#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
ADAMTSL1	92949	genome.wustl.edu	37	9	18908545	18908545	+	Silent	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr9:18908545G>A	ENST00000380548.4	+	29	5627	c.5288G>A	c.(5287-5289)tGa>tAa	p.*1763*	ADAMTSL1_ENST00000380545.5_Silent_p.*464*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	0						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)		GGCAAAGCGTGAAGATAGGGT	0.478																																						dbGAP											0													64.0	66.0	66.0					9																	18908545		1984	4132	6116	-	-	-	SO:0001819	synonymous_variant	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.5288G>A	9.37:g.18908545G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.*464	ENST00000380548.4	37	c.1391	CCDS47954.1	9																																																																																			ADAMTSL1	-	NULL	ENSG00000178031		0.478	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	55	0.00	0	G			18908545	18908545	+1	no_errors	ENST00000380545	ensembl	human	putative	69_37n	silent	97	22.40	28	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109863350	109863350	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr6:109863350C>T	ENST00000424296.2	-	27	3326	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	AK9_ENST00000355283.1_Missense_Mutation_p.E163K|AK9_ENST00000341338.6_Missense_Mutation_p.E163K	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1084	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ACTTCTTCTTCTTCTGTAAGT	0.338																																						dbGAP											0													82.0	75.0	78.0					6																	109863350		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3250G>A	6.37:g.109863350C>T	ENSP00000410186:p.Glu1084Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E1084K	ENST00000424296.2	37	c.3250	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516687	0.64634	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.41758	0.99;0.99;0.99	5.52	4.63	0.57726	ATPase, AAA+ type, core (1);	0.051287	0.85682	D	0.000000	T	0.45637	0.1352	L	0.42245	1.32	0.35798	D	0.822885	D;D	0.89917	0.975;1.0	P;D	0.83275	0.741;0.996	T	0.46830	-0.9163	9	.	.	.	.	15.8391	0.78831	0.137:0.863:0.0:0.0	.	163;1084	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	K	1084;163;163	ENSP00000410186:E1084K;ENSP00000347431:E163K;ENSP00000344637:E163K	.	E	-	1	0	AKD1	109970043	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	4.776000	0.62354	1.422000	0.47177	0.650000	0.86243	GAA	AKD1	-	smart_AAA+_ATPase	ENSG00000155085		0.338	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		89	0.00	0	C	NM_001145128		109863350	109863350	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	197	19.26	47	SNP	1.000	T
ANKHD1	54882	genome.wustl.edu	37	5	139884447	139884447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr5:139884447C>T	ENST00000360839.2	+	16	3200	c.3046C>T	c.(3046-3048)Cag>Tag	p.Q1016*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q1016*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q1016*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1016						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTTCTCAGACCACAGA	0.423																																						dbGAP											0													146.0	133.0	137.0					5																	139884447		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3046C>T	5.37:g.139884447C>T	ENSP00000354085:p.Gln1016*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q1016*	ENST00000360839.2	37	c.3046	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	43	10.097740	0.99336	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.	.	.	5.22	5.22	0.72569	.	0.232067	0.37136	N	0.002237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.7978	0.92003	0.0:1.0:0.0:0.0	.	.	.	.	X	1016;1049;1016;1016;550;227;1035;169;1016	.	ENSP00000432016:Q1016X	Q	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139864631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.443000	0.82685	0.650000	0.86243	CAG	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	54	0.00	0	C	NM_017747		139884447	139884447	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	nonsense	92	11.32	12	SNP	1.000	T
ATP2A1	487	genome.wustl.edu	37	16	28909594	28909594	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr16:28909594G>A	ENST00000357084.3	+	14	1853	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R404Q|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R529Q	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	529					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AACTATGTGCGAGTTGGCACC	0.617																																						dbGAP											0													76.0	82.0	80.0					16																	28909594		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1586G>A	16.37:g.28909594G>A	ENSP00000349595:p.Arg529Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R529Q	ENST00000357084.3	37	c.1586	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350707	0.82132	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82526	-1.62;-1.62;-1.62	5.46	5.46	0.80206	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	L	0.47716	1.5	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.981;0.976	D	0.83946	0.0314	10	0.18276	T	0.48	.	18.0542	0.89358	0.0:0.0:1.0:0.0	.	404;529;529	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	529;529;566;404	ENSP00000349595:R529Q;ENSP00000378879:R529Q;ENSP00000443101:R404Q	ENSP00000349595:R529Q	R	+	2	0	ATP2A1	28817095	1.000000	0.71417	0.976000	0.42696	0.728000	0.41692	9.791000	0.99081	2.554000	0.86153	0.655000	0.94253	CGA	ATP2A1	-	superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.617	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	40	0.00	0	G	NM_004320		28909594	28909594	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	1.000	A
ERICH3	127254	genome.wustl.edu	37	1	75038972	75038972	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr1:75038972G>A	ENST00000326665.5	-	14	2640	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		808	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCCTCAAGGGAGCCTCATGA	0.552																																						dbGAP											0													95.0	92.0	93.0					1																	75038972		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000326665.5:c.2422C>T	1.37:g.75038972G>A	ENSP00000322609:p.Pro808Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.P808S	ENST00000326665.5	37	c.2422	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731367	0.48939	.	.	ENSG00000178965	ENST00000326665	T	0.15718	2.4	5.54	3.67	0.42095	.	.	.	.	.	T	0.03263	0.0095	L	0.36672	1.1	0.09310	N	1	P	0.42518	0.782	B	0.34652	0.187	T	0.34354	-0.9832	9	0.30078	T	0.28	1.0261	2.744	0.05262	0.1608:0.1432:0.5485:0.1475	.	808	Q5RHP9	CA173_HUMAN	S	808	ENSP00000322609:P808S	ENSP00000322609:P808S	P	-	1	0	C1orf173	74811560	0.020000	0.18652	0.003000	0.11579	0.019000	0.09904	1.988000	0.40697	0.709000	0.31976	0.561000	0.74099	CCC	C1orf173	-	NULL	ENSG00000178965		0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	63	0.00	0	G			75038972	75038972	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	135	20.59	35	SNP	0.001	A
