0.00	0	G	NM_012424		213415448	213415448	+1	no_errors	ENST00000366960	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	0.589	A
RSF1	51773	genome.wustl.edu	37	11	77404597	77404597	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:77404597C>G	ENST00000308488.6	-	8	3077	c.2775G>C	c.(2773-2775)ctG>ctC	p.L925L	RSF1_ENST00000360355.2_Silent_p.L894L|Y_RNA_ENST00000384089.1_RNA|RSF1_ENST00000480887.1_Silent_p.L673L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	925					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GGATGATCATCAGAGGAGGGC	0.428																																						dbGAP											0													144.0	124.0	131.0					11																	77404597		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2775G>C	11.37:g.77404597C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L925	ENST00000308488.6	37	c.2775	CCDS8253.1	11																																																																																			RSF1	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000048649		0.428	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	76	0.00	0	C	NM_016578		77404597	77404597	-1	no_errors	ENST00000308488	ensembl	human	known	69_37n	silent	87	27.50	33	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	33988664	33988664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:33988664G>T	ENST00000389232.4	+	39	6176	c.6106G>T	c.(6106-6108)Gag>Tag	p.E2036*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E2036*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2036	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGCAAGGAAGAGGAGTTGCT	0.527																																						dbGAP											0													94.0	100.0	98.0					15																	33988664		2091	4227	6318	-	-	-	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6106G>T	15.37:g.33988664G>T	ENSP00000373884:p.Glu2036*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2036*	ENST00000389232.4	37	c.6106	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	48	14.405103	0.99794	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4937	0.90856	0.0:0.0:1.0:0.0	.	.	.	.	X	2036	.	ENSP00000354735:E2036X	E	+	1	0	RYR3	31775956	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.601000	0.98297	2.670000	0.90874	0.650000	0.86243	GAG	RYR3	-	pfam_Ca-rel_channel	ENSG00000198838		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	72	0.00	0	G			33988664	33988664	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	nonsense	67	30.93	30	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34129917	34129917	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:34129917C>T	ENST00000389232.4	+	89	11806	c.11736C>T	c.(11734-11736)ttC>ttT	p.F3912F	RYR3_ENST00000415757.3_Silent_p.F3907F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3912					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTGAAATTCTTTGACATGT	0.393																																						dbGAP											0													72.0	68.0	69.0					15																	34129917		1870	4099	5969	-	-	-	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11736C>T	15.37:g.34129917C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F3912	ENST00000389232.4	37	c.11736	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	51	0.00	0	C			34129917	34129917	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	43	14.00	7	SNP	1.000	T
SAT1	6303	genome.wustl.edu	37	X	23802069	23802069	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:23802069G>A	ENST00000379253.3	+	3	450	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379270.4_Intron|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379251.3_Missense_Mutation_p.E121K|SAT1_ENST00000489394.1_Intron|Y_RNA_ENST00000365402.1_RNA			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						CGGCTGTGTAGAACCACTGAC	0.453																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379253.3:c.271G>A	X.37:g.23802069G>A	ENSP00000368555:p.Glu91Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.E121K	ENST00000379253.3	37	c.361		X	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275734	0.40294	.	.	ENSG00000130066	ENST00000379253;ENST00000379251	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	T	0.45397	0.1340	.	.	.	0.80722	D	1	B	0.30281	0.275	B	0.27715	0.082	T	0.35968	-0.9767	6	.	.	.	.	14.5747	0.68238	0.0:0.0:1.0:0.0	.	91	A6NM56	.	K	91;121	.	.	E	+	1	0	SAT1	23711990	0.023000	0.18921	0.179000	0.23059	0.219000	0.24729	1.159000	0.31749	2.434000	0.82447	0.600000	0.82982	GAA	SAT1	-	NULL	ENSG00000130066		0.453	SAT1-003	KNOWN	basic	protein_coding	SAT1	HGNC	protein_coding	OTTHUMT00000056058.1	35	0.00	0	G	NM_002970		23802069	23802069	+1	no_errors	ENST00000379251	ensembl	human	known	69_37n	missense	25	39.02	16	SNP	0.313	A
SCN1A	6323	genome.wustl.edu	37	2	166850813	166850813	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:166850813C>G	ENST00000303395.4	-	25	4694	c.4695G>C	c.(4693-4695)caG>caC	p.Q1565H	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.Q1565H|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1554H|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1537H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1565					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATATTCACTCTGGTCATCTG	0.393																																						dbGAP											0													148.0	120.0	130.0					2																	166850813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4695G>C	2.37:g.166850813C>G	ENSP00000303540:p.Gln1565His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.Q1565H	ENST00000303395.4	37	c.4695	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495884	0.64186	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.9	2.14	0.27477	.	0.000000	0.64402	D	0.000001	D	0.98588	0.9528	H	0.94222	3.51	0.45261	D	0.998265	D	0.89917	1.0	D	0.83275	0.996	D	0.98387	1.0561	10	0.87932	D	0	.	10.2358	0.43282	0.0:0.6778:0.0:0.3222	.	1554	P35498-2	.	H	1565;1565;1554;1537	ENSP00000407030:Q1565H;ENSP00000303540:Q1565H;ENSP00000364554:Q1554H;ENSP00000386312:Q1537H	ENSP00000303540:Q1565H	Q	-	3	2	SCN1A	166559059	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.423000	0.21313	0.417000	0.25871	0.650000	0.86243	CAG	SCN1A	-	NULL	ENSG00000144285		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	86	0.00	0	C	NM_006920		166850813	166850813	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	52	37.35	31	SNP	1.000	G
SDHB	6390	genome.wustl.edu	37	1	17350557	17350557	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:17350557C>T	ENST00000375499.3	-	6	703	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	185	4Fe-4S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00711}.				aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	AGAATGCACTCGTAGAGCCCG	0.537			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													dbGAP	yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	0													43.0	41.0	42.0					1																	17350557		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.553G>A	1.37:g.17350557C>T	ENSP00000364649:p.Glu185Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.E185K	ENST00000375499.3	37	c.553	CCDS176.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.679201	0.96774	.	.	ENSG00000117118	ENST00000375499	D	0.98585	-5.01	5.43	5.43	0.79202	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99851	1.1072	10	0.87932	D	0	-37.531	18.1699	0.89742	0.0:1.0:0.0:0.0	.	185	P21912	DHSB_HUMAN	K	185	ENSP00000364649:E185K	ENSP00000364649:E185K	E	-	1	0	SDHB	17223144	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.956000	0.76013	2.706000	0.92434	0.655000	0.94253	GAG	SDHB	-	superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S	ENSG00000117118		0.537	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	33	0.00	0	C	NM_003000		17350557	17350557	-1	no_errors	ENST00000375499	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	1.000	T
SEC61A1	29927	genome.wustl.edu	37	3	127786445	127786445	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:127786445C>T	ENST00000243253.3	+	10	1341	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.S392F|SEC61A1_ENST00000424880.2_Missense_Mutation_p.S266F	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	386					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCAGGTTCCTCTGCCAAAGAT	0.453																																						dbGAP											0													81.0	81.0	81.0					3																	127786445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1157C>T	3.37:g.127786445C>T	ENSP00000243253:p.Ser386Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	p.S386F	ENST00000243253.3	37	c.1157	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705646	0.68615	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.05	5.05	0.67936	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	H	0.95470	3.675	0.80722	D	1	D	0.54964	0.969	D	0.75020	0.985	D	0.91435	0.5169	9	0.87932	D	0	.	18.4158	0.90570	0.0:1.0:0.0:0.0	.	386	P61619	S61A1_HUMAN	F	392;386;266	.	ENSP00000243253:S386F	S	+	2	0	SEC61A1	129269135	1.000000	0.71417	0.983000	0.44433	0.282000	0.26991	7.818000	0.86416	2.338000	0.79540	0.655000	0.94253	TCT	SEC61A1	-	pfam_SecY,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	ENSG00000058262		0.453	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	66	0.00	0	C	NM_013336		127786445	127786445	+1	no_errors	ENST00000243253	ensembl	human	known	69_37n	missense	44	43.59	34	SNP	1.000	T
SEMA3D	223117	genome.wustl.edu	37	7	84628816	84628816	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr7:84628816C>G	ENST00000284136.6	-	17	2317	c.2274G>C	c.(2272-2274)aaG>aaC	p.K758N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	758	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GATTTCGTTTCTTCTTCATTT	0.463																																					Ovarian(63;442 1191 17318 29975 31528)	dbGAP											0													180.0	147.0	158.0					7																	84628816		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2274G>C	7.37:g.84628816C>G	ENSP00000284136:p.Lys758Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.K758N	ENST00000284136.6	37	c.2274	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410110	0.62399	.	.	ENSG00000153993	ENST00000284136	T	0.38240	1.15	5.93	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	M	0.72118	2.19	0.80722	D	1	P	0.42692	0.787	B	0.36186	0.219	T	0.32402	-0.9908	10	0.87932	D	0	.	8.773	0.34745	0.0:0.765:0.0:0.235	.	758	O95025	SEM3D_HUMAN	N	758	ENSP00000284136:K758N	ENSP00000284136:K758N	K	-	3	2	SEMA3D	84466752	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.745000	0.38278	2.814000	0.96858	0.655000	0.94253	AAG	SEMA3D	-	NULL	ENSG00000153993		0.463	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	167	0.00	0	C	NM_152754		84628816	84628816	-1	no_errors	ENST00000284136	ensembl	human	known	69_37n	missense	124	27.91	48	SNP	1.000	G
SENP7	57337	genome.wustl.edu	37	3	101046516	101046516	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:101046516G>T	ENST00000394095.2	-	23	3062	c.3009C>A	c.(3007-3009)ttC>ttA	p.F1003L	SENP7_ENST00000314261.7_Missense_Mutation_p.F937L|SENP7_ENST00000358203.3_Missense_Mutation_p.F839L|SENP7_ENST00000394094.2_Missense_Mutation_p.F938L|SENP7_ENST00000394085.3_Missense_Mutation_p.F191L|SENP7_ENST00000394091.1_Missense_Mutation_p.F839L|SENP7_ENST00000348610.3_Missense_Mutation_p.F970L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1003	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATACCTTGAAGAAGCTTTCCA	0.368																																						dbGAP											0													155.0	134.0	141.0					3																	101046516		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.3009C>A	3.37:g.101046516G>T	ENSP00000377655:p.Phe1003Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.F1003L	ENST00000394095.2	37	c.3009	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387411	0.61956	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.33	1.48	0.22813	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.53780	1.695	0.53688	D	0.999978	B;P;B;B;D	0.76494	0.197;0.814;0.406;0.281;0.999	B;P;B;B;D	0.72338	0.083;0.449;0.163;0.193;0.977	T	0.11251	-1.0595	10	0.87932	D	0	-4.5616	9.1043	0.36687	0.351:0.0:0.649:0.0	.	839;937;970;1003;191	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	L	1003;938;937;839;839;191;970	ENSP00000377655:F1003L;ENSP00000377654:F938L;ENSP00000313624:F937L;ENSP00000377651:F839L;ENSP00000350936:F839L;ENSP00000377647:F191L;ENSP00000342159:F970L	ENSP00000313624:F937L	F	-	3	2	SENP7	102529206	1.000000	0.71417	0.982000	0.44146	0.859000	0.49053	2.819000	0.48049	0.051000	0.15978	-0.150000	0.13652	TTC	SENP7	-	pfam_Peptidase_C48,pfscan_Peptidase_C48	ENSG00000138468		0.368	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	114	0.00	0	G	NM_020654		101046516	101046516	-1	no_errors	ENST00000394095	ensembl	human	known	69_37n	missense	66	37.14	39	SNP	0.998	T
SIGLEC1	6614	genome.wustl.edu	37	20	3680054	3680054	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr20:3680054C>T	ENST00000344754.4	-	7	1580	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	SIGLEC1_ENST00000202578.4_Silent_p.V527V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	527	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTCAGTGTCACTGCCTGTC	0.662																																						dbGAP											0													48.0	36.0	40.0					20																	3680054		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1581G>A	20.37:g.3680054C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V527	ENST00000344754.4	37	c.1581	CCDS13060.1	20																																																																																			SIGLEC1	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000088827		0.662	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	26	0.00	0	C	NM_023068		3680054	3680054	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	1.000	T
