#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
SMIM14	201895	genome.wustl.edu	37	4	39558097	39558097	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr4:39558097G>A	ENST00000295958.5	-	4	604	c.218C>T	c.(217-219)cCt>cTt	p.P73L	UGDH-AS1_ENST00000504032.1_RNA|SMIM14_ENST00000510628.1_5'UTR|SMIM14_ENST00000511809.1_Intron	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14	73						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TCTTAGATTAGGAGGTCTCAG	0.433																																						dbGAP											0													123.0	110.0	114.0					4																	39558097		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 34"""	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.218C>T	4.37:g.39558097G>A	ENSP00000295958:p.Pro73Leu			Missense_Mutation	SNP	pfam_Uncharacterised_CD034/YQF4	p.P73L	ENST00000295958.5	37	c.218	CCDS3456.1	4	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546419	0.27652	.	.	ENSG00000163683	ENST00000295958;ENST00000505729	.	.	.	5.28	4.24	0.50183	.	0.546870	0.18033	N	0.153860	T	0.43166	0.1235	.	.	.	0.37760	D	0.926296	B	0.21821	0.061	B	0.18871	0.023	T	0.43605	-0.9381	8	0.37606	T	0.19	-10.832	8.1952	0.31392	0.0978:0.2685:0.6336:0.0	.	73	Q96QK8	CD034_HUMAN	L	73	.	ENSP00000295958:P73L	P	-	2	0	C4orf34	39234492	0.974000	0.33945	0.993000	0.49108	0.897000	0.52465	2.889000	0.48601	2.446000	0.82766	0.655000	0.94253	CCT	C4orf34	-	pfam_Uncharacterised_CD034/YQF4	ENSG00000163683		0.433	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C4orf34	HGNC	protein_coding	OTTHUMT00000250434.4	33	0.00	0	G	NM_174921		39558097	39558097	-1	no_errors	ENST00000295958	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.662	A
CMBL	134147	genome.wustl.edu	37	5	10288580	10288580	+	Missense_Mutation	SNP	T	T	C	rs199662372		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr5:10288580T>C	ENST00000296658.3	-	3	697	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	93						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TCAGGGAAGATAGACCAGTCG	0.498													T|||	1	0.000199681	0.0	0.0	5008	,	,		18970	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													117.0	112.0	114.0					5																	10288580		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.277A>G	5.37:g.10288580T>C	ENSP00000296658:p.Ile93Val		D3DTC7|Q8TED6	Missense_Mutation	SNP	pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase	p.I93V	ENST00000296658.3	37	c.277	CCDS3878.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	5.849	0.340908	0.11069	.	.	ENSG00000164237	ENST00000296658	T	0.41758	0.99	5.48	3.03	0.35002	Dienelactone hydrolase (1);	0.191627	0.43747	D	0.000526	T	0.25827	0.0629	N	0.22421	0.69	0.09310	N	0.999991	B	0.16396	0.017	B	0.18561	0.022	T	0.15665	-1.0429	10	0.39692	T	0.17	-2.8386	6.6881	0.23156	0.1362:0.0753:0.0:0.7885	.	93	Q96DG6	CMBL_HUMAN	V	93	ENSP00000296658:I93V	ENSP00000296658:I93V	I	-	1	0	CMBL	10341580	0.986000	0.35501	0.059000	0.19551	0.070000	0.16714	3.504000	0.53347	0.354000	0.24105	-0.496000	0.04628	ATC	CMBL	-	pfam_Dienelactn_hydro	ENSG00000164237		0.498	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMBL	HGNC	protein_coding	OTTHUMT00000253689.1	50	0.00	0	T	NM_138809		10288580	10288580	-1	no_errors	ENST00000296658	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.976	C
ERCC3	2071	genome.wustl.edu	37	2	128050283	128050283	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr2:128050283G>A	ENST00000285398.2	-	3	468	c.374C>T	c.(373-375)gCa>gTa	p.A125V	ERCC3_ENST00000493187.2_Missense_Mutation_p.A61V	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	125					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCTGACAGCTGCATACAAGGA	0.488			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	0													118.0	105.0	109.0					2																	128050283		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.374C>T	2.37:g.128050283G>A	ENSP00000285398:p.Ala125Val		Q53QM0	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.A125V	ENST00000285398.2	37	c.374	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.621860	0.96660	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.72942	-0.7;-0.7	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	H	0.95574	3.69	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.92469	0.5984	10	0.87932	D	0	-17.9677	18.9558	0.92658	0.0:0.0:1.0:0.0	.	125	P19447	ERCC3_HUMAN	V	125;61	ENSP00000285398:A125V;ENSP00000444796:A61V	ENSP00000285398:A125V	A	-	2	0	ERCC3	127766753	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.869000	0.99810	2.475000	0.83589	0.650000	0.86243	GCA	ERCC3	-	tigrfam_XPGB_DNA_repair	ENSG00000163161		0.488	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	70	0.00	0	G	NM_000122		128050283	128050283	-1	no_errors	ENST00000285398	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	A