C7orf26	79034	genome.wustl.edu	37	7	6639592	6639592	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr7:6639592C>T	ENST00000344417.5	+	4	980	c.713C>T	c.(712-714)aCc>aTc	p.T238I	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	238										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TTAGAGCTCACCCCGCTCGTT	0.478																																						dbGAP											0													80.0	78.0	79.0					7																	6639592		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.713C>T	7.37:g.6639592C>T	ENSP00000340220:p.Thr238Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ43	Missense_Mutation	SNP	NULL	p.T238I	ENST00000344417.5	37	c.713	CCDS5353.1	7	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751402	0.89753	.	.	ENSG00000146576	ENST00000344417	T	0.53640	0.61	5.08	5.08	0.68730	.	0.043393	0.85682	D	0.000000	T	0.66607	0.2806	M	0.75615	2.305	0.80722	D	1	D	0.61080	0.989	P	0.61722	0.893	T	0.70292	-0.4912	10	0.87932	D	0	-39.0511	16.7774	0.85555	0.0:1.0:0.0:0.0	.	238	Q96N11	CG026_HUMAN	I	238	ENSP00000340220:T238I	ENSP00000340220:T238I	T	+	2	0	C7orf26	6606117	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	7.540000	0.82074	2.752000	0.94435	0.555000	0.69702	ACC	C7orf26	-	NULL	ENSG00000146576		0.478	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	41	0.00	0	C	NM_024067		6639592	6639592	+1	no_errors	ENST00000344417	ensembl	human	known	69_37n	missense	124	21.52	34	SNP	1.000	T
CDC73	79577	genome.wustl.edu	37	1	193121549	193121549	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr1:193121549A>T	ENST00000367435.3	+	10	1131	c.947A>T	c.(946-948)cAt>cTt	p.H316L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	316	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						GGAACCTACCATGGTATGACA	0.338																																						dbGAP											0													144.0	126.0	132.0					1																	193121549		2203	4300	6503	-	-	-	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.947A>T	1.37:g.193121549A>T	ENSP00000356405:p.His316Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.H316L	ENST00000367435.3	37	c.947	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219818	0.79464	.	.	ENSG00000134371	ENST00000367435	T	0.63744	-0.06	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.70360	-0.4893	10	0.30854	T	0.27	-18.5781	14.1678	0.65488	1.0:0.0:0.0:0.0	.	316	Q6P1J9	CDC73_HUMAN	L	316	ENSP00000356405:H316L	ENSP00000356405:H316L	H	+	2	0	CDC73	191388172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.526000	0.90588	1.988000	0.58038	0.477000	0.44152	CAT	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	62	0.00	0	A	NM_024529		193121549	193121549	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	171	15.35	31	SNP	1.000	T
CDC42BPA	8476	genome.wustl.edu	37	1	227300567	227300567	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr1:227300567C>T	ENST00000366769.3	-	13	2986	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L	CDC42BPA_ENST00000366765.3_Silent_p.L565L|CDC42BPA_ENST00000366764.2_Silent_p.L565L|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366766.2_Silent_p.L565L|CDC42BPA_ENST00000334218.5_Silent_p.L565L|CDC42BPA_ENST00000535525.1_Silent_p.L565L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTGCGTCTTTCAGCTCTTTGG	0.428																																						dbGAP											0													170.0	168.0	168.0					1																	227300567		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1695G>A	1.37:g.227300567C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_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,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L565	ENST00000366769.3	37	c.1695	CCDS1558.1	1																																																																																			CDC42BPA	-	NULL	ENSG00000143776		0.428	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	94	0.00	0	C	NM_014826		227300567	227300567	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	silent	387	14.76	67	SNP	1.000	T
CDH1	999	genome.wustl.edu	37	16	68835780	68835781	+	Frame_Shift_Ins	INS	-	-	C	rs115418995		TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr16:68835780_68835781insC	ENST00000261769.5	+	3	562_563	c.371_372insC	c.(370-375)cgccccfs	p.RP124fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.RP124fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	124					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.P126fs*89(1)|p.P127fs*41(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)		CACCACCACCGCCCCCCGCCCC	0.5			"""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	4	Unknown(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	breast(4)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.377dupC	16.37:g.68835786_68835786dupC	ENSP00000261769:p.Arg124fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P127fs	ENST00000261769.5	37	c.371_372	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.500	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	25	0.00	0	-	NM_004360		68835780	68835781	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	53	31.17	24	INS	0.005:0.015	C
CNTRL	11064	genome.wustl.edu	37	9	123880638	123880638	+	Silent	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr9:123880638G>A	ENST00000373855.1	+	12	1730	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	CNTRL_ENST00000373850.1_5'Flank|CNTRL_ENST00000238341.5_Silent_p.G490G|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	490					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAGAAGCAGGGAAAGACCTTC	0.348																																						dbGAP											0													100.0	108.0	105.0					9																	123880638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1470G>A	9.37:g.123880638G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.G490	ENST00000373855.1	37	c.1470	CCDS35118.1	9																																																																																			CNTRL	-	NULL	ENSG00000119397		0.348	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	35	0.00	0	G	NM_007018		123880638	123880638	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	silent	79	17.71	17	SNP	1.000	A
