#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABHD2	11057	genome.wustl.edu	37	15	89731451	89731451	+	Missense_Mutation	SNP	G	G	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr15:89731451G>C	ENST00000352732.5	+	8	1363	c.843G>C	c.(841-843)aaG>aaC	p.K281N	ABHD2_ENST00000355100.3_Missense_Mutation_p.K281N|ABHD2_ENST00000565973.1_Missense_Mutation_p.K281N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	281					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACCATGTTAAGAAACCCCAGA	0.498																																					Colon(11;252 417 24570 33239 41878)	dbGAP											0													114.0	100.0	105.0					15																	89731451		2200	4299	6499	-	-	-	SO:0001583	missense	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.843G>C	15.37:g.89731451G>C	ENSP00000268129:p.Lys281Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.K281N	ENST00000352732.5	37	c.843	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769656	0.49680	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.62941	-0.01;-0.01	5.59	4.68	0.58851	Alpha/beta hydrolase fold-1 (1);	0.159332	0.56097	D	0.000029	T	0.51041	0.1651	L	0.35854	1.095	0.51482	D	0.999922	B	0.27286	0.174	B	0.31751	0.135	T	0.47142	-0.9140	10	0.33940	T	0.23	0.0	8.6739	0.34167	0.2251:0.0:0.7749:0.0	.	281	P08910	ABHD2_HUMAN	N	281	ENSP00000268129:K281N;ENSP00000347217:K281N	ENSP00000268129:K281N	K	+	3	2	ABHD2	87532455	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.969000	0.40510	1.357000	0.45904	0.650000	0.86243	AAG	ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000140526		0.498	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	38	0.00	0	G			89731451	89731451	+1	no_errors	ENST00000352732	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	C
CPNE8	144402	genome.wustl.edu	37	12	39170041	39170041	+	Splice_Site	SNP	C	C	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr12:39170041C>G	ENST00000331366.5	-	7	566	c.470G>C	c.(469-471)aGg>aCg	p.R157T	CPNE8_ENST00000360449.3_Splice_Site_p.R145T	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	157	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTACTTACCCTGCAACAGTT	0.259																																						dbGAP											0													72.0	77.0	75.0					12																	39170041		2196	4269	6465	-	-	-	SO:0001630	splice_region_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.471+1G>C	12.37:g.39170041C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.R157T	ENST00000331366.5	37	c.470	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813884	0.70912	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.39056	1.76;1.1	5.17	5.17	0.71159	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.52759	1.655	0.80722	D	1	B	0.24823	0.112	B	0.28991	0.097	T	0.34079	-0.9843	10	0.51188	T	0.08	-17.1086	18.3196	0.90232	0.0:1.0:0.0:0.0	.	157	Q86YQ8	CPNE8_HUMAN	T	157;145	ENSP00000329748:R157T;ENSP00000353633:R145T	ENSP00000329748:R157T	R	-	2	0	CPNE8	37456308	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.882000	0.75589	2.793000	0.96121	0.591000	0.81541	AGG	CPNE8	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000139117		0.259	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	106	0.00	0	C	NM_153634	Missense_Mutation	39170041	39170041	-1	no_errors	ENST00000331366	ensembl	human	known	69_37n	missense	57	10.94	7	SNP	1.000	G
CRBN	51185	genome.wustl.edu	37	3	3192638	3192638	+	Missense_Mutation	SNP	A	A	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr3:3192638A>G	ENST00000231948.4	-	11	1262	c.1240T>C	c.(1240-1242)Ttt>Ctt	p.F414L	RP11-97C16.1_ENST00000607052.1_RNA|CRBN_ENST00000432408.2_Missense_Mutation_p.F413L	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	414	Thalidomide-binding.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	AAGCCCCAAAATTTTTGAGGT	0.428																																						dbGAP											0													138.0	110.0	119.0					3																	3192638		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.1240T>C	3.37:g.3192638A>G	ENSP00000231948:p.Phe414Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	p.F414L	ENST00000231948.4	37	c.1240	CCDS2562.1	3	.	.	.	.	.	.	.	.	.	.	A	33	5.205668	0.95033	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	M	0.93016	3.37	0.80722	D	1	D;D;P	0.89917	1.0;0.974;0.956	D;D;D	0.85130	0.997;0.969;0.931	D	0.89433	0.3718	9	0.87932	D	0	-24.9195	15.5169	0.75830	1.0:0.0:0.0:0.0	.	348;413;414	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	L	414;413;348	.	ENSP00000231948:F414L	F	-	1	0	CRBN	3167638	1.000000	0.71417	0.992000	0.48379	0.880000	0.50808	9.125000	0.94402	2.086000	0.62901	0.533000	0.62120	TTT	CRBN	-	NULL	ENSG00000113851		0.428	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRBN	HGNC	protein_coding	OTTHUMT00000206579.3	75	0.00	0	A	NM_016302		3192638	3192638	-1	no_errors	ENST00000231948	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	1.000	G
CTTNBP2	83992	genome.wustl.edu	37	7	117501284	117501284	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr7:117501284G>T	ENST00000160373.3	-	2	259	c.168C>A	c.(166-168)gaC>gaA	p.D56E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	56					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGATGACAAGGTCTCTGGCCT	0.488																																						dbGAP											0													60.0	48.0	52.0					7																	117501284		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.168C>A	7.37:g.117501284G>T	ENSP00000160373:p.Asp56Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D56E	ENST00000160373.3	37	c.168	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327520	0.81690	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.63	3.84	0.44239	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	L	0.54965	1.715	0.51233	D	0.999911	D	0.61697	0.99	D	0.66196	0.942	T	0.56117	-0.8032	10	0.87932	D	0	-1.2945	10.4725	0.44646	0.1937:0.0:0.8063:0.0	.	56	Q8WZ74	CTTB2_HUMAN	E	56;14;14;14	ENSP00000160373:D56E;ENSP00000396014:D14E;ENSP00000405831:D14E;ENSP00000393373:D14E	ENSP00000160373:D56E	D	-	3	2	CTTNBP2	117288520	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.006000	0.49529	0.854000	0.35336	0.591000	0.81541	GAC	CTTNBP2	-	pfam_Cortactin-binding_p2_N	ENSG00000077063		0.488	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	32	0.00	0	G	NM_033427		117501284	117501284	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	T