FASTKD2	22868	genome.wustl.edu	37	2	207632179	207632179	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr2:207632179G>T	ENST00000236980.6	+	2	1110	c.762G>T	c.(760-762)ttG>ttT	p.L254F	FASTKD2_ENST00000402774.3_Missense_Mutation_p.L254F|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.L254F|MDH1B_ENST00000374412.3_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	254					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TGCAGACTTTGCTGAGGGTGA	0.378																																						dbGAP											0													62.0	57.0	59.0					2																	207632179		2008	4175	6183	-	-	-	SO:0001583	missense	0			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.762G>T	2.37:g.207632179G>T	ENSP00000236980:p.Leu254Phe		Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP	p.L254F	ENST00000236980.6	37	c.762	CCDS2371.1	2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287841	0.59976	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.24908	1.83;1.83;1.83	5.31	1.06	0.20224	.	0.095058	0.44902	D	0.000411	T	0.40645	0.1125	M	0.64404	1.975	0.40613	D	0.981697	D;P	0.76494	0.999;0.693	D;B	0.69142	0.962;0.161	T	0.11591	-1.0581	10	0.49607	T	0.09	-25.0436	8.3739	0.32432	0.1722:0.1181:0.7098:0.0	.	254;254	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	F	254	ENSP00000236980:L254F;ENSP00000385990:L254F;ENSP00000384929:L254F	ENSP00000236980:L254F	L	+	3	2	FASTKD2	207340424	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	2.474000	0.45154	-0.063000	0.13065	0.561000	0.74099	TTG	FASTKD2	-	NULL	ENSG00000118246		0.378	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD2	HGNC	protein_coding	OTTHUMT00000256428.2	36	0.00	0	G	NM_014929		207632179	207632179	+1	no_errors	ENST00000236980	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	1.000	T
PRR36	80164	genome.wustl.edu	37	19	7935863	7935863	+	Missense_Mutation	SNP	G	G	T	rs5027409		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr19:7935863G>T	ENST00000539422.1	-	5	2429	c.2267C>A	c.(2266-2268)cCt>cAt	p.P756H	CTD-3193O13.9_ENST00000593356.1_Intron|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					GTTCTCCAGAGGGGGTGTGGT	0.622																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000539422.1:c.2267C>A	19.37:g.7935863G>T	ENSP00000438970:p.Pro756His			Missense_Mutation	SNP	NULL	p.P756H	ENST00000539422.1	37	c.2267		19	.	.	.	.	.	.	.	.	.	.	G	5.221	0.226334	0.09916	.	.	ENSG00000183248	ENST00000539422	.	.	.	2.35	-0.76	0.11041	.	.	.	.	.	T	0.23532	0.0569	N	0.11560	0.145	0.58432	P	6.999999999979245E-6	.	.	.	.	.	.	T	0.32268	-0.9913	5	0.56958	D	0.05	.	5.5853	0.17272	0.4446:0.0:0.5554:0.0	rs5027409	.	.	.	H	756	.	ENSP00000438970:P756H	P	-	2	0	AC010336.1	7841863	0.804000	0.28969	0.003000	0.11579	0.318000	0.28184	0.000000	0.12993	0.137000	0.18759	0.074000	0.15403	CCT	AC010336.1	-	NULL	ENSG00000183248		0.622	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_ensembl_gene	protein_coding		22	0.00	0	G			7935863	7935863	-1	no_errors	ENST00000539422	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.136	T
LINC01597	400841	genome.wustl.edu	37	20	29516414	29516414	+	lincRNA	SNP	C	C	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr20:29516414C>T	ENST00000380888.3	-	0	495																											tgctcctgggcgaggcgcgag	0.632																																						dbGAP											0																																										-	-	-			0																															20.37:g.29516414C>T				RNA	SNP	-	NULL	ENST00000380888.3	37	NULL		20																																																																																			RP4-610C12.4	-	-	ENSG00000205611		0.632	RP4-610C12.4-001	KNOWN	basic	lincRNA	FLJ45832	Clone_based_vega_gene	lincRNA	OTTHUMT00000256907.1	63	0.00	0	C			29516414	29516414	-1	no_errors	ENST00000380888	ensembl	human	known	69_37n	rna	42	16.00	8	SNP	0.013	T
FUNDC2	65991	genome.wustl.edu	37	X	154261714	154261714	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chrX:154261714C>T	ENST00000369498.3	+	2	424	c.170C>T	c.(169-171)gCg>gTg	p.A57V	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	57						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGGACCTTGCGGAATTTGCT	0.403																																						dbGAP											0													89.0	83.0	85.0					X																	154261714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.170C>T	X.37:g.154261714C>T	ENSP00000358510:p.Ala57Val		B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	pfam_FUN14	p.A57V	ENST00000369498.3	37	c.170	CCDS14763.1	X	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409508	0.62399	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.28	5.28	0.74379	.	0.069612	0.64402	D	0.000010	T	0.58991	0.2161	L	0.54323	1.7	0.45567	D	0.99851	B	0.24258	0.1	B	0.20577	0.03	T	0.59289	-0.7482	9	0.56958	D	0.05	.	15.4824	0.75537	0.0:1.0:0.0:0.0	.	57	Q9BWH2	FUND2_HUMAN	V	57	.	ENSP00000358510:A57V	A	+	2	0	FUNDC2	153914908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.399000	0.66314	2.337000	0.79520	0.594000	0.82650	GCG	FUNDC2	-	NULL	ENSG00000165775		0.403	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC2	HGNC	protein_coding	OTTHUMT00000037641.3	108	0.00	0	C	NM_023934		154261714	154261714	+1	no_errors	ENST00000369498	ensembl	human	known	69_37n	missense	73	20.43	19	SNP	1.000	T
