#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
ANKRD27	84079	genome.wustl.edu	37	19	33131213	33131214	+	Splice_Site	DEL	CA	CA	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr19:33131213_33131214delCA	ENST00000306065.4	-	11	1140_1141	c.982_983delTG	c.(982-984)tgg>g	p.W328fs	ANKRD27_ENST00000587352.1_Splice_Site_p.W328fs	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	328	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AAAATGTTACCAATTAGGGATC	0.485																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.983+1TG>-	19.37:g.33131213_33131214delCA			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.W328fs	ENST00000306065.4	37	c.983_982	CCDS32986.1	19																																																																																			ANKRD27	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000105186		0.485	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	55	0.00	0	CA	NM_032139	Frame_Shift_Del	33131213	33131214	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	frame_shift_del	17	34.62	9	DEL	1.000:1.000	-
BPIFB3	359710	genome.wustl.edu	37	20	31652537	31652538	+	Frame_Shift_Ins	INS	-	-	C	rs201111989		TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr20:31652537_31652538insC	ENST00000375494.3	+	8	810_811	c.810_811insC	c.(811-813)cccfs	p.P271fs		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	271					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAGCCAAGGTGCCCCCCAAGAA	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.816dupC	20.37:g.31652543_31652543dupC	ENSP00000364643:p.Pro271fs		Q5TDX7	Frame_Shift_Ins	INS	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.K272fs	ENST00000375494.3	37	c.810_811	CCDS13212.1	20																																																																																			BPIFB3	-	superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186190		0.584	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	53	0.00	0	-	NM_182658		31652537	31652538	+1	no_errors	ENST00000375494	ensembl	human	known	69_37n	frame_shift_ins	18	14.29	3	INS	0.996:0.997	C
BRAF	673	genome.wustl.edu	37	7	140439646	140439646	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr7:140439646T>C	ENST00000288602.6	-	17	2153	c.2093A>G	c.(2092-2094)aAa>aGa	p.K698R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCTTTTCTTTTTGAGGCACTC	0.403		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	dbGAP		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													105.0	99.0	101.0					7																	140439646		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.2093A>G	7.37:g.140439646T>C	ENSP00000288602:p.Lys698Arg		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.K698R	ENST00000288602.6	37	c.2093	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.70|18.70	3.679381|3.679381	0.68042|0.68042	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	D|D	0.82167|0.82893	-1.58|-1.66	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70613|0.70613	0.3244|0.3244	N|N	0.11284|0.11284	0.12|0.12	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.15870	.|0.014	T|T	0.68819|0.68819	-0.5308|-0.5308	8|10	0.51188|0.87932	T|D	0.08|0	.|.	14.9145|14.9145	0.70785|0.70785	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|698	.|P15056	.|BRAF_HUMAN	E|R	306|698	ENSP00000419060:K306E|ENSP00000288602:K698R	ENSP00000419060:K306E|ENSP00000288602:K698R	K|K	-|-	1|2	0|0	BRAF|BRAF	140086115|140086115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.997000|7.997000	0.88414|0.88414	1.992000|1.992000	0.58205|0.58205	0.533000|0.533000	0.62120|0.62120	AAA|AAA	BRAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000157764		0.403	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	77	0.00	0	T	NM_004333		140439646	140439646	-1	no_errors	ENST00000288602	ensembl	human	known	69_37n	missense	81	45.27	67	SNP	1.000	C
CCDC176	80127	genome.wustl.edu	37	14	74489668	74489669	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr14:74489668_74489669insC	ENST00000394009.3	+	2	229_230	c.106_107insC	c.(106-108)gccfs	p.A36fs	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	36					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											CAAGGCCAATGCCTCCCTTTGG	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.108dupC	14.37:g.74489670_74489670dupC	ENSP00000377577:p.Ala36fs		Q0P604|Q9H5P8	Frame_Shift_Ins	INS	NULL	p.S37fs	ENST00000394009.3	37	c.106_107	CCDS32119.2	14																																																																																			C14orf45	-	NULL	ENSG00000119636		0.406	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf45	HGNC	protein_coding	OTTHUMT00000327863.1	58	0.00	0	-	NM_025057		74489668	74489669	+1	no_errors	ENST00000394009	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	1.000:0.987	C
