#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
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000377867.3_Intron			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	41	0.00	0	AG	NM_080871		150884267	150884268	-1	no_errors	ENST00000422024	ensembl	human	known	69_37n	frame_shift_del	34	12.82	5	DEL	0.003:0.000	-
C17orf49	124944	genome.wustl.edu	37	17	6920583	6920583	+	Silent	SNP	G	G	A			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr17:6920583G>A	ENST00000439424.2	+	6	594	c.518G>A	c.(517-519)tGa>tAa	p.*173*	RNASEK-C17orf49_ENST00000547302.2_Silent_p.*215*|C17orf49_ENST00000552402.1_Silent_p.*139*|C17orf49_ENST00000547709.1_3'UTR|AC040977.1_ENST00000593646.1_5'Flank|MIR497HG_ENST00000385194.1_RNA|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Silent_p.L174L|MIR497HG_ENST00000443997.1_RNA|C17orf49_ENST00000546760.1_Silent_p.L139L|C17orf49_ENST00000552775.1_Silent_p.L148L|MIR497HG_ENST00000385056.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	0					chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						CAGACAGCCTGACCCTGGATT	0.582																																						dbGAP											0													209.0	179.0	189.0					17																	6920583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.518G>A	17.37:g.6920583G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIV3|C9J4G0|E9PB29	Silent	SNP	superfamily_Homeodomain-like	p.L174	ENST00000439424.2	37	c.522	CCDS32542.1	17																																																																																			C17orf49	-	NULL	ENSG00000258315		0.582	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf49	Clone_based_vega_gene	protein_coding	OTTHUMT00000407666.1	385	0.00	0	G	NM_174893		6920583	6920583	+1	no_errors	ENST00000546495	ensembl	human	known	69_37n	silent	169	27.66	65	SNP	1.000	A
CDS1	1040	genome.wustl.edu	37	4	85530598	85530598	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr4:85530598A>G	ENST00000295887.5	+	3	685	c.262A>G	c.(262-264)Ata>Gta	p.I88V		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	412					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAACTGGTGGATACGTGGAAT	0.348																																						dbGAP											0													261.0	243.0	249.0					4																	85530598		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.262A>G	4.37:g.85530598A>G	ENSP00000295887:p.Ile88Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.I88V	ENST00000295887.5	37	c.262	CCDS3608.1	4	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822479	0.16678	.	.	ENSG00000163624	ENST00000295887	T	0.40756	1.02	5.57	5.57	0.84162	.	0.046280	0.85682	D	0.000000	T	0.24005	0.0581	N	0.05351	-0.065	0.48452	D	0.999651	B	0.15141	0.012	B	0.27076	0.076	T	0.10894	-1.0610	10	0.02654	T	1	-9.7953	15.7746	0.78204	1.0:0.0:0.0:0.0	.	88	Q92903	CDS1_HUMAN	V	88	ENSP00000295887:I88V	ENSP00000295887:I88V	I	+	1	0	CDS1	85749622	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.540000	0.53611	2.125000	0.65367	0.454000	0.30748	ATA	CDS1	-	pfam_PC_trans,pirsf_PC_Trfase_euk	ENSG00000163624		0.348	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS1	HGNC	protein_coding	OTTHUMT00000252817.2	619	0.00	0	A			85530598	85530598	+1	no_errors	ENST00000295887	ensembl	human	known	69_37n	missense	347	41.88	250	SNP	1.000	G
COTL1	23406	genome.wustl.edu	37	16	84600388	84600388	+	3'UTR	SNP	G	G	A			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr16:84600388G>A	ENST00000262428.4	-	0	654				COTL1_ENST00000564057.1_3'UTR|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1						defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						TGAGGCCGGCGGTCCTCTCCC	0.677																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.*63C>T	16.37:g.84600388G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDU3|D3DUL9|Q86XM5	RNA	SNP	-	NULL	ENST00000262428.4	37	NULL	CCDS10947.1	16																																																																																			COTL1	-	-	ENSG00000103187		0.677	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COTL1	HGNC	protein_coding	OTTHUMT00000269075.1	74	0.00	0	G	NM_021149		84600388	84600388	-1	no_errors	ENST00000567278	ensembl	human	known	69_37n	rna	64	17.95	14	SNP	0.001	A
