#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
ABCC6	368	genome.wustl.edu	37	16	16282792	16282792	+	Missense_Mutation	SNP	C	C	T	rs114149656		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr16:16282792C>T	ENST00000205557.7	-	13	1704	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	559	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	ATAGCATTCTCGGCCACCAGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		20564	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													90.0	80.0	84.0					16																	16282792		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1675G>A	16.37:g.16282792C>T	ENSP00000205557:p.Glu559Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E559K	ENST00000205557.7	37	c.1675	CCDS10568.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.07	2.425850	0.43020	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91577	-2.87;-2.87	5.47	2.43	0.29744	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.460661	0.17730	N	0.163933	D	0.86053	0.5841	L	0.49126	1.545	0.80722	D	1	B;B	0.18461	0.023;0.028	B;B	0.12837	0.007;0.008	T	0.79339	-0.1844	10	0.62326	D	0.03	.	8.1454	0.31108	0.0:0.7227:0.1306:0.1467	.	571;559	F5GWQ0;O95255	.;MRP6_HUMAN	K	559;559;571	ENSP00000205557:E559K;ENSP00000405002:E559K	ENSP00000205557:E559K	E	-	1	0	ABCC6	16190293	0.105000	0.21958	0.871000	0.34182	0.948000	0.59901	0.674000	0.25218	0.263000	0.21812	-0.150000	0.13652	GAG	ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	53	0.00	0	C			16282792	16282792	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.999	T
AR	367	genome.wustl.edu	37	X	66766554	66766554	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chrX:66766554C>T	ENST00000374690.3	+	1	2090	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	AR_ENST00000396044.3_Silent_p.S522S|AR_ENST00000504326.1_Silent_p.S522S|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	521	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTGTCAAAAGCGAAATGGGCC	0.587									Androgen Insensitivity Syndrome																													dbGAP											0													58.0	40.0	46.0					X																	66766554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1566C>T	X.37:g.66766554C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.S522	ENST00000374690.3	37	c.1566	CCDS14387.1	X																																																																																			AR	-	NULL	ENSG00000169083		0.587	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	36	0.00	0	C	NM_000044		66766554	66766554	+1	no_errors	ENST00000374690	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.990	T
ARAP2	116984	genome.wustl.edu	37	4	36115810	36115810	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr4:36115810T>C	ENST00000303965.4	-	26	4627	c.4138A>G	c.(4138-4140)Att>Gtt	p.I1380V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1380	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATTTTCAATGACTTCAAAT	0.289																																						dbGAP											0													117.0	131.0	126.0					4																	36115810		2202	4292	6494	-	-	-	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4138A>G	4.37:g.36115810T>C	ENSP00000302895:p.Ile1380Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.I1380V	ENST00000303965.4	37	c.4138	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835080	0.50951	.	.	ENSG00000047365	ENST00000303965	T	0.16457	2.34	5.89	5.89	0.94794	Ras-association (2);	0.111403	0.64402	D	0.000019	T	0.20210	0.0486	L	0.44542	1.39	0.42234	D	0.991901	P	0.47762	0.9	P	0.49799	0.622	T	0.03364	-1.1044	10	0.07990	T	0.79	.	12.9901	0.58614	0.0:0.0:0.1433:0.8567	.	1380	Q8WZ64	ARAP2_HUMAN	V	1380	ENSP00000302895:I1380V	ENSP00000302895:I1380V	I	-	1	0	ARAP2	35792205	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.771000	0.62318	2.250000	0.74265	0.455000	0.32223	ATT	ARAP2	-	pfam_Ras-assoc,pfscan_Ras-assoc	ENSG00000047365		0.289	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	106	0.00	0	T	NM_015230		36115810	36115810	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	C
ARHGAP21	57584	genome.wustl.edu	37	10	24896748	24896748	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr10:24896748G>T	ENST00000396432.2	-	10	2993	c.2507C>A	c.(2506-2508)cCc>cAc	p.P836H	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P623H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	835					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTATGGAGGGGACCTGAGA	0.463																																						dbGAP											0													129.0	111.0	117.0					10																	24896748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2507C>A	10.37:g.24896748G>T	ENSP00000379709:p.Pro836His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.P836H	ENST00000396432.2	37	c.2507	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584726	0.86748	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.64	5.64	0.86602	.	0.051302	0.85682	D	0.000000	T	0.69602	0.3129	M	0.65975	2.015	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.70583	-0.4832	10	0.87932	D	0	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	826;835	F8W9U9;Q5T5U3	.;RHG21_HUMAN	H	836;623;826;836;671	ENSP00000379709:P836H;ENSP00000365604:P623H;ENSP00000365592:P826H;ENSP00000405018:P836H	ENSP00000365604:P623H	P	-	2	0	ARHGAP21	24936754	1.000000	0.71417	0.974000	0.42286	0.967000	0.64934	7.512000	0.81728	2.820000	0.97059	0.650000	0.86243	CCC	ARHGAP21	-	NULL	ENSG00000107863		0.463	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	74	0.00	0	G	NM_020824		24896748	24896748	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	T
ARL15	54622	genome.wustl.edu	37	5	53182436	53182436	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr5:53182436C>T	ENST00000504924.1	-	5	663	c.570G>A	c.(568-570)ctG>ctA	p.L190L	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_Silent_p.L11L	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	190					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				ACAAATTAATCAGCTGAGAGA	0.413																																						dbGAP											0													56.0	50.0	52.0					5																	53182436		1862	4111	5973	-	-	-	SO:0001819	synonymous_variant	0			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.570G>A	5.37:g.53182436C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAD0	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.L190	ENST00000504924.1	37	c.570	CCDS54850.1	5																																																																																			ARL15	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	ENSG00000185305		0.413	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	112	0.00	0	C	NM_019087		53182436	53182436	-1	no_errors	ENST00000504924	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	0.996	T
ATP10A	57194	genome.wustl.edu	37	15	25953373	25953373	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr15:25953373C>G	ENST00000356865.6	-	11	2530	c.2419G>C	c.(2419-2421)Ggc>Cgc	p.G807R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	807					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGCGCAGGCCTTCCGCCGCA	0.577																																						dbGAP											0													128.0	109.0	116.0					15																	25953373		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2419G>C	15.37:g.25953373C>G	ENSP00000349325:p.Gly807Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G807R	ENST00000356865.6	37	c.2419	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005821	0.93287	.	.	ENSG00000206190	ENST00000356865	D	0.89415	-2.51	4.84	4.84	0.62591	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98247	1.0491	10	0.87932	D	0	-35.7382	17.9717	0.89115	0.0:1.0:0.0:0.0	.	807	O60312	AT10A_HUMAN	R	807	ENSP00000349325:G807R	ENSP00000349325:G807R	G	-	1	0	ATP10A	23504466	1.000000	0.71417	0.985000	0.45067	0.911000	0.54048	7.565000	0.82337	2.231000	0.72958	0.655000	0.94253	GGC	ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000206190		0.577	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	72	0.00	0	C	NM_024490		25953373	25953373	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	G
ATP2B2	491	genome.wustl.edu	37	3	10370571	10370571	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr3:10370571G>A	ENST00000352432.4	-	22	3728	c.3659C>T	c.(3658-3660)aCg>aTg	p.T1220M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T1175M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T1175M|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T1220M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T1206M|MIR378B_ENST00000578876.1_RNA			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1220					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGTCGGTCGTCAGGTTGAT	0.602																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													123.0	106.0	112.0					3																	10370571		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3659C>T	3.37:g.10370571G>A	ENSP00000324172:p.Thr1220Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.T1220M	ENST00000352432.4	37	c.3659	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781780	0.70222	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	D;D;D;D;D;D	0.92299	-3.01;-3.0;-3.0;-3.01;-3.01;-3.0	5.97	5.09	0.68999	.	0.211192	0.48767	D	0.000168	D	0.95201	0.8444	L	0.60455	1.87	0.80722	D	1	D;P;P	0.89917	1.0;0.791;0.871	D;B;B	0.85130	0.997;0.301;0.301	D	0.95603	0.8665	10	0.72032	D	0.01	-21.7517	17.28	0.87126	0.0:0.1255:0.8745:0.0	.	1155;1187;1220	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	1220;1175;1175;1220;1206;1155;409;1076	ENSP00000324172:T1220M;ENSP00000373311:T1175M;ENSP00000380267:T1175M;ENSP00000353414:T1220M;ENSP00000344677:T1206M;ENSP00000414854:T1076M	ENSP00000344677:T1206M	T	-	2	0	ATP2B2	10345571	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.923000	0.87546	1.518000	0.48934	0.585000	0.79938	ACG	ATP2B2	-	NULL	ENSG00000157087		0.602	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	91	0.00	0	G	NM_001683		10370571	10370571	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	missense	90	12.62	13	SNP	1.000	A