EPHB1	2047	genome.wustl.edu	37	3	134911580	134911580	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr3:134911580G>A	ENST00000398015.3	+	11	2415	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	EPHB1_ENST00000493838.1_Missense_Mutation_p.R243H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACATCATTCGCCTGGAGGGT	0.537																																						dbGAP											0													102.0	102.0	102.0					3																	134911580		2200	4299	6499	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2045G>A	3.37:g.134911580G>A	ENSP00000381097:p.Arg682His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R682H	ENST00000398015.3	37	c.2045	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610758	0.28712	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.64803	-0.12;-0.12	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000003	T	0.78400	0.4277	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73369	-0.4004	10	0.12103	T	0.63	.	19.2763	0.94032	0.0:0.0:1.0:0.0	.	682	P54762	EPHB1_HUMAN	H	682;243	ENSP00000381097:R682H;ENSP00000419574:R243H	ENSP00000381097:R682H	R	+	2	0	EPHB1	136394270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.946000	0.87746	2.567000	0.86603	0.561000	0.74099	CGC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000154928		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	104	0.00	0	G	NM_004441		134911580	134911580	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	119	23.72	37	SNP	1.000	A
FAM171A1	221061	genome.wustl.edu	37	10	15255350	15255351	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr10:15255350_15255351insT	ENST00000378116.4	-	8	2242_2243	c.2236_2237insA	c.(2236-2238)atgfs	p.M746fs	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	746						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGTTCATTCATATCTACGCCA	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2237dupA	10.37:g.15255351_15255351dupT	ENSP00000367356:p.Met746fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Ins	INS	pfam_Uncharacterised_FAM171	p.M746fs	ENST00000378116.4	37	c.2237_2236	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.520	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	25	0.00	0	-	XM_167709		15255350	15255351	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	frame_shift_ins	70	22.22	20	INS	1.000:1.000	T
FBXL14	144699	genome.wustl.edu	37	12	1702885	1702885	+	Silent	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr12:1702885G>A	ENST00000339235.3	-	1	446	c.348C>T	c.(346-348)atC>atT	p.I116I	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	116					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GCAGGGAGCCGATCTCCTGCA	0.632																																						dbGAP											0													53.0	56.0	55.0					12																	1702885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.348C>T	12.37:g.1702885G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.I116	ENST00000339235.3	37	c.348	CCDS8509.1	12																																																																																			FBXL14	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000171823		0.632	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	36	0.00	0	G	NM_152441		1702885	1702885	-1	no_errors	ENST00000339235	ensembl	human	known	69_37n	silent	25	26.47	9	SNP	1.000	A
FBXL2	25827	genome.wustl.edu	37	3	33416839	33416839	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr3:33416839C>T	ENST00000484457.1	+	10	808	c.717C>T	c.(715-717)ctC>ctT	p.L239L	FBXL2_ENST00000507198.1_Silent_p.L171L|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Silent_p.L155L|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Silent_p.L171L	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TACAGGCTCTCTGCCTTTCGG	0.532																																						dbGAP											0													116.0	113.0	114.0					3																	33416839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.717C>T	3.37:g.33416839C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.L239	ENST00000484457.1	37	c.717	CCDS2658.1	3																																																																																			FBXL2	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000153558		0.532	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL2	HGNC	protein_coding	OTTHUMT00000253245.2	67	0.00	0	C	NM_012157		33416839	33416839	+1	no_errors	ENST00000484457	ensembl	human	known	69_37n	silent	143	19.66	35	SNP	0.999	T
FOXJ2	55810	genome.wustl.edu	37	12	8197502	8197502	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr12:8197502C>T	ENST00000162391.3	+	6	1910	c.765C>T	c.(763-765)ttC>ttT	p.F255F	FOXJ2_ENST00000428177.2_Silent_p.F255F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	255					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCTGGTCCTTCCGCAACCTCT	0.498																																						dbGAP											0													182.0	174.0	177.0					12																	8197502		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.765C>T	12.37:g.8197502C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F255	ENST00000162391.3	37	c.765	CCDS8587.1	12																																																																																			FOXJ2	-	NULL	ENSG00000065970		0.498	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	76	0.00	0	C	NM_018416		8197502	8197502	+1	no_errors	ENST00000162391	ensembl	human	known	69_37n	silent	149	14.86	26	SNP	1.000	T
FZD5	7855	genome.wustl.edu	37	2	208633332	208633332	+	Silent	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr2:208633332G>A	ENST00000295417.3	-	2	685	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	44	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGTTGTAGCCGATGCCGCGGC	0.672																																						dbGAP											0													65.0	52.0	56.0					2																	208633332		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.132C>T	2.37:g.208633332G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2X1|B2RCZ1|Q53R22	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.I44	ENST00000295417.3	37	c.132	CCDS33366.1	2																																																																																			FZD5	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000163251		0.672	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	64	0.00	0	G	NM_003468		208633332	208633332	-1	no_errors	ENST00000295417	ensembl	human	known	69_37n	silent	55	14.06	9	SNP	1.000	A