CRNKL1	51340	genome.wustl.edu	37	20	20023120	20023120	+	Missense_Mutation	SNP	C	C	T	rs146936626		TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr20:20023120C>T	ENST00000377340.2	-	9	1527	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R487H|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R338H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	499	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTCTACCAAGCGCAAGTAATC	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18688	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													132.0	121.0	125.0					20																	20023120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1496G>A	20.37:g.20023120C>T	ENSP00000366557:p.Arg499His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.R499H	ENST00000377340.2	37	c.1496	CCDS33446.1	20	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.0	4.479204	0.84747	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.35421	1.31;1.31;1.31	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);	0.046777	0.85682	D	0.000000	T	0.50701	0.1631	H	0.94847	3.59	0.80722	D	1	P	0.39094	0.659	B	0.24701	0.055	T	0.67377	-0.5686	10	0.87932	D	0	-10.4676	20.3312	0.98718	0.0:1.0:0.0:0.0	.	499	Q9BZJ0	CRNL1_HUMAN	H	487;499;338	ENSP00000366544:R487H;ENSP00000366557:R499H;ENSP00000440733:R338H	ENSP00000366544:R487H	R	-	2	0	CRNKL1	19971120	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	CGC	CRNKL1	-	NULL	ENSG00000101343		0.453	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	203	0.00	0	C			20023120	20023120	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	188	11.68	25	SNP	1.000	T
FDFT1	2222	genome.wustl.edu	37	8	11679310	11679310	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr8:11679310G>A	ENST00000220584.4	+	4	655	c.433G>A	c.(433-435)Gac>Aac	p.D145N	FDFT1_ENST00000530664.1_Missense_Mutation_p.D81N|FDFT1_ENST00000528643.1_Missense_Mutation_p.D60N|FDFT1_ENST00000528812.1_Missense_Mutation_p.D81N|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000525777.1_Missense_Mutation_p.D60N|FDFT1_ENST00000525900.1_Missense_Mutation_p.D138N|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_Missense_Mutation_p.D34N	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	145					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		AGTGATTGCCGACATTTGCCG	0.418																																						dbGAP											0													199.0	186.0	190.0					8																	11679310		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.433G>A	8.37:g.11679310G>A	ENSP00000220584:p.Asp145Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.D145N	ENST00000220584.4	37	c.433	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.377159	0.95945	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.17	5.17	0.71159	Terpenoid synthase (2);	0.165679	0.51477	D	0.000089	D	0.83234	0.5210	M	0.76170	2.325	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	P;P;P	0.56700	0.804;0.718;0.718	D	0.84495	0.0613	10	0.54805	T	0.06	-32.8048	17.8494	0.88740	0.0:0.0:1.0:0.0	.	202;138;145	B4DND3;E9PNM1;P37268	.;.;FDFT_HUMAN	N	34;145;145;138;81;81;60;60	ENSP00000444248:D34N;ENSP00000431852:D145N;ENSP00000220584:D145N;ENSP00000434714:D138N;ENSP00000431749:D81N;ENSP00000432331:D81N;ENSP00000431649:D60N;ENSP00000436069:D60N	ENSP00000220584:D145N	D	+	1	0	FDFT1	11716719	1.000000	0.71417	0.978000	0.43139	0.783000	0.44284	8.189000	0.89712	2.711000	0.92665	0.561000	0.74099	GAC	FDFT1	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	ENSG00000079459		0.418	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	472	0.00	0	G			11679310	11679310	+1	no_errors	ENST00000220584	ensembl	human	known	69_37n	missense	254	14.72	44	SNP	1.000	A
GPR144	347088	genome.wustl.edu	37	9	127230042	127230042	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr9:127230042G>T	ENST00000334810.1	+	12	1990	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	664					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						TCTGTCATTTGTGGGCTGTGG	0.632																																						dbGAP											0													124.0	123.0	123.0					9																	127230042		692	1591	2283	-	-	-	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1990G>T	9.37:g.127230042G>T	ENSP00000335156:p.Val664Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V664L	ENST00000334810.1	37	c.1990	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513101	0.44660	.	.	ENSG00000180264	ENST00000334810	T	0.57907	0.37	4.68	3.65	0.41850	GPCR, family 2-like (1);	.	