CACNA1C	775	genome.wustl.edu	37	12	2786404	2786405	+	Intron	DEL	GG	GG	-	rs200706151	byFrequency	TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr12:2786404_2786405delGG	ENST00000347598.4	+	42	5100				CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399617.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCTGGGGGCGGGCCCACACTC	0.653																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5100+17GG>-	12.37:g.2786404_2786405delGG			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	DEL	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			CACNA1C-AS1	-	-	ENSG00000246627		0.653	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1	47	0.00	0	GG	NM_000719		2786404	2786405	-1	no_errors	ENST00000501371	ensembl	human	known	69_37n	rna	16	67.31	35	DEL	0.000:0.001	-
CACNA1C	775	genome.wustl.edu	37	12	2786413	2786413	+	Intron	DEL	C	C	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr12:2786413delC	ENST00000347598.4	+	42	5100				CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399617.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGCCCACACTCCAGGAAGG	0.647																																						dbGAP											0													20.0	22.0	21.0					12																	2786413		1949	4135	6084	-	-	-	SO:0001627	intron_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5100+26C>-	12.37:g.2786413delC			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	DEL	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			CACNA1C-AS1	-	-	ENSG00000246627		0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1	44	0.00	0	C	NM_000719		2786413	2786413	-1	no_errors	ENST00000501371	ensembl	human	known	69_37n	rna	13	72.92	35	DEL	0.001	-
COL8A1	1295	genome.wustl.edu	37	3	99514533	99514534	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr3:99514533_99514534insC	ENST00000261037.3	+	5	2168_2169	c.1788_1789insC	c.(1789-1791)cccfs	p.P597fs	COL8A1_ENST00000273342.4_Frame_Shift_Ins_p.P597fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	597	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATGC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1795dupC	3.37:g.99514540_99514540dupC	ENSP00000261037:p.Pro597fs		D3DN42|Q53XI6|Q96D07	Frame_Shift_Ins	INS	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.H598fs	ENST00000261037.3	37	c.1788_1789	CCDS2934.1	3																																																																																			COL8A1	-	NULL	ENSG00000144810		0.614	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	59	0.00	0	-	NM_001850		99514533	99514534	+1	no_errors	ENST00000261037	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	0.906:0.314	C
CPA2	1358	genome.wustl.edu	37	7	129915037	129915037	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr7:129915037C>A	ENST00000222481.4	+	6	590	c.535C>A	c.(535-537)Cat>Aat	p.H179N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	179	Substrate binding. {ECO:0000250}.				protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGCTGGGATCCATGCTCGAGA	0.522																																						dbGAP											0													156.0	131.0	140.0					7																	129915037		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.535C>A	7.37:g.129915037C>A	ENSP00000222481:p.His179Asn		A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.H179N	ENST00000222481.4	37	c.535	CCDS5817.2	7	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762408	0.89932	.	.	ENSG00000158516	ENST00000222481	T	0.61627	0.09	5.14	5.14	0.70334	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	H	0.99368	4.535	0.80722	D	1	D;D	0.62365	0.985;0.991	D;D	0.70487	0.969;0.957	D	0.92313	0.5859	10	0.72032	D	0.01	.	17.7844	0.88533	0.0:1.0:0.0:0.0	.	177;179	B4DDX9;P48052	.;CBPA2_HUMAN	N	179	ENSP00000222481:H179N	ENSP00000222481:H179N	H	+	1	0	CPA2	129702273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.687000	0.91594	0.655000	0.94253	CAT	CPA2	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	ENSG00000158516		0.522	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA2	HGNC	protein_coding	OTTHUMT00000347124.2	126	0.00	0	C	NM_001869		129915037	129915037	+1	no_errors	ENST00000222481	ensembl	human	known	69_37n	missense	376	18.79	87	SNP	1.000	A
BRINP1	1620	genome.wustl.edu	37	9	121976161	121976162	+	Intron	INS	-	-	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr9:121976161_121976162insC	ENST00000265922.3	-	6	1384				BRINP1_ENST00000373964.2_Frame_Shift_Ins_p.P320fs	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1						cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TTGGCTCAAGGCCACTCATGCA	0.51																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.922+34->G	9.37:g.121976163_121976163dupC			Q6IPV6|Q6P1A0|Q8WU22	Frame_Shift_Ins	INS	pfam_MACPF,smart_MACPF	p.P319fs	ENST00000265922.3	37	c.958_957	CCDS6822.1	9																																																																																			DBC1	-	NULL	ENSG00000078725		0.510	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	52	0.00	0	-	NM_014618		121976161	121976162	-1	no_errors	ENST00000373964	ensembl	human	known	69_37n	frame_shift_ins	52	10.34	6	INS	0.001:0.000	C