CYP4A11	1579	genome.wustl.edu	37	1	47402424	47402424	+	Missense_Mutation	SNP	T	T	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:47402424T>C	ENST00000310638.4	-	4	453	c.422A>G	c.(421-423)cAg>cGg	p.Q141R	CYP4A11_ENST00000462347.1_Missense_Mutation_p.Q141R|CYP4A11_ENST00000457840.2_Missense_Mutation_p.Q37R|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q141R|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q141R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	141					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CCGTCGATGCTGGAACCATGT	0.532																																						dbGAP											0													105.0	80.0	89.0					1																	47402424		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.422A>G	1.37:g.47402424T>C	ENSP00000311095:p.Gln141Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.Q141R	ENST00000310638.4	37	c.422	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	N	15.84	2.952988	0.53293	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.46	5.46	0.80206	.	0.070956	0.64402	D	0.000016	T	0.58119	0.2100	N	0.12853	0.265	0.36834	D	0.887052	B	0.31989	0.35	B	0.44163	0.443	T	0.61978	-0.6951	10	0.21540	T	0.41	.	15.5835	0.76465	0.0:0.0:0.0:1.0	.	141	Q02928	CP4AB_HUMAN	R	141;141;141;37	ENSP00000311095:Q141R;ENSP00000360971:Q141R;ENSP00000360972:Q141R;ENSP00000406272:Q37R	ENSP00000311095:Q141R	Q	-	2	0	CYP4A11	47175011	1.000000	0.71417	0.977000	0.42913	0.718000	0.41266	5.198000	0.65147	2.087000	0.62958	0.524000	0.50904	CAG	CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II	ENSG00000187048		0.532	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	57	0.00	0	T	NM_000778		47402424	47402424	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	C
DDX11	1663	genome.wustl.edu	37	12	31249874	31249874	+	Missense_Mutation	SNP	C	C	A			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr12:31249874C>A	ENST00000407793.2	+	17	1963	c.1712C>A	c.(1711-1713)gCa>gAa	p.A571E	DDX11_ENST00000545668.1_Missense_Mutation_p.A571E|DDX11_ENST00000350437.4_Missense_Mutation_p.A571E|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A545E|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A571E	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	571					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCTTCCTGGCAGCTCTCACT	0.607										Multiple Myeloma(12;0.14)																												dbGAP											0													37.0	40.0	39.0					12																	31249874		2203	4300	6503	-	-	-	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1712C>A	12.37:g.31249874C>A	ENSP00000384703:p.Ala571Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A571E	ENST00000407793.2	37	c.1712	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	1.612	-0.523697	0.04141	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	3.56	-1.26	0.09376	.	0.526690	0.22351	N	0.061203	T	0.26304	0.0642	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.001;0.003	B;B;B;B	0.13407	0.009;0.006;0.006;0.009	T	0.28299	-1.0048	10	0.02654	T	1	.	5.9624	0.19307	0.4566:0.4446:0.0:0.0988	.	545;571;571;571	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	E	571;571;296;545;571;571	ENSP00000443426:A571E;ENSP00000384703:A571E;ENSP00000228264:A545E;ENSP00000440402:A571E;ENSP00000309965:A571E	ENSP00000228264:A545E	A	+	2	0	DDX11	31141141	0.036000	0.19791	0.022000	0.16811	0.689000	0.40095	2.110000	0.41873	-0.164000	0.10927	0.505000	0.49811	GCA	DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	100	0.00	0	C	NM_030653		31249874	31249874	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	0.008	A
PDXDC2P	283970	genome.wustl.edu	37	16	70070460	70070460	+	RNA	SNP	T	T	A	rs528294688	byFrequency	TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr16:70070460T>A	ENST00000531894.1	-	0	435					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CCACATGACCTTGTTCTCCAA	0.363																																						dbGAP											0																																										-	-	-			0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70070460T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z5	RNA	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			RP11-106J23.2	-	-	ENSG00000255185		0.363	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000255185	Clone_based_vega_gene	processed_transcript	OTTHUMT00000395258.1	103	0.00	0	T			70070460	70070460	-1	no_errors	ENST00000527016	ensembl	human	known	69_37n	rna	68	11.69	9	SNP	1.000	A
FAAH	2166	genome.wustl.edu	37	1	46874204	46874204	+	Missense_Mutation	SNP	T	T	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:46874204T>C	ENST00000243167.8	+	8	1109	c.1025T>C	c.(1024-1026)aTg>aCg	p.M342T	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	342					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCCCCGGCCATGAGGCGGGCC	0.622																																						dbGAP											0													180.0	190.0	187.0					1																	46874204		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1025T>C	1.37:g.46874204T>C	ENSP00000243167:p.Met342Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.M342T	ENST00000243167.8	37	c.1025	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746793	0.89663	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.53640	0.61	5.4	5.4	0.78164	Amidase signature domain (2);	0.083631	0.85682	D	0.000000	T	0.65657	0.2712	L	0.58354	1.805	0.80722	D	1	D	0.55172	0.97	D	0.76575	0.988	T	0.68420	-0.5413	10	0.72032	D	0.01	1.7697	15.4415	0.75187	0.0:0.0:0.0:1.0	.	342	O00519	FAAH1_HUMAN	T	342;49	ENSP00000243167:M342T	ENSP00000243167:M342T	M	+	2	0	FAAH	46646791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.674000	0.83992	2.061000	0.61500	0.533000	0.62120	ATG	FAAH	-	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	ENSG00000117480		0.622	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	71	0.00	0	T	NM_001441		46874204	46874204	+1	no_errors	ENST00000243167	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	C
FAT1	2195	genome.wustl.edu	37	4	187541716	187541716	+	Missense_Mutation	SNP	G	G	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr4:187541716G>C	ENST00000441802.2	-	10	6233	c.6024C>G	c.(6022-6024)atC>atG	p.I2008M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2008	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAGGCTCATTGATTGGATTCC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													224.0	224.0	224.0					4																	187541716		1881	4109	5990	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6024C>G	4.37:g.187541716G>C	ENSP00000406229:p.Ile2008Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,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.I2008M	ENST00000441802.2	37	c.6024	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998161	0.35226	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01745	4.66	5.04	3.21	0.36854	Cadherin (4);Cadherin-like (1);	0.105548	0.64402	D	0.000005	T	0.03608	0.0103	L	0.61218	1.895	0.38689	D	0.952723	P	0.45986	0.87	P	0.50049	0.629	T	0.53872	-0.8377	10	0.30854	T	0.27	.	5.6572	0.17648	0.1666:0.0:0.5846:0.2488	.	2008	Q14517	FAT1_HUMAN	M	2008;2010	ENSP00000406229:I2008M	ENSP00000260147:I2010M	I	-	3	3	FAT1	187778710	0.907000	0.30839	0.993000	0.49108	0.963000	0.63663	-0.033000	0.12246	1.326000	0.45319	0.561000	0.74099	ATC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	35	0.00	0	G	NM_005245		187541716	187541716	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	27	17.65	6	SNP	0.998	C
