#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AFF2	2334	genome.wustl.edu	37	X	148037578	148037578	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chrX:148037578G>T	ENST00000370460.2	+	11	2482	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	AFF2_ENST00000370457.5_Missense_Mutation_p.R635I|AFF2_ENST00000342251.3_Missense_Mutation_p.R635I|AFF2_ENST00000286437.5_Missense_Mutation_p.R309I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	668					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R668T(2)|p.R309T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCACCAAGAGGCCGCAAC	0.517																																						dbGAP											3	Substitution - Missense(3)	lung(3)											84.0	89.0	87.0					X																	148037578		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2003G>T	X.37:g.148037578G>T	ENSP00000359489:p.Arg668Ile		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R668I	ENST00000370460.2	37	c.2003	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915900	0.73098	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.67	3.87	0.44632	.	0.113755	0.64402	D	0.000010	T	0.66187	0.2764	L	0.50333	1.59	0.47659	D	0.999485	D;D;D;D;D;D	0.60575	0.988;0.985;0.985;0.985;0.985;0.988	P;P;P;P;P;P	0.62298	0.9;0.838;0.838;0.838;0.838;0.9	T	0.67538	-0.5645	10	0.62326	D	0.03	.	5.1863	0.15185	0.3812:0.0:0.6188:0.0	.	309;633;635;629;658;668	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	668;635;635;309	ENSP00000359489:R668I;ENSP00000359486:R635I;ENSP00000345459:R635I;ENSP00000286437:R309I	ENSP00000286437:R309I	R	+	2	0	AFF2	147845278	1.000000	0.71417	0.970000	0.41538	0.954000	0.61252	3.768000	0.55295	2.372000	0.80975	0.600000	0.82982	AGA	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	151	0.65	1	G	NM_002025		148037578	148037578	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	79	42.75	59	SNP	0.997	T
APOB	338	genome.wustl.edu	37	2	21224835	21224835	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr2:21224835delT	ENST00000233242.1	-	29	13586	c.13459delA	c.(13459-13461)atafs	p.I4488fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4488					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAAATTATTTTCTTCGTC	0.373																																						dbGAP											0													85.0	93.0	90.0					2																	21224835		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13459delA	2.37:g.21224835delT	ENSP00000233242:p.Ile4488fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I4487fs	ENST00000233242.1	37	c.13459	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	173	0.00	0	T			21224835	21224835	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	frame_shift_del	123	41.04	87	DEL	0.420	-
ASCC2	84164	genome.wustl.edu	37	22	30189408	30189408	+	Silent	SNP	G	G	A			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr22:30189408G>A	ENST00000397771.2	-	18	2037	c.1860C>T	c.(1858-1860)taC>taT	p.Y620Y	ASCC2_ENST00000542393.1_Silent_p.Y544Y|ASCC2_ENST00000307790.3_Silent_p.Y620Y			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGCCATCGTATGTGTCAT	0.597																																						dbGAP											0													93.0	68.0	76.0					22																	30189408		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1860C>T	22.37:g.30189408G>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.Y620	ENST00000397771.2	37	c.1860	CCDS13869.1	22																																																																																			ASCC2	-	NULL	ENSG00000100325		0.597	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	88	0.00	0	G	NM_032204		30189408	30189408	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	silent	56	13.85	9	SNP	0.986	A