ELN	2006	genome.wustl.edu	37	7	73452051	73452051	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr7:73452051G>C	ENST00000252034.7	+	4	577	c.178G>C	c.(178-180)Ggc>Cgc	p.G60R	ELN_ENST00000320492.7_Missense_Mutation_p.G60R|ELN_ENST00000458204.1_Missense_Mutation_p.G50R|ELN_ENST00000357036.5_Missense_Mutation_p.G60R|ELN_ENST00000380584.4_Missense_Mutation_p.G60R|ELN_ENST00000445912.1_Missense_Mutation_p.G60R|ELN_ENST00000429192.1_Missense_Mutation_p.G60R|ELN_ENST00000414324.1_Missense_Mutation_p.G50R|ELN_ENST00000358929.4_Missense_Mutation_p.G60R|ELN_ENST00000380553.4_Missense_Mutation_p.G60R|ELN_ENST00000380575.4_Missense_Mutation_p.G50R|ELN_ENST00000380562.4_Missense_Mutation_p.G60R|ELN_ENST00000380576.5_Missense_Mutation_p.G60R|ELN_ENST00000320399.6_Missense_Mutation_p.G60R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	60					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGGGCCTGGAGGCAAACCTCT	0.587			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															dbGAP		Dom	yes		7	7q11.23	2006	elastin	yes	L	0													78.0	58.0	65.0					7																	73452051		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.178G>C	7.37:g.73452051G>C	ENSP00000252034:p.Gly60Arg		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G60R	ENST00000252034.7	37	c.178	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349776	0.24426	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380553;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;D;T;T;T;T;T;T;T;D;T;T	0.96232	0.17;0.93;0.15;-1.29;1.03;0.51;-3.95;-1.29;0.94;-1.29;0.23;-1.29;0.93;0.18;-3.95;0.94;0.15	5.13	4.24	0.50183	.	.	.	.	.	D	0.96334	0.8804	L	0.59436	1.845	0.29699	N	0.84031	P;D;P;P;P;P;P;P;P;P;P;P;P;P	0.55385	0.95;0.971;0.911;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.55455	0.776;0.718;0.702;0.776;0.776;0.776;0.776;0.776;0.776;0.776;0.776;0.702;0.776;0.776	D	0.93007	0.6428	9	0.72032	D	0.01	-0.0051	9.7828	0.40658	0.097:0.0:0.903:0.0	.	60;60;60;50;50;60;50;60;60;60;60;50;60;60	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	60;60;60;50;60;60;60;50;60;50;60;50;60;60;60;60;60;60;60;60;60	ENSP00000389857:G60R;ENSP00000252034:G60R;ENSP00000351807:G60R;ENSP00000394549:G50R;ENSP00000315607:G60R;ENSP00000406949:G60R;ENSP00000389206:G60R;ENSP00000392575:G50R;ENSP00000369936:G60R;ENSP00000369949:G50R;ENSP00000369958:G60R;ENSP00000403162:G50R;ENSP00000349540:G60R;ENSP00000391129:G60R;ENSP00000369926:G60R;ENSP00000369950:G60R;ENSP00000313565:G60R	ENSP00000252034:G60R	G	+	1	0	ELN	73089987	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	3.324000	0.52022	1.290000	0.44636	0.313000	0.20887	GGC	ELN	-	NULL	ENSG00000049540		0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	77	0.00	0	G	NM_000501		73452051	73452051	+1	no_errors	ENST00000358929	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	C
ESRP2	80004	genome.wustl.edu	37	16	68266395	68266395	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr16:68266395G>T	ENST00000565858.1	-	8	949	c.863C>A	c.(862-864)gCa>gAa	p.A288E	ESRP2_ENST00000473183.2_Missense_Mutation_p.A278E	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	288	RRM 1.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GAGGCAGAGTGCTACACCACC	0.647																																						dbGAP											0													66.0	63.0	64.0					16																	68266395		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.863C>A	16.37:g.68266395G>T	ENSP00000454554:p.Ala288Glu		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.A288E	ENST00000565858.1	37	c.863		16	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694183	0.88735	.	.	ENSG00000103067	ENST00000473183	T	0.07216	3.21	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	M	0.72479	2.2	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.74674	0.984;0.98	T	0.00284	-1.1848	10	0.52906	T	0.07	-14.597	19.9616	0.97254	0.0:0.0:1.0:0.0	.	288;278	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	E	278	ENSP00000418748:A278E	ENSP00000418748:A278E	A	-	2	0	ESRP2	66823896	1.000000	0.71417	0.979000	0.43373	0.966000	0.64601	9.807000	0.99171	2.724000	0.93272	0.561000	0.74099	GCA	ESRP2	-	smart_RRM_dom	ENSG00000103067		0.647	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	80	0.00	0	G	NM_024939		68266395	68266395	-1	no_errors	ENST00000565858	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92532819	92532819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr11:92532819delG	ENST00000298047.6	+	9	6657	c.6640delG	c.(6640-6642)gaafs	p.E2214fs	FAT3_ENST00000525166.1_Frame_Shift_Del_p.E2064fs|FAT3_ENST00000409404.2_Frame_Shift_Del_p.E2214fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2214	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACCAGTCCAGAAGGCCAAGG	0.423										TCGA Ovarian(4;0.039)																												dbGAP											0													48.0	47.0	47.0					11																	92532819		1944	4158	6102	-	-	-	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6640delG	11.37:g.92532819delG	ENSP00000298047:p.Glu2214fs		B5MDB0|Q96AU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E2214fs	ENST00000298047.6	37	c.6640		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		37	0.00	0	G	NM_001008781		92532819	92532819	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	frame_shift_del	35	41.79	28	DEL	1.000	-