GAPVD1	26130	genome.wustl.edu	37	9	128064260	128064260	+	Splice_Site	SNP	A	A	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr9:128064260A>T	ENST00000495955.1	+	5	475		c.e5-1		GAPVD1_ENST00000265956.4_Splice_Site|GAPVD1_ENST00000297933.6_Splice_Site|GAPVD1_ENST00000394104.2_Splice_Site|GAPVD1_ENST00000394105.2_Splice_Site|GAPVD1_ENST00000394084.1_Splice_Site|GAPVD1_ENST00000312123.9_Splice_Site|GAPVD1_ENST00000394083.2_Splice_Site|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000470056.1_Splice_Site			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTTTTTTTTAGTGCTGAAGC	0.328																																						dbGAP											0													33.0	35.0	35.0					9																	128064260		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.186-1A>T	9.37:g.128064260A>T			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	SNP	-	e2-2	ENST00000495955.1	37	c.186-2		9	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401126	0.62288	.	.	ENSG00000165219	ENST00000461379;ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2151	0.73258	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPVD1	127104081	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	8.695000	0.91298	2.184000	0.69523	0.533000	0.62120	.	GAPVD1	-	-	ENSG00000165219		0.328	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	37	0	0	A		Intron	128064260	128064260	+1	no_errors	ENST00000394105	ensembl	human	known	69_37n	splice_site	30	18.92	7	SNP	1.000	T
GDPD4	220032	genome.wustl.edu	37	11	76996161	76996161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr11:76996161delC	ENST00000376217.2	-	2	272	c.22delG	c.(22-24)gaafs	p.E8fs	GDPD4_ENST00000315938.4_Frame_Shift_Del_p.E8fs|GDPD4_ENST00000527489.1_5'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	8					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTGGATGTTTCTATCCACAGG	0.368																																						dbGAP											0													73.0	65.0	68.0					11																	76996161		2200	4292	6492	-	-	-	SO:0001589	frameshift_variant	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.22delG	11.37:g.76996161delC	ENSP00000365390:p.Glu8fs		Q7Z5B0	Frame_Shift_Del	DEL	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.E8fs	ENST00000376217.2	37	c.22		11																																																																																			GDPD4	-	NULL	ENSG00000178795		0.368	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	23	0.00	0	C	NM_182833		76996161	76996161	-1	no_errors	ENST00000376217	ensembl	human	known	69_37n	frame_shift_del	11	25.00	4	DEL	1.000	-
MXRA8	54587	genome.wustl.edu	37	1	1290681	1290681	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr1:1290681delG	ENST00000309212.6	-	4	451	c.421delC	c.(421-423)catfs	p.H142fs	MXRA8_ENST00000445648.2_Frame_Shift_Del_p.H142fs|MXRA8_ENST00000342753.4_Frame_Shift_Del_p.H41fs|MXRA8_ENST00000477278.2_Frame_Shift_Del_p.H133fs	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	142	Ig-like V-type 1.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGTAGTGATGGTGCAGGTTG	0.731																																						dbGAP											0													37.0	30.0	33.0					1																	1290681		2197	4293	6490	-	-	-	SO:0001589	frameshift_variant	0			BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.421delC	1.37:g.1290681delG	ENSP00000307887:p.His142fs		B3KTR6|B4DE34|Q5TA39|Q96KC3	Frame_Shift_Del	DEL	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.H141fs	ENST00000309212.6	37	c.421	CCDS24.1	1																																																																																			MXRA8	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000162576		0.731	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA8	HGNC	protein_coding	OTTHUMT00000008282.2	18	0.00	0	G	NM_032348		1290681	1290681	-1	no_errors	ENST00000445648	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	1.000	-