FREM2	341640	genome.wustl.edu	37	13	39263585	39263585	+	Missense_Mutation	SNP	G	G	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr13:39263585G>C	ENST00000280481.7	+	1	2320	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	702					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTCCCTCCGGAGCTGGGCAG	0.552																																						dbGAP											0													68.0	64.0	65.0					13																	39263585		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2104G>C	13.37:g.39263585G>C	ENSP00000280481:p.Glu702Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E702Q	ENST00000280481.7	37	c.2104	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465408	0.26335	.	.	ENSG00000150893	ENST00000280481	T	0.42900	0.96	5.97	5.97	0.96955	.	0.048284	0.85682	D	0.000000	T	0.41419	0.1158	L	0.42245	1.32	0.58432	D	0.99999	B	0.23442	0.085	B	0.28139	0.086	T	0.14008	-1.0488	10	0.21540	T	0.41	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	702	Q5SZK8	FREM2_HUMAN	Q	702	ENSP00000280481:E702Q	ENSP00000280481:E702Q	E	+	1	0	FREM2	38161585	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	5.587000	0.67510	2.837000	0.97791	0.655000	0.94253	GAG	FREM2	-	NULL	ENSG00000150893		0.552	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	86	0.00	0	G	NM_207361		39263585	39263585	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	1.000	C
GLB1	2720	genome.wustl.edu	37	3	33099722	33099722	+	Missense_Mutation	SNP	C	C	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr3:33099722C>G	ENST00000399402.3	-	6	633	c.502G>C	c.(502-504)Gac>Cac	p.D168H	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.D198H|GLB1_ENST00000445488.2_Missense_Mutation_p.D246H	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	198					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CGCAGGTAGTCAAAATCACAG	0.453																																						dbGAP											0			GRCh37	CI992011	GLB1	I							31.0	34.0	33.0					3																	33099722		1855	4098	5953	-	-	-	SO:0001583	missense	0			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.502G>C	3.37:g.33099722C>G	ENSP00000382333:p.Asp168His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.D246H	ENST00000399402.3	37	c.736	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	C	8.109	0.778446	0.16120	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72	5.57	-3.77	0.04346	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.274677	0.44688	N	0.000429	D	0.95987	0.8693	M	0.79475	2.455	0.23962	N	0.996337	B;B;B	0.21225	0.053;0.053;0.053	B;B;B	0.21360	0.034;0.034;0.034	D	0.88868	0.3331	10	0.54805	T	0.06	-10.2456	13.9872	0.64343	0.0:0.4227:0.0:0.5773	.	198;198;246	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	H	168;198;246;39;67	ENSP00000382333:D168H;ENSP00000306920:D198H;ENSP00000393377:D246H;ENSP00000411813:D39H;ENSP00000411769:D67H	ENSP00000306920:D198H	D	-	1	0	GLB1	33074726	0.016000	0.18221	0.003000	0.11579	0.066000	0.16364	0.099000	0.15210	-0.603000	0.05767	-0.793000	0.03317	GAC	GLB1	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF	ENSG00000170266		0.453	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	24	0.00	0	C	NM_000404		33099722	33099722	-1	no_errors	ENST00000445488	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.012	G
HCFC1	3054	genome.wustl.edu	37	X	153220381	153220381	+	Missense_Mutation	SNP	C	C	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chrX:153220381C>G	ENST00000310441.7	-	17	4435	c.3469G>C	c.(3469-3471)Gag>Cag	p.E1157Q	HCFC1_ENST00000369984.4_Missense_Mutation_p.E1157Q|HCFC1_ENST00000354233.3_Missense_Mutation_p.E1088Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1157					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCTGCCTCCAGCGCCCCA	0.701																																						dbGAP											0													11.0	14.0	13.0					X																	153220381		2110	4170	6280	-	-	-	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3469G>C	X.37:g.153220381C>G	ENSP00000309555:p.Glu1157Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.E1157Q	ENST00000310441.7	37	c.3469	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	c	2.950	-0.216996	0.06101	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04758	3.61;3.63;3.56	4.91	2.03	0.26663	.	0.551628	0.17476	N	0.172903	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.23302	T	0.38	.	13.0418	0.58904	0.0:0.5412:0.4588:0.0	.	1157	P51610	HCFC1_HUMAN	Q	1157;1157;1088	ENSP00000309555:E1157Q;ENSP00000359001:E1157Q;ENSP00000346174:E1088Q	ENSP00000309555:E1157Q	E	-	1	0	HCFC1	152873575	0.002000	0.14202	0.001000	0.08648	0.102000	0.19082	1.584000	0.36589	-0.003000	0.14444	0.525000	0.51046	GAG	HCFC1	-	NULL	ENSG00000172534		0.701	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	64	0.00	0	C	NM_005334		153220381	153220381	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	0.000	G
HPCAL4	51440	genome.wustl.edu	37	1	40149691	40149691	+	Missense_Mutation	SNP	T	T	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:40149691T>C	ENST00000372844.3	-	3	687	c.296A>G	c.(295-297)cAg>cGg	p.Q99R		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	99	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTTGAGCTTCTGCTCGAAGCT	0.657																																						dbGAP											0													53.0	54.0	54.0					1																	40149691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.296A>G	1.37:g.40149691T>C	ENSP00000361935:p.Gln99Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.Q99R	ENST00000372844.3	37	c.296	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722786	0.89298	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.42131	0.98	3.51	3.51	0.40186	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.41824	1.3	0.80722	D	1	D	0.64830	0.994	D	0.83275	0.996	T	0.56619	-0.7949	10	0.59425	D	0.04	.	13.1033	0.59233	0.0:0.0:0.0:1.0	.	99	Q9UM19	HPCL4_HUMAN	R	99;91	ENSP00000361935:Q99R	ENSP00000361935:Q99R	Q	-	2	0	HPCAL4	39922278	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.756000	0.85195	1.834000	0.53371	0.379000	0.24179	CAG	HPCAL4	-	pfscan_EF_HAND_2,prints_Recoverin	ENSG00000116983		0.657	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	76	0.00	0	T	NM_016257		40149691	40149691	-1	no_errors	ENST00000372844	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	C