FGF9	2254	genome.wustl.edu	37	13	22255226	22255226	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr13:22255226G>A	ENST00000382353.5	+	2	853	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	108					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R108Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GTCAGCATTCGAGGCGTGGAC	0.488																																					Melanoma(195;1939 2127 12623 13963 52730)	dbGAP											1	Substitution - Missense(1)	skin(1)											147.0	137.0	140.0					13																	22255226		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.323G>A	13.37:g.22255226G>A	ENSP00000371790:p.Arg108Gln		A8K427|Q3SY32	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.R108Q	ENST00000382353.5	37	c.323	CCDS9298.1	13	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945883	0.92593	.	.	ENSG00000102678	ENST00000382353	D	0.82711	-1.64	5.62	5.62	0.85841	.	0.204155	0.34700	N	0.003753	T	0.77857	0.4193	L	0.43152	1.355	0.54753	D	0.999988	P	0.43826	0.818	B	0.35899	0.213	T	0.78247	-0.2278	10	0.38643	T	0.18	.	19.635	0.95728	0.0:0.0:1.0:0.0	.	108	P31371	FGF9_HUMAN	Q	108	ENSP00000371790:R108Q	ENSP00000371790:R108Q	R	+	2	0	FGF9	21153226	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.293000	0.72731	2.804000	0.96469	0.655000	0.94253	CGA	FGF9	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	ENSG00000102678		0.488	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	225	0.00	0	G			22255226	22255226	+1	no_errors	ENST00000382353	ensembl	human	known	69_37n	missense	186	11.85	25	SNP	1.000	A
HOXA10	3206	genome.wustl.edu	37	7	27208959	27208959	+	IGR	DEL	G	G	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr7:27208959delG	ENST00000283921.4	-	0	2541				MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_5'UTR	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						AAAGCCGGCCGGCTGGCAAAG	0.667																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436		7.37:g.27208959delG			O43370|O43605|Q15949|Q504T1	RNA	DEL	-	NULL	ENST00000283921.4	37	NULL	CCDS5410.2	7																																																																																			HOXA9	-	-	ENSG00000078399		0.667	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358724.2	21	0.00	0	G			27208959	27208959	-1	no_errors	ENST00000497089	ensembl	human	known	69_37n	rna	8	20.00	2	DEL	0.001	-
KIAA1107	23285	genome.wustl.edu	37	1	92649706	92649706	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr1:92649706delT	ENST00000370378.4	+	9	3982	c.3884delT	c.(3883-3885)ctafs	p.L1297fs	KIAA1107_ENST00000409154.4_Frame_Shift_Del_p.L1352fs	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	1352										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						AATCAGACACTACTTTTAGCA	0.393																																						dbGAP											0													110.0	86.0	93.0					1																	92649706		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.3884delT	1.37:g.92649706delT	ENSP00000359404:p.Leu1297fs		O14767|Q8N3X7	Frame_Shift_Del	DEL	NULL	p.L1350fs	ENST00000370378.4	37	c.4049	CCDS44172.1	1																																																																																			KIAA1107	-	NULL	ENSG00000069712		0.393	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	71	0.00	0	T	XM_034086		92649706	92649706	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	frame_shift_del	63	37.00	37	DEL	1.000	-
KLHL34	257240	genome.wustl.edu	37	X	21674481	21674481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chrX:21674481delC	ENST00000379499.2	-	1	1967	c.1426delG	c.(1426-1428)gtgfs	p.V476fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	476						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GAGATGTACACAACACCGCGG	0.692																																						dbGAP											0													16.0	11.0	13.0					X																	21674481		2188	4271	6459	-	-	-	SO:0001589	frameshift_variant	0			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1426delG	X.37:g.21674481delC	ENSP00000368813:p.Val476fs			Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V476fs	ENST00000379499.2	37	c.1426	CCDS14199.1	X																																																																																			KLHL34	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000185915		0.692	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1	28	0.00	0	C	NM_153270		21674481	21674481	-1	no_errors	ENST00000379499	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.031	-