LEPRE1	64175	genome.wustl.edu	37	1	43213975	43213975	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr1:43213975C>A	ENST00000296388.5	-	12	1785	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	LEPRE1_ENST00000397054.3_Missense_Mutation_p.E578D|LEPRE1_ENST00000462474.1_5'Flank|LEPRE1_ENST00000236040.4_Missense_Mutation_p.E578D			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	578	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATCCTTCCTCTCTGCCTGGA	0.567																																						dbGAP											0													125.0	104.0	111.0					1																	43213975		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1734G>T	1.37:g.43213975C>A	ENSP00000296388:p.Glu578Asp		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E578D	ENST00000296388.5	37	c.1734	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271512	0.40194	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.41758	0.99;0.99;0.99	5.78	2.67	0.31697	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.419871	0.28760	N	0.014237	T	0.12092	0.0294	N	0.01109	-1.01	0.23361	N	0.997836	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.12156	0.002;0.004;0.007	T	0.30475	-0.9977	10	0.09590	T	0.72	-34.5888	6.4541	0.21920	0.0:0.6084:0.1454:0.2463	.	578;443;578	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	D	578;578;578;443	ENSP00000380245:E578D;ENSP00000236040:E578D;ENSP00000296388:E578D	ENSP00000236040:E578D	E	-	3	2	LEPRE1	42986562	0.259000	0.24043	1.000000	0.80357	0.123000	0.20343	-0.216000	0.09266	0.792000	0.33850	0.557000	0.71058	GAG	LEPRE1	-	smart_Pro_4_hyd_alph	ENSG00000117385		0.567	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	53	0.00	0	C	NM_022356		43213975	43213975	-1	no_errors	ENST00000236040	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.962	A
ITGA10	8515	genome.wustl.edu	37	1	145533448	145533448	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr1:145533448G>T	ENST00000369304.3	+	12	1506	c.1331G>T	c.(1330-1332)cGc>cTc	p.R444L	ITGA10_ENST00000539363.1_Missense_Mutation_p.R301L|ITGA10_ENST00000538811.1_Missense_Mutation_p.R313L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	444					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGGGTGGACGCCGCCTGTTT	0.527																																						dbGAP											0													112.0	124.0	120.0					1																	145533448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1331G>T	1.37:g.145533448G>T	ENSP00000358310:p.Arg444Leu		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R444L	ENST00000369304.3	37	c.1331	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915680	0.33815	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.71341	-0.56;-0.56;-0.56	5.04	2.17	0.27698	.	0.470541	0.21813	N	0.068726	T	0.38161	0.1030	L	0.31578	0.945	0.48040	D	0.999574	B;B;P;B	0.42973	0.267;0.175;0.796;0.038	B;B;B;B	0.40134	0.246;0.168;0.32;0.021	T	0.12760	-1.0535	10	0.27785	T	0.31	.	8.4618	0.32931	0.2574:0.0:0.7426:0.0	.	410;313;301;444	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	444;410;301;313	ENSP00000358310:R444L;ENSP00000439894:R301L;ENSP00000440011:R313L	ENSP00000358310:R444L	R	+	2	0	ITGA10	144244805	0.888000	0.30383	0.996000	0.52242	0.996000	0.88848	0.555000	0.23422	0.321000	0.23259	-0.140000	0.14226	CGC	ITGA10	-	smart_Int_alpha_beta-p	ENSG00000143127		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	89	0.00	0	G	NM_003637		145533448	145533448	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	missense	83	18.10	19	SNP	0.995	T
OR12D2	26529	genome.wustl.edu	37	6	29365192	29365192	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr6:29365192C>T	ENST00000383555.2	+	1	777	c.716C>T	c.(715-717)aCt>aTt	p.T239I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GCACTGTCCACTTGTGCCTCC	0.443																																						dbGAP											0													226.0	219.0	222.0					6																	29365192		1511	2708	4219	-	-	-	SO:0001583	missense	0				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.716C>T	6.37:g.29365192C>T	ENSP00000373047:p.Thr239Ile		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T239I	ENST00000383555.2	37	c.716	CCDS4659.1	6	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684095	0.47991	.	.	ENSG00000168787	ENST00000383555	T	0.42513	0.97	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.54481	0.1861	M	0.93898	3.47	0.48632	D	0.999687	P	0.45011	0.848	P	0.47827	0.558	T	0.70550	-0.4841	10	0.72032	D	0.01	.	15.7562	0.78030	0.0:1.0:0.0:0.0	.	239	P58182	O12D2_HUMAN	I	239	ENSP00000373047:T239I	ENSP00000373047:T239I	T	+	2	0	OR12D2	29473171	1.000000	0.71417	0.193000	0.23327	0.248000	0.25809	6.726000	0.74758	2.019000	0.59389	0.205000	0.17691	ACT	OR12D2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000168787		0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	HGNC	protein_coding	OTTHUMT00000076054.2	137	0.00	0	C			29365192	29365192	+1	no_errors	ENST00000383555	ensembl	human	known	69_37n	missense	70	13.58	11	SNP	0.985	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	69	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	61	20.78	16	SNP	1.000	A