GMEB1	10691	genome.wustl.edu	37	1	29041281	29041281	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr1:29041281A>T	ENST00000294409.2	+	10	1808	c.1718A>T	c.(1717-1719)gAt>gTt	p.D573V	GMEB1_ENST00000373816.1_Missense_Mutation_p.D563V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.D563V	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	573					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTAGAGGATTAACTGGGG	0.413																																						dbGAP											0													57.0	59.0	58.0					1																	29041281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1718A>T	1.37:g.29041281A>T	ENSP00000294409:p.Asp573Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.D573V	ENST00000294409.2	37	c.1718	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593123	0.66219	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.63096	-0.01;-0.01;-0.02	5.64	5.64	0.86602	.	0.052308	0.64402	D	0.000001	T	0.67239	0.2872	N	0.19112	0.55	0.47065	D	0.9993	D;D	0.71674	0.998;0.994	D;D	0.76071	0.987;0.987	T	0.72434	-0.4295	10	0.87932	D	0	-22.7023	14.8431	0.70240	1.0:0.0:0.0:0.0	.	573;563	Q9Y692;B1AT47	GMEB1_HUMAN;.	V	563;563;573	ENSP00000362922:D563V;ENSP00000355186:D563V;ENSP00000294409:D573V	ENSP00000294409:D573V	D	+	2	0	GMEB1	28913868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.226000	0.65299	2.148000	0.66965	0.533000	0.62120	GAT	GMEB1	-	NULL	ENSG00000162419		0.413	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	20	0.00	0	A	NM_006582		29041281	29041281	+1	no_errors	ENST00000294409	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31763188	31763188	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr14:31763188C>T	ENST00000389961.3	-	34	5723	c.5724G>A	c.(5722-5724)aaG>aaA	p.K1908K	HEATR5A_ENST00000439727.1_Silent_p.K1621K|HEATR5A_ENST00000439348.1_Silent_p.K1833K|HEATR5A_ENST00000543095.2_Silent_p.K1914K|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1908										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAGGTTTTCTCTTGTCTATTT	0.403																																						dbGAP											0													143.0	122.0	129.0					14																	31763188		1864	4113	5977	-	-	-	SO:0001819	synonymous_variant	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5724G>A	14.37:g.31763188C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1467K	ENST00000389961.3	37	c.4400		14	.	.	.	.	.	.	.	.	.	.	C	3.191	-0.165710	0.06461	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.22	0.757	0.18427	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	.	4.314	0.10984	0.0:0.2737:0.1882:0.5381	.	.	.	.	K	1467	.	.	R	-	2	0	HEATR5A	30832939	0.917000	0.31117	0.363000	0.25875	0.623000	0.37688	0.403000	0.20982	0.232000	0.21100	0.555000	0.69702	AGA	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		137	0.00	0	C	NM_015473		31763188	31763188	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538864	ensembl	human	novel	69_37n	missense	323	17.60	69	SNP	0.018	T
HIPK2	28996	genome.wustl.edu	37	7	139416554	139416554	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr7:139416554C>T	ENST00000406875.3	-	2	374	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	HIPK2_ENST00000428878.2_Missense_Mutation_p.V94M|HIPK2_ENST00000342645.6_Missense_Mutation_p.V94M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	94					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAGGTGACCACGATGTGCCCG	0.597																																						dbGAP											0													119.0	105.0	109.0					7																	139416554		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.280G>A	7.37:g.139416554C>T	ENSP00000385571:p.Val94Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V94M	ENST00000406875.3	37	c.280		7	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606309	0.66445	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.54279	0.58;0.64;0.6	5.28	4.37	0.52481	.	.	.	.	.	T	0.72342	0.3448	.	.	.	0.46279	D	0.998962	D;D	0.89917	1.0;0.986	D;P	0.80764	0.994;0.73	T	0.75007	-0.3469	8	0.48119	T	0.1	.	15.6028	0.76639	0.0:0.8618:0.1382:0.0	.	94;94	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	M	94	ENSP00000385571:V94M;ENSP00000413724:V94M;ENSP00000343108:V94M	ENSP00000343108:V94M	V	-	1	0	HIPK2	139063040	1.000000	0.71417	0.275000	0.24674	0.875000	0.50365	6.067000	0.71193	1.161000	0.42604	0.563000	0.77884	GTG	HIPK2	-	NULL	ENSG00000064393		0.597	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	148	0.00	0	C	NM_022740		139416554	139416554	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	185	20.60	48	SNP	0.995	T
HK2	3099	genome.wustl.edu	37	2	75107455	75107455	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr2:75107455C>T	ENST00000290573.2	+	10	1929	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	HK2_ENST00000409174.1_Silent_p.L415L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	443	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.L443L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TCCGCTTCCTCCGCTCCGAGG	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											117.0	131.0	126.0					2																	75107455		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1329C>T	2.37:g.75107455C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5J2|Q8WU87|Q9UN82	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L443	ENST00000290573.2	37	c.1329	CCDS1956.1	2																																																																																			HK2	-	pfam_Hexokinase_C	ENSG00000159399		0.617	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	41	0.00	0	C	NM_000189		75107455	75107455	+1	no_errors	ENST00000290573	ensembl	human	known	69_37n	silent	26	35.00	14	SNP	1.000	T
IFFO2	126917	genome.wustl.edu	37	1	19246221	19246221	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr1:19246221A>G	ENST00000455833.2	-	3	1126	c.773T>C	c.(772-774)aTc>aCc	p.I258T	RP13-279N23.2_ENST00000494072.3_Silent_p.D36D	NM_001136265.1	NP_001129737.1	Q5TF58	IFFO2_HUMAN	intermediate filament family orphan 2	258						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)	2						GAGCCGCTCGATCTTCTCATT	0.632																																						dbGAP											0													168.0	145.0	152.0					1																	19246221		692	1591	2283	-	-	-	SO:0001583	missense	0			AK024480, AL080251	CCDS44076.1	1p36.13	2013-10-11			ENSG00000169991	ENSG00000169991		"""Intermediate filament family orphans"""	27006	protein-coding gene	gene with protein product						14702039	Standard	NM_001136265		Approved		uc001bbd.2	Q5TF58	OTTHUMG00000002499	ENST00000455833.2:c.773T>C	1.37:g.19246221A>G	ENSP00000387941:p.Ile258Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7K0	Missense_Mutation	SNP	pfam_F	p.I258T	ENST00000455833.2	37	c.773	CCDS44076.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.530336|4.530336	0.85706|0.85706	.|.	.|.	ENSG00000169991|ENSG00000169991	ENST00000304963;ENST00000455833|ENST00000416166	D|.	0.85702|.	-2.02|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.054723|.	0.64402|.	D|.	0.000001|.	T|T	0.57666|0.57666	0.2069|0.2069	L|L	0.36672|0.36672	1.1|1.1	0.49915|0.49915	D|D	0.999832|0.999832	P|.	0.44734|.	0.842|.	B|.	0.33750|.	0.169|.	T|T	0.54463|0.54463	-0.8290|-0.8290	10|5	0.72032|.	D|.	0.01|.	-0.505|-0.505	14.7153|14.7153	0.69262|0.69262	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	258|.	Q5TF58|.	IFFO2_HUMAN|.	T|P	249;258|47	ENSP00000387941:I258T|.	ENSP00000305144:I249T|.	I|S	-|-	2|1	0|0	IFFO2|IFFO2	19118808|19118808	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.978000|0.978000	0.69477|0.69477	8.962000|8.962000	0.93254|0.93254	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATC|TCG	IFFO2	-	NULL	ENSG00000169991		0.632	IFFO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFFO2	HGNC	protein_coding	OTTHUMT00000007099.2	107	0.00	0	A	NM_001136265		19246221	19246221	-1	no_errors	ENST00000455833	ensembl	human	known	69_37n	missense	123	13.99	20	SNP	1.000	G