CKAP2	26586	genome.wustl.edu	37	13	53048072	53048072	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr13:53048072T>G	ENST00000378037.5	+	8	1748	c.1658T>G	c.(1657-1659)cTt>cGt	p.L553R	CKAP2_ENST00000258607.5_Missense_Mutation_p.L552R|CKAP2_ENST00000490903.1_Missense_Mutation_p.L504R	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GAGAGTAAACTTCATAGAAAT	0.368																																						dbGAP											0													85.0	89.0	88.0					13																	53048072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1658T>G	13.37:g.53048072T>G	ENSP00000367276:p.Leu553Arg			Missense_Mutation	SNP	NULL	p.L553R	ENST00000378037.5	37	c.1658	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	0	-2.661936	0.00107	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.20463	2.07;2.07;2.07	5.55	0.24	0.15489	.	0.793303	0.11852	N	0.523236	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.36480	-0.9746	10	0.17832	T	0.49	0.002	0.5956	0.00735	0.4392:0.1396:0.1524:0.2689	.	504;553;552	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	R	552;553;504	ENSP00000258607:L552R;ENSP00000367276:L553R;ENSP00000417830:L504R	ENSP00000258607:L552R	L	+	2	0	CKAP2	51946073	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	0.681000	0.25320	-0.196000	0.10366	-0.257000	0.10917	CTT	CKAP2	-	NULL	ENSG00000136108		0.368	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	263	0.00	0	T			53048072	53048072	+1	no_errors	ENST00000378037	ensembl	human	known	69_37n	missense	154	43.43	119	SNP	0.000	G
CNTN1	1272	genome.wustl.edu	37	12	41316230	41316230	+	Splice_Site	SNP	T	T	A			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr12:41316230T>A	ENST00000551295.2	+	5	517	c.400T>A	c.(400-402)Tat>Aat	p.Y134N	CNTN1_ENST00000360099.3_Splice_Site_p.Y134N|CNTN1_ENST00000348761.2_Splice_Site_p.Y123N|CNTN1_ENST00000347616.1_Splice_Site_p.Y134N|CNTN1_ENST00000547702.1_Splice_Site_p.Y134N|CNTN1_ENST00000547849.1_Splice_Site_p.Y134N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	134					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGCTTTGGATGTAAGTAAAC	0.408																																						dbGAP											0													93.0	84.0	87.0					12																	41316230		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.400+1T>A	12.37:g.41316230T>A			A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Y134N	ENST00000551295.2	37	c.400	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737921	0.89573	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.65364	-0.15;0.24;-0.15;0.24;-0.15;0.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	M	0.66439	2.03	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76071	0.987;0.976;0.946	T	0.76337	-0.2996	10	0.39692	T	0.17	.	15.7512	0.77986	0.0:0.0:0.0:1.0	.	134;123;134	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	N	134;134;134;134;134;123	ENSP00000448004:Y134N;ENSP00000447006:Y134N;ENSP00000448653:Y134N;ENSP00000325660:Y134N;ENSP00000353213:Y134N;ENSP00000261160:Y123N	ENSP00000325660:Y134N	Y	+	1	0	CNTN1	39602497	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.499000	0.81566	2.195000	0.70347	0.477000	0.44152	TAT	CNTN1	-	NULL	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	238	0.00	0	T	NM_001843	Missense_Mutation	41316230	41316230	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	125	45.65	105	SNP	1.000	A
DMWD	1762	genome.wustl.edu	37	19	46294321	46294321	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr19:46294321C>T	ENST00000270223.6	-	2	511	c.466G>A	c.(466-468)Gac>Aac	p.D156N	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.D156N	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	156										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ATCCGCTTGTCAATTGGCTTG	0.547																																						dbGAP											0													150.0	153.0	152.0					19																	46294321		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.466G>A	19.37:g.46294321C>T	ENSP00000270223:p.Asp156Asn			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D156N	ENST00000270223.6	37	c.466	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	c	29.5	5.011010	0.93346	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.42131	0.98;0.98	4.22	4.22	0.49857	.	