SLC18A1	6570	genome.wustl.edu	37	8	20036764	20036764	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:20036764G>C	ENST00000276373.5	-	3	622	c.356C>G	c.(355-357)tCa>tGa	p.S119*	SLC18A1_ENST00000437980.1_Nonsense_Mutation_p.S119*|SLC18A1_ENST00000519026.1_Nonsense_Mutation_p.S119*|SLC18A1_ENST00000440926.1_Nonsense_Mutation_p.S119*|SLC18A1_ENST00000381608.4_Nonsense_Mutation_p.S119*|SLC18A1_ENST00000265808.7_Nonsense_Mutation_p.S119*	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	119					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTTATGAGCTGAGATGGCTTC	0.498																																						dbGAP											0													142.0	114.0	124.0					8																	20036764		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.356C>G	8.37:g.20036764G>C	ENSP00000276373:p.Ser119*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ5|Q9BRE4	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.S119*	ENST00000276373.5	37	c.356	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.713875	0.97784	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	.	.	.	5.95	4.9	0.64082	.	0.699639	0.14057	N	0.344313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.0612	13.2905	0.60269	0.0883:0.0:0.9117:0.0	.	.	.	.	X	119	.	ENSP00000265808:S119X	S	-	2	0	SLC18A1	20081044	0.000000	0.05858	0.060000	0.19600	0.155000	0.21991	0.682000	0.25335	2.824000	0.97209	0.655000	0.94253	TCA	SLC18A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.498	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	126	0.00	0	G			20036764	20036764	-1	no_errors	ENST00000276373	ensembl	human	known	69_37n	nonsense	51	59.20	74	SNP	0.011	C
SLC10A5	347051	genome.wustl.edu	37	8	82606549	82606549	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:82606549C>T	ENST00000518568.1	-	1	1860	c.659G>A	c.(658-660)gGg>gAg	p.G220E		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	220						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGATAGCCCCCACCCCCTCC	0.478																																						dbGAP											0													98.0	103.0	101.0					8																	82606549		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.659G>A	8.37:g.82606549C>T	ENSP00000428612:p.Gly220Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN26	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.G220E	ENST00000518568.1	37	c.659	CCDS34915.1	8	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650206	0.87958	.	.	ENSG00000253598	ENST00000518568	T	0.11930	2.73	6.1	5.23	0.72850	.	0.116034	0.39210	N	0.001433	T	0.26011	0.0634	M	0.68593	2.085	0.45250	D	0.998257	D	0.56746	0.977	P	0.51324	0.666	T	0.01795	-1.1272	10	0.62326	D	0.03	-10.7108	13.3776	0.60747	0.0:0.9242:0.0:0.0758	.	220	Q5PT55	NTCP5_HUMAN	E	220	ENSP00000428612:G220E	ENSP00000428612:G220E	G	-	2	0	SLC10A5	82769104	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.641000	0.61375	1.593000	0.50029	0.650000	0.86243	GGG	SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.478	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	23	0.00	0	C	XM_294493		82606549	82606549	-1	no_errors	ENST00000518568	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
SLC25A43	203427	genome.wustl.edu	37	X	118586864	118586864	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:118586864G>C	ENST00000217909.7	+	5	1206	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	SLC25A43_ENST00000488158.1_Intron|SLC25A43_ENST00000336249.7_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	288					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TAGCACCTTTGAGTTCTGCAA	0.363																																						dbGAP											0													77.0	75.0	76.0					X																	118586864		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.862G>C	X.37:g.118586864G>C	ENSP00000217909:p.Glu288Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75854|Q8N9L5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E288Q	ENST00000217909.7	37	c.862	CCDS14577.1	X	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656309	0.88056	.	.	ENSG00000077713	ENST00000217909;ENST00000326714	D	0.88509	-2.39	5.13	5.13	0.70059	Mitochondrial carrier domain (2);	.	.	.	.	D	0.95462	0.8526	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96446	0.9330	9	0.87932	D	0	.	16.6184	0.84922	0.0:0.0:1.0:0.0	.	288	Q8WUT9	S2543_HUMAN	Q	288;236	ENSP00000217909:E288Q	ENSP00000217909:E288Q	E	+	1	0	SLC25A43	118470892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.290000	0.78711	2.126000	0.65437	0.600000	0.82982	GAG	SLC25A43	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000077713		0.363	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	70	0.00	0	G	NM_145305		118586864	118586864	+1	no_errors	ENST00000217909	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	1.000	C
SLC32A1	140679	genome.wustl.edu	37	20	37353517	37353517	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr20:37353517C>G	ENST00000217420.1	+	1	413	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	50					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGACGACCTCGACTTTGAGC	0.652																																						dbGAP											0													36.0	30.0	32.0					20																	37353517		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.150C>G	20.37:g.37353517C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N489	Silent	SNP	pfam_AA_transpt_TM	p.L50	ENST00000217420.1	37	c.150	CCDS13307.1	20																																																																																			SLC32A1	-	NULL	ENSG00000101438		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	9	0.00	0	C	NM_080552		37353517	37353517	+1	no_errors	ENST00000217420	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	1.000	G
SLC35D2	11046	genome.wustl.edu	37	9	99107596	99107596	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:99107596C>G	ENST00000253270.7	-	7	638	c.576G>C	c.(574-576)caG>caC	p.Q192H	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	192					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTCCATTTTCTGTTTGGTAT	0.403																																						dbGAP											0													119.0	102.0	108.0					9																	99107596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.576G>C	9.37:g.99107596C>G	ENSP00000253270:p.Gln192His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA	p.Q192H	ENST00000253270.7	37	c.576	CCDS6717.1	9	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319346	0.60524	.	.	ENSG00000130958	ENST00000253270	T	0.62941	-0.01	5.35	5.35	0.76521	Domain of unknown function DUF250 (1);	0.116067	0.64402	D	0.000015	T	0.62660	0.2446	M	0.66297	2.02	0.80722	D	1	P	0.38110	0.618	B	0.40329	0.326	T	0.65886	-0.6059	10	0.56958	D	0.05	.	11.9786	0.53107	0.0:0.9177:0.0:0.0823	.	192	Q76EJ3	S35D2_HUMAN	H	192	ENSP00000253270:Q192H	ENSP00000253270:Q192H	Q	-	3	2	SLC35D2	98147417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.438000	0.35002	2.780000	0.95670	0.655000	0.94253	CAG	SLC35D2	-	pfam_DUF250,pfam_UAA	ENSG00000130958		0.403	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D2	HGNC	protein_coding	OTTHUMT00000053261.1	102	0.00	0	C			99107596	99107596	-1	no_errors	ENST00000253270	ensembl	human	known	69_37n	missense	70	31.37	32	SNP	1.000	G
SLC5A3	6526	genome.wustl.edu	37	21	35467660	35467660	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr21:35467660C>G	ENST00000381151.3	+	2	675	c.163C>G	c.(163-165)Ctg>Gtg	p.L55V	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.L55V|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	55					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGTGCCTCTCTGTTTGTGAG	0.498																																						dbGAP											0													163.0	154.0	157.0					21																	35467660		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.163C>G	21.37:g.35467660C>G	ENSP00000370543:p.Leu55Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L55V	ENST00000381151.3	37	c.163	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846896	0.51164	.	.	ENSG00000198743	ENST00000381151	D	0.89343	-2.5	6.11	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.91920	3.255	0.41185	D	0.986265	D	0.58970	0.984	P	0.58577	0.841	D	0.94697	0.7879	10	0.87932	D	0	.	12.1988	0.54313	0.0:0.8813:0.0:0.1187	.	55	P53794	SC5A3_HUMAN	V	55	ENSP00000370543:L55V	ENSP00000370543:L55V	L	+	1	2	SLC5A3	34389530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.905000	0.48727	2.907000	0.99374	0.609000	0.83330	CTG	SLC5A3	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000198743		0.498	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	143	0.00	0	C			35467660	35467660	+1	no_errors	ENST00000381151	ensembl	human	known	69_37n	missense	99	39.76	66	SNP	1.000	G
SLC6A12	6539	genome.wustl.edu	37	12	313809	313809	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:313809G>A	ENST00000428720.1	-	4	1013	c.270C>T	c.(268-270)ttC>ttT	p.F90F	SLC6A12_ENST00000424061.2_Silent_p.F90F|SLC6A12_ENST00000359674.4_Silent_p.F90F|SLC6A12_ENST00000538272.1_5'Flank|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.F90F|SLC6A12_ENST00000397296.2_Silent_p.F90F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	90					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCTCCAGGAAGAACACCGGGA	0.582																																						dbGAP											0													79.0	70.0	73.0					12																	313809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.270C>T	12.37:g.313809G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	NULL	p.S51F	ENST00000428720.1	37	c.152	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	G	7.273	0.607486	0.14002	.	.	ENSG00000111181	ENST00000535347	T	0.54866	0.55	4.59	3.7	0.42460	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57004	-0.7885	5	.	.	.	.	12.5531	0.56238	0.0825:0.0:0.9175:0.0	.	.	.	.	F	51	ENSP00000446082:S51F	.	S	-	2	0	SLC6A12	184070	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.665000	0.74442	1.075000	0.40932	0.491000	0.48974	TCT	SLC6A12	-	NULL	ENSG00000111181		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	30	0.00	0	G	NM_003044		313809	313809	-1	no_stop_codon	ENST00000535347	ensembl	human	putative	69_37n	missense	25	37.50	15	SNP	1.000	A
SLFN12L	100506736	genome.wustl.edu	37	17	33802325	33802325	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:33802325C>G	ENST00000260908.7	-	4	1501	c.1384G>C	c.(1384-1386)Gat>Cat	p.D462H	SLFN12L_ENST00000449046.1_Missense_Mutation_p.D493H|SLFN12L_ENST00000361112.4_Missense_Mutation_p.D491H|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	462						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGAAGAGCATCACAGAGGACT	0.458																																						dbGAP											0													106.0	87.0	93.0					17																	33802325		692	1591	2283	-	-	-	SO:0001583	missense	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1384G>C	17.37:g.33802325C>G	ENSP00000437635:p.Asp462His	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.D493H	ENST00000260908.7	37	c.1477	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227897	0.58777	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.21031	2.08;2.24;2.03	2.38	2.38	0.29361	.	.	.	.	.	T	0.45796	0.1360	M	0.84219	2.685	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13791	-1.0496	9	0.87932	D	0	.	8.2105	0.31481	0.0:1.0:0.0:0.0	.	491	Q6IEE8-2	.	H	462;491;493	ENSP00000437635:D462H;ENSP00000354412:D491H;ENSP00000389348:D493H	ENSP00000437635:D462H	D	-	1	0	SLFN12L	30826438	1.000000	0.71417	0.017000	0.16124	0.758000	0.43043	3.885000	0.56182	1.313000	0.45069	0.205000	0.17691	GAT	SLFN12L	-	NULL	ENSG00000205045		0.458	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	93	0.00	0	C	XM_496206		33802325	33802325	-1	no_errors	ENST00000449046	ensembl	human	known	69_37n	missense	69	41.03	48	SNP	0.159	G
SNIP1	79753	genome.wustl.edu	37	1	38018288	38018288	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:38018288C>T	ENST00000296215.6	-	2	357	c.285G>A	c.(283-285)aaG>aaA	p.K95K	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	95	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TTCGGTTTCTCTTACTGCGAG	0.463																																						dbGAP											0													371.0	324.0	340.0					1																	38018288		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.285G>A	1.37:g.38018288C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SP9|Q9H9T7	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K95	ENST00000296215.6	37	c.285	CCDS419.1	1																																																																																			SNIP1	-	NULL	ENSG00000163877		0.463	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	154	0.00	0	C	NM_024700		38018288	38018288	-1	no_errors	ENST00000296215	ensembl	human	known	69_37n	silent	120	39.39	78	SNP	0.996	T
SPEN	23013	genome.wustl.edu	37	1	16202794	16202794	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:16202794G>A	ENST00000375759.3	+	3	706	c.502G>A	c.(502-504)Gat>Aat	p.D168N	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	168	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTACGATCAGGATTACTATAG	0.493																																						dbGAP											0													81.0	74.0	77.0					1																	16202794		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.502G>A	1.37:g.16202794G>A	ENSP00000364912:p.Asp168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D168N	ENST00000375759.3	37	c.502	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146700	0.77888	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.39997	2.9;1.05	5.79	5.79	0.91817	.	.	.	.	.	T	0.55449	0.1921	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	9	0.72032	D	0.01	-8.7901	20.0299	0.97533	0.0:0.0:1.0:0.0	.	168	Q96T58	MINT_HUMAN	N	168;127;127	ENSP00000364912:D168N;ENSP00000388021:D127N	ENSP00000364906:D127N	D	+	1	0	SPEN	16075381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.149000	0.94659	2.748000	0.94277	0.655000	0.94253	GAT	SPEN	-	NULL	ENSG00000065526		0.493	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	52	0.00	0	G	NM_015001		16202794	16202794	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	40	41.18	28	SNP	1.000	A