KIAA0232	9778	genome.wustl.edu	37	4	6865788	6865788	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr4:6865788G>A	ENST00000307659.5	+	7	4134	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1227K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1227							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAAAGCTCAGAAGCAAATTG	0.368																																						dbGAP											0													66.0	62.0	63.0					4																	6865788		1823	4076	5899	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3679G>A	4.37:g.6865788G>A	ENSP00000303928:p.Glu1227Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.E1227K	ENST00000307659.5	37	c.3679	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727403	0.48833	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	4.58	0.56647	.	0.501600	0.20969	N	0.082438	T	0.16385	0.0394	N	0.04508	-0.205	0.25700	N	0.985597	B	0.02656	0.0	B	0.06405	0.002	T	0.17868	-1.0355	9	0.19590	T	0.45	-32.1537	9.4452	0.38693	0.2236:0.0:0.7764:0.0	.	1227	Q92628	K0232_HUMAN	K	1227	.	ENSP00000303928:E1227K	E	+	1	0	KIAA0232	6916689	0.881000	0.30235	1.000000	0.80357	0.999000	0.98932	1.036000	0.30228	1.398000	0.46701	0.655000	0.94253	GAA	KIAA0232	-	NULL	ENSG00000170871		0.368	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	26	0.00	0	G	NM_014743		6865788	6865788	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	92	19.30	22	SNP	0.999	A
MEA1	4201	genome.wustl.edu	37	6	42980990	42980990	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr6:42980990C>T	ENST00000244711.3	-	2	320	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	56					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCTGCTCTTCCTCAGGCTCC	0.602																																						dbGAP											0													108.0	111.0	110.0					6																	42980990		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.166G>A	6.37:g.42980990C>T	ENSP00000244711:p.Glu56Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TC36|Q9BV01	Missense_Mutation	SNP	pfam_MEA1	p.E56K	ENST00000244711.3	37	c.166	CCDS4879.1	6	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674171	0.88445	.	.	ENSG00000124733	ENST00000244711	T	0.54866	0.55	6.07	6.07	0.98685	.	0.107295	0.64402	D	0.000009	T	0.53126	0.1777	L	0.27053	0.805	0.58432	D	0.999999	D	0.56968	0.978	P	0.60236	0.871	T	0.55585	-0.8118	10	0.66056	D	0.02	-12.3282	20.2629	0.98456	0.0:1.0:0.0:0.0	.	56	Q16626	MEA1_HUMAN	K	56	ENSP00000244711:E56K	ENSP00000244711:E56K	E	-	1	0	MEA1	43088968	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.022000	0.70839	2.890000	0.99128	0.585000	0.79938	GAA	MEA1	-	pfam_MEA1	ENSG00000124733		0.602	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEA1	HGNC	protein_coding	OTTHUMT00000040574.2	63	0.00	0	C			42980990	42980990	-1	no_errors	ENST00000244711	ensembl	human	known	69_37n	missense	101	15.13	18	SNP	1.000	T
MORC4	79710	genome.wustl.edu	37	X	106228454	106228454	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chrX:106228454C>T	ENST00000355610.4	-	5	820	c.546G>A	c.(544-546)gaG>gaA	p.E182E	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Silent_p.E182E	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	182						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GCAATGAATCCTCGGTAATAA	0.378																																						dbGAP											0													96.0	94.0	95.0					X																	106228454		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.546G>A	X.37:g.106228454C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.E182	ENST00000355610.4	37	c.546	CCDS14525.2	X																																																																																			MORC4	-	superfamily_ATPase-like_ATP-bd	ENSG00000133131		0.378	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	44	0.00	0	C	NM_024657		106228454	106228454	-1	no_errors	ENST00000355610	ensembl	human	known	69_37n	silent	88	24.79	29	SNP	1.000	T
NEK1	4750	genome.wustl.edu	37	4	170400599	170400599	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr4:170400599C>T	ENST00000439128.2	-	22	2650	c.2010G>A	c.(2008-2010)atG>atA	p.M670I	NEK1_ENST00000511633.1_Missense_Mutation_p.M654I|NEK1_ENST00000512193.1_Missense_Mutation_p.M601I|NEK1_ENST00000510533.1_Missense_Mutation_p.M626I|NEK1_ENST00000507142.1_Missense_Mutation_p.M698I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	670					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)		TAACAGATCTCATCTGTTGCT	0.378																																						dbGAP											0													68.0	67.0	67.0					4																	170400599		1853	4087	5940	-	-	-	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.2010G>A	4.37:g.170400599C>T	ENSP00000408020:p.Met670Ile	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.M698I	ENST00000439128.2	37	c.2094	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	1.562	-0.536359	0.04082	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.66815	-0.22;-0.22;-0.22;-0.23;-0.22	4.83	-0.0479	0.13841	.	0.965735	0.08567	N	0.926644	T	0.42245	0.1194	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001	T	0.21143	-1.0254	10	0.13108	T	0.6	.	3.561	0.07882	0.1247:0.5585:0.123:0.1938	.	601;654;698;626;670	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	I	670;654;626;698;601	ENSP00000408020:M670I;ENSP00000423332:M654I;ENSP00000427653:M626I;ENSP00000424757:M698I;ENSP00000424938:M601I	ENSP00000408020:M670I	M	-	3	0	NEK1	170637174	0.000000	0.05858	0.012000	0.15200	0.520000	0.34377	-0.665000	0.05286	0.161000	0.19458	0.484000	0.47621	ATG	NEK1	-	NULL	ENSG00000137601		0.378	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	27	0.00	0	C			170400599	170400599	-1	no_errors	ENST00000507142	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	0.006	T