CDK5RAP1	51654	genome.wustl.edu	37	20	31984736	31984736	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr20:31984736C>A	ENST00000357886.4	-	2	288	c.135G>T	c.(133-135)gaG>gaT	p.E45D	CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E45D|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.E45D|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.E45D			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	45	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTCCTGCCTCTCTGGACTGG	0.557																																						dbGAP											0													73.0	68.0	70.0					20																	31984736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.135G>T	20.37:g.31984736C>A	ENSP00000350558:p.Glu45Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.E45D	ENST00000357886.4	37	c.135		20	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049885	0.36181	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	2.06	0.26882	.	0.745999	0.13415	N	0.389556	T	0.31167	0.0788	L	0.48642	1.525	0.09310	N	0.999998	B;B;B;B;B;B	0.25609	0.0;0.13;0.001;0.002;0.025;0.001	B;B;B;B;B;B	0.24701	0.001;0.055;0.001;0.002;0.024;0.004	T	0.18840	-1.0324	9	0.24483	T	0.36	-11.5237	5.6374	0.17544	0.0:0.6525:0.1579:0.1896	.	45;45;45;45;45;45	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	D	45	.	ENSP00000341840:E45D	E	-	3	2	CDK5RAP1	31448397	0.089000	0.21612	0.465000	0.27155	0.893000	0.52053	0.171000	0.16685	0.713000	0.32060	0.491000	0.48974	GAG	CDK5RAP1	-	NULL	ENSG00000101391		0.557	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	38	0.00	0	C	NM_016408		31984736	31984736	-1	no_errors	ENST00000357886	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	0.128	A
CDX2	1045	genome.wustl.edu	37	13	28537414	28537414	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr13:28537414C>T	ENST00000381020.7	-	3	2912	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	260	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGCGGAGGCGGCTGTGGTG	0.567			T	ETV6	AML																																	dbGAP		Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0													68.0	51.0	57.0					13																	28537414		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.780G>A	13.37:g.28537414C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.R103H	ENST00000381020.7	37	c.308	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	C	1.912	-0.450431	0.04572	.	.	ENSG00000165556	ENST00000548877	.	.	.	3.95	2.17	0.27698	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-1.6494	5.8304	0.18577	0.1809:0.509:0.3101:0.0	.	.	.	.	H	103	.	.	R	-	2	0	CDX2	27435414	0.894000	0.30519	0.265000	0.24526	0.173000	0.22820	0.000000	0.12993	0.293000	0.22520	0.609000	0.83330	CGC	CDX2	-	NULL	ENSG00000165556		0.567	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	95	0.00	0	C			28537414	28537414	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000548877	ensembl	human	putative	69_37n	missense	56	18.57	13	SNP	0.882	T
CEP128	145508	genome.wustl.edu	37	14	81329162	81329162	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr14:81329162T>C	ENST00000555265.1	-	9	1076	c.701A>G	c.(700-702)gAa>gGa	p.E234G	CEP128_ENST00000216517.6_Missense_Mutation_p.E234G|CEP128_ENST00000281129.3_Missense_Mutation_p.E234G			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	234						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGCTCCCTTTCTGTGCGCAT	0.473																																						dbGAP											0													119.0	102.0	108.0					14																	81329162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.701A>G	14.37:g.81329162T>C	ENSP00000451162:p.Glu234Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.E234G	ENST00000555265.1	37	c.701	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.937609|3.937609	0.73557|0.73557	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517|ENST00000554827	T;T;T|.	0.55413|.	1.15;1.15;0.52|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73265|0.73265	0.3565|0.3565	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.998|.	T|T	0.72388|0.72388	-0.4309|-0.4309	10|5	0.66056|.	D|.	0.02|.	.|.	15.6264|15.6264	0.76863|0.76863	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	234;115;234|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	G|E	234|113	ENSP00000281129:E234G;ENSP00000451162:E234G;ENSP00000216517:E234G|.	ENSP00000216517:E234G|.	E|K	-|-	2|1	0|0	CEP128|CEP128	80398915|80398915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.386000|0.386000	0.30323|0.30323	4.129000|4.129000	0.57957|0.57957	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAA|AAA	CEP128	-	NULL	ENSG00000100629		0.473	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	104	0.00	0	T	NM_152446		81329162	81329162	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	1.000	C
CHIC2	26511	genome.wustl.edu	37	4	54915207	54915207	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr4:54915207delT	ENST00000263921.3	-	3	634	c.245delA	c.(244-246)aatfs	p.N82fs	CHIC2_ENST00000512964.1_Frame_Shift_Del_p.N82fs|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	82						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CCAACGTACATTAACAGGAAG	0.363			T	ETV6	AML																																	dbGAP		Dom	yes		4	4q11-q12	26511	cysteine-rich hydrophobic domain 2		L	0													37.0	32.0	34.0					4																	54915207		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.245delA	4.37:g.54915207delT	ENSP00000263921:p.Asn82fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R639	Frame_Shift_Del	DEL	pfam_Golgin_A_7/ERF4	p.N82fs	ENST00000263921.3	37	c.245	CCDS3493.1	4																																																																																			CHIC2	-	pfam_Golgin_A_7/ERF4	ENSG00000109220		0.363	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC2	HGNC	protein_coding	OTTHUMT00000219937.2	46	0.00	0	T			54915207	54915207	-1	no_errors	ENST00000263921	ensembl	human	known	69_37n	frame_shift_del	27	22.86	8	DEL	1.000	-
COL9A1	1297	genome.wustl.edu	37	6	71004156	71004156	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr6:71004156G>C	ENST00000357250.6	-	5	568	c.410C>G	c.(409-411)tCt>tGt	p.S137C	COL9A1_ENST00000370496.3_Missense_Mutation_p.S137C	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	137	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTTCCCAGAGGAATCCTG	0.448																																						dbGAP											0													146.0	147.0	147.0					6																	71004156		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.410C>G	6.37:g.71004156G>C	ENSP00000349790:p.Ser137Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.S137C	ENST00000357250.6	37	c.410	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626908	0.46840	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02345	4.33;4.33	5.58	1.14	0.20703	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.885835	0.09990	N	0.729860	T	0.01092	0.0036	L	0.38175	1.15	0.19300	N	0.999971	P	0.39094	0.659	B	0.42593	0.392	T	0.49322	-0.8952	10	0.36615	T	0.2	.	4.5708	0.12208	0.2553:0.0:0.4896:0.2551	.	137	P20849	CO9A1_HUMAN	C	137	ENSP00000349790:S137C;ENSP00000359527:S137C	ENSP00000349790:S137C	S	-	2	0	COL9A1	71060877	0.918000	0.31147	0.584000	0.28653	0.826000	0.46750	1.272000	0.33109	0.376000	0.24707	0.650000	0.86243	TCT	COL9A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000112280		0.448	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	46	0.00	0	G			71004156	71004156	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.169	C
CTBP2	1488	genome.wustl.edu	37	10	126683158	126683158	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr10:126683158G>A	ENST00000337195.5	-	7	1059	c.660C>T	c.(658-660)tcC>tcT	p.S220S	CTBP2_ENST00000334808.6_Silent_p.S288S|CTBP2_ENST00000531469.1_Silent_p.S220S|CTBP2_ENST00000494626.2_Silent_p.S220S|CTBP2_ENST00000411419.2_Silent_p.S220S|CTBP2_ENST00000309035.6_Silent_p.S760S	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	220					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCACGCCCAGGGACCGCTCGA	0.557																																						dbGAP											0													74.0	72.0	72.0					10																	126683158		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.660C>T	10.37:g.126683158G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.S760	ENST00000337195.5	37	c.2280	CCDS7643.1	10																																																																																			CTBP2	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000175029		0.557	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	71	0.00	0	G	NM_001083914		126683158	126683158	-1	no_errors	ENST00000309035	ensembl	human	known	69_37n	silent	156	10.86	19	SNP	1.000	A
DPEP3	64180	genome.wustl.edu	37	16	68009816	68009816	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr16:68009816G>T	ENST00000268793.4	-	10	1767	c.1394C>A	c.(1393-1395)cCt>cAt	p.P465H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	440					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCATTCTGAGGCACGAGGTG	0.602																																						dbGAP											0													78.0	82.0	81.0					16																	68009816		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1394C>A	16.37:g.68009816G>T	ENSP00000268793:p.Pro465His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.P465H	ENST00000268793.4	37	c.1394	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	8.253	0.809474	0.16537	.	.	ENSG00000141096	ENST00000268793	T	0.18016	2.24	4.2	3.25	0.37280	.	1.669770	0.03072	N	0.157296	T	0.18425	0.0442	L	0.46741	1.465	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.20405	-1.0276	10	0.30854	T	0.27	-0.4948	7.7642	0.28970	0.1113:0.0:0.8887:0.0	.	440	Q9H4B8	DPEP3_HUMAN	H	465	ENSP00000268793:P465H	ENSP00000268793:P465H	P	-	2	0	DPEP3	66567317	0.963000	0.33076	0.026000	0.17262	0.022000	0.10575	2.357000	0.44125	1.354000	0.45846	0.655000	0.94253	CCT	DPEP3	-	NULL	ENSG00000141096		0.602	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	92	0.00	0	G	NM_022357		68009816	68009816	-1	no_errors	ENST00000268793	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	0.030	T