LAIR2	3904	genome.wustl.edu	37	19	55020268	55020268	+	Missense_Mutation	SNP	C	C	A			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr19:55020268C>A	ENST00000301202.2	+	4	510	c.388C>A	c.(388-390)Ccg>Acg	p.P130T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	130						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCCGGACTCCCCGGACACAGA	0.627																																						dbGAP											0													36.0	44.0	41.0					19																	55020268		2138	4275	6413	-	-	-	SO:0001583	missense	0			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.388C>A	19.37:g.55020268C>A	ENSP00000301202:p.Pro130Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PEZ4	Missense_Mutation	SNP	smart_Ig_sub	p.P130T	ENST00000301202.2	37	c.388	CCDS12897.1	19	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674053	0.00758	.	.	ENSG00000167618	ENST00000301202	T	0.00537	6.72	1.47	-0.994	0.10225	.	.	.	.	.	T	0.00328	0.0010	N	0.19112	0.55	0.09310	N	1	B	0.30326	0.276	B	0.23275	0.045	T	0.44590	-0.9318	9	0.87932	D	0	.	2.8011	0.05415	0.0:0.4889:0.3014:0.2097	.	130	Q6ISS4	LAIR2_HUMAN	T	130	ENSP00000301202:P130T	ENSP00000301202:P130T	P	+	1	0	LAIR2	59712080	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.721000	0.04963	-0.192000	0.10432	0.205000	0.17691	CCG	LAIR2	-	NULL	ENSG00000167618		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	HGNC	protein_coding	OTTHUMT00000140801.1	62	0.00	0	C			55020268	55020268	+1	no_errors	ENST00000301202	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	0.001	A
LARP4B	23185	genome.wustl.edu	37	10	931654	931654	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr10:931654G>T	ENST00000316157.3	-	1	48	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	3					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GTCCTGATCAGAAGTCATGGG	0.517																																						dbGAP											0													113.0	100.0	104.0					10																	931654		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.8C>A	10.37:g.931654G>T	ENSP00000326128:p.Ser3Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.S3Y	ENST00000316157.3	37	c.8	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635177	0.87760	.	.	ENSG00000107929	ENST00000316157;ENST00000406525;ENST00000412411	T	0.41758	0.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59247	-0.7490	10	0.87932	D	0	-10.1157	17.8929	0.88878	0.0:0.0:1.0:0.0	.	3	Q92615	LAR4B_HUMAN	Y	3	ENSP00000326128:S3Y	ENSP00000326128:S3Y	S	-	2	0	LARP4B	921654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.935000	0.87658	2.494000	0.84150	0.650000	0.86243	TCT	LARP4B	-	NULL	ENSG00000107929		0.517	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	51	0.00	0	G	NM_015155		931654	931654	-1	no_errors	ENST00000316157	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	1.000	T
MAGEB10	139422	genome.wustl.edu	37	X	27840129	27840129	+	Missense_Mutation	SNP	A	A	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chrX:27840129A>G	ENST00000356790.2	+	3	951	c.706A>G	c.(706-708)Att>Gtt	p.I236V		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	236	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ATATGACGGAATTGAGCACTT	0.468																																						dbGAP											0													55.0	50.0	51.0					X																	27840129		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.706A>G	X.37:g.27840129A>G	ENSP00000368304:p.Ile236Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.I236V	ENST00000356790.2	37	c.706	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	A	8.178	0.793209	0.16327	.	.	ENSG00000177689	ENST00000356790	T	0.04502	3.61	2.33	2.33	0.28932	.	0.442816	0.20886	U	0.083916	T	0.03915	0.0110	L	0.31065	0.9	0.09310	N	1	B	0.19331	0.035	B	0.20577	0.03	T	0.34625	-0.9821	10	0.72032	D	0.01	.	5.8259	0.18554	1.0:0.0:0.0:0.0	.	236	Q96LZ2	MAGBA_HUMAN	V	236	ENSP00000368304:I236V	ENSP00000368304:I236V	I	+	1	0	MAGEB10	27750050	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	1.531000	0.36018	1.159000	0.42565	0.345000	0.21793	ATT	MAGEB10	-	pfam_MAGE,pfscan_MAGE	ENSG00000177689		0.468	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	27	0.00	0	A	NM_182506		27840129	27840129	+1	no_errors	ENST00000356790	ensembl	human	known	69_37n	missense	15	16.67	3	SNP	0.002	G
MCM3AP	8888	genome.wustl.edu	37	21	47662235	47662235	+	Intron	DEL	T	T	-	rs373542871		TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr21:47662235delT	ENST00000397708.1	-	26	5681				MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					aagttaggacttttttttttt	0.318																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+480A>-	21.37:g.47662235delT		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	DEL	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			MCM3AP-AS1	-	-	ENSG00000215424		0.318	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	34	0.00	0	T	NM_003906		47662235	47662235	+1	no_errors	ENST00000421927	ensembl	human	known	69_37n	rna	21	20.69	6	DEL	0.165	-
MYO10	4651	genome.wustl.edu	37	5	16680162	16680162	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr5:16680162G>T	ENST00000513610.1	-	33	4890	c.4436C>A	c.(4435-4437)aCc>aAc	p.T1479N	MYO10_ENST00000427430.2_Missense_Mutation_p.T836N|MYO10_ENST00000505695.1_Missense_Mutation_p.T818N|MYO10_ENST00000274203.9_Missense_Mutation_p.T836N|MYO10_ENST00000515803.1_Missense_Mutation_p.T818N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1479	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCAGCTTGGTGTAGAGCCG	0.612																																						dbGAP											0													77.0	80.0	79.0					5																	16680162		2068	4196	6264	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4436C>A	5.37:g.16680162G>T	ENSP00000421280:p.Thr1479Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.T1479N	ENST00000513610.1	37	c.4436	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181891	0.78677	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.96119	0.8735	M	0.74258	2.255	0.38799	D	0.955153	P;D;D	0.65815	0.947;0.995;0.987	P;P;P	0.60682	0.714;0.874;0.878	D	0.96008	0.8999	9	0.48119	T	0.1	.	19.6952	0.96022	0.0:0.0:1.0:0.0	.	358;1119;1479	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1479;818;836;818;836	ENSP00000421280:T1479N;ENSP00000425051:T818N;ENSP00000274203:T836N;ENSP00000421170:T818N;ENSP00000391106:T836N	ENSP00000274203:T836N	T	-	2	0	MYO10	16733162	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.332000	0.59279	2.741000	0.93983	0.655000	0.94253	ACC	MYO10	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000145555		0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	80	0.00	0	G	NM_012334		16680162	16680162	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	1.000	T