0.066545	0.64402	D	0.000020	T	0.57592	0.2064	L	0.49126	1.545	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.984	T	0.60712	-0.7209	10	0.66056	D	0.02	-41.5463	14.469	0.67504	0.0:1.0:0.0:0.0	.	156;156	G5E9A7;Q09019	.;DMWD_HUMAN	N	156	ENSP00000366964:D156N;ENSP00000270223:D156N	ENSP00000270223:D156N	D	-	1	0	DMWD	50986161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.161000	0.77505	2.343000	0.79666	0.561000	0.74099	GAC	DMWD	-	NULL	ENSG00000185800		0.547	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	570	0.35	2	C	NM_004943		46294321	46294321	-1	no_errors	ENST00000270223	ensembl	human	known	69_37n	missense	255	32.28	122	SNP	1.000	T
FBXL5	26234	genome.wustl.edu	37	4	15627295	15627295	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr4:15627295G>T	ENST00000341285.3	-	9	1554	c.1430C>A	c.(1429-1431)cCt>cAt	p.P477H	FBXL5_ENST00000382358.4_Missense_Mutation_p.P351H|FBXL5_ENST00000412094.2_Missense_Mutation_p.P460H	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	477					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CCACACATAAGGAGAAGTGAA	0.383																																						dbGAP											0													152.0	143.0	146.0					4																	15627295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1430C>A	4.37:g.15627295G>T	ENSP00000344866:p.Pro477His		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.P477H	ENST00000341285.3	37	c.1430	CCDS3415.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129149	0.77549	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.32023	1.49;1.49;1.47	5.69	5.69	0.88448	.	0.145299	0.64402	D	0.000006	T	0.31734	0.0806	N	0.14661	0.345	0.41943	D	0.990623	P;P	0.47253	0.892;0.828	P;B	0.49528	0.614;0.41	T	0.16600	-1.0397	10	0.72032	D	0.01	-23.1046	19.8167	0.96571	0.0:0.0:1.0:0.0	.	460;477	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	H	477;460;351	ENSP00000344866:P477H;ENSP00000408679:P460H;ENSP00000371795:P351H	ENSP00000344866:P477H	P	-	2	0	FBXL5	15236393	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	8.591000	0.90824	2.679000	0.91253	0.563000	0.77884	CCT	FBXL5	-	NULL	ENSG00000118564		0.383	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	424	0.23	1	G			15627295	15627295	-1	no_errors	ENST00000341285	ensembl	human	known	69_37n	missense	209	47.77	193	SNP	1.000	T
MBD4	8930	genome.wustl.edu	37	3	129152964	129152964	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr3:129152964C>T	ENST00000249910.1	-	4	1392	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	MBD4_ENST00000507208.1_Missense_Mutation_p.R406Q|MBD4_ENST00000503197.1_Missense_Mutation_p.R406Q|MBD4_ENST00000393278.2_Missense_Mutation_p.R88Q|MBD4_ENST00000429544.2_Missense_Mutation_p.R400Q|MBD4_ENST00000509587.1_5'UTR	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	406					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TATCTGTGTTCGTGGGATGGT	0.338								Base excision repair (BER), DNA glycosylases																														dbGAP											0													142.0	139.0	140.0					3																	129152964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1217G>A	3.37:g.129152964C>T	ENSP00000249910:p.Arg406Gln		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.R406Q	ENST00000249910.1	37	c.1217	CCDS3058.1	3	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856700	0.51376	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;T;D	0.94457	-3.19;-3.22;-3.43;0.97;-3.42	5.57	3.79	0.43588	.	0.282626	0.35838	N	0.002953	D	0.87485	0.6189	L	0.41824	1.3	0.35868	D	0.828041	P;B;B;P;P	0.50066	0.614;0.148;0.232;0.931;0.462	B;B;B;B;B	0.33750	0.041;0.013;0.029;0.169;0.028	D	0.85899	0.1433	10	0.36615	T	0.2	-5.0172	7.1332	0.25512	0.0:0.7085:0.1397:0.1518	.	