EIF3D	8664	genome.wustl.edu	37	22	36907704	36907704	+	Silent	SNP	G	G	A	rs371162938		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr22:36907704G>A	ENST00000216190.8	-	14	1849	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	EIF3D_ENST00000405442.1_Silent_p.C493C|EIF3D_ENST00000478547.1_5'Flank|EIF3D_ENST00000541106.1_Silent_p.C444C	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.C493C(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGTCAATGACGCAGCGTAAAA	0.552											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	lung(1)											156.0	119.0	131.0					22																	36907704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1479C>T	22.37:g.36907704G>A		Somatic	866	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.C493	ENST00000216190.8	37	c.1479	CCDS13930.1	22																																																																																			EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	ENSG00000100353		0.552	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	78	0.00	0	G			36907704	36907704	-1	no_errors	ENST00000216190	ensembl	human	known	69_37n	silent	63	13.70	10	SNP	1.000	A
QPRT	23475	genome.wustl.edu	37	16	29706325	29706325	+	Silent	SNP	C	C	G			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr16:29706325C>G	ENST00000395384.4	+	2	515	c.354C>G	c.(352-354)gcC>gcG	p.A118A	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	118					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	CCAGTGCTGCCGCCGCTGCAG	0.721																																						dbGAP											0													11.0	16.0	14.0					16																	29706325		2160	4243	6403	-	-	-	SO:0001819	synonymous_variant	0			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.354C>G	16.37:g.29706325C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	NULL	p.P157R	ENST00000395384.4	37	c.470	CCDS10651.1	16																																																																																			AC009133.19	-	NULL	ENSG00000262323		0.721	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262323	Clone_based_vega_gene	protein_coding	OTTHUMT00000215011.2	28	0.00	0	C	NM_014298		29706325	29706325	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000449759	ensembl	human	putative	69_37n	missense	30	14.29	5	SNP	0.000	G
AMER1	139285	genome.wustl.edu	37	X	63410049	63410049	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chrX:63410049C>T	ENST00000330258.3	-	2	3390	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1040	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTCTGGGAGGCCTGTGGCTGG	0.612																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											26.0	31.0	29.0					X																	63410049		2065	4187	6252	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3118G>A	X.37:g.63410049C>T	ENSP00000329117:p.Ala1040Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.A1040T	ENST00000330258.3	37	c.3118	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251394	0.22880	.	.	ENSG00000184675	ENST00000330258	T	0.55052	0.54	4.84	2.82	0.32997	.	.	.	.	.	T	0.33089	0.0851	N	0.24115	0.695	0.29014	N	0.886713	B	0.02656	0.0	B	0.06405	0.002	T	0.18935	-1.0321	8	.	.	.	0.0783	5.4367	0.16486	0.1957:0.682:0.0:0.1223	.	1040	Q5JTC6	F123B_HUMAN	T	1040	ENSP00000329117:A1040T	.	A	-	1	0	FAM123B	63326774	0.156000	0.22821	0.919000	0.36401	0.473000	0.32948	0.329000	0.19698	1.080000	0.41073	0.529000	0.55759	GCC	FAM123B	-	NULL	ENSG00000184675		0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	46	0.00	0	C	NM_152424		63410049	63410049	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	0.480	T
FASN	2194	genome.wustl.edu	37	17	80047261	80047261	+	Splice_Site	SNP	C	C	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr17:80047261C>A	ENST00000306749.2	-	13	2184		c.e13-1			NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ACACCGGGGCCTGGACATCGT	0.632																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													46.0	48.0	48.0					17																	80047261		2201	4298	6499	-	-	-	SO:0001630	splice_region_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1966-1G>T	17.37:g.80047261C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	-	e12-1	ENST00000306749.2	37	c.1966-1	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441030	0.43326	.	.	ENSG00000169710	ENST00000306749	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2973	0.66321	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FASN	77640550	1.000000	0.71417	0.418000	0.26571	0.019000	0.09904	6.077000	0.71275	1.970000	0.57323	0.462000	0.41574	.	FASN	-	-	ENSG00000169710		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	26	0.00	0	C	NM_004104	Intron	80047261	80047261	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	splice_site	16	20.00	4	SNP	1.000	A
FBXL8	55336	genome.wustl.edu	37	16	67196943	67196943	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr16:67196943G>A	ENST00000258200.3	+	3	522	c.345G>A	c.(343-345)ccG>ccA	p.P115P	HSF4_ENST00000421453.1_5'Flank|FBXL8_ENST00000519917.1_Silent_p.P115P|HSF4_ENST00000264009.8_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000584272.1_5'Flank|TRADD_ENST00000345057.4_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	115										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GAGAAAAACCGCTCTTCGACG	0.721																																						dbGAP											0													8.0	9.0	9.0					16																	67196943		2160	4243	6403	-	-	-	SO:0001819	synonymous_variant	0			AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.345G>A	16.37:g.67196943G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NUM0	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.P115	ENST00000258200.3	37	c.345	CCDS10831.1	16																																																																																			FBXL8	-	NULL	ENSG00000135722		0.721	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL8	HGNC	protein_coding	OTTHUMT00000268834.2	26	0.00	0	G			67196943	67196943	+1	no_errors	ENST00000258200	ensembl	human	known	69_37n	silent	5	54.55	6	SNP	0.974	A
GAPVD1	26130	genome.wustl.edu	37	9	128064405	128064405	+	Missense_Mutation	SNP	T	T	C	rs368177393	byFrequency	TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr9:128064405T>C	ENST00000495955.1	+	5	619	c.329T>C	c.(328-330)aTt>aCt	p.I110T	GAPVD1_ENST00000470056.1_Missense_Mutation_p.I110T|GAPVD1_ENST00000265956.4_Missense_Mutation_p.I110T|GAPVD1_ENST00000394105.2_Missense_Mutation_p.I110T|GAPVD1_ENST00000394084.1_Missense_Mutation_p.I110T|GAPVD1_ENST00000394083.2_Missense_Mutation_p.I110T|GAPVD1_ENST00000312123.9_Missense_Mutation_p.I110T|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394104.2_Missense_Mutation_p.I110T|GAPVD1_ENST00000297933.6_Missense_Mutation_p.I110T			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	110					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTCGTCTTATTGCCTCCTCT	0.398													T|||	5	0.000998403	0.0	0.0	5008	,	,		17366	0.0		0.0	False		,,,				2504	0.0051					dbGAP											0													157.0	157.0	157.0					9																	128064405		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.329T>C	9.37:g.128064405T>C	ENSP00000419063:p.Ile110Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.I110T	ENST00000495955.1	37	c.329		9	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010389	0.54361	.	.	ENSG00000165219	ENST00000461379;ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.73	5.73	0.89815	Rho GTPase activation protein (1);	0.105235	0.64402	D	0.000004	T	0.67069	0.2854	N	0.08118	0	0.58432	D	0.99999	B;B;B;B;P;B	0.36535	0.421;0.403;0.403;0.403;0.557;0.009	B;B;B;B;B;B	0.28305	0.04;0.088;0.088;0.088;0.088;0.005	T	0.73512	-0.3959	10	0.72032	D	0.01	.	15.2151	0.73258	0.0:0.0:0.0:1.0	.	110;110;110;110;110;110	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	GAPD1_HUMAN;.;.;.;.;.	T	110	ENSP00000377646:I110T;ENSP00000419767:I110T;ENSP00000377665:I110T;ENSP00000377664:I110T;ENSP00000265956:I110T;ENSP00000377645:I110T;ENSP00000419063:I110T;ENSP00000418747:I110T;ENSP00000297933:I110T;ENSP00000309582:I110T	ENSP00000265956:I110T	I	+	2	0	GAPVD1	127104226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.470000	0.80973	2.184000	0.69523	0.533000	0.62120	ATT	GAPVD1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000165219		0.398	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	59	0.00	0	T			128064405	128064405	+1	no_errors	ENST00000394105	ensembl	human	known	69_37n	missense	77	12.50	11	SNP	1.000	C
GLA	2717	genome.wustl.edu	37	X	100662776	100662776	+	Missense_Mutation	SNP	G	G	A	rs201819574		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chrX:100662776G>A	ENST00000218516.3	-	1	137	c.116C>T	c.(115-117)aCg>aTg	p.T39M	GLA_ENST00000479445.1_5'UTR|HNRNPH2_ENST00000316594.5_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	39					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CATGGTAGGCGTCCTTGCCAA	0.582													G|||	1	0.000264901	0.0	0.0	3775	,	,		12439	0.0		0.001	False		,,,				2504	0.0				Colon(193;776 2816 31189 44474)	dbGAP											0													101.0	100.0	101.0					X																	100662776		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.116C>T	X.37:g.100662776G>A	ENSP00000218516:p.Thr39Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LER7	Missense_Mutation	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.T39M	ENST00000218516.3	37	c.116	CCDS14484.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.98	3.270294	0.59540	.	.	ENSG00000102393	ENST00000218516	D	0.99940	-8.39	5.5	4.64	0.57946	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.097264	0.64402	D	0.000001	D	0.99926	0.9966	.	.	.	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	D	0.95433	0.8518	9	0.87932	D	0	-17.0703	13.4106	0.60940	0.0766:0.0:0.9234:0.0	.	39;39	B4DLT5;P06280	.;AGAL_HUMAN	M	39	ENSP00000218516:T39M	ENSP00000218516:T39M	T	-	2	0	GLA	100549432	1.000000	0.71417	0.168000	0.22838	0.594000	0.36715	4.856000	0.62932	1.307000	0.44944	0.597000	0.82753	ACG	GLA	-	superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	ENSG00000102393		0.582	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	65	0.00	0	G			100662776	100662776	-1	no_errors	ENST00000218516	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.956	A