NTMT1	28989	genome.wustl.edu	37	9	132397566	132397566	+	Missense_Mutation	SNP	C	C	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr9:132397566C>G	ENST00000372486.1	+	4	844	c.495C>G	c.(493-495)atC>atG	p.I165M	NTMT1_ENST00000372483.4_Missense_Mutation_p.I165M|NTMT1_ENST00000482347.1_Missense_Mutation_p.I77M|NTMT1_ENST00000372480.1_Missense_Mutation_p.I165M|NTMT1_ENST00000372481.3_Nonsense_Mutation_p.S137*			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	165					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										TCATCGTCATCAAAGACAACA	0.652																																						dbGAP											0													106.0	89.0	95.0					9																	132397566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.495C>G	9.37:g.132397566C>G	ENSP00000361564:p.Ile165Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Nonsense_Mutation	SNP	pfam_DUF858_MeTrfase_lik	p.S137*	ENST00000372486.1	37	c.410	CCDS35160.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.446744|4.446744	0.84101|0.84101	.|.	.|.	ENSG00000148335|ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480|ENST00000372481	T;T;T|.	0.27557|.	1.66;1.66;1.66|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.061993|.	0.64402|.	D|.	0.000004|.	T|.	0.70413|.	0.3221|.	L|L	0.49350|0.49350	1.555|1.555	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.54601|.	0.967|.	D|.	0.69479|.	0.964|.	T|.	0.73639|.	-0.3919|.	10|.	0.46703|0.72032	T|D	0.11|0.01	-34.9733|-34.9733	16.8907|16.8907	0.86086|0.86086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q9BV86|.	NTM1A_HUMAN|.	M|X	165|137	ENSP00000361564:I165M;ENSP00000361561:I165M;ENSP00000361558:I165M|.	ENSP00000361558:I165M|ENSP00000361559:S137X	I|S	+|+	3|2	3|0	METTL11A|METTL11A	131437387|131437387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	1.424000|1.424000	0.34848|0.34848	2.325000|2.325000	0.78763|0.78763	0.549000|0.549000	0.68633|0.68633	ATC|TCA	NTMT1	-	NULL	ENSG00000148335		0.652	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	44	0.00	0	C	NM_014064		132397566	132397566	+1	no_errors	ENST00000372481	ensembl	human	known	69_37n	nonsense	27	15.62	5	SNP	1.000	G
NUPL2	11097	genome.wustl.edu	37	7	23239802	23239802	+	Missense_Mutation	SNP	A	A	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr7:23239802A>C	ENST00000258742.5	+	7	969	c.710A>C	c.(709-711)aAc>aCc	p.N237T		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	237					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGTCAATAACAGCAGCAGT	0.393																																						dbGAP											0													43.0	42.0	42.0					7																	23239802		2203	4300	6503	-	-	-	SO:0001583	missense	0			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.710A>C	7.37:g.23239802A>C	ENSP00000258742:p.Asn237Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	smart_Znf_CCCH	p.N237T	ENST00000258742.5	37	c.710	CCDS5379.1	7	.	.	.	.	.	.	.	.	.	.	A	4.538	0.099798	0.08681	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.32272	1.47;1.46	5.22	-1.65	0.08291	.	0.769224	0.13433	N	0.388249	T	0.17874	0.0429	L	0.43152	1.355	0.09310	N	1	B	0.18610	0.029	B	0.17433	0.018	T	0.39210	-0.9625	10	0.02654	T	1	-0.8463	7.4015	0.26967	0.5267:0.1155:0.3578:0.0	.	237	O15504	NUPL2_HUMAN	T	237;262	ENSP00000258742:N237T;ENSP00000401475:N262T	ENSP00000258742:N237T	N	+	2	0	NUPL2	23206327	0.010000	0.17322	0.000000	0.03702	0.686000	0.39977	0.543000	0.23237	-0.052000	0.13311	-0.248000	0.11899	AAC	NUPL2	-	NULL	ENSG00000136243		0.393	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPL2	HGNC	protein_coding	OTTHUMT00000214017.2	31	0.00	0	A	NM_007342		23239802	23239802	+1	no_errors	ENST00000258742	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.000	C
OR10C1	442194	genome.wustl.edu	37	6	29407976	29407976	+	Silent	SNP	C	C	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr6:29407976C>T	ENST00000444197.2	+	1	894	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTACTTCTTCCTGCGCACCCT	0.572																																						dbGAP											0													189.0	162.0	172.0					6																	29407976		1511	2707	4218	-	-	-	SO:0001819	synonymous_variant	0				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.184C>T	6.37:g.29407976C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN7|Q96R18	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L62	ENST00000444197.2	37	c.184	CCDS34364.1	6																																																																																			OR10C1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000206474		0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	HGNC	protein_coding	OTTHUMT00000076415.2	38	0.00	0	C			29407976	29407976	+1	no_errors	ENST00000444197	ensembl	human	known	69_37n	silent	46	20.69	12	SNP	0.996	T
C19orf25	148223	genome.wustl.edu	37	19	1482188	1482188	+	5'Flank	DEL	T	T	-			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr19:1482188delT	ENST00000436106.2	-	0	0				PCSK4_ENST00000300954.5_Frame_Shift_Del_p.Y613fs|C19orf25_ENST00000591027.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCAGGATGTAGGCGGGGCC	0.711																																						dbGAP											0													6.0	4.0	5.0					19																	1482188		1931	3797	5728	-	-	-	SO:0001631	upstream_gene_variant	0			AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482188delT	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN6|Q8N9R7|Q8WV94	Frame_Shift_Del	DEL	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Y613fs	ENST00000436106.2	37	c.1838	CCDS45898.1	19																																																																																			PCSK4	-	superfamily_Growth_fac_rcpt	ENSG00000115257		0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449694.1	8	0.00	0	T	NM_152482		1482188	1482188	-1	no_errors	ENST00000300954	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.271	-
PHPT1	29085	genome.wustl.edu	37	9	139745248	139745248	+	Silent	SNP	C	C	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr9:139745248C>T	ENST00000247665.10	+	3	664	c.327C>T	c.(325-327)atC>atT	p.I109I	PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_3'UTR|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	109					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGAGAAAATCAAAGCCAAGT	0.612																																						dbGAP											0													108.0	99.0	102.0					9																	139745248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.327C>T	9.37:g.139745248C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	pfam_Ocnus	p.I109	ENST00000247665.10	37	c.327	CCDS7009.1	9																																																																																			PHPT1	-	pfam_Ocnus	ENSG00000054148		0.612	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	96	0.00	0	C	NM_014172		139745248	139745248	+1	no_errors	ENST00000247665	ensembl	human	known	69_37n	silent	52	10.34	6	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2149969	2149969	+	Silent	SNP	A	A	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr16:2149969A>C	ENST00000262304.4	-	29	10024	c.9816T>G	c.(9814-9816)cgT>cgG	p.R3272R	RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Silent_p.R3272R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3272					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAAACGGCTACGAGGCGGCC	0.637																																						dbGAP											0													17.0	14.0	15.0					16																	2149969		2151	4238	6389	-	-	-	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9816T>G	16.37:g.2149969A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_LipOase_LH2,pfam_GPS_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_1	p.V473G	ENST00000262304.4	37	c.1418	CCDS32369.1	16																																																																																			PKD1	-	NULL	ENSG00000008710		0.637	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	147	0.00	0	A			2149969	2149969	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000567946	ensembl	human	novel	69_37n	missense	111	15.27	20	SNP	0.903	C