LRIG1	26018	genome.wustl.edu	37	3	66436432	66436433	+	Frame_Shift_Ins	INS	-	-	C	rs568492342	byFrequency	TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr3:66436432_66436433insC	ENST00000273261.3	-	13	2285_2286	c.1761_1762insG	c.(1759-1764)tattcafs	p.S588fs	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Frame_Shift_Ins_p.S612fs|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	588	Ig-like C2-type 1.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCCTTATGTGAATAGGTGGAGC	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1761_1762insG	3.37:g.66436432_66436433insC	ENSP00000273261:p.Ser588fs		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S587fs	ENST00000273261.3	37	c.1762_1761	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000144749		0.505	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	122	0.00	0	-	NM_015541		66436432	66436433	-1	no_errors	ENST00000273261	ensembl	human	known	69_37n	frame_shift_ins	164	43.64	127	INS	1.000:1.000	C
LRRN4	164312	genome.wustl.edu	37	20	6025283	6025283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr20:6025283G>A	ENST00000378858.4	-	4	1128	c.904C>T	c.(904-906)Cag>Tag	p.Q302*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	302					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GATAGGACCTGGGAGGAATCC	0.433																																						dbGAP											0													61.0	60.0	60.0					20																	6025283		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.904C>T	20.37:g.6025283G>A	ENSP00000368135:p.Gln302*		A8K258|Q5JWV6|Q9H419	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q302*	ENST00000378858.4	37	c.904	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635385	0.87760	.	.	ENSG00000125872	ENST00000378858	.	.	.	5.65	4.7	0.59300	.	0.966173	0.08498	N	0.936895	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-13.564	6.0686	0.19877	0.0765:0.1437:0.6478:0.1319	.	.	.	.	X	302	.	ENSP00000368135:Q302X	Q	-	1	0	LRRN4	5973283	0.989000	0.36119	1.000000	0.80357	0.185000	0.23345	1.047000	0.30367	2.662000	0.90505	0.591000	0.81541	CAG	LRRN4	-	NULL	ENSG00000125872		0.433	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	222	0.45	1	G	NM_152611		6025283	6025283	-1	no_errors	ENST00000378858	ensembl	human	known	69_37n	nonsense	53	68.45	115	SNP	0.919	A
PITPNC1	26207	genome.wustl.edu	37	17	65467663	65467664	+	Intron	INS	-	-	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr17:65467663_65467664insC	ENST00000581322.1	+	2	48				PITPNC1_ENST00000335257.6_Intron|PITPNC1_ENST00000580974.1_Intron|MIR548AA2_ENST00000384955.2_RNA|PITPNC1_ENST00000299954.9_Intron			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			aatggcaaaaaccacaattact	0.312																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.49-61254->C	17.37:g.65467665_65467665dupC			A8K473|J3QR20|Q96I07	RNA	INS	-	NULL	ENST00000581322.1	37	NULL	CCDS58588.1	17																																																																																			MIR548D2	-	-	ENSG00000207688		0.312	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR548D2	HGNC	protein_coding	OTTHUMT00000447194.1	113	0.00	0	-	NM_012417		65467663	65467664	+1	no_errors	ENST00000384955	ensembl	human	known	69_37n	rna	3	50.00	3	INS	0.295:0.292	C
MTUS2	23281	genome.wustl.edu	37	13	29599116	29599117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr13:29599116_29599117insC	ENST00000431530.3	+	1	369_370	c.311_312insC	c.(310-315)agcctgfs	p.L105fs		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	95						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCTCTGCCAGCCTGAAAGATT	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.313dupC	13.37:g.29599118_29599118dupC	ENSP00000392057:p.Leu105fs		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Frame_Shift_Ins	INS	NULL	p.L105fs	ENST00000431530.3	37	c.311_312	CCDS45022.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.475	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	108	0.00	0	-	XM_166270		29599116	29599117	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.478:0.460	C
MYH13	8735	genome.wustl.edu	37	17	10216067	10216068	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr17:10216067_10216068insT	ENST00000418404.3	-	30	4351_4352	c.4188_4189insA	c.(4186-4191)aaactgfs	p.L1397fs	MYH13_ENST00000252172.4_Frame_Shift_Ins_p.L1397fs|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1397					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)	p.L1397fs*74(2)		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						CTCTGGGCCAGTTTTTTCCTAC	0.495																																						dbGAP											2	Insertion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	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.4189dupA	17.37:g.10216073_10216073dupT	ENSP00000404570:p.Leu1397fs		O95252|Q9P0U8	Frame_Shift_Ins	INS	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.L1396fs	ENST00000418404.3	37	c.4189_4188	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.495	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	134	0.00	0	-	NM_003802		10216067	10216068	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	frame_shift_ins	61	22.78	18	INS	1.000:0.998	T