GLI2	2736	genome.wustl.edu	37	2	121708927	121708927	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr2:121708927C>T	ENST00000452319.1	+	4	423	c.363C>T	c.(361-363)taC>taT	p.Y121Y	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.Y121Y					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCACCCGTACGTGAACCCCC	0.657																																						dbGAP											0													59.0	62.0	61.0					2																	121708927		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.363C>T	2.37:g.121708927C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y121	ENST00000452319.1	37	c.363	CCDS33283.1	2																																																																																			GLI2	-	NULL	ENSG00000074047		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	34	0.00	0	C	NM_005270		121708927	121708927	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	silent	14	50.00	14	SNP	0.996	T
GLI3	2737	genome.wustl.edu	37	7	42005234	42005234	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr7:42005234A>C	ENST00000395925.3	-	15	3521	c.3437T>G	c.(3436-3438)cTc>cGc	p.L1146R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1146					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCTGCTCGAGGGCATGGAA	0.672									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													dbGAP											0													75.0	86.0	82.0					7																	42005234		2203	4298	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3437T>G	7.37:g.42005234A>C	ENSP00000379258:p.Leu1146Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1146R	ENST00000395925.3	37	c.3437	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521313	0.44866	.	.	ENSG00000106571	ENST00000395925	T	0.16457	2.34	5.67	4.54	0.55810	.	0.510318	0.21493	N	0.073655	T	0.12220	0.0297	L	0.39898	1.24	0.80722	D	1	B	0.20780	0.048	B	0.15870	0.014	T	0.13361	-1.0512	10	0.38643	T	0.18	.	4.3733	0.11258	0.7661:0.0:0.2339:0.0	.	1146	P10071	GLI3_HUMAN	R	1146	ENSP00000379258:L1146R	ENSP00000379258:L1146R	L	-	2	0	GLI3	41971759	1.000000	0.71417	0.986000	0.45419	0.910000	0.53928	4.652000	0.61454	2.155000	0.67459	0.460000	0.39030	CTC	GLI3	-	NULL	ENSG00000106571		0.672	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	36	0.00	0	A	NM_000168		42005234	42005234	-1	no_errors	ENST00000395925	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.975	C
GPRASP1	9737	genome.wustl.edu	37	X	101912271	101912271	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chrX:101912271T>G	ENST00000361600.5	+	5	4231	c.3430T>G	c.(3430-3432)Tgc>Ggc	p.C1144G	GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1144G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1144G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.C1144G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1144	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCCTGTAACTGCATACAATG	0.388																																						dbGAP											0													99.0	90.0	93.0					X																	101912271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3430T>G	X.37:g.101912271T>G	ENSP00000355146:p.Cys1144Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.C1144G	ENST00000361600.5	37	c.3430	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	T	5.597	0.294965	0.10622	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	2.74	2.74	0.32292	Armadillo-type fold (1);	.	.	.	.	T	0.46386	0.1390	M	0.75264	2.295	0.27649	N	0.947477	D	0.89917	1.0	D	0.87578	0.998	T	0.22452	-1.0216	9	0.87932	D	0	-3.6847	6.476	0.22037	0.0:0.0:0.0:1.0	.	1144	Q5JY77	GASP1_HUMAN	G	1144	ENSP00000393691:C1144G;ENSP00000409420:C1144G;ENSP00000355146:C1144G;ENSP00000445683:C1144G	ENSP00000355146:C1144G	C	+	1	0	GPRASP1	101798927	0.999000	0.42202	0.818000	0.32626	0.245000	0.25701	2.926000	0.48892	1.328000	0.45358	0.235000	0.17854	TGC	GPRASP1	-	superfamily_ARM-type_fold	ENSG00000198932		0.388	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	75	0.00	0	T	NM_014710		101912271	101912271	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	0.812	G
HSPG2	3339	genome.wustl.edu	37	1	22174305	22174305	+	Silent	SNP	G	G	A	rs371424140		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:22174305G>A	ENST00000374695.3	-	61	7981	c.7902C>T	c.(7900-7902)atC>atT	p.I2634I	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2634	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.I2634I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AAGACGACTCGATCCTGATCG	0.627																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											58.0	62.0	60.0					1																	22174305		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7902C>T	1.37:g.22174305G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.I2634	ENST00000374695.3	37	c.7902	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000142798		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	36	0.00	0	G	NM_005529		22174305	22174305	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	0.991	A
GRHL3	57822	genome.wustl.edu	37	1	24668645	24668645	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:24668645C>T	ENST00000350501.5	+	9	1215	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L	GRHL3_ENST00000342072.4_Missense_Mutation_p.S270L|GRHL3_ENST00000356046.2_Missense_Mutation_p.S317L|GRHL3_ENST00000361548.4_Missense_Mutation_p.S363L|GRHL3_ENST00000236255.4_Missense_Mutation_p.S368L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	363					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GACTTTTCCTCACAAAAGGGG	0.607																																						dbGAP											0													109.0	111.0	110.0					1																	24668645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1088C>T	1.37:g.24668645C>T	ENSP00000288955:p.Ser363Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S363L	ENST00000350501.5	37	c.1088	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787838	0.90367	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.65	5.65	0.86999	.	0.190930	0.46758	D	0.000272	T	0.22003	0.0530	L	0.57536	1.79	0.80722	D	1	P;P;P	0.36683	0.565;0.51;0.51	B;B;B	0.36845	0.234;0.23;0.23	T	0.01162	-1.1432	10	0.27785	T	0.31	-14.5765	18.891	0.92403	0.0:1.0:0.0:0.0	.	317;368;363	A2A297;Q8TE85-2;G3XAF0	.;.;.	L	363;270;363;317;368	ENSP00000354943:S363L;ENSP00000340543:S270L;ENSP00000288955:S363L;ENSP00000348333:S317L;ENSP00000236255:S368L	ENSP00000236255:S368L	S	+	2	0	GRHL3	24541232	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	5.912000	0.69948	2.941000	0.99782	0.655000	0.94253	TCA	GRHL3	-	pfam_CP2	ENSG00000158055		0.607	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	66	0.00	0	C	NM_021180		24668645	24668645	+1	no_errors	ENST00000350501	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	1.000	T
IGSF1	3547	genome.wustl.edu	37	X	130411977	130411977	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chrX:130411977G>T	ENST00000361420.3	-	13	2252	c.2173C>A	c.(2173-2175)Caa>Aaa	p.Q725K	IGSF1_ENST00000370904.1_Missense_Mutation_p.Q716K|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q716K|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q730K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	725	Ig-like C2-type 7.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCACCAAGTTGCTGGACAGGT	0.527																																						dbGAP											0													121.0	107.0	111.0					X																	130411977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2173C>A	X.37:g.130411977G>T	ENSP00000355010:p.Gln725Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q730K	ENST00000361420.3	37	c.2188	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	0.375	-0.932034	0.02359	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	4.88	4.88	0.63580	Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001169	T	0.10637	0.0260	L	0.41632	1.29	0.28210	N	0.926956	B;B;B	0.20052	0.003;0.011;0.041	B;B;B	0.22386	0.003;0.039;0.034	T	0.29027	-1.0025	10	0.02654	T	1	.	12.9346	0.58307	0.0:0.0:1.0:0.0	.	716;169;725	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	K	716;725;716;730	ENSP00000359947:Q716K;ENSP00000355010:Q725K;ENSP00000359941:Q716K;ENSP00000359940:Q730K	ENSP00000355010:Q725K	Q	-	1	0	IGSF1	130239658	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.221000	0.42917	2.354000	0.79902	0.594000	0.82650	CAA	IGSF1	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000147255		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	117	0.00	0	G			130411977	130411977	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	71	31.07	32	SNP	1.000	T
IQCG	84223	genome.wustl.edu	37	3	197659062	197659062	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr3:197659062G>A	ENST00000265239.6	-	6	1051	c.627C>T	c.(625-627)ttC>ttT	p.F209F	IQCG_ENST00000453254.1_Silent_p.F209F|IQCG_ENST00000455191.1_Silent_p.F209F	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	209						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATGTCATAGAAATGCATTT	0.393																																						dbGAP											0													184.0	176.0	179.0					3																	197659062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.627C>T	3.37:g.197659062G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BST2|Q9HAG8	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.F209	ENST00000265239.6	37	c.627	CCDS3331.1	3																																																																																			IQCG	-	NULL	ENSG00000114473		0.393	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	101	0.00	0	G	NM_032263		197659062	197659062	-1	no_errors	ENST00000265239	ensembl	human	known	69_37n	silent	59	68.28	127	SNP	0.999	A
IRAK1	3654	genome.wustl.edu	37	X	153282465	153282465	+	Silent	SNP	A	A	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chrX:153282465A>T	ENST00000369980.3	-	8	1130	c.963T>A	c.(961-963)ggT>ggA	p.G321G	IRAK1_ENST00000393687.2_Silent_p.G321G|IRAK1_ENST00000393682.1_Silent_p.G347G|IRAK1_ENST00000429936.2_Silent_p.G347G|IRAK1_ENST00000369974.2_Silent_p.G321G|IRAK1_ENST00000477274.1_5'UTR|MIR718_ENST00000390190.2_RNA	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGGCTGTACCCAGAAGGA	0.627																																						dbGAP											0													105.0	100.0	102.0					X																	153282465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.963T>A	X.37:g.153282465A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,superfamily_Kinase-like_dom	p.V309E	ENST00000369980.3	37	c.926	CCDS14740.1	X	.	.	.	.	.	.	.	.	.	.	.	12.42	1.931710	0.34096	.	.	ENSG00000184216	ENST00000443220	.	.	.	4.93	3.12	0.35913	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42865	-0.9426	4	.	.	.	-28.7863	4.9722	0.14121	0.1918:0.0:0.6424:0.1659	.	.	.	.	N	92	.	.	Y	-	1	0	IRAK1	152935659	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	0.597000	0.24059	0.312000	0.23038	-0.395000	0.06472	TAC	IRAK1	-	NULL	ENSG00000184216		0.627	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	97	0.00	0	A			153282465	153282465	-1	no_errors	ENST00000369973	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.998	T
