#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
ADORA3	140	genome.wustl.edu	37	1	112031583	112031583	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:112031583C>T	ENST00000369716.4	-	3	654	c.521G>A	c.(520-522)tGc>tAc	p.C174Y	ADORA3_ENST00000369717.4_Missense_Mutation_p.C93Y|RNU6-792P_ENST00000363490.1_RNA	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATTGTAGTTGCAGATGGCAGA	0.498																																						dbGAP											0													203.0	186.0	192.0					1																	112031583		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.521G>A	1.37:g.112031583C>T	ENSP00000358730:p.Cys174Tyr		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adeno_A3_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.C174Y	ENST00000369716.4	37	c.521	CCDS838.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808225|2.808225	0.50421|0.50421	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000414219|ENST00000369717;ENST00000369716	.|T;T	.|0.40476	.|1.03;1.03	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.56097	.|D	.|0.000033	T|T	0.67859|0.67859	0.2938|0.2938	H|H	0.94771|0.94771	3.58|3.58	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	T|T	0.76296|0.76296	-0.3011|-0.3011	5|10	.|0.56958	.|D	.|0.05	-31.9125|-31.9125	13.8473|13.8473	0.63474|0.63474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93;174	.|Q5QNY7;P33765-2	.|.;.	T|Y	34|93;174	.|ENSP00000358731:C93Y;ENSP00000358730:C174Y	.|ENSP00000358730:C174Y	A|C	-|-	1|2	0|0	ADORA3|ADORA3	111833106|111833106	1.000000|1.000000	0.71417|0.71417	0.712000|0.712000	0.30502|0.30502	0.437000|0.437000	0.31866|0.31866	3.126000|3.126000	0.50477|0.50477	2.386000|2.386000	0.81285|0.81285	0.462000|0.462000	0.41574|0.41574	GCA|TGC	ADORA3	-	NULL	ENSG00000121933		0.498	ADORA3-007	KNOWN	basic|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000157679.1	145	0.68	1	C	NM_000677, NM_020683		112031583	112031583	-1	no_errors	ENST00000369716	ensembl	human	known	69_37n	missense	302	25.06	101	SNP	0.991	T
APOB	338	genome.wustl.edu	37	2	21228741	21228743	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr2:21228741_21228743delCTT	ENST00000233242.1	-	26	11124_11126	c.10997_10999delAAG	c.(10996-11001)gaagga>gga	p.E3666del		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3666					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)					CTTAGGTGTCCTTCTAAGGATCC	0.448																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.10997_10999delAAG	2.37:g.21228741_21228743delCTT	ENSP00000233242:p.Glu3666del		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_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.E3666in_frame_del	ENST00000233242.1	37	c.10999_10997	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	108	0.00	0	CTT			21228741	21228743	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	in_frame_del	223	13.13	34	DEL	1.000:0.999:1.000	-
ATP13A1	57130	genome.wustl.edu	37	19	19766177	19766177	+	Silent	SNP	G	G	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr19:19766177G>T	ENST00000357324.6	-	11	1508	c.1482C>A	c.(1480-1482)ccC>ccA	p.P494P	ATP13A1_ENST00000291503.5_Silent_p.P376P|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	494						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACAGCTCGATGGGCAGCTCAG	0.632																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	dbGAP											0													103.0	84.0	90.0					19																	19766177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1482C>A	19.37:g.19766177G>T			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.P494	ENST00000357324.6	37	c.1482	CCDS32970.2	19																																																																																			ATP13A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000105726		0.632	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	55	0.00	0	G	NM_020410		19766177	19766177	-1	no_errors	ENST00000357324	ensembl	human	known	69_37n	silent	130	36.27	74	SNP	1.000	T
BICC1	80114	genome.wustl.edu	37	10	60560727	60560727	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr10:60560727A>T	ENST00000373886.3	+	14	1940	c.1936A>T	c.(1936-1938)Atg>Ttg	p.M646L	BICC1_ENST00000263103.1_Missense_Mutation_p.M272L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	646					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTTGAAACAGATGATGTGTCC	0.413																																						dbGAP											0													153.0	140.0	144.0					10																	60560727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1936A>T	10.37:g.60560727A>T	ENSP00000362993:p.Met646Leu			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.M646L	ENST00000373886.3	37	c.1936	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911488	0.72983	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.49432	1.78;0.78	6.04	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.63843	1.955	0.50467	D	0.99987	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.39563	-0.9608	10	0.54805	T	0.06	-17.1993	13.3797	0.60761	0.8687:0.1313:0.0:0.0	.	566;646	E7EU62;Q9H694	.;BICC1_HUMAN	L	646;272	ENSP00000362993:M646L;ENSP00000263103:M272L	ENSP00000263103:M272L	M	+	1	0	BICC1	60230733	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.011000	0.76359	1.065000	0.40693	0.459000	0.35465	ATG	BICC1	-	NULL	ENSG00000122870		0.413	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	105	0.00	0	A	NM_025044		60560727	60560727	+1	no_errors	ENST00000373886	ensembl	human	known	69_37n	missense	138	14.81	24	SNP	1.000	T
BMP2K	55589	genome.wustl.edu	37	4	79832817	79832817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr4:79832817C>A	ENST00000335016.5	+	16	3282	c.3116C>A	c.(3115-3117)tCa>tAa	p.S1039*	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1039					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTAACCATCTCAGACTCCAAG	0.498																																						dbGAP											0													72.0	72.0	72.0					4																	79832817		1889	4113	6002	-	-	-	SO:0001587	stop_gained	0			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3116C>A	4.37:g.79832817C>A	ENSP00000334836:p.Ser1039*		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1039*	ENST00000335016.5	37	c.3116	CCDS47083.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.347742	0.98772	.	.	ENSG00000138756	ENST00000335016	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8357	19.1973	0.93695	0.0:1.0:0.0:0.0	.	.	.	.	X	1039	.	ENSP00000334836:S1039X	S	+	2	0	BMP2K	80051841	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.008000	0.76341	2.538000	0.85594	0.484000	0.47621	TCA	BMP2K	-	NULL	ENSG00000138756		0.498	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		25	0.00	0	C	NM_017593		79832817	79832817	+1	no_errors	ENST00000335016	ensembl	human	known	69_37n	nonsense	18	33.33	9	SNP	1.000	A