PIP5KL1	138429	genome.wustl.edu	37	9	130690398	130690398	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr9:130690398C>T	ENST00000388747.4	-	4	424	c.380G>A	c.(379-381)gGc>gAc	p.G127D	PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	127	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CAGGTAGGGGCCGCCGGGGCC	0.711																																						dbGAP											0													11.0	13.0	12.0					9																	130690398		1539	3535	5074	-	-	-	SO:0001583	missense	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.380G>A	9.37:g.130690398C>T	ENSP00000373399:p.Gly127Asp		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.G127D	ENST00000388747.4	37	c.380	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	C	3.041	-0.197480	0.06259	.	.	ENSG00000167103	ENST00000388747	T	0.40756	1.02	5.24	2.09	0.27110	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.493681	0.22334	N	0.061422	T	0.22742	0.0549	L	0.27053	0.805	0.36212	D	0.85143	B	0.09022	0.002	B	0.13407	0.009	T	0.11012	-1.0605	10	0.11485	T	0.65	-10.6789	5.5317	0.16989	0.0:0.5579:0.2577:0.1844	.	127	Q5T9C9	PI5L1_HUMAN	D	127	ENSP00000373399:G127D	ENSP00000373399:G127D	G	-	2	0	PIP5KL1	129730219	0.690000	0.27699	0.670000	0.29842	0.692000	0.40212	0.844000	0.27654	1.210000	0.43336	0.561000	0.74099	GGC	PIP5KL1	-	smart_PInositol-4P-5-kinase_core_sub	ENSG00000167103		0.711	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	31	0.00	0	C	NM_173492		130690398	130690398	-1	no_errors	ENST00000388747	ensembl	human	novel	69_37n	missense	14	17.65	3	SNP	0.517	T
PLK2	10769	genome.wustl.edu	37	5	57752411	57752412	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr5:57752411_57752412delCT	ENST00000274289.3	-	9	1461_1462	c.1161_1162delAG	c.(1159-1164)agagtgfs	p.RV387fs	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	387					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCTTTAGACACTCTATCTGTAT	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1161_1162delAG	5.37:g.57752413_57752414delCT	ENSP00000274289:p.Arg387fs		O60679|Q96CV7|Q9UE61	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.R387fs	ENST00000274289.3	37	c.1162_1161	CCDS3974.1	5																																																																																			PLK2	-	NULL	ENSG00000145632		0.366	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	92	0.00	0	CT	NM_006622		57752411	57752412	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	frame_shift_del	71	12.35	10	DEL	0.999:0.999	-
PPP1R9B	84687	genome.wustl.edu	37	17	48217647	48217647	+	Intron	SNP	C	C	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr17:48217647C>A	ENST00000316878.6	-	7	1727				AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_Intron	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GGTAATGCATCATCCTCCCTG	0.607											OREG0024556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1725-54G>T	17.37:g.48217647C>A		952	Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-	ENSG00000108819		0.607	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		35	0.00	0	C	NM_032595		48217647	48217647	-1	no_errors	ENST00000513579	ensembl	human	known	69_37n	rna	20	16.67	4	SNP	0.039	A
SLC22A9	114571	genome.wustl.edu	37	11	63141399	63141399	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr11:63141399T>C	ENST00000279178.3	+	4	944	c.695T>C	c.(694-696)aTg>aCg	p.M232T	SLC22A9_ENST00000310969.4_Silent_p.H180H	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	232					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCCAGGCCATGGGAATTACA	0.478																																						dbGAP											0													90.0	88.0	89.0					11																	63141399		2201	4298	6499	-	-	-	SO:0001583	missense	0			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.695T>C	11.37:g.63141399T>C	ENSP00000279178:p.Met232Thr		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M232T	ENST00000279178.3	37	c.695	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	T	7.571	0.666741	0.14710	.	.	ENSG00000149742	ENST00000279178	T	0.58652	0.32	4.35	0.589	0.17452	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.456909	0.22393	U	0.060642	T	0.44787	0.1310	L	0.53249	1.67	0.20196	N	0.999921	B	0.23128	0.08	B	0.24006	0.05	T	0.28138	-1.0053	10	0.17369	T	0.5	.	6.8171	0.23837	0.0:0.2671:0.0:0.7329	.	232	Q8IVM8	S22A9_HUMAN	T	232	ENSP00000279178:M232T	ENSP00000279178:M232T	M	+	2	0	SLC22A9	62897975	0.002000	0.14202	0.014000	0.15608	0.014000	0.08584	-0.034000	0.12225	0.011000	0.14865	0.432000	0.28606	ATG	SLC22A9	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000149742		0.478	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	80	0.00	0	T	NM_080866		63141399	63141399	+1	no_errors	ENST00000279178	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.174	C