PKLR	5313	genome.wustl.edu	37	1	155265234	155265234	+	Silent	SNP	C	C	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:155265234C>T	ENST00000342741.4	-	4	539	c.501G>A	c.(499-501)ctG>ctA	p.L167L	PKLR_ENST00000392414.3_Silent_p.L136L	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	167					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCACCCCCTGCAGGATCCCAG	0.716																																						dbGAP											0													14.0	16.0	16.0					1																	155265234		2196	4296	6492	-	-	-	SO:0001819	synonymous_variant	0			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.501G>A	1.37:g.155265234C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75758|P11973	Silent	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.L167	ENST00000342741.4	37	c.501	CCDS1109.1	1																																																																																			PKLR	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase	ENSG00000143627		0.716	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	75	0.00	0	C	NM_000298		155265234	155265234	-1	no_errors	ENST00000342741	ensembl	human	known	69_37n	silent	49	14.04	8	SNP	1.000	T
PLXNB3	5365	genome.wustl.edu	37	X	153031697	153031697	+	Intron	SNP	G	G	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chrX:153031697G>C	ENST00000361971.5	+	3	159				U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.C11S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCTGACTTGCTCCTTGCTC	0.687																																						dbGAP											0													45.0	44.0	45.0					X																	153031697		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.46-631G>C	X.37:g.153031697G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.C11S	ENST00000361971.5	37	c.32	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813226	0.16537	.	.	ENSG00000198753	ENST00000538966	T	0.01068	5.38	3.0	-4.84	0.03151	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	8	.	.	.	.	6.1211	0.20154	0.0:0.5336:0.2052:0.2612	.	11	F5H773	.	S	11	ENSP00000442736:C11S	.	C	+	2	0	PLXNB3	152684891	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.102000	0.10956	-0.997000	0.03450	0.422000	0.28245	TGC	PLXNB3	-	NULL	ENSG00000198753		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	129	0.00	0	G			153031697	153031697	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	0.000	C
RBBP4	5928	genome.wustl.edu	37	1	33123070	33123070	+	Silent	SNP	G	G	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:33123070G>T	ENST00000373493.5	+	3	366	c.207G>T	c.(205-207)ggG>ggT	p.G69G	RBBP4_ENST00000458695.2_Silent_p.G34G|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000414241.3_Silent_p.G68G|RBBP4_ENST00000373485.1_Silent_p.G69G	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	69					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTGTCCTGGGGACACACACAT	0.448																																						dbGAP											0													126.0	108.0	114.0					1																	33123070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.207G>T	1.37:g.33123070G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G69	ENST00000373493.5	37	c.207	CCDS366.1	1																																																																																			RBBP4	-	pfam_Histone-bd_RBBP4	ENSG00000162521		0.448	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	45	0.00	0	G	NM_005610		33123070	33123070	+1	no_errors	ENST00000373493	ensembl	human	known	69_37n	silent	38	15.56	7	SNP	0.921	T
RNF6	6049	genome.wustl.edu	37	13	26788508	26788508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr13:26788508G>C	ENST00000381588.4	-	5	2263	c.1511C>G	c.(1510-1512)tCa>tGa	p.S504*	RNF6_ENST00000346166.3_Nonsense_Mutation_p.S504*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Nonsense_Mutation_p.S148*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.S504*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	504					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTGAAGTTCTGACTCAGAATC	0.463																																						dbGAP											0													74.0	70.0	71.0					13																	26788508		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1511C>G	13.37:g.26788508G>C	ENSP00000371000:p.Ser504*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S504*	ENST00000381588.4	37	c.1511	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.122763	0.97300	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	.	.	.	4.64	4.64	0.57946	.	0.075827	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.9936	18.0633	0.89383	0.0:0.0:1.0:0.0	.	.	.	.	X	504;504;504;148	.	ENSP00000342121:S504X	S	-	2	0	RNF6	25686508	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.978000	0.93450	2.569000	0.86673	0.557000	0.71058	TCA	RNF6	-	NULL	ENSG00000127870		0.463	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	50	0.00	0	G	NM_005977		26788508	26788508	-1	no_errors	ENST00000346166	ensembl	human	known	69_37n	nonsense	39	11.36	5	SNP	1.000	C
S100A3	6274	genome.wustl.edu	37	1	153520190	153520190	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:153520190C>T	ENST00000368713.3	-	3	470	c.274G>A	c.(274-276)Gac>Aac	p.D92N	S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Missense_Mutation_p.D92N|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	92						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGGCAGTCCTTGAAGTAC	0.617																																						dbGAP											0													125.0	114.0	118.0					1																	153520190		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.274G>A	1.37:g.153520190C>T	ENSP00000357702:p.Asp92Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV51|Q6FGE4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.D92N	ENST00000368713.3	37	c.274	CCDS1043.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728306	0.48833	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.14144	2.53;2.53	5.02	2.1	0.27182	EF-hand-like domain (1);	0.441528	0.23526	N	0.047237	T	0.05044	0.0135	M	0.63843	1.955	0.24338	N	0.994973	B	0.06786	0.001	B	0.04013	0.001	T	0.33497	-0.9866	10	0.45353	T	0.12	.	7.6589	0.28392	0.0:0.729:0.0:0.271	.	92	P33764	S10A3_HUMAN	N	92	ENSP00000357702:D92N;ENSP00000357701:D92N	ENSP00000357701:D92N	D	-	1	0	S100A3	151786814	0.000000	0.05858	0.560000	0.28344	0.904000	0.53231	0.043000	0.13971	0.230000	0.21059	0.655000	0.94253	GAC	S100A3	-	NULL	ENSG00000188015		0.617	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A3	HGNC	protein_coding	OTTHUMT00000037726.1	75	0.00	0	C	NM_002960		153520190	153520190	-1	no_errors	ENST00000368712	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	0.971	T