PLEKHH1	57475	genome.wustl.edu	37	14	68038517	68038517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr14:68038517delT	ENST00000329153.5	+	10	1615	c.1483delT	c.(1483-1485)tctfs	p.S495fs		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	495						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTCCTCTGGGTCTGACGATGA	0.587											OREG0022748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	86.0	85.0					14																	68038517		2058	4204	6262	-	-	-	SO:0001589	frameshift_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1483delT	14.37:g.68038517delT	ENSP00000330278:p.Ser495fs	1104	A6H8X6|Q6PJL4|Q6ZWC7	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S495fs	ENST00000329153.5	37	c.1483	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL	ENSG00000054690		0.587	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	95	0.00	0	T	XM_031054		68038517	68038517	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	frame_shift_del	41	33.85	22	DEL	1.000	-
PMPCA	23203	genome.wustl.edu	37	9	139316462	139316462	+	Intron	SNP	A	A	C			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr9:139316462A>C	ENST00000371717.3	+	12	1417				PMPCA_ENST00000399219.3_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGGCTGCCGCAGGCCTCGGCC	0.667																																						dbGAP											0													18.0	15.0	16.0					9																	139316462		2189	4282	6471	-	-	-	SO:0001627	intron_variant	0			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1408+34A>C	9.37:g.139316462A>C			B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.Q189P	ENST00000371717.3	37	c.566	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	A	7.505	0.653542	0.14580	.	.	ENSG00000165688	ENST00000444897	T	0.33216	1.42	1.92	-1.91	0.07641	.	.	.	.	.	T	0.19604	0.0471	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30851	-0.9964	5	.	.	.	.	5.3131	0.15841	0.523:0.0:0.477:0.0	.	.	.	.	P	189	ENSP00000408393:Q189P	.	Q	+	2	0	PMPCA	138436283	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.259000	0.00536	-0.466000	0.06943	0.459000	0.35465	CAG	PMPCA	-	NULL	ENSG00000165688		0.667	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	9	0.00	0	A	NM_015160		139316462	139316462	+1	no_start_codon	ENST00000444897	ensembl	human	known	69_37n	missense	4	90.48	38	SNP	0.000	C
POLR3GL	84265	genome.wustl.edu	37	1	145457994	145457994	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr1:145457994C>T	ENST00000369314.1	-	4	372	c.266G>A	c.(265-267)cGt>cAt	p.R89H	POLR3GL_ENST00000369313.3_Intron	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	89					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCTGAATAACGCTCCACATC	0.473																																						dbGAP											0													152.0	124.0	134.0					1																	145457994		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.266G>A	1.37:g.145457994C>T	ENSP00000358320:p.Arg89His		B1MVG5	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.R89H	ENST00000369314.1	37	c.266	CCDS914.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991228	0.74703	.	.	ENSG00000121851	ENST00000369314	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.92268	3.29	0.80722	D	1	B	0.31290	0.318	B	0.27796	0.083	T	0.75121	-0.3429	9	0.87932	D	0	-8.3991	16.5383	0.84377	0.0:1.0:0.0:0.0	.	89	Q9BT43	RPC7L_HUMAN	H	89	.	ENSP00000358320:R89H	R	-	2	0	POLR3GL	144169351	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.134000	0.71689	2.760000	0.94817	0.655000	0.94253	CGT	POLR3GL	-	pfam_RNA_pol_III_Rpc31	ENSG00000121851		0.473	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3GL	HGNC	protein_coding	OTTHUMT00000038510.1	115	0.00	0	C	NM_032305		145457994	145457994	-1	no_errors	ENST00000369314	ensembl	human	known	69_37n	missense	161	11.05	20	SNP	1.000	T
PPP1R3F	89801	genome.wustl.edu	37	X	49126982	49126983	+	Frame_Shift_Ins	INS	-	-	G	rs180878665		TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chrX:49126982_49126983insG	ENST00000055335.6	+	1	666_667	c.650_651insG	c.(649-654)atcctgfs	p.IL217fs	LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000438316.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	217	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGAGATCCCATCCTGGATCCGG	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	Exception_encountered	X.37:g.49126982_49126983insG	ENSP00000055335:p.Ile217fs		A2VDJ8|B3KPW2|E9PCM3	Frame_Shift_Ins	INS	pfam_CBM_21,pfscan_CBM_21	p.I217fs	ENST00000055335.6	37	c.650_651	CCDS35254.1	X																																																																																			PPP1R3F	-	pfam_CBM_21,pfscan_CBM_21	ENSG00000049769		0.713	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	20	0.00	0	-	NM_033215		49126982	49126983	+1	no_errors	ENST00000055335	ensembl	human	known	69_37n	frame_shift_ins	7	46.15	6	INS	1.000:0.999	G