406;88;400;406;406	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	Q	400;406;406;88;406	ENSP00000394080:R400Q;ENSP00000249910:R406Q;ENSP00000424873:R406Q;ENSP00000376959:R88Q;ENSP00000422327:R406Q	ENSP00000249910:R406Q	R	-	2	0	MBD4	130635654	0.810000	0.29049	1.000000	0.80357	0.992000	0.81027	0.465000	0.22004	0.744000	0.32741	0.650000	0.86243	CGA	MBD4	-	pirsf_Me_CpG-bd_MBD4	ENSG00000129071		0.338	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1	588	0.17	1	C	NM_003925		129152964	129152964	-1	no_errors	ENST00000249910	ensembl	human	known	69_37n	missense	295	44.44	236	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100639971	100639971	+	Missense_Mutation	SNP	G	G	C	rs201648150	byFrequency	TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr7:100639971G>C	ENST00000379442.3	+	5	6556	c.6556G>C	c.(6556-6558)Gtt>Ctt	p.V2186L	MUC12_ENST00000536621.1_Missense_Mutation_p.V2043L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2186	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CTCAGGCATCGTTGAAGCATC	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.6556G>C	7.37:g.100639971G>C	ENSP00000368755:p.Val2186Leu		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.V2186L	ENST00000379442.3	37	c.6556		7	.	.	.	.	.	.	.	.	.	.	a	0.547	-0.851017	0.02651	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11930	2.73;2.73	0.891	-1.78	0.07957	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37291	-0.9712	7	0.28530	T	0.3	.	2.9539	0.05870	0.0:0.3027:0.3919:0.3054	.	.	.	.	L	2186;2043	ENSP00000368755:V2186L;ENSP00000441929:V2043L	ENSP00000368755:V2186L	V	+	1	0	MUC12	100426691	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.528000	0.06193	-1.069000	0.03153	-1.216000	0.01612	GTT	MUC12	-	NULL	ENSG00000205277		0.567	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	15	0.00	0	G	XM_379904		100639971	100639971	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	6	33.33	3	SNP	0.000	C
MYB	4602	genome.wustl.edu	37	6	135511361	135511361	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr6:135511361C>T	ENST00000367814.4	+	5	589	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	MYB_ENST00000525369.1_Missense_Mutation_p.H135Y|MYB_ENST00000534044.1_Missense_Mutation_p.H135Y|MYB_ENST00000534121.1_Missense_Mutation_p.H135Y|MYB_ENST00000316528.8_Missense_Mutation_p.H135Y|MYB_ENST00000420123.2_Missense_Mutation_p.H111Y|MYB_ENST00000527615.1_Missense_Mutation_p.H135Y|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.H135Y|MYB_ENST00000533624.1_Missense_Mutation_p.H135Y|MYB_ENST00000442647.2_Missense_Mutation_p.H135Y|MYB_ENST00000341911.5_Missense_Mutation_p.H135Y	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	135	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGAGGTGGCATAACCACTT	0.448			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													107.0	104.0	105.0					6																	135511361		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.403C>T	6.37:g.135511361C>T	ENSP00000356788:p.His135Tyr		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H135Y	ENST00000367814.4	37	c.403	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936426	0.92458	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.33438	2.62;2.16;2.15;2.17;1.41;1.86;2.61;2.6;1.84;2.2	5.81	5.81	0.92471	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	N	0.20357	0.565	0.80722	D	1	D;P;P;B;D;B;B;D;D	0.89917	0.998;0.607;0.748;0.03;0.987;0.077;0.012;1.0;0.996	D;B;B;B;P;B;B;D;P	0.79108	0.917;0.237;0.251;0.042;0.87;0.127;0.025;0.992;0.902	T	0.36016	-0.9765	10	0.87932	D	0	-14.3157	20.0726	0.97729	0.0:1.0:0.0:0.0	.	135;135;135;135;135;135;135;135;135	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	Y	135;135;135;135;135;135;111;135;135;135;135;135;89	ENSP00000339992:H135Y;ENSP00000410825:H135Y;ENSP00000326328:H135Y;ENSP00000356788:H135Y;ENSP00000433227:H135Y;ENSP00000435938:H135Y;ENSP00000434723:H135Y;ENSP00000432851:H135Y;ENSP00000435055:H135Y;ENSP00000436605:H135Y	ENSP00000237302:H135Y	H	+	1	0	MYB	135553054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.738000	0.93877	0.655000	0.94253	CAT	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.448	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	275	0.00	0	C			135511361	135511361	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	missense	159	40.30	108	SNP	1.000	T