SOX13	9580	genome.wustl.edu	37	1	204082064	204082064	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:204082064C>G	ENST00000367204.1	+	2	130	c.21C>G	c.(19-21)atC>atG	p.I7M	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	7					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAGCCCCATCTCTGCCCAGC	0.602																																						dbGAP											0													28.0	33.0	31.0					1																	204082064		2029	4195	6224	-	-	-	SO:0001583	missense	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.21C>G	1.37:g.204082064C>G	ENSP00000356172:p.Ile7Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.I7M	ENST00000367204.1	37	c.21	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292388	0.40594	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.97850	-4.57	5.36	5.36	0.76844	.	.	.	.	.	D	0.94902	0.8352	L	0.29908	0.895	0.22330	N	0.999196	B	0.17268	0.021	B	0.19946	0.027	D	0.89639	0.3861	9	0.72032	D	0.01	.	11.6683	0.51387	0.0:0.9154:0.0:0.0846	.	7	Q9UN79	SOX13_HUMAN	M	7	ENSP00000356172:I7M	ENSP00000356172:I7M	I	+	3	3	SOX13	202348687	0.803000	0.28956	0.995000	0.50966	0.995000	0.86356	0.578000	0.23773	2.504000	0.84457	0.585000	0.79938	ATC	SOX13	-	NULL	ENSG00000143842		0.602	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	16	0.00	0	C	NM_005686		204082064	204082064	+1	no_errors	ENST00000367204	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	0.996	G
SPTBN5	51332	genome.wustl.edu	37	15	42162652	42162652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:42162652G>A	ENST00000320955.6	-	30	5781	c.5554C>T	c.(5554-5556)Cag>Tag	p.Q1852*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1852					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACCTGGACCTGGGTGAGGACT	0.627																																						dbGAP											0													57.0	64.0	61.0					15																	42162652		2037	4192	6229	-	-	-	SO:0001587	stop_gained	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5554C>T	15.37:g.42162652G>A	ENSP00000317790:p.Gln1852*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q1852*	ENST00000320955.6	37	c.5554		15	.	.	.	.	.	.	.	.	.	.	.	47	13.401871	0.99740	.	.	ENSG00000137877	ENST00000320955	.	.	.	4.63	3.72	0.42706	.	0.724934	0.12668	N	0.449043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.7434	0.34571	0.106:0.0:0.894:0.0	.	.	.	.	X	1852	.	ENSP00000317790:Q1852X	Q	-	1	0	SPTBN5	39949944	0.167000	0.22975	0.664000	0.29753	0.962000	0.63368	1.256000	0.32921	0.948000	0.37687	0.655000	0.94253	CAG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	59	0.00	0	G	NM_016642		42162652	42162652	-1	no_errors	ENST00000320955	ensembl	human	known	69_37n	nonsense	51	34.62	27	SNP	0.995	A
SRRM5	100170229	genome.wustl.edu	37	19	44116846	44116846	+	Silent	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:44116846G>C	ENST00000607544.1	+	3	895	c.573G>C	c.(571-573)ctG>ctC	p.L191L	SRRM5_ENST00000526798.1_Silent_p.L206L|SRRM5_ENST00000417606.1_Silent_p.L191L|ZNF428_ENST00000300811.3_Intron			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	191	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						CTAGAAATCTGAGCAAGAAGA	0.552																																						dbGAP											0													97.0	107.0	104.0					19																	44116846		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.573G>C	19.37:g.44116846G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNF0	Silent	SNP	NULL	p.L206	ENST00000607544.1	37	c.618	CCDS46095.1	19																																																																																			SRRM5	-	NULL	ENSG00000226763		0.552	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	43	0.00	0	G	NM_001145641		44116846	44116846	+1	no_errors	ENST00000526798	ensembl	human	known	69_37n	silent	32	31.91	15	SNP	0.010	C
SSH3	54961	genome.wustl.edu	37	11	67077339	67077339	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:67077339G>C	ENST00000308127.4	+	12	1487	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	SSH3_ENST00000376757.5_Missense_Mutation_p.E437Q|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	437	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ATGCAGCCTGGAGCAGGCCCT	0.672																																						dbGAP											0													55.0	57.0	57.0					11																	67077339		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1309G>C	11.37:g.67077339G>C	ENSP00000312081:p.Glu437Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E437Q	ENST00000308127.4	37	c.1309	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251332	0.80135	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	D;D;D	0.85702	-2.02;-2.02;-2.02	4.13	4.13	0.48395	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.083271	0.46145	D	0.000302	D	0.86268	0.5892	L	0.31476	0.935	0.58432	D	0.99999	D;B	0.71674	0.998;0.417	D;P	0.65684	0.937;0.472	D	0.84299	0.0504	10	0.27082	T	0.32	-24.2823	15.7157	0.77667	0.0:0.0:1.0:0.0	.	291;437	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Q	437;437;140	ENSP00000312081:E437Q;ENSP00000365948:E437Q;ENSP00000433902:E140Q	ENSP00000312081:E437Q	E	+	1	0	SSH3	66833915	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.742000	0.85008	2.332000	0.79248	0.555000	0.69702	GAG	SSH3	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000172830		0.672	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	19	0.00	0	G	NM_018276		67077339	67077339	+1	no_errors	ENST00000308127	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	C
STARD5	80765	genome.wustl.edu	37	15	81611704	81611704	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:81611704C>G	ENST00000302824.6	-	4	401	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	STARD5_ENST00000559913.1_5'Flank	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	126	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GTCCCATCCTCATATCTCTTG	0.527																																						dbGAP											0													239.0	236.0	237.0					15																	81611704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.376G>C	15.37:g.81611704C>G	ENSP00000304032:p.Glu126Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P59094	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E126Q	ENST00000302824.6	37	c.376	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691316	0.68271	.	.	ENSG00000172345	ENST00000302824	D	0.84873	-1.91	5.14	3.24	0.37175	Lipid-binding START (3);START-like domain (1);	0.187147	0.45606	D	0.000345	D	0.84065	0.5390	M	0.71036	2.16	0.52501	D	0.999955	P	0.49559	0.925	P	0.44990	0.466	T	0.82959	-0.0198	10	0.40728	T	0.16	-5.4238	10.7051	0.45950	0.0:0.838:0.0:0.162	.	126	Q9NSY2	STAR5_HUMAN	Q	126	ENSP00000304032:E126Q	ENSP00000304032:E126Q	E	-	1	0	STARD5	79398759	0.997000	0.39634	0.786000	0.31890	0.836000	0.47400	3.987000	0.56944	1.155000	0.42497	0.491000	0.48974	GAG	STARD5	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000172345		0.527	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	HGNC	protein_coding	OTTHUMT00000303950.2	56	0.00	0	C			81611704	81611704	-1	no_errors	ENST00000302824	ensembl	human	known	69_37n	missense	49	41.67	35	SNP	0.976	G
STK11IP	114790	genome.wustl.edu	37	2	220476372	220476372	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:220476372C>T	ENST00000456909.1	+	18	2241	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	STK11IP_ENST00000295641.10_Silent_p.L728L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	728					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTGGTTCTCCTCGCTGTGT	0.627																																						dbGAP											0													99.0	112.0	108.0					2																	220476372		2077	4202	6279	-	-	-	SO:0001819	synonymous_variant	0			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2151C>T	2.37:g.220476372C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	NULL	p.L717	ENST00000456909.1	37	c.2151		2																																																																																			STK11IP	-	NULL	ENSG00000144589		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	44	0.00	0	C	NM_052902		220476372	220476372	+1	no_errors	ENST00000456909	ensembl	human	novel	69_37n	silent	21	55.32	26	SNP	0.046	T
STXBP5	134957	genome.wustl.edu	37	6	147525812	147525812	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:147525812C>T	ENST00000321680.6	+	1	144	c.144C>T	c.(142-144)ctC>ctT	p.L48L	STXBP5_ENST00000546097.1_Silent_p.L48L|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367481.3_Silent_p.L48L|STXBP5_ENST00000367480.3_Silent_p.L48L|STXBP5_ENST00000179882.6_5'Flank	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	48					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACTTTCAGCTCTGCAAGGTGA	0.607																																						dbGAP											0													31.0	35.0	33.0					6																	147525812		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.144C>T	6.37:g.147525812C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.L48	ENST00000321680.6	37	c.144	CCDS47499.1	6																																																																																			STXBP5	-	smart_WD40_repeat,prints_Lethal2_giant	ENSG00000164506		0.607	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	15	0.00	0	C			147525812	147525812	+1	no_errors	ENST00000321680	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	1.000	T
SUMO2	6613	genome.wustl.edu	37	17	73177269	73177269	+	Silent	SNP	A	A	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:73177269A>T	ENST00000420826.2	-	2	184	c.36T>A	c.(34-36)acT>acA	p.T12T	SUMO2_ENST00000314523.7_Silent_p.T12T|SUMO2_ENST00000578238.1_5'UTR	NM_006937.3	NP_008868.3			small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CGTTGTTCTCAGTCTTGACTC	0.383																																						dbGAP											0													34.0	37.0	36.0					17																	73177269		2197	4297	6494	-	-	-	SO:0001819	synonymous_variant	0				CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"""SMT3 (suppressor of mif two 3, yeast) homolog 2"", ""SMT3 suppressor of mif two 3 homolog 2 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"""	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000420826.2:c.36T>A	17.37:g.73177269A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.T12	ENST00000420826.2	37	c.36	CCDS45774.1	17																																																																																			SUMO2	-	NULL	ENSG00000188612		0.383	SUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO2	HGNC	protein_coding	OTTHUMT00000446614.1	63	0.00	0	A	NM_006937		73177269	73177269	-1	no_errors	ENST00000420826	ensembl	human	known	69_37n	silent	29	40.82	20	SNP	0.998	T
SYT16	83851	genome.wustl.edu	37	14	62550950	62550950	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:62550950C>T	ENST00000430451.2	+	5	1668	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	491					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGCGGTTTCTCACAGTGATAG	0.547																																						dbGAP											0													113.0	109.0	110.0					14																	62550950		1992	4161	6153	-	-	-	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1471C>T	14.37:g.62550950C>T	ENSP00000394700:p.His491Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.H491Y	ENST00000430451.2	37	c.1471	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735082	0.30774	.	.	ENSG00000139973	ENST00000430451	T	0.04119	3.7	5.44	5.44	0.79542	.	0.224693	0.47093	D	0.000242	T	0.06142	0.0159	L	0.44542	1.39	0.80722	D	1	B	0.27823	0.19	B	0.27500	0.08	T	0.30909	-0.9962	10	0.07325	T	0.83	-3.5369	19.4718	0.94966	0.0:1.0:0.0:0.0	.	491	Q17RD7	SYT16_HUMAN	Y	491	ENSP00000394700:H491Y	ENSP00000394700:H491Y	H	+	1	0	SYT16	61620703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.421000	0.52742	2.831000	0.97527	0.643000	0.83706	CAC	SYT16	-	NULL	ENSG00000139973		0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	52	0.00	0	C	NM_031914		62550950	62550950	+1	no_errors	ENST00000430451	ensembl	human	novel	69_37n	missense	47	33.80	24	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64625489	64625489	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr14:64625489G>C	ENST00000344113.4	+	86	16151	c.15939G>C	c.(15937-15939)ttG>ttC	p.L5313F	SYNE2_ENST00000357395.3_Missense_Mutation_p.L1698F|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1698F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5230F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1947F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5313F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5313					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGACCTTGAGATGCCAGG	0.433																																						dbGAP											0													110.0	99.0	103.0					14																	64625489		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15939G>C	14.37:g.64625489G>C	ENSP00000341781:p.Leu5313Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5313F	ENST00000344113.4	37	c.15939	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615066	0.46631	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.78	2.92	0.33932	.	0.151564	0.30159	N	0.010264	T	0.57888	0.2084	M	0.65498	2.005	0.31006	N	0.719764	P;D;D;D;D	0.76494	0.86;0.985;0.992;0.997;0.999	P;P;P;D;D	0.75484	0.661;0.893;0.9;0.986;0.983	T	0.60905	-0.7170	10	0.62326	D	0.03	.	9.0054	0.36109	0.286:0.0:0.714:0.0	.	1698;5236;5230;5313;5313	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	F	5313;1698;5313;5230;5236;1947;1698	ENSP00000350719:L5313F;ENSP00000349969:L1698F;ENSP00000341781:L5313F;ENSP00000452570:L5230F;ENSP00000450831:L1947F;ENSP00000378249:L1698F	ENSP00000261678:L5236F	L	+	3	2	SYNE2	63695242	0.986000	0.35501	0.098000	0.21074	0.600000	0.36913	1.641000	0.37197	0.428000	0.26173	0.655000	0.94253	TTG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	63	0.00	0	G	NM_182914		64625489	64625489	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	53	33.75	27	SNP	0.148	C