PRKCD	5580	genome.wustl.edu	37	3	53217170	53217171	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr3:53217170_53217171insG	ENST00000394729.2	+	7	933_934	c.605_606insG	c.(604-609)gacaagfs	p.DK202fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.DK202fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	202					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AAATGCATCGACAAGATCATCG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	Exception_encountered	3.37:g.53217170_53217171insG	ENSP00000378217:p.Asp202fs		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D202fs	ENST00000394729.2	37	c.605_606	CCDS2870.1	3																																																																																			PRKCD	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000163932		0.614	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	84	0.00	0	-			53217170	53217171	+1	no_errors	ENST00000330452	ensembl	human	known	69_37n	frame_shift_ins	41	50.00	41	INS	1.000:1.000	G
RALGAPA2	57186	genome.wustl.edu	37	20	20517353	20517353	+	Silent	SNP	G	G	A			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr20:20517353G>A	ENST00000202677.7	-	25	3368	c.3361C>T	c.(3361-3363)Ctg>Ttg	p.L1121L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1121					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACTGACTGCAGTAAAGGAATC	0.453																																						dbGAP											0													69.0	71.0	70.0					20																	20517353		1911	4126	6037	-	-	-	SO:0001819	synonymous_variant	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3361C>T	20.37:g.20517353G>A			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L1121	ENST00000202677.7	37	c.3361	CCDS46584.1	20																																																																																			RALGAPA2	-	superfamily_ARM-type_fold	ENSG00000188559		0.453	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	148	0.00	0	G	NM_020343		20517353	20517353	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	silent	74	26.00	26	SNP	0.836	A
SLC2A5	6518	genome.wustl.edu	37	1	9101751	9101751	+	Intron	SNP	G	G	A			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr1:9101751G>A	ENST00000377424.4	-	5	751				SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.L222F	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5						carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCAGAAAGTCCTGTCCTG	0.587																																						dbGAP											0													66.0	67.0	66.0					1																	9101751		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.571+92C>T	1.37:g.9101751G>A			Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Fru_transpt_5,prints_Sugar/inositol_transpt	p.L222F	ENST00000377424.4	37	c.664	CCDS99.1	1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055022	0.36277	.	.	ENSG00000142583	ENST00000377414	D	0.86627	-2.15	3.77	-3.86	0.04230	.	.	.	.	.	T	0.74794	0.3763	.	.	.	0.09310	N	1	B	0.33135	0.399	B	0.31245	0.126	T	0.63875	-0.6538	8	0.87932	D	0	.	0.7578	0.01001	0.409:0.1388:0.2502:0.202	.	222	P22732-2	.	F	222	ENSP00000366631:L222F	ENSP00000366631:L222F	L	-	1	0	SLC2A5	9024338	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.131000	0.10482	-0.828000	0.04273	0.655000	0.94253	CTT	SLC2A5	-	pfscan_MFS_dom	ENSG00000142583		0.587	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A5	HGNC	protein_coding	OTTHUMT00000004932.1	75	0.00	0	G	NM_003039		9101751	9101751	-1	no_errors	ENST00000377414	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.000	A
SORL1	6653	genome.wustl.edu	37	11	121466411	121466411	+	Silent	SNP	G	G	T	rs560299380		TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr11:121466411G>T	ENST00000260197.7	+	32	4578	c.4449G>T	c.(4447-4449)acG>acT	p.T1483T	SORL1_ENST00000532694.1_Silent_p.T329T|SORL1_ENST00000525532.1_Silent_p.T427T|SORL1_ENST00000527934.1_Silent_p.T98T|SORL1_ENST00000534286.1_Silent_p.T393T	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1483	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AACCGAAGACGTGTATTCCCA	0.532																																						dbGAP											0													65.0	51.0	56.0					11																	121466411		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4449G>T	11.37:g.121466411G>T			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T1483	ENST00000260197.7	37	c.4449	CCDS8436.1	11																																																																																			SORL1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000137642		0.532	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	64	0.00	0	G	NM_003105		121466411	121466411	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	0.996	T