NCOR1	9611	genome.wustl.edu	37	17	15965146	15965147	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr17:15965146_15965147GC>TT	ENST00000268712.3	-	37	5706_5707	c.5449_5450GC>AA	c.(5449-5451)GCt>AAt	p.A1817N	NCOR1_ENST00000395857.3_Missense_Mutation_p.A401N|NCOR1_ENST00000395851.1_Missense_Mutation_p.A1833N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1817	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCATCCGCAGCAGTGTTGTAA	0.53																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5449_5450delinsTT	17.37:g.15965146_15965147delinsTT	ENSP00000268712:p.Ala1817Asn		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A1817D|p.A1817T	ENST00000268712.3	37	c.5450|c.5449	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.530	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	40	0.00	0	G|C	NM_006311		15965146|15965147	15965146|15965147	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	19	62.75|60.78	32|31	SNP	1.000	T
PDE4C	5143	genome.wustl.edu	37	19	18333013	18333013	+	Silent	SNP	C	C	G			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr19:18333013C>G	ENST00000355502.3	-	6	1234	c.363G>C	c.(361-363)ctG>ctC	p.L121L	PDE4C_ENST00000262805.12_Silent_p.L89L|PDE4C_ENST00000594465.3_Silent_p.L121L|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000447275.3_Silent_p.L15L|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000594617.3_Silent_p.L121L|PDE4C_ENST00000597297.1_5'Flank			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	121					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGAGCGGTACAGGAAGGACT	0.647																																						dbGAP											0													66.0	59.0	61.0					19																	18333013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.363G>C	19.37:g.18333013C>G			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L121	ENST00000355502.3	37	c.363	CCDS12373.1	19																																																																																			PDE4C	-	NULL	ENSG00000105650		0.647	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	95	0.00	0	C			18333013	18333013	-1	no_errors	ENST00000355502	ensembl	human	known	69_37n	silent	34	42.37	25	SNP	0.998	G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	207	0.48	1	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	134	41.48	95	SNP	1.000	A
PRSS37	136242	genome.wustl.edu	37	7	141537798	141537798	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr7:141537798C>A	ENST00000350549.3	-	3	663	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	PRSS37_ENST00000438520.1_Missense_Mutation_p.D98Y	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ATGAGGTCATCCTGTGGGGCG	0.537																																						dbGAP											0													260.0	211.0	227.0					7																	141537798		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.292G>T	7.37:g.141537798C>A	ENSP00000297767:p.Asp98Tyr		B2RPB5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D98Y	ENST00000350549.3	37	c.292	CCDS34764.1	7	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751871	0.31046	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.40476	1.03;1.03	5.65	4.74	0.60224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.097819	0.45606	D	0.000353	T	0.31796	0.0808	L	0.37630	1.12	0.40974	D	0.98472	B;B	0.22276	0.067;0.067	B;B	0.25987	0.065;0.065	T	0.18871	-1.0323	10	0.54805	T	0.06	.	7.2965	0.26395	0.0:0.7289:0.1819:0.0892	.	98;98	B7ZMK3;A4D1T9	.;PRS37_HUMAN	Y	98	ENSP00000297767:D98Y;ENSP00000414461:D98Y	ENSP00000297767:D98Y	D	-	1	0	PRSS37	141184267	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	3.135000	0.50546	2.941000	0.99782	0.655000	0.94253	GAT	PRSS37	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000165076		0.537	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS37	HGNC	protein_coding	OTTHUMT00000347763.1	409	0.00	0	C	NM_001008270		141537798	141537798	-1	no_errors	ENST00000350549	ensembl	human	known	69_37n	missense	195	44.60	157	SNP	1.000	A