SYT6	148281	genome.wustl.edu	37	1	114680259	114680259	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:114680259C>T	ENST00000610222.1	-	3	1075	c.929G>A	c.(928-930)cGc>cAc	p.R310H	SYT6_ENST00000609117.1_Missense_Mutation_p.R225H|SYT6_ENST00000393296.1_Missense_Mutation_p.R310H|SYT6_ENST00000369547.1_Missense_Mutation_p.R225H|SYT6_ENST00000607941.1_Missense_Mutation_p.R225H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	310	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGCAGCTTGCGGTCAGCCAG	0.567																																						dbGAP											0													112.0	103.0	106.0					1																	114680259		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.929G>A	1.37:g.114680259C>T	ENSP00000476396:p.Arg310His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.R310H	ENST00000610222.1	37	c.929		1	.	.	.	.	.	.	.	.	.	.	C	34	5.301065	0.95601	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.047471	0.85682	D	0.000000	T	0.23330	0.0564	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01087	-1.1456	10	0.87932	D	0	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	310	Q5T7P8	SYT6_HUMAN	H	225;310;225;310	ENSP00000358560:R225H;ENSP00000376974:R310H;ENSP00000358559:R225H;ENSP00000358558:R310H	ENSP00000358558:R310H	R	-	2	0	SYT6	114481782	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.815000	0.86186	2.571000	0.86741	0.655000	0.94253	CGC	SYT6	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	ENSG00000134207		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	103	0.00	0	C	NM_205848		114680259	114680259	-1	no_errors	ENST00000369545	ensembl	human	known	69_37n	missense	110	17.78	24	SNP	1.000	T
TAB3	257397	genome.wustl.edu	37	X	30873285	30873285	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:30873285C>T	ENST00000378933.1	-	3	674	c.497G>A	c.(496-498)gGa>gAa	p.G166E	TAB3_ENST00000378930.3_Missense_Mutation_p.G166E|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.G166E|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.G166E	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	166	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CGGATTCATTCCTGTTTGCAT	0.458																																					Pancreas(164;1598 1985 29022 43301 49529)	dbGAP											0													220.0	159.0	180.0					X																	30873285		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.497G>A	X.37:g.30873285C>T	ENSP00000368215:p.Gly166Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.G166E	ENST00000378933.1	37	c.497	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826841	0.50739	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.35	5.01	4.14	0.48551	.	0.109105	0.40908	D	0.000990	D	0.85327	0.5671	L	0.40543	1.245	0.43211	D	0.995076	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86458	0.1777	10	0.72032	D	0.01	-0.7424	15.0418	0.71796	0.0:0.8611:0.1389:0.0	.	166;166	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	E	166	ENSP00000368215:G166E;ENSP00000368212:G166E;ENSP00000288422:G166E;ENSP00000368214:G166E	ENSP00000288422:G166E	G	-	2	0	TAB3	30783206	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.156000	0.58138	1.001000	0.39076	0.600000	0.82982	GGA	TAB3	-	NULL	ENSG00000157625		0.458	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	94	0.00	0	C	NM_152787		30873285	30873285	-1	no_errors	ENST00000288422	ensembl	human	known	69_37n	missense	74	45.19	61	SNP	1.000	T
TAOK3	51347	genome.wustl.edu	37	12	118682749	118682749	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:118682749C>G	ENST00000392533.3	-	4	632	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	TAOK3_ENST00000419821.2_Missense_Mutation_p.E48Q	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCACCACCTCACTGGTGTGA	0.373																																						dbGAP											0													147.0	139.0	142.0					12																	118682749		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.142G>C	12.37:g.118682749C>G	ENSP00000376317:p.Glu48Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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.E48Q	ENST00000392533.3	37	c.142	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402502	0.83230	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.14	5.14	0.70334	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	0.59851	0.2224	N	0.12887	0.27	0.80722	D	1	P	0.44946	0.846	P	0.53360	0.724	T	0.64483	-0.6397	10	0.49607	T	0.09	.	18.8034	0.92027	0.0:1.0:0.0:0.0	.	48	Q9H2K8	TAOK3_HUMAN	Q	48	ENSP00000416374:E48Q;ENSP00000376317:E48Q;ENSP00000443465:E48Q;ENSP00000438820:E48Q;ENSP00000444057:E48Q;ENSP00000440315:E48Q	ENSP00000376317:E48Q	E	-	1	0	TAOK3	117167132	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	7.507000	0.81676	2.665000	0.90641	0.591000	0.81541	GAG	TAOK3	-	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	ENSG00000135090		0.373	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	94	0.00	0	C	NM_016281		118682749	118682749	-1	no_errors	ENST00000392533	ensembl	human	known	69_37n	missense	66	45.45	55	SNP	1.000	G
TARS2	80222	genome.wustl.edu	37	1	150478119	150478119	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:150478119C>G	ENST00000369064.3	+	17	1980	c.1946C>G	c.(1945-1947)tCt>tGt	p.S649C	TARS2_ENST00000606933.1_Missense_Mutation_p.S567C|TARS2_ENST00000369054.2_Missense_Mutation_p.S519C|ECM1_ENST00000346569.6_5'Flank|ECM1_ENST00000369047.4_5'Flank|ECM1_ENST00000369049.4_5'Flank	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	649					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GATGCAGACTCTGGACTGACC	0.547																																						dbGAP											0													87.0	88.0	87.0					1																	150478119		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1946C>G	1.37:g.150478119C>G	ENSP00000358060:p.Ser649Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	p.S649C	ENST00000369064.3	37	c.1946	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355564	0.24598	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.84223	-1.82;-1.82;-1.82	4.53	1.51	0.23008	Anticodon-binding (3);	0.670897	0.14836	N	0.295595	T	0.72581	0.3478	M	0.75264	2.295	0.26094	N	0.980901	B;B;B	0.18013	0.025;0.009;0.003	B;B;B	0.19946	0.027;0.016;0.006	T	0.66677	-0.5863	10	0.48119	T	0.1	-7.5395	9.9849	0.41835	0.1441:0.4385:0.4173:0.0	.	519;374;649	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	C	519;649;374;374	ENSP00000358050:S519C;ENSP00000358060:S649C;ENSP00000358047:S374C	ENSP00000358047:S374C	S	+	2	0	TARS2	148744743	0.000000	0.05858	0.003000	0.11579	0.138000	0.21146	-0.012000	0.12699	0.146000	0.19002	-0.122000	0.15005	TCT	TARS2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-synth_IIa	ENSG00000143374		0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	22	0.00	0	C	NM_025150		150478119	150478119	+1	no_errors	ENST00000369064	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	0.271	G
TET2	54790	genome.wustl.edu	37	4	106157246	106157246	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:106157246C>T	ENST00000540549.1	+	3	3007	c.2147C>T	c.(2146-2148)tCa>tTa	p.S716L	TET2_ENST00000545826.1_Missense_Mutation_p.S716L|TET2_ENST00000413648.2_Missense_Mutation_p.S716L|TET2_ENST00000305737.2_Missense_Mutation_p.S716L|TET2_ENST00000513237.1_Missense_Mutation_p.S737L|TET2_ENST00000380013.4_Missense_Mutation_p.S716L|TET2_ENST00000394764.1_Missense_Mutation_p.S716L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	716	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S716fs*35(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTTCAAACTCACACCTTTTG	0.418			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											74.0	77.0	76.0					4																	106157246		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2147C>T	4.37:g.106157246C>T	ENSP00000442788:p.Ser716Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.S716L	ENST00000540549.1	37	c.2147	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729948	0.69074	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.21	5.21	0.72293	.	16.658500	0.00166	N	0.000002	T	0.35364	0.0929	N	0.24115	0.695	0.22096	N	0.99936	P;P;D	0.76494	0.953;0.953;0.999	P;P;D	0.65323	0.469;0.469;0.934	T	0.58036	-0.7707	10	0.87932	D	0	.	16.9453	0.86228	0.0:1.0:0.0:0.0	.	737;716;716	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	L	716;716;716;737;716;716;716	ENSP00000306705:S716L;ENSP00000442788:S716L;ENSP00000442867:S716L;ENSP00000425443:S737L;ENSP00000369351:S716L;ENSP00000378245:S716L;ENSP00000391448:S716L	ENSP00000265149:S716L	S	+	2	0	TET2	106376695	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	1.875000	0.39578	2.427000	0.82271	0.655000	0.94253	TCA	TET2	-	NULL	ENSG00000168769		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	62	0.00	0	C	NM_017628		106157246	106157246	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	T
TGFBR1	7046	genome.wustl.edu	37	9	101891278	101891278	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:101891278G>A	ENST00000374994.4	+	2	356	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	TGFBR1_ENST00000550253.1_Missense_Mutation_p.R11Q|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R80Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R80Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	80					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAATTCCTCGAGATAGGCCG	0.418																																						dbGAP											0													112.0	93.0	99.0					9																	101891278		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.239G>A	9.37:g.101891278G>A	ENSP00000364133:p.Arg80Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R80Q	ENST00000374994.4	37	c.239	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194955	0.58017	.	.	ENSG00000106799	ENST00000547314;ENST00000552573;ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000546096;ENST00000549021;ENST00000548365;ENST00000550253;ENST00000546584	T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	6.08	6.08	0.98989	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	L	0.33485	1.01	0.44927	D	0.997949	D;P;B	0.64830	0.994;0.681;0.021	P;B;B	0.46975	0.533;0.093;0.028	T	0.61695	-0.7010	10	0.13853	T	0.58	.	13.4046	0.60903	0.0749:0.0:0.9251:0.0	.	11;80;80	F8VRH6;P36897-3;P36897	.;.;TGFR1_HUMAN	Q	11;11;80;80;80;80;65;11;11;11;77	ENSP00000449934:R11Q;ENSP00000447182:R11Q;ENSP00000364133:R80Q;ENSP00000364129:R80Q;ENSP00000447297:R80Q;ENSP00000449028:R11Q;ENSP00000448518:R11Q;ENSP00000450052:R11Q;ENSP00000447707:R77Q	ENSP00000364129:R80Q	R	+	2	0	TGFBR1	100931099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.938000	0.56583	2.894000	0.99253	0.591000	0.81541	CGA	TGFBR1	-	pfam_Activin_rcpt	ENSG00000106799		0.418	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	67	0.00	0	G			101891278	101891278	+1	no_errors	ENST00000374994	ensembl	human	known	69_37n	missense	43	37.68	26	SNP	1.000	A
THADA	63892	genome.wustl.edu	37	2	43779422	43779422	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:43779422G>C	ENST00000405006.4	-	18	3082	c.2731C>G	c.(2731-2733)Ctg>Gtg	p.L911V	THADA_ENST00000415080.2_Missense_Mutation_p.L621V|THADA_ENST00000330266.7_Missense_Mutation_p.L621V|THADA_ENST00000405975.2_Missense_Mutation_p.L911V|THADA_ENST00000402360.2_Missense_Mutation_p.L911V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	911										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCTGAAGCAGAGAATTTTCA	0.388																																						dbGAP											0													54.0	53.0	54.0					2																	43779422		1881	4115	5996	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2731C>G	2.37:g.43779422G>C	ENSP00000385995:p.Leu911Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.L911V	ENST00000405006.4	37	c.2731	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413743	0.62511	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360	T;T;T;T;T	0.53423	0.62;1.89;1.92;1.89;0.72	5.86	0.87	0.19102	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.62684	0.2448	M	0.65498	2.005	0.39128	D	0.961808	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.999;0.991	T	0.63825	-0.6549	10	0.72032	D	0.01	.	11.3217	0.49426	0.5304:0.0:0.4696:0.0	.	621;912;911;621;911	Q6YHU6-2;B6ZDQ0;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	V	621;911;912;621;911;911	ENSP00000331105:L621V;ENSP00000386088:L911V;ENSP00000416048:L621V;ENSP00000385995:L911V;ENSP00000385441:L911V	ENSP00000331105:L621V	L	-	1	2	THADA	43632926	1.000000	0.71417	0.763000	0.31416	0.974000	0.67602	1.111000	0.31159	-0.118000	0.11851	0.591000	0.81541	CTG	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.388	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	33	0.00	0	G	NM_022065		43779422	43779422	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	0.920	C
TIAM2	26230	genome.wustl.edu	37	6	155451141	155451141	+	Missense_Mutation	SNP	G	G	A	rs182530977		TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:155451141G>A	ENST00000461783.3	+	6	2057	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TIAM2_ENST00000529824.2_Missense_Mutation_p.E262K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E262K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E262K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.E262K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	262					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCTGAGCGAGGCTGAGGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18161	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													63.0	64.0	63.0					6																	155451141		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.784G>A	6.37:g.155451141G>A	ENSP00000437188:p.Glu262Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.E262K	ENST00000461783.3	37	c.784	CCDS34558.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.6	4.845376	0.91197	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.08984	3.14;3.03;3.12;3.14;3.18;3.12	5.09	5.09	0.68999	.	0.138612	0.52532	D	0.000062	T	0.06645	0.0170	M	0.65975	2.015	0.80722	D	1	P	0.50819	0.939	B	0.37650	0.255	T	0.14144	-1.0483	10	0.62326	D	0.03	.	17.0546	0.86530	0.0:0.0:1.0:0.0	.	262	Q8IVF5	TIAM2_HUMAN	K	262;508;262;262;262;262;262	ENSP00000437188:E262K;ENSP00000434901:E262K;ENSP00000407746:E262K;ENSP00000327315:E262K;ENSP00000353528:E262K;ENSP00000433348:E262K	ENSP00000327315:E262K	E	+	1	0	TIAM2	155492833	1.000000	0.71417	0.694000	0.30210	0.822000	0.46500	8.843000	0.92142	2.525000	0.85131	0.655000	0.94253	GAG	TIAM2	-	NULL	ENSG00000146426		0.617	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	21	0.00	0	G	NM_012454		155451141	155451141	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	1.000	A