KCNH1	3756	genome.wustl.edu	37	1	210948691	210948691	+	Splice_Site	SNP	C	C	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:210948691C>A	ENST00000271751.4	-	10	2138	c.2111G>T	c.(2110-2112)aGg>aTg	p.R704M	KCNH1_ENST00000367007.4_Splice_Site_p.R677M			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	704	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTAGCTCACCCTCTTCCTCAA	0.443																																						dbGAP											0													76.0	71.0	73.0					1																	210948691		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2112+1G>T	1.37:g.210948691C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R704M	ENST00000271751.4	37	c.2111	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817444	0.70912	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	T;T	0.17370	2.28;2.28	5.36	5.36	0.76844	.	0.042730	0.85682	D	0.000000	T	0.46502	0.1396	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.48445	-0.9035	10	0.87932	D	0	.	19.0974	0.93258	0.0:1.0:0.0:0.0	.	677;704	Q14CL3;O95259	.;KCNH1_HUMAN	M	704;677	ENSP00000271751:R704M;ENSP00000355974:R677M	ENSP00000271751:R704M	R	-	2	0	KCNH1	209015314	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	7.538000	0.82048	2.506000	0.84524	0.555000	0.69702	AGG	KCNH1	-	prints_K_chnl_volt-dep_EAG	ENSG00000143473		0.443	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	90	0.00	0	C	NM_002238	Missense_Mutation	210948691	210948691	-1	no_errors	ENST00000271751	ensembl	human	known	69_37n	missense	60	25.00	20	SNP	1.000	A
KLHL36	79786	genome.wustl.edu	37	16	84690716	84690716	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr16:84690716G>A	ENST00000564996.1	+	3	444	c.303G>A	c.(301-303)gtG>gtA	p.V101V	KLHL36_ENST00000258157.5_Silent_p.V101V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	101	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGCCGTGGTGGACTTCCTGT	0.592																																						dbGAP											0													80.0	73.0	75.0					16																	84690716		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.303G>A	16.37:g.84690716G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5G6|Q9H9U6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V101	ENST00000564996.1	37	c.303	CCDS10948.1	16																																																																																			KLHL36	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000135686		0.592	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	62	0.00	0	G			84690716	84690716	+1	no_errors	ENST00000564996	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	1.000	A
LDB1	8861	genome.wustl.edu	37	10	103867910	103867910	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr10:103867910G>A	ENST00000425280.1	-	11	1518	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Silent_p.S356S	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	392					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ACGGAGGCTTGCTGTTCCAGG	0.612																																						dbGAP											0													200.0	180.0	187.0					10																	103867910		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1176C>T	10.37:g.103867910G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	NULL	p.S392	ENST00000425280.1	37	c.1176	CCDS44472.1	10																																																																																			LDB1	-	NULL	ENSG00000198728		0.612	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		92	0.00	0	G	NM_001113407		103867910	103867910	-1	no_errors	ENST00000425280	ensembl	human	known	69_37n	silent	53	32.91	26	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49426774	49426774	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr12:49426774T>A	ENST00000301067.7	-	39	11713	c.11714A>T	c.(11713-11715)cAg>cTg	p.Q3905L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3905	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ctgttgcagctgctgctgctg	0.562																																						dbGAP											0													11.0	15.0	14.0					12																	49426774		1761	3258	5019	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11714A>T	12.37:g.49426774T>A	ENSP00000301067:p.Gln3905Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3905L	ENST00000301067.7	37	c.11714	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	1.076	-0.668547	0.03403	.	.	ENSG00000167548	ENST00000301067	D	0.91237	-2.81	4.42	3.23	0.37069	.	.	.	.	.	T	0.80433	0.4622	N	0.08118	0	0.19775	N	0.999956	B	0.12630	0.006	B	0.08055	0.003	T	0.71244	-0.4650	9	0.87932	D	0	.	9.494	0.38978	0.1586:0.0:0.0:0.8414	.	3905	O14686	MLL2_HUMAN	L	3905	ENSP00000301067:Q3905L	ENSP00000301067:Q3905L	Q	-	2	0	MLL2	47713041	0.985000	0.35326	0.779000	0.31741	0.321000	0.28281	2.346000	0.44027	0.789000	0.33779	0.533000	0.62120	CAG	MLL2	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	45	0.00	0	T			49426774	49426774	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.688	A
MYH14	79784	genome.wustl.edu	37	19	50753006	50753006	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr19:50753006C>T	ENST00000596571.1	+	12	1558	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	MYH14_ENST00000425460.1_Missense_Mutation_p.R528C|MYH14_ENST00000440075.2_Missense_Mutation_p.R528C|MYH14_ENST00000262269.8_Missense_Mutation_p.R528C|MYH14_ENST00000376970.2_Missense_Mutation_p.R520C|MYH14_ENST00000601313.1_Missense_Mutation_p.R528C|MYH14_ENST00000598205.1_Missense_Mutation_p.R528C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	520	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGTACCAGCGTGAGGGCAT	0.622																																						dbGAP											0													180.0	151.0	161.0					19																	50753006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1558C>T	19.37:g.50753006C>T	ENSP00000472819:p.Arg520Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R528C	ENST00000596571.1	37	c.1582	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104209	0.76983	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.37	4.37	0.52481	Myosin head, motor domain (2);	.	.	.	.	D	0.91106	0.7200	H	0.98646	4.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.976;0.984;0.959	D	0.94214	0.7461	9	0.87932	D	0	.	14.7979	0.69891	0.0:1.0:0.0:0.0	.	528;520;528	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	520;528;520;528;520;528	ENSP00000406273:R528C;ENSP00000366169:R520C;ENSP00000407879:R528C;ENSP00000262269:R528C	ENSP00000262269:R528C	R	+	1	0	MYH14	55444818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.969000	0.40510	2.429000	0.82318	0.655000	0.94253	CGT	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	108	0.00	0	C	NM_024729		50753006	50753006	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	112	17.65	24	SNP	1.000	T
N4BP2	55728	genome.wustl.edu	37	4	40144366	40144366	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr4:40144366A>T	ENST00000261435.6	+	15	5275	c.4859A>T	c.(4858-4860)gAt>gTt	p.D1620V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1620					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCAGACTATGATGACTACAGA	0.408																																						dbGAP											0													105.0	104.0	105.0					4																	40144366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4859A>T	4.37:g.40144366A>T	ENSP00000261435:p.Asp1620Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.D1620V	ENST00000261435.6	37	c.4859	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.20|19.20	3.782225|3.782225	0.70222|0.70222	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.20332|.	2.08|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Domain of unknown function DUF1771 (1);|.	0.279559|.	0.34046|.	N|.	0.004302|.	T|.	0.74245|.	0.3691|.	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.992;0.994|.	D;D|.	0.67548|.	0.92;0.952|.	T|.	0.75246|.	-0.3385|.	10|.	0.66056|.	D|.	0.02|.	-6.9381|-6.9381	15.1319|15.1319	0.72530|0.72530	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1603;1620|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	V|C	1620;1540|1249	ENSP00000261435:D1620V|.	ENSP00000261435:D1620V|.	D|X	+|+	2|3	0|0	N4BP2|N4BP2	39820761|39820761	1.000000|1.000000	0.71417|0.71417	0.534000|0.534000	0.28014|0.28014	0.401000|0.401000	0.30781|0.30781	6.699000|6.699000	0.74613|0.74613	1.969000|1.969000	0.57287|0.57287	0.379000|0.379000	0.24179|0.24179	GAT|TGA	N4BP2	-	pfam_DUF1771	ENSG00000078177		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	58	0.00	0	A	NM_018177		40144366	40144366	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	missense	35	25.53	12	SNP	1.000	T
NADSYN1	55191	genome.wustl.edu	37	11	71185527	71185527	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr11:71185527C>T	ENST00000319023.2	+	9	941	c.753C>T	c.(751-753)aaC>aaT	p.N251N	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	251	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTGCCATGAACGGAAGCGTCT	0.562																																					Ovarian(79;763 1781 6490 50276)	dbGAP											0													161.0	142.0	148.0					11																	71185527		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.753C>T	11.37:g.71185527C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.T218M	ENST00000319023.2	37	c.653	CCDS8201.1	11																																																																																			NADSYN1	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000172890		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	88	0.00	0	C	NM_018161		71185527	71185527	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525200	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	0.994	T