PSMB6	5694	genome.wustl.edu	37	17	4700075	4700075	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr17:4700075C>T	ENST00000270586.3	+	2	206	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GGGGCGGACTCCAGAACAACC	0.547																																						dbGAP											0													156.0	159.0	158.0					17																	4700075		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.155C>T	17.37:g.4700075C>T	ENSP00000270586:p.Ser52Phe		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.S52F	ENST00000270586.3	37	c.155	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947509	0.92593	.	.	ENSG00000142507	ENST00000270586	T	0.24908	1.83	5.65	5.65	0.86999	Proteasome, beta-type subunit, conserved site (1);	0.070640	0.64402	D	0.000006	T	0.67979	0.2951	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79752	-0.1671	10	0.87932	D	0	-12.6083	15.093	0.72211	0.0:1.0:0.0:0.0	.	52	P28072	PSB6_HUMAN	F	52	ENSP00000270586:S52F	ENSP00000270586:S52F	S	+	2	0	PSMB6	4647033	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.524000	0.73791	2.941000	0.99782	0.655000	0.94253	TCC	PSMB6	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	ENSG00000142507		0.547	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2	236	0.00	0	C	NM_002798		4700075	4700075	+1	no_errors	ENST00000270586	ensembl	human	known	69_37n	missense	101	42.05	74	SNP	1.000	T
RIMBP2	23504	genome.wustl.edu	37	12	130912757	130912757	+	Missense_Mutation	SNP	C	C	A	rs2277356	byFrequency	TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr12:130912757C>A	ENST00000261655.4	-	12	2491	c.2328G>T	c.(2326-2328)agG>agT	p.R776S		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	776					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCTGGGCCGCCTCCTTCCCC	0.617																																						dbGAP											0													78.0	60.0	66.0					12																	130912757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2328G>T	12.37:g.130912757C>A	ENSP00000261655:p.Arg776Ser		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.R776S	ENST00000261655.4	37	c.2328	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640851	0.47153	.	.	ENSG00000060709	ENST00000261655	T	0.20598	2.06	4.96	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.66939	2.045	0.09310	P	1.0	D	0.76494	0.999	D	0.78314	0.991	T	0.49072	-0.8977	9	0.22706	T	0.39	-30.0412	9.5871	0.39524	0.1456:0.7783:0.0:0.0761	.	776	O15034	RIMB2_HUMAN	S	776	ENSP00000261655:R776S	ENSP00000261655:R776S	R	-	3	2	RIMBP2	129478710	0.896000	0.30565	0.952000	0.39060	0.245000	0.25701	-0.036000	0.12185	1.030000	0.39839	0.561000	0.74099	AGG	RIMBP2	-	NULL	ENSG00000060709		0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	82	0.00	0	C	NM_015347		130912757	130912757	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	missense	39	35.00	21	SNP	1.000	A
RREB1	6239	genome.wustl.edu	37	6	7189439	7189439	+	Silent	SNP	A	A	G			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr6:7189439A>G	ENST00000349384.6	+	6	623	c.309A>G	c.(307-309)ggA>ggG	p.G103G	Y_RNA_ENST00000364613.1_RNA|RREB1_ENST00000334984.6_Silent_p.G103G|RREB1_ENST00000379933.3_Silent_p.G103G|RREB1_ENST00000379938.2_Silent_p.G103G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	103					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCATCTGCGGAAAGTCACTGA	0.552																																						dbGAP											0													67.0	53.0	57.0					6																	7189439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.309A>G	6.37:g.7189439A>G			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G103	ENST00000349384.6	37	c.309	CCDS34336.1	6																																																																																			RREB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124782		0.552	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	72	0.00	0	A			7189439	7189439	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	silent	22	57.69	30	SNP	1.000	G