TK1	7083	genome.wustl.edu	37	17	76171214	76171214	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr17:76171214C>T	ENST00000301634.7	-	6	668	c.430G>A	c.(430-432)Gag>Aag	p.E144K	TK1_ENST00000405273.1_Missense_Mutation_p.E144K|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000588734.1_Missense_Mutation_p.E144K|TK1_ENST00000590862.1_Missense_Mutation_p.E144K	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	144					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	ACCACGCTCTCGGCCAGCGGC	0.597																																						dbGAP											0													37.0	35.0	35.0					17																	76171214		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.430G>A	17.37:g.76171214C>T	ENSP00000301634:p.Glu144Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	pfam_Thymidine_kinase	p.E144K	ENST00000301634.7	37	c.430	CCDS11754.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.951576	0.97139	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90556	0.7040	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93392	0.6752	9	0.87932	D	0	-15.0569	19.7591	0.96306	0.0:1.0:0.0:0.0	.	144;144	B5BU32;P04183	.;KITH_HUMAN	K	144	.	ENSP00000301634:E144K	E	-	1	0	TK1	73682809	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	4.845000	0.62853	2.681000	0.91329	0.655000	0.94253	GAG	TK1	-	pfam_Thymidine_kinase	ENSG00000167900		0.597	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TK1	HGNC	protein_coding	OTTHUMT00000319577.1	11	0.00	0	C	NM_003258		76171214	76171214	-1	no_errors	ENST00000588734	ensembl	human	known	69_37n	missense	5	66.67	10	SNP	1.000	T
TMC3	342125	genome.wustl.edu	37	15	81630256	81630256	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:81630256G>A	ENST00000359440.5	-	19	2226	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.I698I|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAGATAATAGATGAGCATGC	0.443																																						dbGAP											0													140.0	141.0	141.0					15																	81630256		2017	4194	6211	-	-	-	SO:0001819	synonymous_variant	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2091C>T	15.37:g.81630256G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TMC	p.I697	ENST00000359440.5	37	c.2091	CCDS45324.1	15																																																																																			TMC3	-	NULL	ENSG00000188869		0.443	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	131	0.00	0	G	NM_181841		81630256	81630256	-1	no_errors	ENST00000359440	ensembl	human	known	69_37n	silent	89	39.04	57	SNP	1.000	A
TMEM132D	121256	genome.wustl.edu	37	12	130184752	130184752	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:130184752G>A	ENST00000422113.2	-	2	897	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	191					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)		GCCACGCACAGCCCCAGGTCC	0.716																																						dbGAP											0													15.0	17.0	16.0					12																	130184752		2200	4295	6495	-	-	-	SO:0001819	synonymous_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.571C>T	12.37:g.130184752G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.L191	ENST00000422113.2	37	c.571	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.716	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	15	0.00	0	G	NM_133448		130184752	130184752	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	silent	12	36.84	7	SNP	1.000	A
TMEM67	91147	genome.wustl.edu	37	8	94767236	94767236	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:94767236C>T	ENST00000453321.3	+	1	152	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	32					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTTCCTCCCTCGCTTCTTACA	0.602																																						dbGAP											0													127.0	120.0	122.0					8																	94767236		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.94C>T	8.37:g.94767236C>T	ENSP00000389998:p.Arg32Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt	p.R32C	ENST00000453321.3	37	c.94	CCDS6258.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.338189|3.338189	0.60963|0.60963	.|.	.|.	ENSG00000164953|ENSG00000164953	ENST00000453321;ENST00000453906|ENST00000521517	D;D|.	0.97480|.	-4.4;-3.82|.	5.35|5.35	-9.8|-9.8	0.00490|0.00490	.|.	1.045500|.	0.07408|.	N|.	0.891901|.	T|T	0.31009|0.31009	0.0783|0.0783	L|L	0.44542|0.44542	1.39|1.39	0.19300|0.19300	N|N	0.999976|0.999976	P;D;B|.	0.71674|.	0.698;0.998;0.105|.	B;P;B|.	0.56700|.	0.132;0.804;0.018|.	T|T	0.35574|0.35574	-0.9783|-0.9783	10|5	0.49607|.	T|.	0.09|.	4.7649|4.7649	7.7033|7.7033	0.28636|0.28636	0.3309:0.1067:0.496:0.0664|0.3309:0.1067:0.496:0.0664	.|.	32;32;32|.	Q5HYA8;F8WCQ6;E5RH38|.	MKS3_HUMAN;.;.|.	C|L	32|29	ENSP00000389998:R32C;ENSP00000403035:R32C|.	ENSP00000314488:R22C|.	R|S	+|+	1|2	0|0	TMEM67|TMEM67	94836412|94836412	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.646000|-1.646000	0.01998|0.01998	-1.409000|-1.409000	0.02038|0.02038	-1.080000|-1.080000	0.02220|0.02220	CGC|TCG	TMEM67	-	NULL	ENSG00000164953		0.602	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	52	0.00	0	C	NM_153704		94767236	94767236	+1	no_errors	ENST00000453321	ensembl	human	known	69_37n	missense	42	46.84	37	SNP	0.000	T
TMPO	7112	genome.wustl.edu	37	12	98926657	98926657	+	Intron	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:98926657G>A	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.E208K|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTTTTTCTGAACTTGGAAC	0.443																																						dbGAP											0													95.0	100.0	98.0					12																	98926657		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1041G>A	12.37:g.98926657G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2T926|Q14861	Missense_Mutation	SNP	pfam_LAP2alpha,pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.E208K	ENST00000556029.1	37	c.622	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565571	0.65651	.	.	ENSG00000120802	ENST00000266732	T	0.29655	1.56	5.43	4.53	0.55603	.	0.166036	0.52532	D	0.000077	T	0.20861	0.0502	N	0.24115	0.695	0.80722	D	1	P	0.45044	0.849	B	0.40165	0.321	T	0.02173	-1.1201	10	0.36615	T	0.2	.	11.4986	0.50424	0.0:0.0:0.8205:0.1795	.	208	P42166	LAP2A_HUMAN	K	208	ENSP00000266732:E208K	ENSP00000266732:E208K	E	+	1	0	TMPO	97450788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.489000	0.60309	1.264000	0.44198	0.557000	0.71058	GAA	TMPO	-	NULL	ENSG00000120802		0.443	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	29	0.00	0	G	NM_003276		98926657	98926657	+1	no_errors	ENST00000266732	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	A
TNMD	64102	genome.wustl.edu	37	X	99840058	99840058	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:99840058C>G	ENST00000373031.4	+	1	260	c.43C>G	c.(43-45)Cta>Gta	p.L15V		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	15					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CTGTCACATTCTAAATGTAAG	0.393																																						dbGAP											0													110.0	95.0	100.0					X																	99840058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.43C>G	X.37:g.99840058C>G	ENSP00000362122:p.Leu15Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.L15V	ENST00000373031.4	37	c.43	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154296	0.21371	.	.	ENSG00000000005	ENST00000373031	T	0.34859	1.34	4.82	3.04	0.35103	.	0.225856	0.29972	N	0.010723	T	0.23330	0.0564	N	0.08118	0	0.30291	N	0.790417	P	0.46578	0.88	P	0.50270	0.636	T	0.10019	-1.0648	10	0.20519	T	0.43	-5.0968	7.1363	0.25531	0.0:0.7819:0.0:0.2181	.	15	Q9H2S6	TNMD_HUMAN	V	15	ENSP00000362122:L15V	ENSP00000362122:L15V	L	+	1	2	TNMD	99726714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.779000	0.26746	0.403000	0.25479	0.529000	0.55759	CTA	TNMD	-	NULL	ENSG00000000005		0.393	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	69	0.00	0	C	NM_022144		99840058	99840058	+1	no_errors	ENST00000373031	ensembl	human	known	69_37n	missense	58	42.57	43	SNP	1.000	G
TRAPPC6A	79090	genome.wustl.edu	37	19	45666465	45666465	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:45666465C>T	ENST00000585934.1	-	6	483	c.465G>A	c.(463-465)gtG>gtA	p.V155V	TRAPPC6A_ENST00000006275.4_Silent_p.V169V|TRAPPC6A_ENST00000592647.1_3'UTR|TRAPPC6A_ENST00000588062.1_3'UTR	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	155					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		ATTTCGGAATCACCACCTGGA	0.652																																						dbGAP											0													108.0	84.0	92.0					19																	45666465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.465G>A	19.37:g.45666465C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Silent	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd	p.V169	ENST00000585934.1	37	c.507	CCDS59397.1	19																																																																																			TRAPPC6A	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000007255		0.652	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC6A	HGNC	protein_coding	OTTHUMT00000457556.1	51	0.00	0	C	NM_024108		45666465	45666465	-1	no_errors	ENST00000006275	ensembl	human	known	69_37n	silent	41	46.05	35	SNP	1.000	T
TRAPPC8	22878	genome.wustl.edu	37	18	29496332	29496332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr18:29496332G>A	ENST00000283351.4	-	4	855	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	TRAPPC8_ENST00000582539.1_Nonsense_Mutation_p.Q120*|TRAPPC8_ENST00000582513.1_Nonsense_Mutation_p.Q174*	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	174					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTTGTGCTGAATTCGATGC	0.373																																						dbGAP											0													137.0	114.0	122.0					18																	29496332		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.520C>T	18.37:g.29496332G>A	ENSP00000283351:p.Gln174*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP15|B3KME5|Q9H0L2	Nonsense_Mutation	SNP	NULL	p.Q174*	ENST00000283351.4	37	c.520	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.606547	0.96626	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000283351:Q174X	Q	-	1	0	TRAPPC8	27750330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.416000	0.97383	2.665000	0.90641	0.585000	0.79938	CAG	TRAPPC8	-	NULL	ENSG00000153339		0.373	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	84	0.00	0	G	NM_014939		29496332	29496332	-1	no_errors	ENST00000283351	ensembl	human	known	69_37n	nonsense	79	29.46	33	SNP	1.000	A
TSHZ2	128553	genome.wustl.edu	37	20	51872689	51872689	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr20:51872689C>T	ENST00000371497.5	+	2	3579	c.2692C>T	c.(2692-2694)Cac>Tac	p.H898Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.H895Y|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H895Y|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	898					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACTATCAGTCACTGGCTGGC	0.483																																						dbGAP											0													77.0	76.0	76.0					20																	51872689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2692C>T	20.37:g.51872689C>T	ENSP00000360552:p.His898Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.H898Y	ENST00000371497.5	37	c.2692	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057787	0.76074	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.28666	1.62;1.6	5.8	5.8	0.92144	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.51293	-0.8724	10	0.87932	D	0	-7.0045	20.0431	0.97598	0.0:1.0:0.0:0.0	.	898	Q9NRE2	TSH2_HUMAN	Y	898;895;424	ENSP00000360552:H898Y;ENSP00000333114:H895Y	ENSP00000333114:H895Y	H	+	1	0	TSHZ2	51306096	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.482000	0.81143	2.732000	0.93576	0.643000	0.83706	CAC	TSHZ2	-	superfamily_Homeodomain-like,smart_Homeodomain	ENSG00000182463		0.483	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	42	0.00	0	C	NM_173485		51872689	51872689	+1	no_errors	ENST00000371497	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	T
TSPYL5	85453	genome.wustl.edu	37	8	98288845	98288845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:98288845G>A	ENST00000322128.3	-	1	1331	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	410					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACCCCAGGCTGAGTAGTCTCC	0.527																																						dbGAP											0													201.0	202.0	202.0					8																	98288845		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1228C>T	8.37:g.98288845G>A	ENSP00000322802:p.Gln410*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRF0|Q9C0B3	Nonsense_Mutation	SNP	pfam_NAP_family	p.Q410*	ENST00000322128.3	37	c.1228	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913048	0.72983	.	.	ENSG00000180543	ENST00000322128	.	.	.	3.99	-2.14	0.07123	.	2.335830	0.02780	N	0.120817	.	.	.	.	.	.	0.27910	N	0.938637	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.2033	0.15277	0.0:0.3866:0.1572:0.4562	.	.	.	.	X	410	.	ENSP00000322802:Q410X	Q	-	1	0	TSPYL5	98358021	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.409000	0.07160	-0.456000	0.07043	-0.311000	0.09066	CAG	TSPYL5	-	NULL	ENSG00000180543		0.527	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	76	0.00	0	G	NM_033512		98288845	98288845	-1	no_errors	ENST00000322128	ensembl	human	known	69_37n	nonsense	81	36.22	46	SNP	0.000	A