BMS1	9790	genome.wustl.edu	37	10	43326387	43326387	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr10:43326387T>A	ENST00000374518.5	+	23	3755	c.3692T>A	c.(3691-3693)cTg>cAg	p.L1231Q	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1231					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGCGGCACCTGCACAATAAA	0.527																																						dbGAP											0													39.0	34.0	36.0					10																	43326387		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3692T>A	10.37:g.43326387T>A	ENSP00000363642:p.Leu1231Gln		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN	p.L1231Q	ENST00000374518.5	37	c.3692	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	T	7.952	0.745070	0.15710	.	.	ENSG00000165733	ENST00000374518	T	0.26373	1.74	5.16	2.62	0.31277	.	0.363396	0.26696	N	0.022973	T	0.08891	0.0220	N	0.02213	-0.635	0.27037	N	0.964107	B	0.15473	0.013	B	0.10450	0.005	T	0.32798	-0.9893	10	0.14656	T	0.56	.	8.9759	0.35935	0.6133:0.0:0.0:0.3867	.	1231	Q14692	BMS1_HUMAN	Q	1231	ENSP00000363642:L1231Q	ENSP00000363642:L1231Q	L	+	2	0	BMS1	42646393	0.992000	0.36948	0.903000	0.35520	0.621000	0.37620	2.622000	0.46427	0.760000	0.33108	0.379000	0.24179	CTG	BMS1	-	NULL	ENSG00000165733		0.527	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	42	0.00	0	T	NM_014753		43326387	43326387	+1	no_errors	ENST00000374518	ensembl	human	known	69_37n	missense	54	34.94	29	SNP	0.956	A
C17orf64	124773	genome.wustl.edu	37	17	58503620	58503620	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr17:58503620C>A	ENST00000269127.4	+	3	336	c.252C>A	c.(250-252)agC>agA	p.S84R		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	84										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGAAGCAGAGCCTTGTGGTCC	0.502																																						dbGAP											0													135.0	131.0	132.0					17																	58503620		692	1591	2283	-	-	-	SO:0001583	missense	0			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.252C>A	17.37:g.58503620C>A	ENSP00000269127:p.Ser84Arg		Q8IY87	Missense_Mutation	SNP	NULL	p.S84R	ENST00000269127.4	37	c.252	CCDS32698.2	17	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786528	0.70337	.	.	ENSG00000141371	ENST00000428000;ENST00000269127	.	.	.	5.49	3.51	0.40186	.	0.164802	0.43260	D	0.000586	T	0.68035	0.2957	L	0.59436	1.845	0.38861	D	0.956489	D	0.76494	0.999	D	0.72982	0.979	T	0.70908	-0.4744	9	0.62326	D	0.03	-17.5295	8.8366	0.35115	0.0:0.8254:0.0:0.1746	.	84	Q86WR6	CQ064_HUMAN	R	78;84	.	ENSP00000269127:S84R	S	+	3	2	C17orf64	55858402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.236000	0.32683	1.334000	0.45468	0.655000	0.94253	AGC	C17orf64	-	NULL	ENSG00000141371		0.502	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C17orf64	HGNC	protein_coding	OTTHUMT00000347743.1	80	0.00	0	C	NM_181707		58503620	58503620	+1	no_errors	ENST00000269127	ensembl	human	known	69_37n	missense	59	79.17	228	SNP	1.000	A
CCDC181	57821	genome.wustl.edu	37	1	169364427	169364427	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:169364427C>T	ENST00000367806.3	-	6	1540	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.R462Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R462Q|BLZF1_ENST00000329281.2_Intron	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	463						nucleus (GO:0005634)											TTTTTCCATCCGTTTCCTTCT	0.393																																						dbGAP											0													131.0	124.0	126.0					1																	169364427		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1388G>A	1.37:g.169364427C>T	ENSP00000356780:p.Arg463Gln		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.R463Q	ENST00000367806.3	37	c.1388		1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574851	0.45902	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.25414	1.8;1.8;1.8	6.07	2.17	0.27698	.	0.234953	0.43110	N	0.000601	T	0.05318	0.0141	N	0.17723	0.515	0.36232	D	0.852682	B;B	0.31625	0.332;0.332	B;B	0.23852	0.049;0.049	T	0.30534	-0.9975	9	0.36615	T	0.2	-2.1492	10.0751	0.42355	0.0:0.7309:0.0:0.2691	.	463;462	Q5TID7;Q5TID7-3	CA114_HUMAN;.	Q	462;463;462	ENSP00000356779:R462Q;ENSP00000356780:R463Q;ENSP00000442297:R462Q	ENSP00000356779:R462Q	R	-	2	0	C1orf114	167631051	0.841000	0.29509	0.695000	0.30226	0.644000	0.38419	0.537000	0.23144	0.154000	0.19237	0.655000	0.94253	CGG	C1orf114	-	NULL	ENSG00000117477		0.393	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	153	0.00	0	C	NM_021179		169364427	169364427	-1	no_errors	ENST00000367806	ensembl	human	known	69_37n	missense	358	17.89	78	SNP	0.891	T
C3orf52	79669	genome.wustl.edu	37	3	111831902	111831902	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr3:111831902G>T	ENST00000264848.5	+	5	618	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L	C3orf52_ENST00000430855.1_Intron|MIR567_ENST00000385205.1_RNA|C3orf52_ENST00000431717.2_Intron|C3orf52_ENST00000467942.2_3'UTR	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	187						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TGAGGAGTTGGTGCTGGGCAT	0.438																																						dbGAP											0													159.0	146.0	150.0					3																	111831902		1970	4175	6145	-	-	-	SO:0001583	missense	0			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.559G>T	3.37:g.111831902G>T	ENSP00000264848:p.Val187Leu		B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	NULL	p.V187L	ENST00000264848.5	37	c.559	CCDS46887.1	3	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765883	0.90020	.	.	ENSG00000114529	ENST00000264848	T	0.35048	1.33	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.61198	0.2328	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62714	-0.6796	10	0.66056	D	0.02	.	15.6357	0.76949	0.0:0.0:1.0:0.0	.	187	Q5BVD1	TTMP_HUMAN	L	187	ENSP00000264848:V187L	ENSP00000264848:V187L	V	+	1	0	C3orf52	113314592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.638000	0.37165	2.755000	0.94549	0.650000	0.86243	GTG	C3orf52	-	NULL	ENSG00000114529		0.438	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf52	HGNC	protein_coding	OTTHUMT00000353961.1	284	0.00	0	G	NM_024616		111831902	111831902	+1	no_errors	ENST00000264848	ensembl	human	known	69_37n	missense	586	20.60	152	SNP	1.000	T
CALB2	794	genome.wustl.edu	37	16	71408680	71408682	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr16:71408680_71408682delGAA	ENST00000302628.4	+	3	281_283	c.204_206delGAA	c.(202-207)atgaag>atg	p.K69del	CALB2_ENST00000349553.5_In_Frame_Del_p.K69del	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	69	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GAGAAAAGATGAAGGAGTTCATG	0.478																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.204_206delGAA	16.37:g.71408680_71408682delGAA	ENSP00000307508:p.Lys69del		A8K4Y1|Q53HD2|Q96BK4	In_Frame_Del	DEL	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K69in_frame_del	ENST00000302628.4	37	c.204_206	CCDS10899.1	16																																																																																			CALB2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000172137		0.478	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	HGNC	protein_coding	OTTHUMT00000268988.1	92	0.00	0	GAA	NM_001740		71408680	71408682	+1	no_errors	ENST00000302628	ensembl	human	known	69_37n	in_frame_del	160	19.60	39	DEL	1.000:1.000:1.000	-