RMND1	55005	genome.wustl.edu	37	6	151743699	151743699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr6:151743699C>A	ENST00000367303.4	-	8	1101	c.979G>T	c.(979-981)Gaa>Taa	p.E327*	RMND1_ENST00000336451.3_Nonsense_Mutation_p.E116*	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	327					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGAATAGATTCAATAAATTTA	0.244																																						dbGAP											0													25.0	24.0	24.0					6																	151743699		2188	4272	6460	-	-	-	SO:0001587	stop_gained	0			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.979G>T	6.37:g.151743699C>A	ENSP00000356272:p.Glu327*		A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Nonsense_Mutation	SNP	pfam_DUF155	p.E327*	ENST00000367303.4	37	c.979	CCDS5232.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.507708	0.96386	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000367299;ENST00000444024	.	.	.	5.45	5.45	0.79879	.	0.203895	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-21.5114	13.8087	0.63250	0.1533:0.8467:0.0:0.0	.	.	.	.	X	116;327;18;157	.	ENSP00000336683:E116X	E	-	1	0	RMND1	151785392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.980000	0.56895	2.572000	0.86782	0.460000	0.39030	GAA	RMND1	-	pfam_DUF155	ENSG00000155906		0.244	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	110	0.00	0	C	NM_017909		151743699	151743699	-1	no_errors	ENST00000367303	ensembl	human	known	69_37n	nonsense	92	24.59	30	SNP	1.000	A
SREBF1	6720	genome.wustl.edu	37	17	17716752	17716752	+	Silent	SNP	G	G	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr17:17716752G>T	ENST00000261646.5	-	18	3328	c.3144C>A	c.(3142-3144)gcC>gcA	p.A1048A	SREBF1_ENST00000395757.1_Silent_p.A794A|SREBF1_ENST00000338854.5_Intron|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Silent_p.A1078A	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1048					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGTGGGGCTGGCCCCCGCCA	0.697																																						dbGAP											0													13.0	17.0	16.0					17																	17716752		2181	4288	6469	-	-	-	SO:0001819	synonymous_variant	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3144C>A	17.37:g.17716752G>T			B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	NULL	p.P2Q	ENST00000261646.5	37	c.5	CCDS11189.1	17	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655027	0.29425	.	.	ENSG00000072310	ENST00000395751	.	.	.	5.03	4.03	0.46877	.	.	.	.	.	T	0.56124	0.1964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	-20.7725	6.9685	0.24637	0.0805:0.0:0.5963:0.3232	.	.	.	.	K	1056	.	.	Q	-	1	0	SREBF1	17657477	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.876000	0.56115	1.048000	0.40298	0.561000	0.74099	CAG	SREBF1	-	NULL	ENSG00000072310		0.697	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	22	0.00	0	G	NM_004176		17716752	17716752	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000578469	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	1.000	T
SULT1A2	6799	genome.wustl.edu	37	16	28603690	28603690	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr16:28603690C>T	ENST00000395630.1	-	7	1019	c.669G>A	c.(667-669)atG>atA	p.M223I	SULT1A2_ENST00000335715.4_Missense_Mutation_p.M223I|SULT1A2_ENST00000533150.1_Missense_Mutation_p.M190I	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	223					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGTGCTCAACCATGAGGTCCA	0.557																																						dbGAP											0													191.0	166.0	175.0					16																	28603690		2197	4300	6497	-	-	-	SO:0001583	missense	0			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.669G>A	16.37:g.28603690C>T	ENSP00000378992:p.Met223Ile		A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M223I	ENST00000395630.1	37	c.669	CCDS10636.1	16	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.067250	0.00382	.	