NEFH	4744	genome.wustl.edu	37	22	29885829	29885829	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr22:29885829G>A	ENST00000310624.6	+	4	2233	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	740	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAAGACCCCCGAGAAGGCCAA	0.542																																						dbGAP											0													102.0	106.0	105.0					22																	29885829		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2200G>A	22.37:g.29885829G>A	ENSP00000311997:p.Glu734Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E734K	ENST00000310624.6	37	c.2200	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	6.250	0.414310	0.11870	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82893	-1.66	4.12	3.06	0.35304	.	0.000000	0.52532	D	0.000074	T	0.77157	0.4089	L	0.49640	1.575	0.30204	N	0.798379	B	0.23058	0.079	B	0.12156	0.007	T	0.74870	-0.3517	10	0.62326	D	0.03	.	11.5751	0.50856	0.0:0.1826:0.8173:0.0	.	740	P12036	NFH_HUMAN	K	734	ENSP00000311997:E734K	ENSP00000311997:E734K	E	+	1	0	NEFH	28215829	0.000000	0.05858	0.107000	0.21349	0.094000	0.18550	0.708000	0.25719	1.017000	0.39495	0.436000	0.28706	GAG	NEFH	-	NULL	ENSG00000100285		0.542	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	79	0.00	0	G	NM_021076		29885829	29885829	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	0.848	A
NRCAM	4897	genome.wustl.edu	37	7	107820770	107820770	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr7:107820770C>T	ENST00000425651.2	-	22	2747	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	NRCAM_ENST00000413765.2_Silent_p.P897P|NRCAM_ENST00000379028.3_Silent_p.P916P|NRCAM_ENST00000379024.4_Silent_p.P897P|NRCAM_ENST00000379022.4_Silent_p.P916P|NRCAM_ENST00000351718.4_Silent_p.P900P	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	916	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GCTCTAGCCCCGGCAACATGC	0.493																																						dbGAP											0													99.0	86.0	90.0					7																	107820770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2748G>A	7.37:g.107820770C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P916	ENST00000425651.2	37	c.2748	CCDS47686.1	7																																																																																			NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000091129		0.493	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	59	0.00	0	C	NM_001037132		107820770	107820770	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	silent	54	16.92	11	SNP	0.002	T
NXPH4	11247	genome.wustl.edu	37	12	57619524	57619524	+	Silent	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr12:57619524C>T	ENST00000349394.5	+	2	1096	c.921C>T	c.(919-921)ttC>ttT	p.F307F	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	307	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						ACCCCTACTTCGGATAGCGCC	0.562																																						dbGAP											0													35.0	40.0	38.0					12																	57619524		2181	4281	6462	-	-	-	SO:0001819	synonymous_variant	0			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.921C>T	12.37:g.57619524C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	pirsf_Neurexophilin	p.F307	ENST00000349394.5	37	c.921	CCDS8933.1	12																																																																																			NXPH4	-	pirsf_Neurexophilin	ENSG00000182379		0.562	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH4	HGNC	protein_coding	OTTHUMT00000412474.1	14	0.00	0	C	NM_007224		57619524	57619524	+1	no_errors	ENST00000349394	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.669	T
OR11L1	391189	genome.wustl.edu	37	1	248004332	248004332	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:248004332G>C	ENST00000355784.2	-	1	922	c.867C>G	c.(865-867)atC>atG	p.I289M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	289						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCAAGCTGTAGATAACTGGGT	0.418																																						dbGAP											0													93.0	87.0	89.0					1																	248004332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.867C>G	1.37:g.248004332G>C	ENSP00000348033:p.Ile289Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I289M	ENST00000355784.2	37	c.867	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437547	0.43224	.	.	ENSG00000197591	ENST00000355784	T	0.57273	0.41	4.15	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34906	U	0.003581	T	0.66587	0.2804	M	0.80183	2.485	0.28293	N	0.923462	D	0.89917	1.0	D	0.80764	0.994	T	0.58434	-0.7637	10	0.87932	D	0	.	4.2999	0.10920	0.2674:0.0:0.5645:0.1681	.	289	Q8NGX0	O11L1_HUMAN	M	289	ENSP00000348033:I289M	ENSP00000348033:I289M	I	-	3	3	OR11L1	246070955	0.020000	0.18652	0.974000	0.42286	0.899000	0.52679	-0.359000	0.07632	1.091000	0.41335	0.543000	0.68304	ATC	OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000197591		0.418	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	48	0.00	0	G	NM_001001959		248004332	248004332	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	65	26.14	23	SNP	0.999	C
OR11L1	391189	genome.wustl.edu	37	1	248004656	248004656	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:248004656G>A	ENST00000355784.2	-	1	598	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	181						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGTGGCGGGAGGTCGCAGA	0.507																																						dbGAP											0													91.0	96.0	94.0					1																	248004656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.543C>T	1.37:g.248004656G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L181	ENST00000355784.2	37	c.543	CCDS31098.1	1																																																																																			OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000197591		0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	36	0.00	0	G	NM_001001959		248004656	248004656	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	silent	30	18.92	7	SNP	0.792	A
OR11L1	391189	genome.wustl.edu	37	1	248004829	248004829	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:248004829G>C	ENST00000355784.2	-	1	425	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	124						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGATGGCCAGGTAACGGTCA	0.597																																						dbGAP											0													47.0	42.0	43.0					1																	248004829		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.370C>G	1.37:g.248004829G>C	ENSP00000348033:p.Leu124Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L124V	ENST00000355784.2	37	c.370	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	3.481	-0.105818	0.06924	.	.	ENSG00000197591	ENST00000355784	T	0.02067	4.47	4.42	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29403	U	0.012241	T	0.01092	0.0036	N	0.03115	-0.41	0.20489	N	0.999894	P	0.37207	0.587	B	0.40702	0.338	T	0.43734	-0.9373	10	0.02654	T	1	.	7.0204	0.24910	0.172:0.1816:0.6464:0.0	.	124	Q8NGX0	O11L1_HUMAN	V	124	ENSP00000348033:L124V	ENSP00000348033:L124V	L	-	1	2	OR11L1	246071452	0.004000	0.15560	0.592000	0.28758	0.070000	0.16714	-0.321000	0.08018	0.608000	0.30000	-0.300000	0.09419	CTG	OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197591		0.597	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	21	0.00	0	G	NM_001001959		248004829	248004829	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.416	C
OR2L5	81466	genome.wustl.edu	37	1	248185954	248185954	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr1:248185954G>T	ENST00000355281.1	+	1	705	c.705G>T	c.(703-705)aaG>aaT	p.K235N	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1	Q8NG80	OR2L5_HUMAN	olfactory receptor, family 2, subfamily L, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GGAGGAAAAAGGCCTATTCGA	0.498																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS58068.1	1q44	2012-08-09		2004-03-10	ENSG00000197454	ENSG00000197454		"""GPCR / Class A : Olfactory receptors"""	15011	protein-coding gene	gene with protein product				OR2L11, OR2L5P			Standard	NM_001258284		Approved		uc031psy.1	Q8NG80	OTTHUMG00000040194	ENST00000355281.1:c.705G>T	1.37:g.248185954G>T	ENSP00000347428:p.Lys235Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF04	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K235N	ENST00000355281.1	37	c.705	CCDS58068.1	1	.	.	.	.	.	.	.	.	.	.	.	8.916	0.959782	0.18507	.	.	ENSG00000197454	ENST00000355281	T	0.00374	7.72	2.17	-2.59	0.06209	.	0.254375	0.20119	U	0.098860	T	0.00271	0.0008	.	.	.	0.29634	N	0.845199	.	.	.	.	.	.	T	0.45381	-0.9265	7	0.72032	D	0.01	.	3.2458	0.06797	0.4328:0.0:0.3782:0.189	.	.	.	.	N	235	ENSP00000347428:K235N	ENSP00000347428:K235N	K	+	3	2	OR2L5	246252577	0.783000	0.28701	0.048000	0.18961	0.078000	0.17371	-0.213000	0.09305	-0.401000	0.07644	0.184000	0.17185	AAG	OR2L5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000197454		0.498	OR2L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L5	HGNC	protein_coding	OTTHUMT00000096851.1	74	0.00	0	G			248185954	248185954	+1	no_errors	ENST00000355281	ensembl	human	known	69_37n	missense	115	11.54	15	SNP	0.967	T
OXSM	54995	genome.wustl.edu	37	3	25833460	25833460	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr3:25833460C>A	ENST00000280701.3	+	2	1048	c.949C>A	c.(949-951)Cct>Act	p.P317T	OXSM_ENST00000420173.2_Missense_Mutation_p.P234T|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	317					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CATAACTGCCCCTGATCCTGA	0.428																																						dbGAP											0													77.0	82.0	80.0					3																	25833460		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.949C>A	3.37:g.25833460C>A	ENSP00000280701:p.Pro317Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.P317T	ENST00000280701.3	37	c.949	CCDS2643.1	3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516287	0.85495	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	6.05	6.05	0.98169	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.098437	0.64402	D	0.000001	D	0.89347	0.6689	H	0.94658	3.565	0.43036	D	0.994613	D;D	0.76494	0.997;0.999	D;D	0.72625	0.976;0.978	D	0.91223	0.5008	9	0.87932	D	0	-20.2326	20.6013	0.99457	0.0:1.0:0.0:0.0	.	234;317	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	T	317;234	.	ENSP00000280701:P317T	P	+	1	0	OXSM	25808464	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.786000	0.85741	2.878000	0.98634	0.650000	0.86243	CCT	OXSM	-	pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	ENSG00000151093		0.428	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	HGNC	protein_coding	OTTHUMT00000252876.2	20	0.00	0	C	NM_017897		25833460	25833460	+1	no_errors	ENST00000280701	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	A