TSSC1	7260	genome.wustl.edu	37	2	3381440	3381440	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:3381440C>T	ENST00000382125.4	-	1	213	c.21G>A	c.(19-21)gtG>gtA	p.V7V	TRAPPC12_ENST00000324266.5_5'Flank|TSSC1_ENST00000398659.4_Silent_p.V7V|TSSC1_ENST00000443925.2_Silent_p.V7V|TRAPPC12_ENST00000382110.2_5'Flank	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	7										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCCCGTAGATCACTGGTGCAT	0.677																																					Colon(140;1261 1762 4183 34270 49743)	dbGAP											0													66.0	43.0	51.0					2																	3381440		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.21G>A	2.37:g.3381440C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V7	ENST00000382125.4	37	c.21	CCDS1651.1	2																																																																																			TSSC1	-	NULL	ENSG00000032389		0.677	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	13	0.00	0	C	NM_003310		3381440	3381440	-1	no_errors	ENST00000382125	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	0.996	T
TTC30B	150737	genome.wustl.edu	37	2	178416741	178416741	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:178416741C>T	ENST00000408939.3	-	1	1001	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	251					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AAGGCTTCCACCAGAGCAGTC	0.537																																						dbGAP											0													110.0	111.0	111.0					2																	178416741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.751G>A	2.37:g.178416741C>T	ENSP00000386181:p.Val251Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HQ1|Q96NE6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.V251M	ENST00000408939.3	37	c.751	CCDS42784.1	2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012735	0.54468	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.27402	1.67	4.65	4.65	0.58169	Tetratricopeptide-like helical (1);	0.119534	0.64402	D	0.000011	T	0.47229	0.1434	M	0.79123	2.44	0.48040	D	0.999572	P	0.51653	0.947	P	0.53861	0.736	T	0.50972	-0.8764	10	0.72032	D	0.01	.	11.5637	0.50792	0.0:0.9175:0.0:0.0825	.	251	Q8N4P2	TT30B_HUMAN	M	204;251	ENSP00000386181:V251M	ENSP00000386181:V251M	V	-	1	0	TTC30B	178124987	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.546000	0.60705	2.575000	0.86900	0.655000	0.94253	GTG	TTC30B	-	NULL	ENSG00000196659		0.537	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	52	0.00	0	C	NM_152517		178416741	178416741	-1	no_errors	ENST00000408939	ensembl	human	known	69_37n	missense	40	34.43	21	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179425272	179425272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:179425272delA	ENST00000591111.1	-	276	80888	c.80664delT	c.(80662-80664)aatfs	p.N26888fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.N25961fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.N19464fs|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.N19589fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.N19656fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.N28529fs|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26888	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATATTTATTAACACCAG	0.383																																						dbGAP											0													53.0	53.0	53.0					2																	179425272		1859	4100	5959	-	-	-	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80664delT	2.37:g.179425272delA	ENSP00000465570:p.Asn26888fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N25961fs	ENST00000591111.1	37	c.77883		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	50	0.00	0	A	NM_133378		179425272	179425272	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	30	33.33	15	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179495060	179495060	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:179495060G>C	ENST00000591111.1	-	189	39490	c.39266C>G	c.(39265-39267)tCc>tGc	p.S13089C	TTN_ENST00000342992.6_Missense_Mutation_p.S12162C|TTN_ENST00000460472.2_Missense_Mutation_p.S5665C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5790C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S5857C|TTN_ENST00000589042.1_Missense_Mutation_p.S14730C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13089					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAACAAGGGAGTGTATTTT	0.393																																						dbGAP											0													81.0	83.0	82.0					2																	179495060		1839	4071	5910	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39266C>G	2.37:g.179495060G>C	ENSP00000465570:p.Ser13089Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S12162C	ENST00000591111.1	37	c.36485		2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747610	0.30955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	6.04	3.57	0.40892	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24275	0.0588	N	0.25245	0.725	0.21802	N	0.999534	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21965	-1.0230	9	0.87932	D	0	.	6.874	0.24137	0.7401:0.1265:0.1334:0.0	.	5665;5790;5857;13089	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	12162;5665;5857;5790;5665	ENSP00000343764:S12162C;ENSP00000434586:S5665C;ENSP00000340554:S5857C;ENSP00000352154:S5790C	ENSP00000340554:S5857C	S	-	2	0	TTN	179203305	0.997000	0.39634	0.993000	0.49108	0.982000	0.71751	2.328000	0.43867	0.531000	0.28639	-0.440000	0.05779	TCC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	78	0.00	0	G	NM_133378		179495060	179495060	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	47	32.86	23	SNP	0.999	C
UGGT2	55757	genome.wustl.edu	37	13	96489411	96489411	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr13:96489411G>A	ENST00000376747.3	-	37	4400	c.4330C>T	c.(4330-4332)Cct>Tct	p.P1444S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1444	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAGTCTTGAGGAAGAGACTTA	0.368																																						dbGAP											0													143.0	129.0	134.0					13																	96489411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4330C>T	13.37:g.96489411G>A	ENSP00000365938:p.Pro1444Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.P1444S	ENST00000376747.3	37	c.4330	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483775	0.84854	.	.	ENSG00000102595	ENST00000376747	T	0.26223	1.75	5.65	5.65	0.86999	.	0.051562	0.85682	D	0.000000	T	0.60170	0.2248	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67465	-0.5664	10	0.59425	D	0.04	-18.3012	14.2728	0.66162	0.0714:0.0:0.9286:0.0	.	1444	Q9NYU1	UGGG2_HUMAN	S	1444	ENSP00000365938:P1444S	ENSP00000365938:P1444S	P	-	1	0	UGGT2	95287412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.821000	0.97095	0.561000	0.74099	CCT	UGGT2	-	pfam_Glyco_trans_8	ENSG00000102595		0.368	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	132	0.00	0	G	NM_020121		96489411	96489411	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	97	34.90	52	SNP	1.000	A
UGT2B17	7367	genome.wustl.edu	37	4	69433999	69433999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:69433999delT	ENST00000317746.2	-	1	246	c.204delA	c.(202-204)aaafs	p.K68fs		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	68					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TAGCAGATGATTTACTGGCAT	0.323																																					Melanoma(18;649 833 28984 37818 38500)	dbGAP											0													97.0	100.0	99.0					4																	69433999		2121	4034	6155	-	-	-	SO:0001589	frameshift_variant	0			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.204delA	4.37:g.69433999delT	ENSP00000320401:p.Lys68fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K68fs	ENST00000317746.2	37	c.204	CCDS3523.1	4																																																																																			UGT2B17	-	pfam_UDP_glucos_trans	ENSG00000197888		0.323	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	40	0.00	0	T	NM_001077		69433999	69433999	-1	no_errors	ENST00000317746	ensembl	human	known	69_37n	frame_shift_del	25	10.71	3	DEL	0.000	-
UHRF1BP1L	23074	genome.wustl.edu	37	12	100452152	100452152	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr12:100452152G>C	ENST00000279907.7	-	14	3115	c.2903C>G	c.(2902-2904)tCa>tGa	p.S968*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.S618*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	968										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATGTTTATCTGATAAATAGTC	0.338																																						dbGAP											0													52.0	57.0	55.0					12																	100452152		2200	4293	6493	-	-	-	SO:0001587	stop_gained	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2903C>G	12.37:g.100452152G>C	ENSP00000279907:p.Ser968*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	NULL	p.S968*	ENST00000279907.7	37	c.2903	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.877039	0.98539	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.87	5.87	0.94306	.	0.401484	0.26136	N	0.026127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5471	20.2245	0.98337	0.0:0.0:1.0:0.0	.	.	.	.	X	968;618	.	ENSP00000279907:S968X	S	-	2	0	UHRF1BP1L	98976283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.102000	0.64572	2.770000	0.95276	0.650000	0.86243	TCA	UHRF1BP1L	-	NULL	ENSG00000111647		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	32	0.00	0	G	NM_001006947		100452152	100452152	-1	no_errors	ENST00000279907	ensembl	human	known	69_37n	nonsense	19	36.67	11	SNP	1.000	C
UNC13C	440279	genome.wustl.edu	37	15	54306762	54306762	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:54306762C>T	ENST00000260323.11	+	1	1662	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S	UNC13C_ENST00000537900.1_Silent_p.S554S|UNC13C_ENST00000545554.1_Silent_p.S554S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	554					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGATTTTTCCAAATTGTGTC	0.408																																						dbGAP											0													49.0	48.0	48.0					15																	54306762		1824	4094	5918	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1662C>T	15.37:g.54306762C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S554	ENST00000260323.11	37	c.1662	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	44	0.00	0	C	NM_173166		54306762	54306762	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	32	43.86	25	SNP	1.000	T
USP28	57646	genome.wustl.edu	37	11	113704158	113704158	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr11:113704158G>A	ENST00000003302.4	-	7	811	c.743C>T	c.(742-744)tCa>tTa	p.S248L	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Missense_Mutation_p.S123L|USP28_ENST00000260188.5_Missense_Mutation_p.S248L|USP28_ENST00000537706.1_Missense_Mutation_p.S248L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	248	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTCCTCAGATGATCGGAATGC	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	dbGAP											0													132.0	131.0	132.0					11																	113704158		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.743C>T	11.37:g.113704158G>A	ENSP00000003302:p.Ser248Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.S248L	ENST00000003302.4	37	c.743	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.213952	0.95104	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.45668	1.51;1.51;1.51;0.89;1.51;3.58	4.73	4.73	0.59995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.127197	0.53938	D	0.000046	T	0.54983	0.1892	L	0.49455	1.56	0.53688	D	0.999972	D;D;P;D	0.59357	0.975;0.985;0.949;0.974	P;P;P;P	0.60789	0.766;0.703;0.877;0.879	T	0.46843	-0.9162	10	0.25106	T	0.35	-8.8134	17.9653	0.89098	0.0:0.0:1.0:0.0	.	248;123;248;248	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	L	248;248;123;12;248;147	ENSP00000003302:S248L;ENSP00000260188:S248L;ENSP00000444991:S123L;ENSP00000442257:S12L;ENSP00000445743:S248L;ENSP00000440799:S147L	ENSP00000003302:S248L	S	-	2	0	USP28	113209368	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.224000	0.95209	2.488000	0.83962	0.553000	0.69018	TCA	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000048028		0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	59	0.00	0	G			113704158	113704158	-1	no_errors	ENST00000003302	ensembl	human	known	69_37n	missense	39	39.06	25	SNP	1.000	A
USP53	54532	genome.wustl.edu	37	4	120213506	120213506	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr4:120213506G>A	ENST00000274030.6	+	19	3541	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP53_ENST00000450251.1_Missense_Mutation_p.E788K	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACATGTACATGAAGACAATGG	0.328																																						dbGAP											0													50.0	45.0	47.0					4																	120213506		1844	4094	5938	-	-	-	SO:0001583	missense	0			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2362G>A	4.37:g.120213506G>A	ENSP00000274030:p.Glu788Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E788K	ENST00000274030.6	37	c.2362	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269020	0.59540	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.52526	0.66;0.66	5.76	5.76	0.90799	.	0.501216	0.21447	N	0.074400	T	0.56156	0.1966	M	0.61703	1.905	0.36516	D	0.86988	P	0.52463	0.953	P	0.47603	0.551	T	0.65693	-0.6106	10	0.72032	D	0.01	-24.7808	18.5232	0.90962	0.0:0.0:1.0:0.0	.	788	Q70EK8	UBP53_HUMAN	K	788	ENSP00000274030:E788K;ENSP00000409906:E788K	ENSP00000274030:E788K	E	+	1	0	USP53	120432954	0.999000	0.42202	0.119000	0.21687	0.225000	0.24961	4.259000	0.58828	2.880000	0.98712	0.650000	0.86243	GAA	USP53	-	NULL	ENSG00000145390		0.328	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	45	0.00	0	G	XM_052597		120213506	120213506	+1	no_errors	ENST00000274030	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	0.880	A