.	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630	T;T;T	0.01323	5.01;5.01;5.01	4.98	-4.51	0.03483	Sulfotransferase domain (1);	0.076082	0.53938	N	0.000057	T	0.00241	0.0007	N	0.00016	-2.865	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.43245	-0.9403	10	0.02654	T	1	.	7.4173	0.27053	0.6594:0.1375:0.203:0.0	.	223	P50226	ST1A2_HUMAN	I	190;223;223	ENSP00000435271:M190I;ENSP00000338742:M223I;ENSP00000378992:M223I	ENSP00000338742:M223I	M	-	3	0	SULT1A2	28511191	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-2.178000	0.01260	-0.614000	0.05687	-0.564000	0.04169	ATG	SULT1A2	-	pfam_Sulfotransferase_dom	ENSG00000197165		0.557	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A2	HGNC	protein_coding	OTTHUMT00000109415.2	644	0.00	0	C	NM_001054		28603690	28603690	-1	no_errors	ENST00000335715	ensembl	human	known	69_37n	missense	268	45.86	227	SNP	0.002	T
TEAD4	7004	genome.wustl.edu	37	12	3104024	3104024	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr12:3104024T>G	ENST00000359864.2	+	3	282	c.92T>G	c.(91-93)cTg>cGg	p.L31R	TEAD4_ENST00000358409.2_Missense_Mutation_p.L31R|TEAD4_ENST00000397122.2_Intron	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	31					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGTCAGGCACTGGACAAGCCC	0.662																																						dbGAP											0													98.0	103.0	101.0					12																	3104024		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.92T>G	12.37:g.3104024T>G	ENSP00000352926:p.Leu31Arg		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.L31R	ENST00000359864.2	37	c.92	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495096	0.26774	.	.	ENSG00000197905	ENST00000358409;ENST00000536826;ENST00000359864;ENST00000543035	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.34	4.19	0.49359	.	0.000000	0.53938	D	0.000046	T	0.48059	0.1479	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.41610	-0.9499	10	0.16420	T	0.52	-14.7213	10.4646	0.44600	0.0:0.0763:0.0:0.9237	.	31	Q15561	TEAD4_HUMAN	R	31	ENSP00000351184:L31R;ENSP00000438453:L31R;ENSP00000352926:L31R;ENSP00000444528:L31R	ENSP00000351184:L31R	L	+	2	0	TEAD4	2974285	0.999000	0.42202	0.951000	0.38953	0.994000	0.84299	2.798000	0.47884	0.877000	0.35895	0.529000	0.55759	CTG	TEAD4	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000197905		0.662	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	59	0.00	0	T	NM_003213		3104024	3104024	+1	no_errors	ENST00000359864	ensembl	human	known	69_37n	missense	18	52.63	20	SNP	0.996	G
TRPC4AP	26133	genome.wustl.edu	37	20	33591392	33591392	+	Silent	SNP	G	G	A			TCGA-C8-A133-01A-32D-A12B-09	TCGA-C8-A133-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	641e848d-e3e2-46a7-ad42-5e5672639816	3f217fec-f788-4fea-9a68-e28e5245f7e7	g.chr20:33591392G>A	ENST00000252015.2	-	18	2166	c.2077C>T	c.(2077-2079)Ctg>Ttg	p.L693L	TRPC4AP_ENST00000432634.2_Silent_p.L654L|TRPC4AP_ENST00000451813.2_Silent_p.L685L|TRPC4AP_ENST00000539834.1_Silent_p.L295L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	693					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGATCACCAGGCTGGTGTTG	0.657																																						dbGAP											0													39.0	34.0	36.0					20																	33591392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2077C>T	20.37:g.33591392G>A			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	pfam_DUF3689	p.L693	ENST00000252015.2	37	c.2077	CCDS13246.1	20																																																																																			TRPC4AP	-	pfam_DUF3689	ENSG00000100991		0.657	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	52	0.00	0	G	NM_015638		33591392	33591392	-1	no_errors	ENST00000252015	ensembl	human	known	69_37n	silent	22	43.59	17	SNP	1.000	A