SARDH	1757	genome.wustl.edu	37	9	136535741	136535741	+	Silent	SNP	G	G	A			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr9:136535741G>A	ENST00000371872.4	-	19	2717	c.2460C>T	c.(2458-2460)ggC>ggT	p.G820G	SARDH_ENST00000422262.2_Silent_p.G652G|SARDH_ENST00000439388.1_Silent_p.G820G|SARDH_ENST00000371868.1_Silent_p.G248G	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	820					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCGGCGGAGGCCTGCGGCCC	0.697																																						dbGAP											0													11.0	11.0	11.0					9																	136535741		2158	4253	6411	-	-	-	SO:0001819	synonymous_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2460C>T	9.37:g.136535741G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.G820	ENST00000371872.4	37	c.2460	CCDS6978.1	9																																																																																			SARDH	-	pfam_GCV_T_C	ENSG00000123453		0.697	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	69	0.00	0	G			136535741	136535741	-1	no_errors	ENST00000371872	ensembl	human	known	69_37n	silent	40	20.00	10	SNP	0.999	A
SGOL2	151246	genome.wustl.edu	37	2	201438212	201438212	+	Missense_Mutation	SNP	C	C	A			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr2:201438212C>A	ENST00000357799.4	+	7	3241	c.3143C>A	c.(3142-3144)aCt>aAt	p.T1048N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1048					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGCAAAGCACTACCACTTTG	0.333																																						dbGAP											0													90.0	89.0	89.0					2																	201438212		1822	4082	5904	-	-	-	SO:0001583	missense	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3143C>A	2.37:g.201438212C>A	ENSP00000350447:p.Thr1048Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.T1048N	ENST00000357799.4	37	c.3143	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	C	9.384	1.073779	0.20147	.	.	ENSG00000163535	ENST00000357799	T	0.15017	2.46	5.25	4.37	0.52481	.	1.077230	0.07299	N	0.873742	T	0.23210	0.0561	L	0.44542	1.39	0.23271	N	0.998006	P;P;P	0.48016	0.902;0.763;0.904	B;B;P	0.47573	0.293;0.226;0.55	T	0.16600	-1.0397	10	0.59425	D	0.04	0.1175	9.5307	0.39191	0.0:0.9051:0.0:0.0949	.	1048;1048;1048	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	1048	ENSP00000350447:T1048N	ENSP00000350447:T1048N	T	+	2	0	SGOL2	201146457	0.000000	0.05858	0.009000	0.14445	0.304000	0.27724	0.403000	0.20982	1.428000	0.47296	0.557000	0.71058	ACT	SGOL2	-	NULL	ENSG00000163535		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	19	0.00	0	C	NM_152524		201438212	201438212	+1	no_errors	ENST00000357799	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.022	A
SGPL1	8879	genome.wustl.edu	37	10	72604367	72604367	+	Missense_Mutation	SNP	G	G	T	rs370111307		TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr10:72604367G>T	ENST00000373202.3	+	3	365	c.165G>T	c.(163-165)tgG>tgT	p.W55C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	55					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TGATAGTCTGGGGATATGAGT	0.458																																					Colon(151;1054 2458 6676 40971)	dbGAP											0													160.0	144.0	150.0					10																	72604367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.165G>T	10.37:g.72604367G>T	ENSP00000362298:p.Trp55Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.W55C	ENST00000373202.3	37	c.165	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959069	0.74016	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	T;T	0.44482	0.92;1.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.56890	-0.7904	10	0.39692	T	0.17	-11.6596	17.1394	0.86748	0.0:0.0:1.0:0.0	.	55	O95470	SGPL1_HUMAN	C	55;38	ENSP00000362298:W55C;ENSP00000299297:W38C	ENSP00000299297:W38C	W	+	3	0	SGPL1	72274373	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	5.449000	0.66619	2.778000	0.95560	0.650000	0.86243	TGG	SGPL1	-	NULL	ENSG00000166224		0.458	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	71	0.00	0	G	NM_003901		72604367	72604367	+1	no_errors	ENST00000373202	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.997	T
SIX6	4990	genome.wustl.edu	37	14	60976445	60976445	+	Missense_Mutation	SNP	T	T	G			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr14:60976445T>G	ENST00000327720.5	+	1	777	c.329T>G	c.(328-330)gTg>gGg	p.V110G		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	110					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CTGGGACCTGTGGACAAGTAC	0.597																																						dbGAP											0													54.0	57.0	56.0					14																	60976445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.329T>G	14.37:g.60976445T>G	ENSP00000328596:p.Val110Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V110G	ENST00000327720.5	37	c.329	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048023	0.75846	.	.	ENSG00000184302	ENST00000327720	D	0.97256	-4.31	5.36	5.36	0.76844	.	0.056200	0.64402	D	0.000001	D	0.99023	0.9666	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99312	1.0904	10	0.87932	D	0	.	14.6968	0.69129	0.0:0.0:0.0:1.0	.	110	O95475	SIX6_HUMAN	G	110	ENSP00000328596:V110G	ENSP00000328596:V110G	V	+	2	0	SIX6	60046198	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.860000	0.86993	2.255000	0.74692	0.368000	0.22195	GTG	SIX6	-	NULL	ENSG00000184302		0.597	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	49	0.00	0	T			60976445	60976445	+1	no_errors	ENST00000327720	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	G