CAP1	10487	genome.wustl.edu	37	1	40530205	40530205	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:40530205C>G	ENST00000372797.3	+	6	1059	c.498C>G	c.(496-498)aaC>aaG	p.N166K	CAP1_ENST00000372798.1_Missense_Mutation_p.N165K|CAP1_ENST00000340450.3_Missense_Mutation_p.N165K|CAP1_ENST00000372802.1_Missense_Mutation_p.N165K|CAP1_ENST00000372805.3_Missense_Mutation_p.N166K|CAP1_ENST00000372792.2_Missense_Mutation_p.N166K	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	320					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTATACAAACCGAGTCCTCA	0.453																																						dbGAP											0													112.0	105.0	107.0					1																	40530205		1866	4092	5958	-	-	-	SO:0001583	missense	0			L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.498C>G	1.37:g.40530205C>G	ENSP00000361883:p.Asn166Lys		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.N166K	ENST00000372797.3	37	c.498	CCDS41309.1	1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912644	0.72983	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000427843;ENST00000424977;ENST00000417287	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.05	2.11	0.27256	Adenylate cyclase-associated CAP, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.92459	3.31	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.70791	-0.4776	10	0.87932	D	0	-16.856	8.0226	0.30419	0.0:0.6778:0.0:0.3222	.	113;166	E7ENY9;Q01518	.;CAP1_HUMAN	K	166;165;166;166;166;166;166;143;165;165;166;165;166;166;166	ENSP00000361883:N166K;ENSP00000361888:N165K;ENSP00000398475:N166K;ENSP00000403198:N166K;ENSP00000408561:N166K;ENSP00000410586:N166K;ENSP00000361878:N166K;ENSP00000361884:N165K;ENSP00000344832:N165K;ENSP00000361891:N166K;ENSP00000412859:N165K;ENSP00000413656:N166K;ENSP00000413383:N166K;ENSP00000400943:N166K	ENSP00000344832:N165K	N	+	3	2	CAP1	40302792	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.729000	0.38115	0.163000	0.19507	0.655000	0.94253	AAC	CAP1	-	pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N	ENSG00000131236		0.453	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CAP1	HGNC	protein_coding	OTTHUMT00000013109.1	134	0.00	0	C	NM_006367		40530205	40530205	+1	no_errors	ENST00000372792	ensembl	human	known	69_37n	missense	209	20.83	55	SNP	1.000	G
DSCAM	1826	genome.wustl.edu	37	21	41559154	41559154	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr21:41559154C>G	ENST00000400454.1	-	14	3160	c.2683G>C	c.(2683-2685)Gat>Cat	p.D895H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	895	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTTTGACATCTTTGATCTCA	0.443																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													145.0	145.0	145.0					21																	41559154		1940	4140	6080	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2683G>C	21.37:g.41559154C>G	ENSP00000383303:p.Asp895His		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D895H	ENST00000400454.1	37	c.2683	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664783	0.88251	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.58940	0.3;0.3	5.18	5.18	0.71444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055474	0.64402	D	0.000001	T	0.66597	0.2805	L	0.50919	1.6	0.58432	D	0.999998	P	0.39311	0.667	P	0.49999	0.628	T	0.67507	-0.5653	10	0.56958	D	0.05	.	19.0429	0.93008	0.0:1.0:0.0:0.0	.	895	O60469	DSCAM_HUMAN	H	895;647	ENSP00000383303:D895H;ENSP00000385342:D647H	ENSP00000383303:D895H	D	-	1	0	DSCAM	40481024	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.678000	0.84035	2.563000	0.86464	0.561000	0.74099	GAT	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171587		0.443	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	155	0.00	0	C	NM_001389		41559154	41559154	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	264	11.71	35	SNP	1.000	G
DSPP	1834	genome.wustl.edu	37	4	88537096	88537096	+	Silent	SNP	T	T	C	rs200276196		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr4:88537096T>C	ENST00000282478.7	+	4	3315	c.3282T>C	c.(3280-3282)agT>agC	p.S1094S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1094S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1094	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcaatagcagtgacagcagcg	0.547																																						dbGAP											0													17.0	25.0	22.0					4																	88537096		895	1802	2697	-	-	-	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3282T>C	4.37:g.88537096T>C			A8MUI0|O95815	Silent	SNP	NULL	p.S1094	ENST00000282478.7	37	c.3282	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	14	0.00	0	T	NM_014208		88537096	88537096	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	silent	34	47.69	31	SNP	0.001	C
ESPN	83715	genome.wustl.edu	37	1	6511895	6511895	+	Silent	SNP	C	C	T	rs377130734		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:6511895C>T	ENST00000377828.1	+	10	2232	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	ESPN_ENST00000461727.1_Silent_p.P122P|ESPN_ENST00000416731.1_Silent_p.P122P|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	688	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGCAGCCCGATTCGCCGC	0.692																																						dbGAP											0													13.0	15.0	14.0					1																	6511895		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2064C>T	1.37:g.6511895C>T			Q6XYB2|Q9H0A2|Q9Y329	Nonsense_Mutation	SNP	NULL	p.R32*	ENST00000377828.1	37	c.94	CCDS70.1	1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188798	0.01607	.	.	ENSG00000187017	ENST00000434576	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.27053	N	0.963749	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.084	0.3814	0.00395	0.3143:0.1485:0.1913:0.3458	.	.	.	.	X	32	.	.	R	+	1	2	ESPN	6434482	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-5.220000	0.00140	-3.730000	0.00114	-0.479000	0.04858	CGA	ESPN	-	NULL	ENSG00000187017		0.692	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	13	0.00	0	C	NM_031475		6511895	6511895	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434576	ensembl	human	known	69_37n	nonsense	19	45.71	16	SNP	0.000	T
STRIP1	85369	genome.wustl.edu	37	1	110590491	110590492	+	Splice_Site	INS	-	-	GTGA			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:110590491_110590492insGTGA	ENST00000369795.3	+	15	1683	c.1661_1661insGTGA	c.(1660-1662)ccc>cGTGAcc	p.P554fs	STRIP1_ENST00000369796.1_Splice_Site_p.P459fs|STRIP1_ENST00000461054.1_3'UTR	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	554					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GAGGAGATGCCGTGAGTATCAT	0.505																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1661+1->GTGA	1.37:g.110590492_110590495dupGTGA			Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Frame_Shift_Ins	INS	pfam_DUF3402,pfam_N1221	p.T555fs	ENST00000369795.3	37	c.1661_1662	CCDS30798.1	1																																																																																			FAM40A	-	pfam_DUF3402	ENSG00000143093		0.505	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40A	HGNC	protein_coding	OTTHUMT00000032213.1	89	0.00	0	-	NM_033088	Frame_Shift_Ins	110590491	110590492	+1	no_errors	ENST00000369795	ensembl	human	known	69_37n	frame_shift_ins	174	15.94	33	INS	1.000:1.000	GTGA
FDXR	2232	genome.wustl.edu	37	17	72860220	72860220	+	Intron	SNP	G	G	C			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr17:72860220G>C	ENST00000293195.5	-	10	1081				FDXR_ENST00000413947.2_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000582944.1_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000442102.2_Intron|FDXR_ENST00000455107.2_Missense_Mutation_p.P307R|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000581969.1_5'Flank|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000544854.1_Intron	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase						cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	AACACCAGGCGGGTGGCAGAG	0.632																																						dbGAP											0													30.0	34.0	33.0					17																	72860220		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1003-31C>G	17.37:g.72860220G>C			B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.P307R	ENST00000293195.5	37	c.920	CCDS58593.1	17	.	.	.	.	.	.	.	.	.	.	G	3.371	-0.128390	0.06753	.	.	ENSG00000161513	ENST00000455107	T	0.21031	2.03	4.58	1.46	0.22682	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30534	-0.9975	5	.	.	.	.	5.2602	0.15569	0.1808:0.3253:0.494:0.0	.	.	.	.	R	307	ENSP00000390875:P307R	.	P	-	2	0	FDXR	70371815	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.178000	0.16820	0.064000	0.16427	-0.218000	0.12543	CCG	FDXR	-	NULL	ENSG00000161513		0.632	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	HGNC	protein_coding	OTTHUMT00000444449.1	14	0.00	0	G	NM_004110		72860220	72860220	-1	no_errors	ENST00000455107	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	0.000	C