SLITRK1	114798	genome.wustl.edu	37	13	84455450	84455450	+	Silent	SNP	G	G	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr13:84455450G>A	ENST00000377084.2	-	1	1078	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	65					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGCCATGCAGAAATAAATGG	0.433																																						dbGAP											0													72.0	74.0	73.0					13																	84455450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.193C>T	13.37:g.84455450G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L65	ENST00000377084.2	37	c.193	CCDS9464.1	13																																																																																			SLITRK1	-	NULL	ENSG00000178235		0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	23	0.00	0	G	NM_052910		84455450	84455450	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	1.000	A
TDRD12	91646	genome.wustl.edu	37	19	33293878	33293878	+	Silent	SNP	G	G	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr19:33293878G>A	ENST00000444215.2	+	21	2702	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L				Q587J7	TDR12_HUMAN	tudor domain containing 12	794					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			NS(1)|breast(1)|endometrium(3)|lung(2)|prostate(1)|skin(1)	9	Esophageal squamous(110;0.137)					TCTTGCTGCTGACGGAGAAAG	0.552																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK023134	CCDS46038.1	19q13.11	2013-01-23				ENSG00000173809		"""Tudor domain containing"""	25044	protein-coding gene	gene with protein product						11441184	Standard	NM_001110822		Approved	ECAT8, FLJ13072	uc002ntq.2	Q587J7		ENST00000444215.2:c.2382G>A	19.37:g.33293878G>A				Silent	SNP	pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.L794	ENST00000444215.2	37	c.2382		19																																																																																			TDRD12	-	NULL	ENSG00000173809		0.552	TDRD12-001	KNOWN	basic|appris_principal	protein_coding	TDRD12	HGNC	protein_coding	OTTHUMT00000435933.1	64	0.00	0	G	NM_001015890		33293878	33293878	+1	no_errors	ENST00000444215	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	1.000	A
REV3L	5980	genome.wustl.edu	37	6	111806014	111806014	+	5'Flank	SNP	T	T	C			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr6:111806014T>C	ENST00000358835.3	-	0	0				TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440001.2_RNA|REV3L_ENST00000435970.1_5'Flank|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000525151.1_RNA|TRAF3IP2-AS1_ENST00000532226.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|REV3L_ENST00000368802.3_5'Flank|REV3L_ENST00000368805.1_5'Flank|TRAF3IP2-AS1_ENST00000420651.2_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGGAACCGTTGTGGATTTT	0.383								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318		6.37:g.111806014T>C	Exception_encountered		O43214|Q5TC33	RNA	SNP	-	NULL	ENST00000358835.3	37	NULL	CCDS5091.2	6																																																																																			TRAF3IP2-AS1	-	-	ENSG00000231889		0.383	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3IP2-AS1	HGNC	protein_coding	OTTHUMT00000043695.1	64	0.00	0	T	NM_002912		111806014	111806014	+1	no_errors	ENST00000440001	ensembl	human	known	69_37n	rna	26	31.58	12	SNP	0.003	C
TRIM73	375593	genome.wustl.edu	37	7	75028599	75028599	+	Missense_Mutation	SNP	G	G	A	rs199603365		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr7:75028599G>A	ENST00000437796.1	+	1	401	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM73_ENST00000447409.2_Missense_Mutation_p.V128I|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000323819.3_Missense_Mutation_p.V128I|TRIM73_ENST00000430211.1_Missense_Mutation_p.V128I			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTCTCCACCGTCTGCAGCCG	0.672																																						dbGAP											0													1.0	2.0	2.0					7																	75028599		319	1397	1716	-	-	-	SO:0001583	missense	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.382G>A	7.37:g.75028599G>A	ENSP00000417040:p.Val128Ile		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000437796.1	37	c.382	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960623	0.53400	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.31	2.31	0.28768	.	0.119478	0.36519	N	0.002554	T	0.32912	0.0845	N	0.24115	0.695	0.25573	N	0.986874	P;P	0.50156	0.932;0.932	B;B	0.36845	0.234;0.234	T	0.32295	-0.9912	10	0.46703	T	0.11	.	12.185	0.54234	0.0:0.0:1.0:0.0	.	