NHSL1	57224	genome.wustl.edu	37	6	138768229	138768229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr6:138768229C>T	ENST00000427025.2	-	4	1213	c.585G>A	c.(583-585)tgG>tgA	p.W195*	NHSL1_ENST00000343505.5_Nonsense_Mutation_p.W147*	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	195										breast(2)|endometrium(4)|kidney(1)	7						GCGACTTGGTCCAGTTCGTCT	0.468																																						dbGAP											0													305.0	253.0	269.0					6																	138768229		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.585G>A	6.37:g.138768229C>T	ENSP00000394546:p.Trp195*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCS5|Q5SYE8|Q9P2J0	Nonsense_Mutation	SNP	NULL	p.W195*	ENST00000427025.2	37	c.585	CCDS55063.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.844777|5.844777	0.97016|0.97016	.|.	.|.	ENSG00000135540|ENSG00000135540	ENST00000491526|ENST00000427025;ENST00000343505;ENST00000342260	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.112721	.|0.64402	.|D	.|0.000004	T|.	0.32224|.	0.0822|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33214|.	-0.9877|.	3|.	.|0.02654	.|T	.|1	-7.5624|-7.5624	19.8034|19.8034	0.96518|0.96518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	160|195;147;133	.|.	.|ENSP00000344582:W133X	G|W	-|-	2|3	0|0	NHSL1|NHSL1	138809922|138809922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.185000|5.185000	0.65076|0.65076	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	GGA|TGG	NHSL1	-	NULL	ENSG00000135540		0.468	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	156	0.00	0	C	XM_050421		138768229	138768229	-1	no_errors	ENST00000427025	ensembl	human	known	69_37n	nonsense	288	21.53	79	SNP	1.000	T
NOX3	50508	genome.wustl.edu	37	6	155750167	155750167	+	Silent	SNP	G	G	T	rs200010606		TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr6:155750167G>T	ENST00000159060.2	-	9	1008	c.906C>A	c.(904-906)ccC>ccA	p.P302P		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	302	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGACTCCAGAGGGGTGGCTTA	0.463																																						dbGAP											0													94.0	95.0	95.0					6																	155750167		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.906C>A	6.37:g.155750167G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.P302	ENST00000159060.2	37	c.906	CCDS5250.1	6																																																																																			NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000074771		0.463	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	22	0.00	0	G			155750167	155750167	-1	no_errors	ENST00000159060	ensembl	human	known	69_37n	silent	44	18.52	10	SNP	0.244	T
NR3C2	4306	genome.wustl.edu	37	4	149357960	149357960	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr4:149357960C>T	ENST00000358102.3	-	2	415	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	NR3C2_ENST00000512865.1_Missense_Mutation_p.R18Q|NR3C2_ENST00000355292.3_Missense_Mutation_p.R18Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R18Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R18Q	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	18	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGACCCCACCGTCTTTCCAT	0.433																																					Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													77.0	69.0	71.0					4																	149357960		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.53G>A	4.37:g.149357960C>T	ENSP00000350815:p.Arg18Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R18Q	ENST00000358102.3	37	c.53	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918663	0.33908	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91407	-2.83;-2.84;-2.83;-2.45;-2.43;-2.84	6.02	4.31	0.51392	.	0.304661	0.35378	N	0.003252	D	0.83422	0.5251	L	0.34521	1.04	0.35991	D	0.836715	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.78132	-0.2323	9	.	.	.	.	9.6466	0.39872	0.0:0.7915:0.0:0.2085	.	18;18	B0ZBF5;B0ZBF6	.;.	Q	18	ENSP00000341390:R18Q;ENSP00000347441:R18Q;ENSP00000350815:R18Q;ENSP00000423510:R18Q;ENSP00000343907:R18Q;ENSP00000421481:R18Q	.	R	-	2	0	NR3C2	149577410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.801000	0.38843	0.893000	0.36288	0.655000	0.94253	CGG	NR3C2	-	NULL	ENSG00000151623		0.433	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	38	0.00	0	C			149357960	149357960	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	missense	66	25.84	23	SNP	1.000	T
PCDH11X	27328	genome.wustl.edu	37	X	91873605	91873605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chrX:91873605C>A	ENST00000373094.1	+	7	4555	c.3710C>A	c.(3709-3711)tCa>tAa	p.S1237*	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.S1200*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.S1219*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.S1229*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.S1200*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.S1227*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1237					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGCCCACCATCAGCACAGGCC	0.582																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													152.0	132.0	139.0					X																	91873605		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3710C>A	X.37:g.91873605C>A	ENSP00000362186:p.Ser1237*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1237*	ENST00000373094.1	37	c.3710	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.938324	0.97122	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1574	0.37000	0.0:1.0:0.0:0.0	.	.	.	.	X	1237;1227;1200;1219;1229;1237;1200	.	ENSP00000298274:S1200X	S	+	2	0	PCDH11X	91760261	0.026000	0.19158	0.100000	0.21137	0.856000	0.48823	0.094000	0.15107	1.897000	0.54924	0.466000	0.42574	TCA	PCDH11X	-	NULL	ENSG00000102290		0.582	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	148	0.00	0	C	NM_032969		91873605	91873605	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	nonsense	244	21.79	68	SNP	0.151	A
PDILT	204474	genome.wustl.edu	37	16	20380840	20380840	+	Missense_Mutation	SNP	G	G	A	rs191618493	byFrequency	TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr16:20380840G>A	ENST00000302451.4	-	8	1338	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	364					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.R364C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGGAAGCTGCGGCCAAATTTC	0.433													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19593	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	endometrium(1)											161.0	163.0	163.0					16																	20380840		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1090C>T	16.37:g.20380840G>A	ENSP00000305465:p.Arg364Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.R364C	ENST00000302451.4	37	c.1090	CCDS10584.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.06	1.528769	0.27387	.	.	ENSG00000169340	ENST00000302451	T	0.14516	2.5	4.89	-4.8	0.03190	Thioredoxin-like fold (1);	2.130490	0.01801	N	0.032874	T	0.14830	0.0358	L	0.40543	1.245	0.09310	N	1	D	0.65815	0.995	P	0.49887	0.625	T	0.38265	-0.9669	10	0.87932	D	0	.	3.3618	0.07189	0.1574:0.0998:0.1728:0.57	.	364	Q8N807	PDILT_HUMAN	C	364	ENSP00000305465:R364C	ENSP00000305465:R364C	R	-	1	0	PDILT	20288341	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.259000	0.18405	-0.362000	0.08113	0.551000	0.68910	CGC	PDILT	-	superfamily_Thioredoxin-like_fold	ENSG00000169340		0.433	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	84	0.00	0	G	NM_174924		20380840	20380840	-1	no_errors	ENST00000302451	ensembl	human	known	69_37n	missense	228	21.92	64	SNP	0.000	A