FGD5	152273	genome.wustl.edu	37	3	14860967	14860967	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr3:14860967C>T	ENST00000285046.5	+	1	499	c.389C>T	c.(388-390)gCg>gTg	p.A130V	FGD5_ENST00000543601.1_5'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	130	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTGCAGGAGCGCTGAGCAGG	0.627																																						dbGAP											0													19.0	22.0	21.0					3																	14860967		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.389C>T	3.37:g.14860967C>T	ENSP00000285046:p.Ala130Val		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A130V	ENST00000285046.5	37	c.389	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	C	4.184	0.032734	0.08101	.	.	ENSG00000154783	ENST00000285046	T	0.76709	-1.04	5.76	-7.15	0.01521	.	1.776680	0.02912	N	0.136787	T	0.47266	0.1436	N	0.04880	-0.145	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.53927	-0.8369	10	0.02654	T	1	-0.2799	3.2598	0.06845	0.365:0.3648:0.0642:0.2061	.	130	Q6ZNL6	FGD5_HUMAN	V	130	ENSP00000285046:A130V	ENSP00000285046:A130V	A	+	2	0	FGD5	14835971	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.755000	0.01814	-2.681000	0.00408	-2.589000	0.00165	GCG	FGD5	-	NULL	ENSG00000154783		0.627	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	13	0.00	0	C	NM_152536		14860967	14860967	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	0.000	T
GPR133	283383	genome.wustl.edu	37	12	131488811	131488811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr12:131488811C>T	ENST00000261654.5	+	11	1784	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	GPR133_ENST00000535015.1_Nonsense_Mutation_p.Q441*|GPR133_ENST00000376682.4_Nonsense_Mutation_p.Q95*	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	409					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGCTTCATCCAGATCCCCCA	0.612																																						dbGAP											0													72.0	63.0	66.0					12																	131488811		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1225C>T	12.37:g.131488811C>T	ENSP00000261654:p.Gln409*		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.Q409*	ENST00000261654.5	37	c.1225	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745355	0.69418	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	.	.	.	5.04	0.865	0.19074	.	0.848463	0.10432	N	0.675400	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	8.0308	0.30463	0.0956:0.4732:0.4312:0.0	.	.	.	.	X	409;441;100;105;95	.	ENSP00000261654:Q409X	Q	+	1	0	GPR133	130054764	0.114000	0.22134	0.008000	0.14137	0.022000	0.10575	-0.247000	0.08866	-0.130000	0.11599	-0.416000	0.06073	CAG	GPR133	-	NULL	ENSG00000111452		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	39	0.00	0	C	NM_198827		131488811	131488811	+1	no_errors	ENST00000261654	ensembl	human	known	69_37n	nonsense	69	28.87	28	SNP	0.106	T
HSPG2	3339	genome.wustl.edu	37	1	22180806	22180806	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:22180806C>A	ENST00000374695.3	-	50	6398	c.6319G>T	c.(6319-6321)Gtc>Ttc	p.V2107F	HSPG2_ENST00000430507.1_Missense_Mutation_p.V57F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2107	Ig-like C2-type 6.				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)			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)	GCTGGTGAGACCTGGGGGAGC	0.622																																						dbGAP											0													19.0	16.0	17.0					1																	22180806		2191	4285	6476	-	-	-	SO:0001583	missense	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.6319G>T	1.37:g.22180806C>A	ENSP00000363827:p.Val2107Phe		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	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.V2107F	ENST00000374695.3	37	c.6319	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946351	0.73672	.	.	ENSG00000142798	ENST00000374695;ENST00000430507	T;T	0.72167	-0.63;-0.63	5.56	3.62	0.41486	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.244180	0.21007	N	0.081748	T	0.80149	0.4570	M	0.89715	3.055	0.37003	D	0.89534	P;P	0.50369	0.908;0.934	P;P	0.52598	0.703;0.559	T	0.83105	-0.0126	10	0.39692	T	0.17	.	10.0273	0.42079	0.1423:0.7028:0.1548:0.0	.	47;2107	Q59EG0;P98160	.;PGBM_HUMAN	F	2107;57	ENSP00000363827:V2107F;ENSP00000416385:V57F	ENSP00000363827:V2107F	V	-	1	0	HSPG2	22053393	0.636000	0.27207	0.987000	0.45799	0.725000	0.41563	1.081000	0.30791	2.629000	0.89072	0.655000	0.94253	GTC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000142798		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	12	0.00	0	C	NM_005529		22180806	22180806	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	missense	33	30.61	15	SNP	0.944	A
KIF26B	55083	genome.wustl.edu	37	1	245772787	245772787	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:245772787C>T	ENST00000407071.2	+	8	2311	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	KIF26B_ENST00000366518.4_Missense_Mutation_p.S243F	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	624	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACGGCCAGTCCCCGGGCGTG	0.672																																						dbGAP											0													13.0	17.0	16.0					1																	245772787		1977	4130	6107	-	-	-	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1871C>T	1.37:g.245772787C>T	ENSP00000385545:p.Ser624Phe		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S624F	ENST00000407071.2	37	c.1871	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075099	0.76415	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.19532	2.14;2.14	5.54	5.54	0.83059	Kinesin, motor domain (4);	.	.	.	.	T	0.52306	0.1726	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.55068	-0.8198	9	0.87932	D	0	.	19.8368	0.96660	0.0:1.0:0.0:0.0	.	243;624	B7WPD9;Q2KJY2	.;KI26B_HUMAN	F	624;243;240	ENSP00000385545:S624F;ENSP00000355475:S243F	ENSP00000355475:S243F	S	+	2	0	KIF26B	243839410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.986000	0.70563	2.763000	0.94921	0.650000	0.86243	TCC	KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000162849		0.672	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	17	0.00	0	C	XM_371354		245772787	245772787	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	27	44.90	22	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141130589	141130589	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr2:141130589T>G	ENST00000389484.3	-	69	11727	c.10756A>C	c.(10756-10758)Agc>Cgc	p.S3586R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3586	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTCACAGCTTTTCTCATCT	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													214.0	208.0	210.0					2																	141130589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10756A>C	2.37:g.141130589T>G	ENSP00000374135:p.Ser3586Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S3586R	ENST00000389484.3	37	c.10756	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626175	0.46840	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.67	1.96	0.26148	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.125142	0.51477	U	0.000082	D	0.88392	0.6424	N	0.20685	0.6	0.28148	N	0.929513	B	0.17852	0.024	B	0.17979	0.02	T	0.77239	-0.2661	10	0.22706	T	0.39	.	7.9079	0.29774	0.0:0.0671:0.2606:0.6723	.	3586	Q9NZR2	LRP1B_HUMAN	R	3586;3524	ENSP00000374135:S3586R	ENSP00000374135:S3586R	S	-	1	0	LRP1B	140847059	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.278000	0.51662	0.397000	0.25310	0.533000	0.62120	AGC	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	243	0.41	1	T	NM_018557		141130589	141130589	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	268	36.34	153	SNP	1.000	G