STARD9	57519	genome.wustl.edu	37	15	42986022	42986023	+	In_Frame_Ins	INS	-	-	CAG			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr15:42986022_42986023insCAG	ENST00000290607.7	+	23	12303_12304	c.12246_12247insCAG	c.(12247-12249)cag>CAGcag	p.4083_4083Q>QQ		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	4083					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GGGGAGGCCTCCAGCACCTCAG	0.589																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.12247_12249dupCAG	15.37:g.42986023_42986025dupCAG	ENSP00000290607:p.Gln4083dup		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	In_Frame_Ins	INS	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.4083in_frame_insQ	ENST00000290607.7	37	c.12246_12247	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.589	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	18	0.00	0	-			42986022	42986023	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	in_frame_ins	8	52.94	9	INS	0.000:0.001	CAG
TBX10	347853	genome.wustl.edu	37	11	67402624	67402625	+	Frame_Shift_Ins	INS	-	-	CAGG			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr11:67402624_67402625insCAGG	ENST00000335385.3	-	2	204_205	c.117_118insCCTG	c.(115-120)ccttgcfs	p.C40fs		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	40					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GAGCTGGTGCAAGGGCCTGATG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.117_118insCCTG	11.37:g.67402624_67402625insCAGG	ENSP00000335191:p.Cys40fs		Q14D64|Q86XS3	Frame_Shift_Ins	INS	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.C39fs	ENST00000335385.3	37	c.118_117	CCDS31621.1	11																																																																																			TBX10	-	NULL	ENSG00000167800		0.639	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	26	0.00	0	-	NM_005995		67402624	67402625	-1	no_errors	ENST00000335385	ensembl	human	known	69_37n	frame_shift_ins	47	44.71	38	INS	0.101:0.090	CAGG
TNRC6C	57690	genome.wustl.edu	37	17	76079237	76079237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr17:76079237delA	ENST00000588061.1	+	13	4194	c.3467delA	c.(3466-3468)cagfs	p.Q1156fs	TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.Q1156fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.Q1153fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.Q1153fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.Q1153fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.Q1156fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1156					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGCTCTATCAGCTGCAGCTG	0.483																																						dbGAP											0													71.0	72.0	72.0					17																	76079237		2022	4191	6213	-	-	-	SO:0001589	frameshift_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3467delA	17.37:g.76079237delA	ENSP00000468647:p.Gln1156fs		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q1153fs	ENST00000588061.1	37	c.3458	CCDS45798.1	17																																																																																			TNRC6C	-	NULL	ENSG00000078687		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	49	0.00	0	A	NM_018996		76079237	76079237	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	frame_shift_del	23	73.33	66	DEL	1.000	-
ZNF791	163049	genome.wustl.edu	37	19	12739046	12739046	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FN-01A-11W-A050-09	TCGA-AN-A0FN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f583981-b257-43ee-9c9e-71a192a49d38	cab9af86-5f00-4d36-8d62-424add7d7492	g.chr19:12739046G>A	ENST00000343325.4	+	4	865	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.E126K|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Missense_Mutation_p.E203K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCGAGTACACGAAAGAACTCA	0.428																																						dbGAP											0													58.0	55.0	56.0					19																	12739046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.703G>A	19.37:g.12739046G>A	ENSP00000342974:p.Glu235Lys		B7Z586|Q8NC99	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.E235K	ENST00000343325.4	37	c.703	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866550	0.17250	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07327	3.2;3.2;3.2	1.83	0.752	0.18398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.37750	1.13	0.22156	N	0.999325	D	0.89917	1.0	D	0.72625	0.978	T	0.31110	-0.9955	9	0.26408	T	0.33	.	2.732	0.05230	0.2064:0.3127:0.4809:0.0	.	235	Q3KP31	ZN791_HUMAN	K	235;217;203;126	ENSP00000342974:E235K;ENSP00000441761:E203K;ENSP00000441038:E126K	ENSP00000342974:E235K	E	+	1	0	ZNF791	12600046	0.000000	0.05858	0.939000	0.37840	0.693000	0.40251	0.330000	0.19715	1.007000	0.39238	0.491000	0.48974	GAA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.428	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	65	0.00	0	G	NM_153358		12739046	12739046	+1	no_errors	ENST00000343325	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	0.476	A