RBMXL3	139804	genome.wustl.edu	37	X	114426627	114426627	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chrX:114426627G>C	ENST00000424776.3	+	1	2665	c.2623G>C	c.(2623-2625)Ggc>Cgc	p.G875R	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	875	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CCACAGCAGGGGCCGATCGCC	0.637																																						dbGAP											0													37.0	38.0	38.0					X																	114426627		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.2623G>C	X.37:g.114426627G>C	ENSP00000417451:p.Gly875Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXC0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G875R	ENST00000424776.3	37	c.2623	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012930	0.35511	.	.	ENSG00000175718	ENST00000424776	T	0.07800	3.16	0.95	-0.262	0.12958	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.09310	N	0.999991	D	0.54964	0.969	B	0.43990	0.438	T	0.35574	-0.9783	9	0.87932	D	0	.	3.4127	0.07364	0.6482:0.0:0.3518:0.0	.	875	Q8N7X1	RMXL3_HUMAN	R	875	ENSP00000417451:G875R	ENSP00000417451:G875R	G	+	1	0	RBMXL3	114332883	0.928000	0.31464	0.020000	0.16555	0.020000	0.10135	0.619000	0.24388	0.177000	0.19895	0.179000	0.17066	GGC	RBMXL3	-	NULL	ENSG00000175718		0.637	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	37	0.00	0	G	NM_001145346		114426627	114426627	+1	no_errors	ENST00000424776	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.768	C
SCAPER	49855	genome.wustl.edu	37	15	76763568	76763568	+	Silent	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr15:76763568C>T	ENST00000563290.1	-	25	3158	c.3063G>A	c.(3061-3063)ctG>ctA	p.L1021L	SCAPER_ENST00000324767.7_Silent_p.L1021L|SCAPER_ENST00000538941.2_Silent_p.L775L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1021						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTGGTGTATCAGGAGGTCCA	0.363																																						dbGAP											0													97.0	90.0	92.0					15																	76763568		1847	4083	5930	-	-	-	SO:0001819	synonymous_variant	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3063G>A	15.37:g.76763568C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	smart_Znf_U1	p.L1021	ENST00000563290.1	37	c.3063	CCDS53962.1	15																																																																																			SCAPER	-	NULL	ENSG00000140386		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	58	0.00	0	C	NM_020843		76763568	76763568	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	silent	120	13.67	19	SNP	1.000	T
TCF25	22980	genome.wustl.edu	37	16	89977557	89977557	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr16:89977557G>T	ENST00000263346.8	+	18	1998	c.1942G>T	c.(1942-1944)Gct>Tct	p.A648S	TCF25_ENST00000263347.7_Missense_Mutation_p.G452V|RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	648					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GCTGATGCTGGCTGTGCGCGA	0.662																																						dbGAP											0													57.0	53.0	54.0					16																	89977557		2194	4298	6492	-	-	-	SO:0001583	missense	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1942G>T	16.37:g.89977557G>T	ENSP00000263346:p.Ala648Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.A648S	ENST00000263346.8	37	c.1942	CCDS10987.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876636|4.876636	0.91664|0.91664	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.102783|.	0.64402|.	D|.	0.000003|.	T|T	0.67420|0.67420	0.2891|0.2891	M|M	0.62723|0.62723	1.935|1.935	0.51482|0.51482	D|D	0.999929|0.999929	D|D	0.89917|0.56035	1.0|0.974	D|P	0.74348|0.53450	0.983|0.726	T|T	0.71810|0.71810	-0.4480|-0.4480	9|8	0.72032|0.87932	D|D	0.01|0	.|.	15.9199|15.9199	0.79556|0.79556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	648|452	Q9BQ70|Q9H384	TCF25_HUMAN|.	S|V	648|452	.|.	ENSP00000263346:A648S|ENSP00000263347:G452V	A|G	+|+	1|2	0|0	TCF25|TCF25	88505058|88505058	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.956000|0.956000	0.61745|0.61745	6.339000|6.339000	0.72969|0.72969	2.427000|2.427000	0.82271|0.82271	0.561000|0.561000	0.74099|0.74099	GCT|GGC	TCF25	-	NULL	ENSG00000141002		0.662	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	25	0.00	0	G	NM_014972		89977557	89977557	+1	no_errors	ENST00000263346	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170802027	170802027	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr3:170802027T>C	ENST00000436636.2	-	26	3430	c.3086A>G	c.(3085-3087)aAc>aGc	p.N1029S	TNIK_ENST00000470834.1_Missense_Mutation_p.N992S|TNIK_ENST00000357327.5_Missense_Mutation_p.N1000S|TNIK_ENST00000538048.1_Missense_Mutation_p.N981S|TNIK_ENST00000341852.6_Missense_Mutation_p.N945S|TNIK_ENST00000460047.1_Missense_Mutation_p.N966S|TNIK_ENST00000488470.1_Missense_Mutation_p.N974S|TNIK_ENST00000369326.5_Missense_Mutation_p.N1007S|TNIK_ENST00000475336.1_Missense_Mutation_p.N937S|TNIK_ENST00000284483.8_Missense_Mutation_p.N1021S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1029	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.N1029I(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGGCCGAATGTTGGTTGGGTT	0.408																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											133.0	128.0	129.0					3																	170802027		1860	4104	5964	-	-	-	SO:0001583	missense	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3086A>G	3.37:g.170802027T>C	ENSP00000399511:p.Asn1029Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.N1029S	ENST00000436636.2	37	c.3086	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203581	0.58234	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74632	-0.84;-0.83;-0.85;-0.85;-0.84;-0.85;-0.85;-0.86;-0.86;-0.85	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.81802	2.56	0.80722	D	1	D;P;D;D;P;P;D;P	0.56035	0.974;0.584;0.974;0.974;0.918;0.737;0.974;0.948	D;B;D;D;P;B;D;B	0.70487	0.969;0.171;0.969;0.969;0.525;0.171;0.969;0.325	D	0.84979	0.0887	10	0.32370	T	0.25	.	16.16	0.81698	0.0:0.0:0.0:1.0	.	937;992;966;945;1021;1000;974;1029	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	S	1029;1007;981;945;1021;937;1000;966;974;992	ENSP00000399511:N1029S;ENSP00000358332:N1007S;ENSP00000443278:N981S;ENSP00000345352:N945S;ENSP00000284483:N1021S;ENSP00000418156:N937S;ENSP00000349880:N1000S;ENSP00000418916:N966S;ENSP00000418378:N974S;ENSP00000419990:N992S	ENSP00000284483:N1021S	N	-	2	0	TNIK	172284721	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.651000	0.83577	2.266000	0.75297	0.528000	0.53228	AAC	TNIK	-	NULL	ENSG00000154310		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	110	0.89	1	T	XM_039796		170802027	170802027	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	missense	258	20.00	65	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179419393	179419393	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr2:179419393C>T	ENST00000591111.1	-	282	83982	c.83758G>A	c.