MAGEB3	4114	genome.wustl.edu	37	X	30254466	30254466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chrX:30254466delA	ENST00000361644.2	+	5	1162	c.425delA	c.(424-426)caafs	p.Q142fs		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	142	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAATTGTCCAAAAAAGCCAT	0.358																																						dbGAP											0													89.0	84.0	86.0					X																	30254466		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.425delA	X.37:g.30254466delA	ENSP00000355198:p.Gln142fs		A0AVE4|B3KQ52|O75861	Frame_Shift_Del	DEL	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S144fs	ENST00000361644.2	37	c.425	CCDS14220.1	X																																																																																			MAGEB3	-	pfam_MAGE,pfscan_MAGE	ENSG00000198798		0.358	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	196	0.00	0	A	NM_002365		30254466	30254466	+1	no_errors	ENST00000361644	ensembl	human	known	69_37n	frame_shift_del	251	11.23	32	DEL	0.000	-
MAST1	22983	genome.wustl.edu	37	19	12980054	12980054	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr19:12980054C>A	ENST00000251472.4	+	22	2987	c.2948C>A	c.(2947-2949)gCc>gAc	p.A983D		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A983V(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACACTGCGTGCCATCCGTGTC	0.582																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											71.0	60.0	64.0					19																	12980054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2948C>A	19.37:g.12980054C>A	ENSP00000251472:p.Ala983Asp			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A983D	ENST00000251472.4	37	c.2948	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923180	0.92319	.	.	ENSG00000105613	ENST00000251472	T	0.27104	1.69	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.31166	-0.9953	10	0.87932	D	0	-31.3311	15.5036	0.75719	0.0:1.0:0.0:0.0	.	983	Q9Y2H9	MAST1_HUMAN	D	983	ENSP00000251472:A983D	ENSP00000251472:A983D	A	+	2	0	MAST1	12841054	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.715000	0.84713	2.327000	0.79052	0.462000	0.41574	GCC	MAST1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000105613		0.582	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	37	0.00	0	C	NM_014975		12980054	12980054	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	missense	75	33.91	39	SNP	1.000	A
MTM1	4534	genome.wustl.edu	37	X	149818284	149818284	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chrX:149818284delA	ENST00000370396.2	+	10	1017	c.963delA	c.(961-963)ttafs	p.L321fs	MTM1_ENST00000542741.1_Frame_Shift_Del_p.L226fs|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Frame_Shift_Del_p.L206fs|MTM1_ENST00000413012.2_Frame_Shift_Del_p.L284fs	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	321	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAATCTTTAAAAAAAGTGA	0.353																																						dbGAP											0													98.0	99.0	98.0					X																	149818284		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.963delA	X.37:g.149818284delA	ENSP00000359423:p.Leu321fs		A6NDB1|B7Z491|F2Z330|Q8NEL1	Frame_Shift_Del	DEL	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.V324fs	ENST00000370396.2	37	c.963	CCDS14694.1	X																																																																																			MTM1	-	smart_Tyr_Pase_cat	ENSG00000171100		0.353	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	104	0.00	0	A	NM_000252		149818284	149818284	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	frame_shift_del	186	16.67	38	DEL	1.000	-
MYH13	8735	genome.wustl.edu	37	17	10219317	10219317	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr17:10219317G>A	ENST00000418404.3	-	27	3927	c.3764C>T	c.(3763-3765)aCg>aTg	p.T1255M	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1255M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1255					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCTTCTACCGTCCGGCACGT	0.418																																						dbGAP											0													160.0	152.0	154.0					17																	10219317		1948	4136	6084	-	-	-	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3764C>T	17.37:g.10219317G>A	ENSP00000404570:p.Thr1255Met		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.T1255M	ENST00000418404.3	37	c.3764	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576735	0.65878	.	.	ENSG00000006788	ENST00000252172	D	0.83837	-1.77	4.38	3.39	0.38822	Myosin tail (1);	.	.	.	.	T	0.80292	0.4596	M	0.67625	2.065	0.22581	N	0.998963	P	0.35363	0.497	B	0.32624	0.149	T	0.73723	-0.3893	9	0.52906	T	0.07	.	11.9524	0.52962	0.0857:0.0:0.9142:0.0	.	1255	Q9UKX3	MYH13_HUMAN	M	1255	ENSP00000252172:T1255M	ENSP00000252172:T1255M	T	-	2	0	MYH13	10160042	0.990000	0.36364	0.887000	0.34795	0.784000	0.44337	6.502000	0.73695	2.134000	0.65973	0.563000	0.77884	ACG	MYH13	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000006788		0.418	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	138	0.00	0	G	NM_003802		10219317	10219317	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	missense	66	80.98	281	SNP	0.739	A
MYH7B	57644	genome.wustl.edu	37	20	33577577	33577577	+	Missense_Mutation	SNP	G	G	T	rs374219896		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr20:33577577G>T	ENST00000262873.7	+	18	1840	c.1748G>T	c.(1747-1749)tGc>tTc	p.C583F	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	541	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGGAGGAATGCATGTTCCCC	0.587																																						dbGAP											0													56.0	60.0	59.0					20																	33577577		2200	4300	6500	-	-	-	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1748G>T	20.37:g.33577577G>T	ENSP00000262873:p.Cys583Phe		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C583F	ENST00000262873.7	37	c.1748	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437422	0.83885	.	.	ENSG00000078814	ENST00000262873	D	0.88975	-2.45	4.5	4.5	0.54988	Myosin head, motor domain (3);	0.000000	0.41294	D	0.000908	D	0.97151	0.9069	H	0.99929	4.97	0.80722	D	1	D	0.57257	0.979	P	0.60117	0.869	D	0.99323	1.0907	10	0.87932	D	0	.	17.7562	0.88450	0.0:0.0:1.0:0.0	.	541	A7E2Y1	MYH7B_HUMAN	F	583	ENSP00000262873:C583F	ENSP00000262873:C583F	C	+	2	0	MYH7B	33041238	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	TGC	MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000078814		0.587	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	37	0.00	0	G	NM_020884		33577577	33577577	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	missense	78	18.75	18	SNP	1.000	T