USP9X	8239	genome.wustl.edu	37	X	41007789	41007789	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chrX:41007789C>T	ENST00000324545.8	+	12	2220	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	USP9X_ENST00000378308.2_Silent_p.L529L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	529					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCTGGCTCTCAGTGCCCACA	0.438																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													193.0	171.0	179.0					X																	41007789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1587C>T	X.37:g.41007789C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L529	ENST00000324545.8	37	c.1587	CCDS43930.1	X																																																																																			USP9X	-	superfamily_ARM-type_fold	ENSG00000124486		0.438	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	122	0.00	0	C	NM_004652		41007789	41007789	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	silent	99	33.11	49	SNP	0.977	T
WHAMMP2	440253	genome.wustl.edu	37	15	28989968	28989968	+	RNA	SNP	G	G	T	rs200083792	byFrequency	TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr15:28989968G>T	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		GAATGGACCAGACGGGCTGGA	0.408																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28989968G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.408	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	30	0.00	0	G	NR_026589		28989968	28989968	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	28	20.00	7	SNP	0.204	T
WNT2B	7482	genome.wustl.edu	37	1	113057712	113057712	+	Silent	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:113057712C>T	ENST00000369684.4	+	2	884	c.399C>T	c.(397-399)ctC>ctT	p.L133L	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Silent_p.L114L|WNT2B_ENST00000256640.5_Silent_p.L41L|WNT2B_ENST00000478360.1_3'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	133					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGTCATGCTCAGAAGTAAGA	0.587																																						dbGAP											0													64.0	45.0	51.0					1																	113057712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.399C>T	1.37:g.113057712C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.L133	ENST00000369684.4	37	c.399	CCDS847.1	1																																																																																			WNT2B	-	pfam_Wnt,smart_Wnt	ENSG00000134245		0.587	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1	28	0.00	0	C	NM_004185		113057712	113057712	+1	no_errors	ENST00000369684	ensembl	human	known	69_37n	silent	21	44.74	17	SNP	1.000	T
WTIP	126374	genome.wustl.edu	37	19	34991146	34991146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:34991146C>A	ENST00000590071.2	+	8	1602	c.1265C>A	c.(1264-1266)tCa>tAa	p.S422*	WTIP_ENST00000270288.6_Nonsense_Mutation_p.S646*	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	422					cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CCTCTTCCCTCACCCACTGTG	0.697																																						dbGAP											0													36.0	42.0	40.0					19																	34991146		2033	4194	6227	-	-	-	SO:0001587	stop_gained	0			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1265C>A	19.37:g.34991146C>A	ENSP00000466953:p.Ser422*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S646*	ENST00000590071.2	37	c.1937	CCDS59375.1	19	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623965	0.66901	.	.	ENSG00000142279	ENST00000270288	.	.	.	4.19	1.89	0.25635	.	1.025950	0.07812	N	0.958365	.	.	.	.	.	.	0.44388	D	0.997297	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3004	0.32010	0.1485:0.579:0.2725:0.0	.	.	.	.	X	646	.	ENSP00000270288:S646X	S	+	2	0	WTIP	39682986	0.000000	0.05858	0.331000	0.25455	0.318000	0.28184	0.757000	0.26433	2.024000	0.59613	0.305000	0.20034	TCA	WTIP	-	NULL	ENSG00000142279		0.697	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTIP	HGNC	protein_coding	OTTHUMT00000459381.3	38	0.00	0	C	XM_059037		34991146	34991146	+1	no_errors	ENST00000270288	ensembl	human	known	69_37n	nonsense	42	34.38	22	SNP	0.008	A
XDH	7498	genome.wustl.edu	37	2	31621506	31621506	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr2:31621506C>T	ENST00000379416.3	-	5	414	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGTACATACTCATGACGATGC	0.547																																					Colon(66;682 1445 30109 40147)	dbGAP											0													135.0	132.0	133.0					2																	31621506		2203	4300	6503	-	-	-	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.366G>A	2.37:g.31621506C>T	ENSP00000368727:p.Met122Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.M122I	ENST00000379416.3	37	c.366	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668624	0.88348	.	.	ENSG00000158125	ENST00000379416	T	0.53640	0.61	6.16	6.16	0.99307	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.85542	2.76	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.76313	-0.3005	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	122	P47989	XDH_HUMAN	I	122	ENSP00000368727:M122I	ENSP00000368727:M122I	M	-	3	0	XDH	31475010	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	7.386000	0.79775	2.937000	0.99478	0.650000	0.86243	ATG	XDH	-	pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.547	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	45	0.00	0	C	NM_000379		31621506	31621506	-1	no_errors	ENST00000379416	ensembl	human	known	69_37n	missense	50	33.33	25	SNP	1.000	T
XIRP1	165904	genome.wustl.edu	37	3	39228389	39228389	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:39228389C>G	ENST00000340369.3	-	2	2776	c.2548G>C	c.(2548-2550)Gac>Cac	p.D850H	XIRP1_ENST00000396251.1_Missense_Mutation_p.D850H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	850					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGTTGGGTCTTCCTGCACC	0.597																																						dbGAP											0													34.0	33.0	34.0					3																	39228389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2548G>C	3.37:g.39228389C>G	ENSP00000343140:p.Asp850His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D850H	ENST00000340369.3	37	c.2548	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714317	0.48622	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06849	3.25;3.61	4.89	4.01	0.46588	.	0.385649	0.27245	U	0.020259	T	0.21022	0.0506	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.67382	0.781;0.951	T	0.00489	-1.1709	10	0.87932	D	0	.	7.7908	0.29119	0.0:0.8097:0.0:0.1903	.	850;850	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	850	ENSP00000379550:D850H;ENSP00000343140:D850H	ENSP00000343140:D850H	D	-	1	0	XIRP1	39203393	0.996000	0.38824	1.000000	0.80357	0.793000	0.44817	3.295000	0.51794	1.210000	0.43336	0.655000	0.94253	GAC	XIRP1	-	NULL	ENSG00000168334		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	18	0.00	0	C	XM_093522		39228389	39228389	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	missense	11	47.62	10	SNP	0.998	G
ZBTB43	23099	genome.wustl.edu	37	9	129595948	129595948	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr9:129595948G>C	ENST00000373464.4	+	3	1424	c.1160G>C	c.(1159-1161)aGa>aCa	p.R387T	ZBTB43_ENST00000449886.1_Missense_Mutation_p.R387T|ZBTB43_ENST00000373457.1_Missense_Mutation_p.R387T	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGAGTCAGAGAGATCGGCAC	0.488																																						dbGAP											0													84.0	78.0	80.0					9																	129595948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1160G>C	9.37:g.129595948G>C	ENSP00000362563:p.Arg387Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JU96	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R387T	ENST00000373464.4	37	c.1160	CCDS6867.1	9	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164700	0.57476	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.15017	2.46;2.46;2.46	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.01679	-1.1297	10	0.52906	T	0.07	.	20.0625	0.97681	0.0:0.0:1.0:0.0	.	387	O43298	ZBT43_HUMAN	T	387	ENSP00000390344:R387T;ENSP00000362563:R387T;ENSP00000362556:R387T	ENSP00000362556:R387T	R	+	2	0	ZBTB43	128635769	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.464000	0.73534	2.816000	0.96949	0.561000	0.74099	AGA	ZBTB43	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169155		0.488	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	29	0.00	0	G	NM_001135776		129595948	129595948	+1	no_errors	ENST00000373457	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	1.000	C
ZC3H11A	9877	genome.wustl.edu	37	1	203809473	203809473	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr1:203809473C>T	ENST00000545588.1	+	11	4840	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S338L|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S338L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S338L|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S338L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	338					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTAGGCATGTCAGCTGATCCA	0.343																																						dbGAP											0													119.0	120.0	120.0					1																	203809473		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1013C>T	1.37:g.203809473C>T	ENSP00000438527:p.Ser338Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.S338L	ENST00000545588.1	37	c.1013	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623939	0.46840	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.19	4.26	0.50523	.	0.468088	0.21494	N	0.073634	T	0.36717	0.0977	L	0.40543	1.245	0.27516	N	0.951557	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.59425	D	0.04	-1.5409	14.7318	0.69388	0.0:0.8537:0.1463:0.0	.	338	O75152	ZC11A_HUMAN	L	338;338;284;338;338;338;338	ENSP00000356183:S338L;ENSP00000356181:S338L;ENSP00000333253:S338L;ENSP00000438527:S338L;ENSP00000356179:S338L	ENSP00000333253:S338L	S	+	2	0	ZC3H11A	202076096	0.410000	0.25376	0.088000	0.20740	0.984000	0.73092	2.453000	0.44970	1.275000	0.44379	0.650000	0.86243	TCA	ZC3H11A	-	NULL	ENSG00000058673		0.343	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	75	0.00	0	C	NM_014827		203809473	203809473	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	missense	96	25.00	32	SNP	0.918	T
ZDHHC1	29800	genome.wustl.edu	37	16	67433355	67433355	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:67433355C>T	ENST00000348579.2	-	5	774	c.433G>A	c.(433-435)Gct>Act	p.A145T		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	145					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTGGAGCGAGCGCTCCTGCAG	0.667																																						dbGAP											0													42.0	33.0	36.0					16																	67433355		2198	4300	6498	-	-	-	SO:0001583	missense	0			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.433G>A	16.37:g.67433355C>T	ENSP00000340299:p.Ala145Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15461	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.A145T	ENST00000348579.2	37	c.433	CCDS10836.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544955	0.86022	.	.	ENSG00000159714	ENST00000348579	T	0.29397	1.57	5.27	3.13	0.36017	Zinc finger, DHHC-type, palmitoyltransferase (2);	.	.	.	.	T	0.26195	0.0639	L	0.56124	1.755	0.80722	D	1	P	0.49090	0.919	B	0.38655	0.278	T	0.09618	-1.0666	9	0.66056	D	0.02	.	9.4092	0.38480	0.1711:0.5929:0.2361:0.0	.	145	Q8WTX9	ZDHC1_HUMAN	T	145	ENSP00000340299:A145T	ENSP00000340299:A145T	A	-	1	0	ZDHHC1	65990856	0.996000	0.38824	0.978000	0.43139	0.906000	0.53458	2.350000	0.44063	1.205000	0.43262	0.655000	0.94253	GCT	ZDHHC1	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000159714		0.667	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	15	0.00	0	C	NM_013304		67433355	67433355	-1	no_errors	ENST00000348579	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	0.920	T
ZDHHC3	51304	genome.wustl.edu	37	3	44968333	44968333	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr3:44968333C>G	ENST00000424952.2	-	7	1016	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.E284Q|ZDHHC3_ENST00000296127.3_Missense_Mutation_p.E278Q	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	250					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TTCAATTGTTCTATTCCCTGA	0.458																																						dbGAP											0													110.0	101.0	104.0					3																	44968333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.748G>C	3.37:g.44968333C>G	ENSP00000395502:p.Glu250Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53A17|Q96BL0	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.E278Q	ENST00000424952.2	37	c.832	CCDS46811.1	3	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643209	0.87859	.	.	ENSG00000163812	ENST00000296127;ENST00000424952;ENST00000342790	T;T;T	0.37058	1.22;1.22;1.22	5.82	4.95	0.65309	.	0.091066	0.85682	D	0.000000	T	0.74809	0.3765	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.85163	0.0993	10	0.66056	D	0.02	.	14.8599	0.70372	0.0:0.9315:0.0:0.0685	.	250;278	Q9NYG2-2;Q9NYG2	.;ZDHC3_HUMAN	Q	278;250;284	ENSP00000296127:E278Q;ENSP00000395502:E250Q;ENSP00000345268:E284Q	ENSP00000296127:E278Q	E	-	1	0	ZDHHC3	44943337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.610000	0.82949	1.485000	0.48380	0.655000	0.94253	GAA	ZDHHC3	-	NULL	ENSG00000163812		0.458	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000347004.1	75	0.00	0	C	NM_016598		44968333	44968333	-1	no_errors	ENST00000296127	ensembl	human	known	69_37n	missense	79	32.20	38	SNP	1.000	G