SRPK1	6732	genome.wustl.edu	37	6	35806552	35806552	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr6:35806552G>T	ENST00000373822.1	-	15	1833	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	SRPK1_ENST00000423325.2_Intron|SRPK1_ENST00000373825.2_Intron					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTGCCTATCAGCTCTATAATG	0.393																																					NSCLC(31;67 978 16289 24856 26454)	dbGAP											0													228.0	213.0	218.0					6																	35806552		876	1991	2867	-	-	-	SO:0001583	missense	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373822.1:c.1390C>A	6.37:g.35806552G>T	ENSP00000362928:p.Leu464Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.L464M	ENST00000373822.1	37	c.1390		6	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878661	0.72294	.	.	ENSG00000096063	ENST00000373822	T	0.65916	-0.18	5.57	5.57	0.84162	.	.	.	.	.	T	0.71005	0.3289	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74103	-0.3773	6	0.87932	D	0	.	15.3997	0.74830	0.0:0.0:1.0:0.0	.	.	.	.	M	464	ENSP00000362928:L464M	ENSP00000362928:L464M	L	-	1	2	SRPK1	35914530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.494000	0.66905	2.785000	0.95823	0.655000	0.94253	CTG	SRPK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000096063		0.393	SRPK1-201	KNOWN	basic	protein_coding	SRPK1	HGNC	protein_coding		33	0.00	0	G	NM_003137		35806552	35806552	-1	no_errors	ENST00000373822	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
TMEM63A	9725	genome.wustl.edu	37	1	226040471	226040471	+	Splice_Site	SNP	C	C	T			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr1:226040471C>T	ENST00000366835.3	-	20	2068		c.e20-1			NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGGCCTGGTTCTGGGAGGAGG	0.542																																						dbGAP											0													148.0	89.0	109.0					1																	226040471		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1798-1G>A	1.37:g.226040471C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI7|Q5TE96|Q8N2U2	Splice_Site	SNP	-	e18-1	ENST00000366835.3	37	c.1798-1	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584832	0.86748	.	.	ENSG00000196187	ENST00000366835	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5874	0.91196	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM63A	224107094	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.667000	0.83888	2.390000	0.81377	0.462000	0.41574	.	TMEM63A	-	-	ENSG00000196187		0.542	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	30	0.00	0	C	NM_014698	Intron	226040471	226040471	-1	no_errors	ENST00000366835	ensembl	human	known	69_37n	splice_site	24	29.41	10	SNP	1.000	T
TMPRSS15	5651	genome.wustl.edu	37	21	19698835	19698835	+	Missense_Mutation	SNP	A	A	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr21:19698835A>C	ENST00000284885.3	-	16	1868	c.1835T>G	c.(1834-1836)aTg>aGg	p.M612R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	612	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGCACAGTCATTCTGTTGGT	0.458																																						dbGAP											0													219.0	180.0	193.0					21																	19698835		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1835T>G	21.37:g.19698835A>C	ENSP00000284885:p.Met612Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.M612R	ENST00000284885.3	37	c.1835	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	A	15.48	2.847198	0.51164	.	.	ENSG00000154646	ENST00000284885	T	0.21191	2.02	5.27	5.27	0.74061	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	H	0.96970	3.915	0.54753	D	0.999986	D	0.89917	1.0	D	0.79784	0.993	T	0.74194	-0.3744	9	.	.	.	.	13.4292	0.61044	1.0:0.0:0.0:0.0	.	612	P98073	ENTK_HUMAN	R	612	ENSP00000284885:M612R	.	M	-	2	0	TMPRSS15	18620706	1.000000	0.71417	0.996000	0.52242	0.295000	0.27426	6.553000	0.73918	2.110000	0.64415	0.528000	0.53228	ATG	TMPRSS15	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000154646		0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	85	0.00	0	A	NM_002772		19698835	19698835	-1	no_errors	ENST00000284885	ensembl	human	known	69_37n	missense	48	33.78	25	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)											97.0	87.0	90.0					17																	7578268		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L194R	ENST00000269305.4	37	c.581	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	51	0.00	0	A	NM_000546		7578268	7578268	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.996	C
TTN	7273	genome.wustl.edu	37	2	179410788	179410788	+	Silent	SNP	G	G	A			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr2:179410788G>A	ENST00000591111.1	-	293	90476	c.90252C>T	c.(90250-90252)tgC>tgT	p.C30084C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.C22785C|TTN_ENST00000342175.6_Silent_p.C22852C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.C22660C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.C31725C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.C29157C|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30084	Fibronectin type-III 119. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCTAAAGTGCACTTCTCCT	0.502																																						dbGAP											0													71.0	70.0	70.0					2																	179410788		2014	4174	6188	-	-	-	SO:0001819	synonymous_variant	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.90252C>T	2.37:g.179410788G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	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.C29157	ENST00000591111.1	37	c.87471		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	31	0.00	0	G	NM_133378		179410788	179410788	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	19	13.64	3	SNP	1.000	A
ZNF549	256051	genome.wustl.edu	37	19	58050116	58050116	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YO-01A-21D-A28B-09	TCGA-LL-A5YO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5af23455-a0dc-4c6e-8577-e90599523caa	463b9a58-79b7-4b1c-abcb-25fe9c4de4e0	g.chr19:58050116G>A	ENST00000376233.3	+	4	1925	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	ZNF549_ENST00000240719.3_Missense_Mutation_p.E569K|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACAGTGGAGAGAGGCCTTA	0.463																																						dbGAP											0													65.0	66.0	66.0					19																	58050116		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1744G>A	19.37:g.58050116G>A	ENSP00000365407:p.Glu582Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV91|O43336|Q8NAR4	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.E582K	ENST00000376233.3	37	c.1744	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395900	0.83011	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.24350	1.86;1.86	2.6	0.315	0.15852	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32615	0.0835	L	0.46885	1.475	0.23806	N	0.996798	B;D	0.59767	0.409;0.986	B;P	0.57283	0.037;0.817	T	0.13953	-1.0490	9	0.59425	D	0.04	.	6.391	0.21587	0.2726:0.0:0.7274:0.0	.	582;569	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	569;582	ENSP00000240719:E569K;ENSP00000365407:E582K	ENSP00000240719:E569K	E	+	1	0	ZNF549	62741928	0.916000	0.31088	0.023000	0.16930	0.857000	0.48899	2.078000	0.41567	0.022000	0.15160	0.585000	0.79938	GAG	ZNF549	-	pfscan_Znf_C2H2	ENSG00000121406		0.463	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	34	0.00	0	G	NM_153263		58050116	58050116	+1	no_errors	ENST00000376233	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	0.890	A