128;128	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	I	128	ENSP00000318615:V128I;ENSP00000410121:V128I;ENSP00000407135:V128I;ENSP00000417040:V128I	ENSP00000318615:V128I	V	+	1	0	TRIM73	74866535	0.378000	0.25114	1.000000	0.80357	0.868000	0.49771	2.680000	0.46918	1.612000	0.50221	0.400000	0.26472	GTC	TRIM73	-	NULL	ENSG00000178809		0.672	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	13	0.00	0	G			75028599	75028599	+1	no_errors	ENST00000323819	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179583473	179583473	+	Missense_Mutation	SNP	C	C	T	rs397517507		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr2:179583473C>T	ENST00000591111.1	-	82	23727	c.23503G>A	c.(23503-23505)Gtt>Att	p.V7835I	TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V8152I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13374	Ig-like 60.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTTGTAACGAGGCAAGAA	0.423																																						dbGAP											0													76.0	77.0	77.0					2																	179583473		1988	4166	6154	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23503G>A	2.37:g.179583473C>T	ENSP00000465570:p.Val7835Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V6908I	ENST00000591111.1	37	c.20722		2	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233408	0.22626	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66616	0.2807	L	0.49350	1.555	0.39248	D	0.963987	B	0.16603	0.018	B	0.18263	0.021	T	0.65286	-0.6205	9	0.87932	D	0	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	7835	Q8WZ42	TITIN_HUMAN	I	6908	ENSP00000343764:V6908I	ENSP00000343764:V6908I	V	-	1	0	TTN	179291718	0.429000	0.25530	0.598000	0.28837	0.995000	0.86356	1.079000	0.30766	2.861000	0.98227	0.650000	0.86243	GTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	40	0.00	0	C	NM_133378		179583473	179583473	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.146	T
VDAC3	7419	genome.wustl.edu	37	8	42259332	42259332	+	Missense_Mutation	SNP	C	C	T	rs551923370		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr8:42259332C>T	ENST00000022615.4	+	7	418	c.350C>T	c.(349-351)tCc>tTc	p.S117F	VDAC3_ENST00000522572.1_Missense_Mutation_p.S118F|VDAC3_ENST00000521158.1_Missense_Mutation_p.S118F|VDAC3_ENST00000392935.3_Missense_Mutation_p.S118F			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	117					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TTGAAGGCCTCCTATAAACGG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		19370	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													125.0	126.0	126.0					8																	42259332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.350C>T	8.37:g.42259332C>T	ENSP00000022615:p.Ser117Phe		Q9UIS0	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.S118F	ENST00000022615.4	37	c.353	CCDS6131.1	8	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702575	0.88924	.	.	ENSG00000078668	ENST00000518563;ENST00000392935;ENST00000520115;ENST00000522069;ENST00000522572;ENST00000521158;ENST00000022615	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.64	5.64	0.86602	.	0.284111	0.40554	N	0.001067	T	0.56262	0.1973	L	0.57536	1.79	0.58432	D	0.999996	D	0.54397	0.966	P	0.55161	0.77	T	0.57429	-0.7813	10	0.87932	D	0	-1.5281	17.6115	0.88055	0.0:1.0:0.0:0.0	.	117	Q9Y277	VDAC3_HUMAN	F	85;118;117;117;118;118;117	ENSP00000428977:S85F;ENSP00000442811:S118F;ENSP00000428519:S117F;ENSP00000429006:S117F;ENSP00000428029:S118F;ENSP00000428845:S118F;ENSP00000022615:S117F	ENSP00000022615:S117F	S	+	2	0	VDAC3	42378489	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.924000	0.63418	2.832000	0.97577	0.650000	0.86243	TCC	VDAC3	-	pfam_Porin_Euk	ENSG00000078668		0.388	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	VDAC3	HGNC	protein_coding	OTTHUMT00000377574.1	73	0.00	0	C			42259332	42259332	+1	no_errors	ENST00000392935	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	T
WDR44	54521	genome.wustl.edu	37	X	117566792	117566792	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chrX:117566792C>T	ENST00000254029.3	+	13	2181	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	WDR44_ENST00000371825.3_Missense_Mutation_p.R596W|WDR44_ENST00000371822.5_Missense_Mutation_p.R571W	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	596						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CGCACCCTTTCGGCAACGGCC	0.343																																						dbGAP											0													167.0	149.0	155.0					X																	117566792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1786C>T	X.37:g.117566792C>T	ENSP00000254029:p.Arg596Trp		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R596W	ENST00000254029.3	37	c.1786	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174968|4.174968	0.78564|0.78564	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.75050|.	