NAA15	80155	genome.wustl.edu	37	4	140280938	140280938	+	Silent	SNP	G	G	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr4:140280938G>A	ENST00000296543.5	+	12	1622	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	NAA15_ENST00000398947.1_Silent_p.E433E	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	433					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGATGGATGAGGCCCAGGCCT	0.398																																						dbGAP											0													100.0	96.0	97.0					4																	140280938		1910	4163	6073	-	-	-	SO:0001819	synonymous_variant	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1299G>A	4.37:g.140280938G>A			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E433	ENST00000296543.5	37	c.1299	CCDS43270.1	4																																																																																			NAA15	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000164134		0.398	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	94	0.00	0	G	NM_057175		140280938	140280938	+1	no_errors	ENST00000296543	ensembl	human	known	69_37n	silent	171	15.35	31	SNP	0.997	A
OBSCN	84033	genome.wustl.edu	37	1	228556454	228556454	+	Missense_Mutation	SNP	G	G	T	rs185398730		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:228556454G>T	ENST00000422127.1	+	89	19843	c.19799G>T	c.(19798-19800)cGg>cTg	p.R6600L	OBSCN_ENST00000570156.2_Missense_Mutation_p.R7557L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R4234L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6600	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATCCTGCCCGGGAAGACATT	0.592																																						dbGAP											0													181.0	189.0	187.0					1																	228556454		2006	4185	6191	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19799G>T	1.37:g.228556454G>T	ENSP00000409493:p.Arg6600Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R6600L	ENST00000422127.1	37	c.19799	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900801	0.72754	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66280	-0.2;-0.2	4.56	2.62	0.31277	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.306574	0.30667	N	0.009124	T	0.53334	0.1790	N	0.05199	-0.095	0.80722	D	1	D	0.63880	0.993	D	0.64144	0.922	T	0.55503	-0.8131	10	0.45353	T	0.12	.	8.5913	0.33688	0.2417:0.0:0.7583:0.0	.	6600	Q5VST9	OBSCN_HUMAN	L	6600;4234	ENSP00000409493:R6600L;ENSP00000355668:R4234L	ENSP00000355668:R4234L	R	+	2	0	OBSCN	226623077	0.816000	0.29132	0.998000	0.56505	0.884000	0.51177	1.905000	0.39878	1.133000	0.42147	0.462000	0.41574	CGG	OBSCN	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000154358		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		61	0.00	0	G	NM_052843		228556454	228556454	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	267	19.09	63	SNP	0.987	T
OR2AG2	338755	genome.wustl.edu	37	11	6789772	6789772	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr11:6789772T>A	ENST00000338569.2	-	1	514	c.417A>T	c.(415-417)agA>agT	p.R139S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCAGCAGACTCTTGGGCTCA	0.522																																						dbGAP											0													100.0	83.0	89.0					11																	6789772		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.417A>T	11.37:g.6789772T>A	ENSP00000342697:p.Arg139Ser			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R139S	ENST00000338569.2	37	c.417	CCDS31413.1	11	.	.	.	.	.	.	.	.	.	.	T	4.273	0.049833	0.08243	.	.	ENSG00000188124	ENST00000338569	T	0.40756	1.02	4.47	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	1.020590	0.07816	N	0.959037	T	0.29914	0.0748	L	0.53617	1.68	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.39702	-0.9601	10	0.59425	D	0.04	.	1.4149	0.02299	0.2365:0.175:0.117:0.4715	.	139	A6NM03	O2AG2_HUMAN	S	139	ENSP00000342697:R139S	ENSP00000342697:R139S	R	-	3	2	OR2AG2	6746348	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-3.569000	0.00428	-0.996000	0.03455	-1.093000	0.02169	AGA	OR2AG2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000188124		0.522	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	HGNC	protein_coding	OTTHUMT00000386775.1	68	0.00	0	T	NM_001004490		6789772	6789772	-1	no_errors	ENST00000338569	ensembl	human	novel	69_37n	missense	53	44.21	42	SNP	0.004	A
PCDHA13	56136	genome.wustl.edu	37	5	140263636	140263636	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr5:140263636C>T	ENST00000289272.2	+	1	1783	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R595C|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	595	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAAGGTGCGCGCGGTGGA	0.711																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0													62.0	68.0	66.0					5																	140263636		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1783C>T	5.37:g.140263636C>T	ENSP00000289272:p.Arg595Cys		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R595C	ENST00000289272.2	37	c.1783	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050109	0.36181	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53423	0.62;0.62	4.21	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74215	0.3687	H	0.95328	3.655	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.954;0.976;0.99	T	0.63541	-0.6614	9	0.54805	T	0.06	.	8.5263	0.33307	0.2771:0.5832:0.1397:0.0	.	595;595;595	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	595	ENSP00000386821:R595C;ENSP00000289272:R595C	ENSP00000289272:R595C	R	+	1	0	PCDHA13	140243820	0.000000	0.05858	1.000000	0.80357	0.525000	0.34531	-0.181000	0.09740	2.144000	0.66660	0.655000	0.94253	CGC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.711	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	19	0.00	0	C	NM_018904		140263636	140263636	+1	no_errors	ENST00000289272	ensembl	human	known	69_37n	missense	39	37.10	23	SNP	0.193	T
JADE3	9767	genome.wustl.edu	37	X	46887478	46887478	+	Silent	SNP	T	T	C			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chrX:46887478T>C	ENST00000218343.4	+	6	958	c.660T>C	c.(658-660)tgT>tgC	p.C220C	PHF16_ENST00000397189.1_Silent_p.C220C	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGGTGTTCTGTGATAAGTGTA	0.488																																						dbGAP											0													369.0	223.0	272.0					X																	46887478		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000218343.4:c.660T>C	X.37:g.46887478T>C				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C220	ENST00000218343.4	37	c.660	CCDS14271.1	X																																																																																			PHF16	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000102221		0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	183	0.54	1	T			46887478	46887478	+1	no_errors	ENST00000218343	ensembl	human	known	69_37n	silent	385	14.03	63	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	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		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	94	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	132	39.45	86	SNP	1.000	G