ZFHX3	463	genome.wustl.edu	37	16	72992023	72992023	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr16:72992023G>A	ENST00000268489.5	-	2	2694	c.2022C>T	c.(2020-2022)ccC>ccT	p.P674P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	674					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTTGCACTTGGGGCACTTGA	0.597																																						dbGAP											0													45.0	48.0	47.0					16																	72992023		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2022C>T	16.37:g.72992023G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Silent	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.P674	ENST00000268489.5	37	c.2022	CCDS10908.1	16																																																																																			ZFHX3	-	smart_Znf_C2H2-like	ENSG00000140836		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	37	0.00	0	G	NM_006885		72992023	72992023	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77763444	77763444	+	Silent	SNP	C	C	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:77763444C>A	ENST00000521891.2	+	10	4735	c.4287C>A	c.(4285-4287)ctC>ctA	p.L1429L	ZFHX4_ENST00000455469.2_Silent_p.L1384L|ZFHX4_ENST00000518282.1_Silent_p.L1403L|ZFHX4_ENST00000050961.6_Silent_p.L1384L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1384					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)			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)			TGTGTAACCTCTGCCAGCGCA	0.458										HNSCC(33;0.089)																												dbGAP											0													47.0	44.0	45.0					8																	77763444		1935	4140	6075	-	-	-	SO:0001819	synonymous_variant	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.4287C>A	8.37:g.77763444C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Silent	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.L1429	ENST00000521891.2	37	c.4287	CCDS47878.2	8																																																																																			ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000091656		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	42	0.00	0	C	NM_024721		77763444	77763444	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.997	A
ZFHX4	79776	genome.wustl.edu	37	8	77763688	77763688	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr8:77763688G>C	ENST00000521891.2	+	10	4979	c.4531G>C	c.(4531-4533)Gat>Cat	p.D1511H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1466H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1485H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1466H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1466					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)			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)			CTCTATTCCAGATGACATGGG	0.458										HNSCC(33;0.089)																												dbGAP											0													55.0	53.0	53.0					8																	77763688		1946	4147	6093	-	-	-	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.4531G>C	8.37:g.77763688G>C	ENSP00000430497:p.Asp1511His	Somatic		WXS	Illumina GAIIx	Phase_IV	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.D1511H	ENST00000521891.2	37	c.4531	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733278	0.48939	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.73;0.7;0.69	5.05	5.05	0.67936	.	0.144148	0.31210	U	0.008055	T	0.58104	0.2099	L	0.43152	1.355	0.80722	D	1	D;D;D	0.56287	0.958;0.975;0.975	B;P;P	0.56960	0.445;0.81;0.647	T	0.60860	-0.7179	10	0.72032	D	0.01	.	18.5796	0.91166	0.0:0.0:1.0:0.0	.	1466;1466;1511	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1511;1511;1466;1466;1485	ENSP00000430497:D1511H;ENSP00000399605:D1466H;ENSP00000050961:D1466H;ENSP00000430848:D1485H	ENSP00000050961:D1466H	D	+	1	0	ZFHX4	77926243	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	9.657000	0.98554	2.629000	0.89072	0.555000	0.69702	GAT	ZFHX4	-	NULL	ENSG00000091656		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	23	0.00	0	G	NM_024721		77763688	77763688	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	31	35.42	17	SNP	1.000	C
ZKSCAN8	7745	genome.wustl.edu	37	6	28121504	28121504	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:28121504G>A	ENST00000330236.6	+	6	1630	c.1446G>A	c.(1444-1446)agG>agA	p.R482R	ZKSCAN8_ENST00000457389.2_Silent_p.R482R	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	482					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTCATCAGAGGAGCCACACTG	0.493																																						dbGAP											0													46.0	48.0	47.0					6																	28121504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1446G>A	6.37:g.28121504G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R482	ENST00000330236.6	37	c.1446	CCDS4645.1	6																																																																																			ZNF192	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198315		0.493	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	57	0.00	0	G			28121504	28121504	+1	no_errors	ENST00000330236	ensembl	human	known	69_37n	silent	27	42.55	20	SNP	0.194	A
ZKSCAN4	387032	genome.wustl.edu	37	6	28213380	28213380	+	Silent	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr6:28213380G>A	ENST00000377294.2	-	5	1395	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	ZKSCAN4_ENST00000423974.2_Silent_p.V229V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	384					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGACTGAAGACCTTACCAC	0.493																																						dbGAP											0													109.0	105.0	106.0					6																	28213380		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1152C>T	6.37:g.28213380G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE32|Q5U7L4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V384	ENST00000377294.2	37	c.1152	CCDS4647.1	6																																																																																			ZKSCAN4	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187626		0.493	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	93	0.00	0	G	NM_019110		28213380	28213380	-1	no_errors	ENST00000377294	ensembl	human	known	69_37n	silent	78	36.59	45	SNP	0.014	A
ZNF337	26152	genome.wustl.edu	37	20	25657112	25657112	+	Missense_Mutation	SNP	C	C	T	rs147339647	byFrequency	TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr20:25657112C>T	ENST00000376436.1	-	4	1351	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R239Q|ZNF337_ENST00000252979.5_Missense_Mutation_p.R271Q|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R271Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTATAGCCTCGTCCACACAC	0.522													C|||	11	0.00219649	0.0	0.0	5008	,	,		21920	0.0109		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	stomach(1)											166.0	152.0	157.0					20																	25657112		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.812G>A	20.37:g.25657112C>T	ENSP00000365619:p.Arg271Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R271Q	ENST00000376436.1	37	c.812	CCDS13174.1	20	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	.	19.42	3.823544	0.71143	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18960	2.18;2.18;2.18	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.25060	0.705	0.09310	N	0.999999	B;B	0.29037	0.231;0.231	B;B	0.15052	0.012;0.012	T	0.21895	-1.0232	9	0.52906	T	0.07	.	3.4781	0.07591	0.0:0.7361:0.0:0.2639	.	239;271	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Q	271;271;271;239	ENSP00000365619:R271Q;ENSP00000252979:R271Q;ENSP00000442181:R239Q	ENSP00000252979:R271Q	R	-	2	0	ZNF337	25605112	0.104000	0.21937	0.007000	0.13788	0.807000	0.45602	2.865000	0.48412	0.935000	0.37341	0.306000	0.20318	CGA	ZNF337	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130684		0.522	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	113	0.00	0	C			25657112	25657112	-1	no_errors	ENST00000252979	ensembl	human	known	69_37n	missense	79	38.28	49	SNP	0.405	T
ZNF366	167465	genome.wustl.edu	37	5	71756940	71756940	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr5:71756940C>T	ENST00000318442.5	-	2	874	c.384G>A	c.(382-384)atG>atA	p.M128I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	128					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACAGGTCGATCATCTGAGAGT	0.602																																						dbGAP											0													141.0	159.0	153.0					5																	71756940		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.384G>A	5.37:g.71756940C>T	ENSP00000313158:p.Met128Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M128I	ENST00000318442.5	37	c.384	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470554	0.84533	.	.	ENSG00000178175	ENST00000318442	T	0.47177	0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.34521	1.04	0.58432	D	0.999997	P	0.49090	0.919	B	0.42692	0.395	T	0.23691	-1.0181	10	0.46703	T	0.11	-47.8657	13.5098	0.61504	0.0:0.929:0.0:0.071	.	128	Q8N895	ZN366_HUMAN	I	128	ENSP00000313158:M128I	ENSP00000313158:M128I	M	-	3	0	ZNF366	71792696	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.044000	0.71012	2.813000	0.96785	0.561000	0.74099	ATG	ZNF366	-	NULL	ENSG00000178175		0.602	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	103	0.00	0	C			71756940	71756940	-1	no_errors	ENST00000318442	ensembl	human	known	69_37n	missense	66	38.89	42	SNP	1.000	T
ZNF488	118738	genome.wustl.edu	37	10	48371219	48371219	+	Silent	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr10:48371219C>G	ENST00000395702.2	+	2	914	c.687C>G	c.(685-687)ctC>ctG	p.L229L	ZNF488_ENST00000586537.1_Silent_p.L122L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	229					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ATGCTCCACTCTGTAGCACTT	0.557																																						dbGAP											0													113.0	108.0	109.0					10																	48371219		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.687C>G	10.37:g.48371219C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05CE0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L229	ENST00000395702.2	37	c.687	CCDS7217.1	10																																																																																			ZNF488	-	NULL	ENSG00000165388		0.557	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	HGNC	protein_coding	OTTHUMT00000314632.1	48	0.00	0	C	NM_153034		48371219	48371219	+1	no_errors	ENST00000395702	ensembl	human	known	69_37n	silent	45	35.71	25	SNP	0.005	G
ZNF532	55205	genome.wustl.edu	37	18	56606717	56606717	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr18:56606717C>G	ENST00000336078.4	+	6	3345	c.2569C>G	c.(2569-2571)Ctg>Gtg	p.L857V	ZNF532_ENST00000591083.1_Missense_Mutation_p.L857V|ZNF532_ENST00000591230.1_Missense_Mutation_p.L857V|ZNF532_ENST00000589288.1_Missense_Mutation_p.L857V|ZNF532_ENST00000591808.1_Missense_Mutation_p.L857V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGTGGCTGCTCTGAAGTCTCA	0.438																																						dbGAP											0													196.0	169.0	178.0					18																	56606717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2569C>G	18.37:g.56606717C>G	ENSP00000338217:p.Leu857Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L857V	ENST00000336078.4	37	c.2569	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	c	17.43	3.388877	0.61956	.	.	ENSG00000074657	ENST00000336078	T	0.40476	1.03	5.65	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.147023	0.45606	D	0.000350	T	0.42223	0.1193	M	0.79693	2.465	0.37116	D	0.900608	B	0.33857	0.429	B	0.24006	0.05	T	0.55425	-0.8143	10	0.87932	D	0	-16.7411	10.541	0.45033	0.0:0.8514:0.0:0.1486	.	857	Q9HCE3	ZN532_HUMAN	V	857	ENSP00000338217:L857V	ENSP00000338217:L857V	L	+	1	2	ZNF532	54757697	0.952000	0.32445	0.986000	0.45419	0.997000	0.91878	2.150000	0.42254	1.408000	0.46895	0.645000	0.84053	CTG	ZNF532	-	smart_Znf_C2H2-like	ENSG00000074657		0.438	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	118	0.00	0	C	NM_018181		56606717	56606717	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	missense	125	30.17	54	SNP	0.949	G
ZNF681	148213	genome.wustl.edu	37	19	23928027	23928027	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:23928027C>T	ENST00000402377.3	-	4	466	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E40K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTAAATTCTCATGTTCACAT	0.348																																						dbGAP											0													49.0	47.0	48.0					19																	23928027		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.325G>A	19.37:g.23928027C>T	ENSP00000384000:p.Glu109Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E109K	ENST00000402377.3	37	c.325	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	5.380	0.255389	0.10185	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.08720	3.28;3.06;6.06;6.42	1.19	1.19	0.21007	.	.	.	.	.	T	0.09774	0.0240	M	0.76838	2.35	0.09310	N	0.999995	B	0.24317	0.101	B	0.18871	0.023	T	0.44421	-0.9329	9	0.10111	T	0.7	.	7.5007	0.27516	0.0:1.0:0.0:0.0	.	109	Q96N22	ZN681_HUMAN	K	109;40;40;40	ENSP00000384000:E109K;ENSP00000378783:E40K;ENSP00000433806:E40K;ENSP00000435824:E40K	ENSP00000378783:E40K	E	-	1	0	ZNF681	23719867	0.036000	0.19791	0.052000	0.19188	0.050000	0.14768	0.491000	0.22419	0.300000	0.22699	0.306000	0.20318	GAG	ZNF681	-	NULL	ENSG00000196172		0.348	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	83	0.00	0	C	NM_138286		23928027	23928027	-1	no_errors	ENST00000402377	ensembl	human	known	69_37n	missense	78	25.71	27	SNP	0.435	T
ZNF702P	79986	genome.wustl.edu	37	19	53472294	53472294	+	RNA	SNP	G	G	A			TCGA-AR-A2LE-01A-11D-A17W-09	TCGA-AR-A2LE-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2684cf0d-9cc7-45f3-86bd-96f9bb17d749	f7ffd8c1-3b0b-477c-97c5-467710171bbf	g.chr19:53472294G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GTCTAGTATGGATTCTCTGAT	0.383																																						dbGAP											0																																										-	-	-			0																															19.37:g.53472294G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-	ENSG00000242779		0.383	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	25	0.00	0	G			53472294	53472294	-1	no_errors	ENST00000270443	ensembl	human	known	69_37n	rna	7	46.15	6	SNP	0.002	A