-0.9;-0.3;-0.17|.	5.44|5.44	4.56|4.56	0.56223|0.56223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61438|0.61438	0.2347|0.2347	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.79784|.	0.972;0.965;0.993;0.96|.	T|T	0.57871|0.57871	-0.7736|-0.7736	10|5	0.62326|.	D|.	0.03|.	-22.6905|-22.6905	14.6959|14.6959	0.69121|0.69121	0.1462:0.8538:0.0:0.0|0.1462:0.8538:0.0:0.0	.|.	571;596;596;596|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	W|L	571;596;596|495	ENSP00000360887:R571W;ENSP00000254029:R596W;ENSP00000360890:R596W|.	ENSP00000254029:R596W|.	R|S	+|+	1|2	2|0	WDR44|WDR44	117450820|117450820	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.773000|1.773000	0.38563|0.38563	1.046000|1.046000	0.40249|0.40249	0.591000|0.591000	0.81541|0.81541	CGG|TCG	WDR44	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131725		0.343	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	50	0.00	0	C	NM_019045		117566792	117566792	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	T
WWC1	23286	genome.wustl.edu	37	5	167891929	167891929	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr5:167891929G>A	ENST00000265293.4	+	21	3614	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	WWC1_ENST00000521089.1_Missense_Mutation_p.E1044K|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1038	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCGTGAGGACGAGCGTTTCCG	0.632																																						dbGAP											0													70.0	66.0	67.0					5																	167891929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3112G>A	5.37:g.167891929G>A	ENSP00000265293:p.Glu1038Lys		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E1038K	ENST00000265293.4	37	c.3112	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.949270|4.949270	0.92660|0.92660	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.03|5.03	4.16|4.16	0.48862|0.48862	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76154|0.76154	0.3948|0.3948	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.992;0.996|.	T|T	0.78079|0.78079	-0.2344|-0.2344	10|5	0.87932|.	D|.	0|.	.|.	13.6121|13.6121	0.62086|0.62086	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	.|.	1044;1038|.	Q8IX03-2;Q8IX03|.	.;KIBRA_HUMAN|.	K|Q	1038;1044;370|1005;814	ENSP00000265293:E1038K;ENSP00000427772:E1044K;ENSP00000428084:E370K|.	ENSP00000265293:E1038K|.	E|R	+|+	1|2	0|0	WWC1|WWC1	167824507|167824507	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.975000|0.975000	0.68041|0.68041	6.587000|6.587000	0.74071|0.74071	1.129000|1.129000	0.42072|0.42072	0.555000|0.555000	0.69702|0.69702	GAG|CGA	WWC1	-	NULL	ENSG00000113645		0.632	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	96	0.00	0	G	NM_015238		167891929	167891929	+1	no_errors	ENST00000265293	ensembl	human	known	69_37n	missense	63	22.22	18	SNP	1.000	A
YIPF1	54432	genome.wustl.edu	37	1	54331884	54331884	+	Frame_Shift_Del	DEL	C	C	-	rs375495118		TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr1:54331884delC	ENST00000072644.1	-	9	1156	c.820delG	c.(820-822)gtgfs	p.V274fs	YIPF1_ENST00000371399.1_Frame_Shift_Del_p.V91fs|YIPF1_ENST00000539954.1_Frame_Shift_Del_p.V299fs|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	274						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						AAGCAGCCCACAGAAAGCAGC	0.418																																						dbGAP											0													101.0	89.0	93.0					1																	54331884		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.820delG	1.37:g.54331884delC	ENSP00000072644:p.Val274fs		B2RCM7|D3DQ40|Q9NWJ1	Frame_Shift_Del	DEL	pfam_Yip1,superfamily_Ribonuclease/ribotoxin	p.V299fs	ENST00000072644.1	37	c.895	CCDS584.1	1																																																																																			YIPF1	-	NULL	ENSG00000058799		0.418	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF1	HGNC	protein_coding	OTTHUMT00000022103.5	49	0.00	0	C	NM_018982		54331884	54331884	-1	no_errors	ENST00000539954	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
ZC3H3	23144	genome.wustl.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-AR-A5QP-01A-11D-A28B-09	TCGA-AR-A5QP-10A-01D-A28E-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a0e90c6c-34d0-4c1c-8c71-a914961a6847	60b54869-5add-4799-89a0-e5f090801826	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del		Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.S881in_frame_del	ENST00000262577.5	37	c.2639_2637	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	51	0.00	0	GAG	NM_015117		144522387	144522389	-1	no_errors	ENST00000262577	ensembl	human	known	69_37n	in_frame_del	30	16.67	6	DEL	0.000:0.000:0.001	-