PRDM5	11107	genome.wustl.edu	37	4	121739601	121739601	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr4:121739601A>T	ENST00000264808.3	-	5	797	c.557T>A	c.(556-558)cTc>cAc	p.L186H	PRDM5_ENST00000515109.1_Missense_Mutation_p.L186H|PRDM5_ENST00000428209.2_Missense_Mutation_p.L186H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	186					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAATGTCTGGAGATGCTCAGC	0.443																																						dbGAP											0													99.0	92.0	95.0					4																	121739601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.557T>A	4.37:g.121739601A>T	ENSP00000264808:p.Leu186His		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.L186H	ENST00000264808.3	37	c.557	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362685	0.82353	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.31247	1.5;1.5;1.5	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.65498	2.005	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.964;0.944;0.964	T	0.52909	-0.8512	10	0.46703	T	0.11	-13.2462	15.2969	0.73916	1.0:0.0:0.0:0.0	.	186;186;186	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	H	186	ENSP00000264808:L186H;ENSP00000422309:L186H;ENSP00000404832:L186H	ENSP00000264808:L186H	L	-	2	0	PRDM5	121959051	1.000000	0.71417	0.790000	0.31976	0.952000	0.60782	7.017000	0.76399	2.022000	0.59522	0.454000	0.30748	CTC	PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2	ENSG00000138738		0.443	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	145	0.00	0	A			121739601	121739601	-1	no_errors	ENST00000264808	ensembl	human	known	69_37n	missense	119	22.73	35	SNP	1.000	T
PRG4	10216	genome.wustl.edu	37	1	186277245	186277245	+	Silent	SNP	C	C	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:186277245C>A	ENST00000445192.2	+	7	2439	c.2394C>A	c.(2392-2394)gcC>gcA	p.A798A	PRG4_ENST00000367486.3_Silent_p.A755A|PRG4_ENST00000367483.4_Silent_p.A757A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.A705A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	798	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGAAGCCTGCCCCCAAGGAGC	0.592																																						dbGAP											0													200.0	221.0	213.0					1																	186277245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2394C>A	1.37:g.186277245C>A			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.A798	ENST00000445192.2	37	c.2394	CCDS1369.1	1																																																																																			PRG4	-	NULL	ENSG00000116690		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	295	0.00	0	C	NM_005807		186277245	186277245	+1	no_errors	ENST00000445192	ensembl	human	known	69_37n	silent	758	18.28	170	SNP	0.093	A
PRX	57716	genome.wustl.edu	37	19	40901124	40901124	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr19:40901124C>A	ENST00000324001.7	-	7	3405	c.3135G>T	c.(3133-3135)ttG>ttT	p.L1045F	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1045					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTGCCCTCCAACTCAGCCA	0.607																																						dbGAP											0													68.0	55.0	60.0					19																	40901124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3135G>T	19.37:g.40901124C>A	ENSP00000326018:p.Leu1045Phe		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1045F	ENST00000324001.7	37	c.3135	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126109	0.37533	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01287	5.05	4.54	-2.27	0.06846	.	0.670270	0.12146	N	0.495367	T	0.02649	0.0080	M	0.66939	2.045	0.80722	D	1	P	0.45474	0.859	P	0.48840	0.592	T	0.57888	-0.7733	10	0.54805	T	0.06	-7.301	4.0908	0.09968	0.4028:0.3635:0.0:0.2337	.	1045	Q9BXM0	PRAX_HUMAN	F	1045	ENSP00000326018:L1045F	ENSP00000326018:L1045F	L	-	3	2	PRX	45592964	0.000000	0.05858	0.491000	0.27477	0.592000	0.36648	-1.788000	0.01763	-0.108000	0.12066	0.313000	0.20887	TTG	PRX	-	NULL	ENSG00000105227		0.607	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	18	0.00	0	C	NM_020956		40901124	40901124	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	0.310	A
RGSL1	353299	genome.wustl.edu	37	1	182517904	182517904	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr1:182517904G>A	ENST00000294854.8	+	17	2898	c.2878G>A	c.(2878-2880)Gtc>Atc	p.V960I	RGSL1_ENST00000542961.1_Intron	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	960					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						AGATCGGAGCGTCTTCCATGG	0.502																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	dbGAP											0													275.0	243.0	252.0					1																	182517904		692	1591	2283	-	-	-	SO:0001583	missense	0			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.2878G>A	1.37:g.182517904G>A	ENSP00000457748:p.Val960Ile		A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam	p.V960I	ENST00000294854.8	37	c.2878	CCDS58049.1	1																																																																																			RGSL1	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000121446		0.502	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	149	0.00	0	G	NM_181572		182517904	182517904	+1	no_errors	ENST00000294854	ensembl	human	known	69_37n	missense	477	17.73	103	SNP	0.043	A
SLC9A4	389015	genome.wustl.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						dbGAP											0													43.0	37.0	39.0					2																	103149137		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs		Q69YK0	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.K798fs	ENST00000295269.4	37	c.2387	CCDS33264.1	2																																																																																			SLC9A4	-	NULL	ENSG00000180251		0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	25	0.00	0	A	NM_001011552.3		103149137	103149137	+1	no_errors	ENST00000295269	ensembl	human	known	69_37n	frame_shift_del	29	11.76	4	DEL	0.597	-
THSD7A	221981	genome.wustl.edu	37	7	11464427	11464427	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr7:11464427G>T	ENST00000423059.4	-	16	3530	c.3279C>A	c.(3277-3279)gaC>gaA	p.D1093E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1093	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGGTTGCAGTCACTGTGGC	0.512										HNSCC(18;0.044)																												dbGAP											0													135.0	126.0	129.0					7																	11464427		2047	4202	6249	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3279C>A	7.37:g.11464427G>T	ENSP00000406482:p.Asp1093Glu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.D1093E	ENST00000423059.4	37	c.3279	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790914	0.31685	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62364	0.03	5.85	4.04	0.47022	.	0.088360	0.85682	D	0.000000	T	0.41789	0.1174	N	0.20845	0.615	0.80722	D	1	B	0.23735	0.09	B	0.32393	0.145	T	0.22730	-1.0208	10	0.02654	T	1	.	7.9835	0.30198	0.1373:0.1325:0.7302:0.0	.	1093	Q9UPZ6	THS7A_HUMAN	E	1093	ENSP00000406482:D1093E	ENSP00000262042:D1093E	D	-	3	2	THSD7A	11430952	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.424000	0.59868	0.811000	0.34303	0.655000	0.94253	GAC	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	88	0.00	0	G	XM_928187.2		11464427	11464427	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	141	30.20	61	SNP	1.000	T