PALB2	79728	genome.wustl.edu	37	16	23614905	23614905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr16:23614905G>A	ENST00000261584.4	-	13	3588	c.3436C>T	c.(3436-3438)Cag>Tag	p.Q1146*	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1146	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GCAGTACACTGACCGAGAAGT	0.468			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													112.0	97.0	102.0					16																	23614905		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3436C>T	16.37:g.23614905G>A	ENSP00000261584:p.Gln1146*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.Q1146*	ENST00000261584.4	37	c.3436	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.376623	0.98784	.	.	ENSG00000083093	ENST00000261584	.	.	.	5.77	5.77	0.91146	.	0.440472	0.24318	N	0.039577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.7794	17.4758	0.87658	0.0:0.0:1.0:0.0	.	.	.	.	X	1146	.	ENSP00000261584:Q1146X	Q	-	1	0	PALB2	23522406	0.965000	0.33210	0.513000	0.27749	0.654000	0.38779	4.064000	0.57506	2.737000	0.93849	0.561000	0.74099	CAG	PALB2	-	superfamily_WD40_repeat_dom	ENSG00000083093		0.468	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	50	0.00	0	G	NM_024675		23614905	23614905	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	nonsense	25	19.35	6	SNP	0.980	A
PHYHIP	9796	genome.wustl.edu	37	8	22084434	22084434	+	Silent	SNP	C	C	T	rs368939225		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr8:22084434C>T	ENST00000321613.3	-	4	726	c.270G>A	c.(268-270)acG>acA	p.T90T	PHYHIP_ENST00000454243.2_Silent_p.T90T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	90	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCTTCACTGCCGTCTGCACGG	0.657																																						dbGAP											0													79.0	95.0	90.0					8																	22084434		2173	4251	6424	-	-	-	SO:0001819	synonymous_variant	0			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.270G>A	8.37:g.22084434C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSR1|Q8N4I9	Silent	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.T90	ENST00000321613.3	37	c.270	CCDS43723.1	8																																																																																			PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168490		0.657	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	47	0.00	0	C	NM_014759		22084434	22084434	-1	no_errors	ENST00000454243	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	0.764	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	64	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	41	54.95	50	SNP	1.000	G
PMEL	6490	genome.wustl.edu	37	12	56351845	56351845	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr12:56351845C>T	ENST00000548747.1	-	5	1155	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.G165S|PMEL_ENST00000550464.1_Missense_Mutation_p.G79S|PMEL_ENST00000449260.2_Missense_Mutation_p.G165S|PMEL_ENST00000539511.1_Missense_Mutation_p.G79S|PMEL_ENST00000552882.1_Missense_Mutation_p.G165S|PMEL_ENST00000536427.1_Missense_Mutation_p.G165S|PMEL_ENST00000548493.1_Missense_Mutation_p.G165S			P40967	PMEL_HUMAN	premelanosome protein	165					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACACTGGGCCCCCTAGAACT	0.547																																						dbGAP											0													62.0	58.0	59.0					12																	56351845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.493G>A	12.37:g.56351845C>T	ENSP00000448828:p.Gly165Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.G165S	ENST00000548747.1	37	c.493	CCDS8897.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272352|5.272352	0.95429|0.95429	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000549404|ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543	T|T;T;T;T;T;T;T;T;T	0.09163|0.13420	3.01|2.89;2.9;2.88;2.9;2.9;2.87;2.59;2.88;2.97	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000043|0.000043	T|T	0.39145|0.39145	0.1067|0.1067	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.995;0.998	T|T	0.12915|0.12915	-1.0529|-1.0529	8|10	0.46703|0.62326	T|D	0.11|0.03	.|.	17.5769|17.5769	0.87952|0.87952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|79;165;165	.|P40967-3;P40967-2;P40967	.|.;.;PMEL_HUMAN	E|S	52|165;165;79;165;165;165;165;79;116	ENSP00000449520:G52E|ENSP00000402758:G165S;ENSP00000449690:G165S;ENSP00000450036:G79S;ENSP00000448828:G165S;ENSP00000447374:G165S;ENSP00000353940:G165S;ENSP00000438695:G165S;ENSP00000445005:G79S;ENSP00000446662:G116S	ENSP00000449520:G52E|ENSP00000353940:G165S	G|G	-|-	2|1	0|0	PMEL|PMEL	54638112|54638112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.890000|6.890000	0.75633|0.75633	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGG|GGC	PMEL	-	NULL	ENSG00000185664		0.547	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	54	0.00	0	C	NM_006928		56351845	56351845	-1	no_errors	ENST00000360714	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	T
PNPT1	87178	genome.wustl.edu	37	2	55870522	55870522	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr2:55870522C>T	ENST00000447944.2	-	24	2031	c.1945G>A	c.(1945-1947)Gta>Ata	p.V649I		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	649	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGTGCAAATACAGAAAACGTT	0.358																																						dbGAP											0													142.0	133.0	136.0					2																	55870522		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1945G>A	2.37:g.55870522C>T	ENSP00000400646:p.Val649Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.V649I	ENST00000447944.2	37	c.1945	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	3.431	-0.116021	0.06881	.	.	ENSG00000138035	ENST00000447944	T	0.18174	2.23	5.41	-3.67	0.04476	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.416196	0.25450	N	0.030587	T	0.09024	0.0223	N	0.26130	0.795	0.35762	D	0.820212	B	0.06786	0.001	B	0.10450	0.005	T	0.48258	-0.9051	10	0.02654	T	1	-3.7176	14.9044	0.70706	0.0:0.3291:0.0:0.6709	.	649	Q8TCS8	PNPT1_HUMAN	I	649	ENSP00000400646:V649I	ENSP00000393953:V649I	V	-	1	0	PNPT1	55724026	0.888000	0.30383	0.708000	0.30435	0.940000	0.58332	0.563000	0.23547	-1.315000	0.02297	-0.373000	0.07131	GTA	PNPT1	-	pfam_KH_dom_type_1,smart_KH_dom,pirsf_PNPase,pfscan_KH_dom_type_1,tigrfam_PNPase	ENSG00000138035		0.358	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	110	0.00	0	C	NM_033109		55870522	55870522	-1	no_errors	ENST00000415374	ensembl	human	known	69_37n	missense	94	30.37	41	SNP	0.541	T
RBM26	64062	genome.wustl.edu	37	13	79896574	79896574	+	Silent	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr13:79896574G>A	ENST00000438737.2	-	21	3284	c.2844C>T	c.(2842-2844)ttC>ttT	p.F948F	RBM26_ENST00000438724.1_Silent_p.F924F|RBM26_ENST00000267229.7_Silent_p.F921F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	948	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTTGCCCTTTGAAACGAGCTC	0.318																																						dbGAP											0													109.0	105.0	107.0					13																	79896574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2844C>T	13.37:g.79896574G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.F948	ENST00000438737.2	37	c.2844		13																																																																																			RBM26	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000139746		0.318	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	110	0.00	0	G	NM_022118		79896574	79896574	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	silent	63	25.88	22	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78358925	78358925	+	Silent	SNP	A	A	G			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr17:78358925A>G	ENST00000582970.1	+	60	14552	c.14409A>G	c.(14407-14409)caA>caG	p.Q4803Q	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.Q4852Q|RNF213_ENST00000336301.6_Silent_p.Q2876Q|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4803					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCCAGCAAGTTGAATACA	0.537																																						dbGAP											0													102.0	88.0	92.0					17																	78358925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14409A>G	17.37:g.78358925A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q4803	ENST00000582970.1	37	c.14409	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	60	0.00	0	A	NM_020914		78358925	78358925	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	34	30.61	15	SNP	0.002	G
SLC17A5	26503	genome.wustl.edu	37	6	74346398	74346398	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr6:74346398G>C	ENST00000355773.5	-	5	914	c.646C>G	c.(646-648)Ctt>Gtt	p.L216V	SLC17A5_ENST00000393019.3_3'UTR|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	216					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTCCAGAAAGAGGAAGAGAA	0.299																																						dbGAP											0													68.0	76.0	73.0					6																	74346398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.646C>G	6.37:g.74346398G>C	ENSP00000348019:p.Leu216Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L216V	ENST00000355773.5	37	c.646	CCDS4981.1	6	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763952	0.49574	.	.	ENSG00000119899	ENST00000355773	T	0.61274	0.12	5.63	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.066654	0.64402	D	0.000008	T	0.33702	0.0872	L	0.38838	1.175	0.80722	D	1	B;B	0.31655	0.334;0.243	B;B	0.38225	0.268;0.095	T	0.29336	-1.0015	10	0.35671	T	0.21	.	7.1051	0.25358	0.1411:0.1487:0.7102:0.0	.	278;216	E1P537;Q9NRA2	.;S17A5_HUMAN	V	216	ENSP00000348019:L216V	ENSP00000348019:L216V	L	-	1	0	SLC17A5	74403119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.025000	0.41059	2.664000	0.90586	0.591000	0.81541	CTT	SLC17A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.299	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1	34	0.00	0	G			74346398	74346398	-1	no_errors	ENST00000355773	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	C