(83758-83760)Gat>Aat	p.D27920N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D29561N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D20688N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26993N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20621N|TTN_ENST00000460472.2_Missense_Mutation_p.D20496N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27920	Fibronectin type-III 103. {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)			GCACCACCATCATCAGCTGGA	0.478																																						dbGAP											0													113.0	114.0	114.0					2																	179419393		2002	4179	6181	-	-	-	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.83758G>A	2.37:g.179419393C>T	ENSP00000465570:p.Asp27920Asn	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.D26993N	ENST00000591111.1	37	c.80977		2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031251	0.93575	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69708	0.3141	L	0.46614	1.455	0.58432	D	0.999999	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	P;P;P;P	0.60236	0.871;0.871;0.871;0.871	T	0.70745	-0.4788	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20496;20621;20688;27920	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	26993;20496;20688;20621;20493	ENSP00000343764:D26993N;ENSP00000434586:D20496N;ENSP00000340554:D20688N;ENSP00000352154:D20621N	ENSP00000340554:D20688N	D	-	1	0	TTN	179127639	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.041000	0.70988	2.826000	0.97356	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	56	0.00	0	C	NM_133378		179419393	179419393	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	105	25.00	35	SNP	1.000	T
VPS13B	157680	genome.wustl.edu	37	8	100479779	100479779	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr8:100479779A>G	ENST00000358544.2	+	24	3694	c.3583A>G	c.(3583-3585)Acg>Gcg	p.T1195A	VPS13B_ENST00000357162.2_Missense_Mutation_p.T1195A|VPS13B_ENST00000395996.1_Missense_Mutation_p.T1195A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1195					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACTGCTTGCTACGGGACCTGA	0.438																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													214.0	185.0	195.0					8																	100479779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3583A>G	8.37:g.100479779A>G	ENSP00000351346:p.Thr1195Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.T1195A	ENST00000358544.2	37	c.3583	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984498	0.35036	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.43294	0.95;0.95;0.95	5.62	-2.43	0.06522	.	0.776034	0.12622	N	0.452966	T	0.21347	0.0514	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.0;0.001	T	0.23547	-1.0185	10	0.17369	T	0.5	.	5.9939	0.19483	0.1863:0.0:0.4053:0.4084	.	1194;1195;1195;1195	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	A	1195	ENSP00000349685:T1195A;ENSP00000351346:T1195A;ENSP00000379318:T1195A	ENSP00000349685:T1195A	T	+	1	0	VPS13B	100548955	0.023000	0.18921	0.155000	0.22561	0.970000	0.65996	-0.286000	0.08399	-0.062000	0.13088	0.459000	0.35465	ACG	VPS13B	-	NULL	ENSG00000132549		0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	47	0.00	0	A	NM_184042		100479779	100479779	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	111	18.38	25	SNP	0.006	G
XIRP2	129446	genome.wustl.edu	37	2	168105004	168105004	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr2:168105004C>T	ENST00000409195.1	+	9	7191	c.7102C>T	c.(7102-7104)Cct>Tct	p.P2368S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2368S|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2146S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2193					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCGCCTCCTCCTCCTCCAAC	0.473																																						dbGAP											0													87.0	95.0	92.0					2																	168105004		1989	4155	6144	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7102C>T	2.37:g.168105004C>T	ENSP00000386840:p.Pro2368Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.P2368S	ENST00000409195.1	37	c.7102	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488481	0.64074	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03035	4.07;4.07;4.07	6.02	5.15	0.70609	.	0.233149	0.43919	D	0.000506	T	0.05960	0.0155	M	0.67953	2.075	0.39676	D	0.970828	B;P;P	0.36683	0.429;0.565;0.465	B;B;B	0.37888	0.133;0.26;0.179	T	0.40308	-0.9570	10	0.24483	T	0.36	-3.2667	9.1507	0.36962	0.1454:0.7805:0.0:0.074	.	2193;2193;2146	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2368;2368;2146	ENSP00000386840:P2368S;ENSP00000295237:P2368S;ENSP00000387255:P2146S	ENSP00000295237:P2368S	P	+	1	0	XIRP2	167813250	0.084000	0.21492	0.723000	0.30687	0.510000	0.34073	1.174000	0.31932	1.569000	0.49696	0.655000	0.94253	CCT	XIRP2	-	NULL	ENSG00000163092		0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	41	0.00	0	C	NM_152381		168105004	168105004	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	115	12.88	17	SNP	0.997	T
ZCCHC2	54877	genome.wustl.edu	37	18	60241584	60241584	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LN-01A-21D-A18P-09	TCGA-AR-A2LN-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	50f62c87-7930-4d8a-add5-597baec8135d	9e056f5e-3cb0-41f2-8f05-c087737291ba	g.chr18:60241584C>T	ENST00000269499.5	+	13	2688	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A436V	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	757						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGTCCTGTTGCTATTTCTGCA	0.488																																						dbGAP											0													82.0	80.0	81.0					18																	60241584		1946	4146	6092	-	-	-	SO:0001583	missense	0			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2270C>T	18.37:g.60241584C>T	ENSP00000269499:p.Ala757Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.A757V	ENST00000269499.5	37	c.2270	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163657	0.38217	.	.	ENSG00000141664	ENST00000269499	T	0.27557	1.66	5.59	4.72	0.59763	.	0.210254	0.40728	N	0.001022	T	0.24736	0.0600	N	0.24115	0.695	0.25768	N	0.984864	P	0.42827	0.791	B	0.40782	0.34	T	0.08452	-1.0721	10	0.59425	D	0.04	-8.4477	15.0424	0.71803	0.143:0.857:0.0:0.0	.	757	Q9C0B9	ZCHC2_HUMAN	V	757	ENSP00000269499:A757V	ENSP00000269499:A757V	A	+	2	0	ZCCHC2	58392564	0.989000	0.36119	0.336000	0.25522	0.239000	0.25481	5.112000	0.64634	1.346000	0.45694	-0.169000	0.13324	GCT	ZCCHC2	-	NULL	ENSG00000141664		0.488	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	41	0.00	0	C	NM_017742		60241584	60241584	+1	no_errors	ENST00000269499	ensembl	human	known	69_37n	missense	82	26.79	30	SNP	0.394	T