TINAG	27283	genome.wustl.edu	37	6	54214608	54214608	+	Missense_Mutation	SNP	C	C	T	rs35758529		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr6:54214608C>T	ENST00000259782.4	+	7	1090	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	332					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R332W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCGAGGAAAACGGCATGCCAC	0.458																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											155.0	141.0	146.0					6																	54214608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.994C>T	6.37:g.54214608C>T	ENSP00000259782:p.Arg332Trp		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.R332W	ENST00000259782.4	37	c.994	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844446	0.71488	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84223	-1.82	5.87	2.73	0.32206	Peptidase C1A, papain C-terminal (2);	0.166795	0.41712	D	0.000836	D	0.89276	0.6669	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90114	0.4194	10	0.66056	D	0.02	.	12.9501	0.58394	0.4644:0.5356:0.0:0.0	.	332	Q9UJW2	TINAG_HUMAN	W	191;332;11	ENSP00000259782:R332W	ENSP00000259782:R332W	R	+	1	2	TINAG	54322567	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.888000	0.28268	0.758000	0.33059	0.591000	0.81541	CGG	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000137251		0.458	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	72	0.00	0	C	NM_014464		54214608	54214608	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	missense	138	33.01	68	SNP	1.000	T
TMEM247	388946	genome.wustl.edu	37	2	46707884	46707885	+	Missense_Mutation	DNP	AA	AA	GG	rs201742486		TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr2:46707884_46707885AA>GG	ENST00000434431.1	+	2	458_459	c.458_459AA>GG	c.(457-459)cAA>cGG	p.Q153R		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	153						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CAGCTGCAGCAAGAGGCGGCGC	0.678																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707884_46707885delinsGG	ENSP00000388684:p.Gln153Arg			Missense_Mutation|Silent	SNP	NULL	p.Q153R|p.Q153	ENST00000434431.1	37	c.458|c.459	CCDS56117.1	2																																																																																			TMEM247	-	NULL	ENSG00000187600		0.678	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	9|8	0.00	0	A	NM_001145051		46707884|46707885	46707884|46707885	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	missense|silent	33	26.67|25.00	12|11	SNP	0.238|0.091	G
CFAP70	118491	genome.wustl.edu	37	10	75114545	75114545	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr10:75114545C>G	ENST00000310715.3	-	2	130	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Missense_Mutation_p.V4L|TTC18_ENST00000394865.1_Missense_Mutation_p.V4L|TTC18_ENST00000401621.2_Missense_Mutation_p.V4L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		4						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCTGATGGCACTTGCTCCATA	0.438																																						dbGAP											0													136.0	100.0	112.0					10																	75114545		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000310715.3:c.10G>C	10.37:g.75114545C>G	ENSP00000310829:p.Val4Leu		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V4L	ENST00000310715.3	37	c.10	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912119	0.33721	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865;ENST00000394862	T;T;T;T	0.45276	1.9;1.9;0.9;1.48	5.06	-3.1	0.05315	.	1.345790	0.04339	N	0.353764	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.09818	-1.0657	10	0.31617	T	0.26	-0.596	1.6481	0.02766	0.1476:0.2444:0.1447:0.4633	.	4	Q5T0N1	TTC18_HUMAN	L	4	ENSP00000310829:V4L;ENSP00000384479:V4L;ENSP00000343650:V4L;ENSP00000378334:V4L	ENSP00000310829:V4L	V	-	1	0	TTC18	74784551	0.000000	0.05858	0.022000	0.16811	0.338000	0.28826	-0.887000	0.04152	-0.454000	0.07066	0.650000	0.86243	GTG	TTC18	-	NULL	ENSG00000156042		0.438	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		100	0.00	0	C			75114545	75114545	-1	no_errors	ENST00000310715	ensembl	human	known	69_37n	missense	111	36.57	64	SNP	0.003	G
UBC	7316	genome.wustl.edu	37	12	125397945	125397945	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr12:125397945G>C	ENST00000538617.1	-	3	689	c.373C>G	c.(373-375)Cag>Gag	p.Q125E	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.Q125E|UBC_ENST00000536769.1_Missense_Mutation_p.Q125E			P0CG48	UBC_HUMAN	ubiquitin C	505	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTCCAGCTGCTTTCCGGCA	0.542																																						dbGAP											0													144.0	137.0	139.0					12																	125397945		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.373C>G	12.37:g.125397945G>C	ENSP00000443053:p.Gln125Glu		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.Q125E	ENST00000538617.1	37	c.373		12	.	.	.	.	.	.	.	.	.	.	-	14.36	2.510836	0.44660	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000339647;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	4.12	4.12	0.48240	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.56097	U	0.000024	T	0.63546	0.2520	N	0.26092	0.79	0.80722	D	1	B;B;B	0.25955	0.051;0.042;0.138	B;B;B	0.34590	0.186;0.117;0.186	T	0.67169	-0.5738	10	0.87932	D	0	.	15.327	0.74172	0.0:0.0:1.0:0.0	.	214;125;125	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	E	125	ENSP00000441543:Q125E;ENSP00000443053:Q125E;ENSP00000344818:Q125E;ENSP00000442800:Q125E;ENSP00000445337:Q125E;ENSP00000439492:Q125E;ENSP00000438289:Q125E;ENSP00000441238:Q125E	ENSP00000344818:Q125E	Q	-	1	0	UBC	123963898	1.000000	0.71417	0.948000	0.38648	0.858000	0.48976	8.162000	0.89657	2.011000	0.59026	0.650000	0.86243	CAG	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.542	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	185	0.00	0	G	NM_021009		125397945	125397945	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	207	25.54	71	SNP	1.000	C
ZNF841	284371	genome.wustl.edu	37	19	52569631	52569631	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A143-01A-11D-A10Y-09	TCGA-D8-A143-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db1763d1-fcae-4a01-a0cb-3019e292aa10	a8bb9607-a942-4e01-a4e3-faeeff223d0d	g.chr19:52569631C>T	ENST00000426391.2	-	5	1707	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	ZNF841_ENST00000594295.1_Missense_Mutation_p.V502M|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.V502M|ZNF841_ENST00000359973.2_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CTCTGATGCACTGCAAGATGT	0.418																																						dbGAP											0													57.0	51.0	53.0					19																	52569631		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1156G>A	19.37:g.52569631C>T	ENSP00000415453:p.Val386Met		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V502M	ENST00000426391.2	37	c.1504		19	.	.	.	.	.	.	.	.	.	.	C	7.190	0.591292	0.13812	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.07688	3.17;3.17	2.41	-4.81	0.03180	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	L	0.39566	1.225	0.09310	N	0.999991	B;B	0.33904	0.016;0.431	B;B	0.33890	0.006;0.172	T	0.27872	-1.0061	9	0.46703	T	0.11	.	0.551	0.00662	0.3405:0.1951:0.1134:0.351	.	502;386	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	M	502;386	ENSP00000374185:V502M;ENSP00000415453:V386M	ENSP00000374185:V502M	V	-	1	0	ZNF841	57261443	0.000000	0.05858	0.000000	0.03702	0.506000	0.33950	-8.336000	0.00022	-1.325000	0.02269	0.313000	0.20887	GTG	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197608		0.418	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	71	0.00	0	C	XM_209155		52569631	52569631	-1	no_errors	ENST00000389534	ensembl	human	known	69_37n	missense	99	20.80	26	SNP	0.000	T