SLC27A5	10998	genome.wustl.edu	37	19	59021339	59021339	+	Missense_Mutation	SNP	C	C	T	rs371102258		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr19:59021339C>T	ENST00000263093.2	-	3	1041	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R227Q	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	311					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGCAGTACCCGCTCATGCGT	0.582																																						dbGAP											0													156.0	106.0	123.0					19																	59021339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.932G>A	19.37:g.59021339C>T	ENSP00000263093:p.Arg311Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R311Q	ENST00000263093.2	37	c.932	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	5.681	0.310176	0.10733	.	.	ENSG00000083807	ENST00000263093	T	0.48522	0.81	4.71	-2.58	0.06228	AMP-dependent synthetase/ligase (1);	1.147830	0.06728	N	0.776179	T	0.50837	0.1639	M	0.68952	2.095	0.09310	N	1	D	0.54397	0.966	P	0.49953	0.627	T	0.52660	-0.8546	10	0.32370	T	0.25	-8.8258	8.7394	0.34547	0.0:0.3454:0.0:0.6546	.	311	Q9Y2P5	S27A5_HUMAN	Q	311	ENSP00000263093:R311Q	ENSP00000263093:R311Q	R	-	2	0	SLC27A5	63713151	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	0.044000	0.13992	-0.218000	0.10018	-0.350000	0.07774	CGG	SLC27A5	-	pfam_AMP-dep_Synth/Lig	ENSG00000083807		0.582	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	56	0.00	0	C	NM_012254		59021339	59021339	-1	no_errors	ENST00000263093	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.000	T
ST6GALNAC6	30815	genome.wustl.edu	37	9	130656839	130656839	+	Silent	SNP	G	G	C			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr9:130656839G>C	ENST00000373146.1	-	4	428	c.249C>G	c.(247-249)ctC>ctG	p.L83L	ST6GALNAC6_ENST00000373141.1_Silent_p.L49L|ST6GALNAC6_ENST00000542456.1_Nonsense_Mutation_p.S19*|ST6GALNAC6_ENST00000373142.1_Silent_p.L83L|ST6GALNAC6_ENST00000373144.3_Silent_p.L49L|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.L83L			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	83					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCACTTCTTGAGGTTGACAG	0.587																																						dbGAP											0													106.0	103.0	104.0					9																	130656839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.249C>G	9.37:g.130656839G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.S19*	ENST00000373146.1	37	c.56	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909493	0.92107	.	.	ENSG00000160408	ENST00000542456	.	.	.	5.13	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-13.646	10.2017	0.43087	0.0884:0.1504:0.7611:0.0	.	.	.	.	X	19	.	ENSP00000438109:S19X	S	-	2	0	ST6GALNAC6	129696660	0.997000	0.39634	1.000000	0.80357	0.915000	0.54546	0.212000	0.17497	1.170000	0.42753	0.650000	0.86243	TCA	ST6GALNAC6	-	NULL	ENSG00000160408		0.587	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	46	0.00	0	G	NM_013443		130656839	130656839	-1	no_errors	ENST00000542456	ensembl	human	known	69_37n	nonsense	25	30.56	11	SNP	1.000	C
TFDP1	7027	genome.wustl.edu	37	13	114292199	114292199	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr13:114292199G>A	ENST00000375370.5	+	11	1285	c.1073G>A	c.(1072-1074)aGg>aAg	p.R358K	TFDP1_ENST00000538138.1_Splice_Site_p.S263N|TFDP1_ENST00000544902.1_Missense_Mutation_p.R329K	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	358					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R358M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACGGCACAAGGTTCTCTGCC	0.587										TSP Lung(29;0.18)																												dbGAP											1	Substitution - Missense(1)	breast(1)											113.0	99.0	104.0					13																	114292199		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1073G>A	13.37:g.114292199G>A	ENSP00000364519:p.Arg358Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.R358K	ENST00000375370.5	37	c.1073	CCDS9538.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.814|9.814	1.183924|1.183924	0.21870|0.21870	.|.	.|.	ENSG00000198176|ENSG00000198176	ENST00000375370;ENST00000544902|ENST00000538138	T;T|T	0.52754|0.44482	2.0;0.65|0.92	4.64|4.64	3.79|3.79	0.43588|0.43588	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.70275|0.70275	2.135|2.135	0.29422|0.29422	N|N	0.860454|0.860454	P;B|B	0.52170|0.09022	0.951;0.329|0.002	P;B|B	0.46362|0.10450	0.514;0.077|0.005	T|T	0.37174|0.37174	-0.9717|-0.9717	10|9	0.06099|0.26408	T|T	0.92|0.33	.|.	11.8725|11.8725	0.52529|0.52529	0.0857:0.0:0.9143:0.0|0.0857:0.0:0.9143:0.0	.|.	329;358|263	F5H452;Q14186|B4DLQ9	.;TFDP1_HUMAN|.	K|N	358;329|263	ENSP00000364519:R358K;ENSP00000438450:R329K|ENSP00000443878:S263N	ENSP00000364519:R358K|ENSP00000443878:S263N	R|S	+|+	2|2	0|0	TFDP1|TFDP1	113340200|113340200	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.080000|0.080000	0.17528|0.17528	5.465000|5.465000	0.66725|0.66725	1.061000|1.061000	0.40601|0.40601	0.561000|0.561000	0.74099|0.74099	AGG|AGT	TFDP1	-	pirsf_Transcription_factor_DP_subgr	ENSG00000198176		0.587	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	77	0.00	0	G	NM_007111		114292199	114292199	+1	no_errors	ENST00000375370	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	61	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	22	47.62	20	SNP	0.864	T
XPO1	7514	genome.wustl.edu	37	2	61719472	61719472	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr2:61719472C>T	ENST00000401558.2	-	15	2438	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	XPO1_ENST00000404992.2_Missense_Mutation_p.E571K|XPO1_ENST00000406957.1_Missense_Mutation_p.E571K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	571	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.E571K(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGCATGAATTCGAACAGCTTG	0.313			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|prostate(1)|endometrium(1)											66.0	63.0	64.0					2																	61719472		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1711G>A	2.37:g.61719472C>T	ENSP00000384863:p.Glu571Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E571K	ENST00000401558.2	37	c.1711	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.629400	0.96671	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88632	0.3170	10	0.66056	D	0.02	-19.4383	20.0572	0.97657	0.0:1.0:0.0:0.0	.	218;571	B3KWD0;O14980	.;XPO1_HUMAN	K	571	ENSP00000384863:E571K;ENSP00000385942:E571K;ENSP00000385559:E571K	ENSP00000384863:E571K	E	-	1	0	XPO1	61572976	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.722000	0.84778	2.826000	0.97356	0.655000	0.94253	GAA	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	60	0.00	0	C	NM_003400		61719472	61719472	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	36	33.33	18	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179436920	179436920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr2:179436920G>A	ENST00000591111.1	-	276	69240	c.69016C>T	c.(69016-69018)Cga>Tga	p.R23006*	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R22079*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R15707*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R15582*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R15774*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R24647*|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23006	Fibronectin type-III 67. {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)			CCTAGAATTCGGCTGCCTCCA	0.468																																						dbGAP											0													86.0	82.0	84.0					2																	179436920		2056	4207	6263	-	-	-	SO:0001587	stop_gained	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.69016C>T	2.37:g.179436920G>A	ENSP00000465570:p.Arg23006*	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	Nonsense_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.R22079*	ENST00000591111.1	37	c.66235		2	.	.	.	.	.	.	.	.	.	.	G	63	72.077575	0.99992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.141	0.65320	0.0:0.0:0.5625:0.4374	.	.	.	.	X	22079;15582;15774;15707;15580	.	ENSP00000340554:R15774X	R	-	1	2	TTN	179145166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.320000	0.51991	1.517000	0.48917	0.650000	0.86243	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	96	0.00	0	G	NM_133378		179436920	179436920	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	nonsense	54	18.18	12	SNP	1.000	A
ZC3H12C	85463	genome.wustl.edu	37	11	110030002	110030002	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A203-01A-12D-A167-09	TCGA-BH-A203-11A-42D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	128b9209-2201-428c-87e7-65690bfe3875	b62e3943-6354-4309-881b-3f1f10ecb1fd	g.chr11:110030002T>A	ENST00000278590.3	+	4	986	c.935T>A	c.(934-936)tTa>tAa	p.L312*	ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.L313*|ZC3H12C_ENST00000453089.2_Nonsense_Mutation_p.L281*	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	312							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTACGTAAATTAGAGAAGGAG	0.443																																						dbGAP											0													38.0	39.0	39.0					11																	110030002		2065	4231	6296	-	-	-	SO:0001587	stop_gained	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.935T>A	11.37:g.110030002T>A	ENSP00000278590:p.Leu312*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI65|B4DR47	Nonsense_Mutation	SNP	pfam_RNase_Zc3h12	p.L312*	ENST00000278590.3	37	c.935	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	T	44	10.807854	0.99470	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1273	16.2484	0.82467	0.0:0.0:0.0:1.0	.	.	.	.	X	312;313;281	.	ENSP00000278590:L312X	L	+	2	0	ZC3H12C	109535212	0.985000	0.35326	0.540000	0.28089	0.398000	0.30690	7.997000	0.88414	2.291000	0.77112	0.533000	0.62120	TTA	ZC3H12C	-	pfam_RNase_Zc3h12	ENSG00000149289		0.443	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	41	0.00	0	T	NM_033390		110030002	110030002	+1	no_errors	ENST00000278590	ensembl	human	known	69_37n	nonsense	30	14.29	5	SNP	0.700	A