.	.	.	T	0.49541	0.1563	L	0.37800	1.135	0.29043	N	0.884989	P	0.38677	0.642	P	0.49387	0.609	T	0.51140	-0.8743	9	0.66056	D	0.02	.	3.6004	0.08023	0.3614:0.0:0.6386:0.0	.	664	Q7Z7M1	GP144_HUMAN	L	664	ENSP00000335156:V664L	ENSP00000335156:V664L	V	+	1	0	GPR144	126269863	1.000000	0.71417	0.578000	0.28575	0.052000	0.14988	4.896000	0.63222	2.153000	0.67306	0.655000	0.94253	GTG	GPR144	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000180264		0.632	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	145	0.00	0	G	NM_182611		127230042	127230042	+1	no_errors	ENST00000334810	ensembl	human	known	69_37n	missense	73	16.09	14	SNP	0.962	T
IGSF3	3321	genome.wustl.edu	37	1	117127361	117127361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr1:117127361G>T	ENST00000369486.3	-	9	3519	c.2754C>A	c.(2752-2754)tgC>tgA	p.C918*	IGSF3_ENST00000318837.6_Nonsense_Mutation_p.C938*|IGSF3_ENST00000369483.1_Nonsense_Mutation_p.C938*	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	918	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCACATGGCAGCTGTAGG	0.617																																						dbGAP											0													44.0	42.0	43.0					1																	117127361		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2754C>A	1.37:g.117127361G>T	ENSP00000358498:p.Cys918*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJZ6|A6NMC7	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.C938*	ENST00000369486.3	37	c.2814	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.510325	0.98329	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	.	.	.	4.8	4.8	0.61643	.	0.365735	0.25283	N	0.031783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-42.6231	8.895	0.35458	0.0981:0.0:0.9019:0.0	.	.	.	.	X	918;938;938	.	ENSP00000321184:C938X	C	-	3	2	IGSF3	116928884	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	3.034000	0.49751	2.490000	0.84030	0.655000	0.94253	TGC	IGSF3	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143061		0.617	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	51	0.00	0	G	NM_001542		117127361	117127361	-1	no_errors	ENST00000318837	ensembl	human	known	69_37n	nonsense	39	26.42	14	SNP	1.000	T
IQCH	64799	genome.wustl.edu	37	15	67664804	67664804	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr15:67664804C>T	ENST00000335894.4	+	9	1175	c.1109C>T	c.(1108-1110)tCg>tTg	p.S370L	IQCH_ENST00000360277.4_Missense_Mutation_p.S122L|IQCH_ENST00000546225.1_Missense_Mutation_p.S118L|IQCH_ENST00000358767.3_Missense_Mutation_p.S197L	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	370	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GATGGAAATTCGGAGGCCGCC	0.473																																						dbGAP											0													63.0	66.0	65.0					15																	67664804		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1109C>T	15.37:g.67664804C>T	ENSP00000336861:p.Ser370Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.S370L	ENST00000335894.4	37	c.1109	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.889398	0.00527	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.71222	0.9;0.9;0.91;-0.55	5.93	-11.9	0.00025	.	4.829610	0.00166	N	0.000000	T	0.50667	0.1629	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.0;0.0;0.001;0.002	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.001;0.002	T	0.21177	-1.0253	10	0.24483	T	0.36	-16.4299	3.4079	0.07348	0.2828:0.1739:0.0658:0.4775	.	197;118;122;370;197	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	L	197;118;370;122	ENSP00000351617:S197L;ENSP00000444118:S118L;ENSP00000336861:S370L;ENSP00000353419:S122L	ENSP00000336861:S370L	S	+	2	0	IQCH	65451858	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.084000	0.14891	-1.852000	0.01166	-0.140000	0.14226	TCG	IQCH	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000103599		0.473	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	61	0.00	0	C	NM_022784		67664804	67664804	+1	no_errors	ENST00000335894	ensembl	human	known	69_37n	missense	44	24.19	15	SNP	0.000	T
MAPKAP1	79109	genome.wustl.edu	37	9	128347966	128347966	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr9:128347966T>C	ENST00000373498.1	-	4	607	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.Y180C|MAPKAP1_ENST00000373503.3_5'UTR|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.Y180C|MAPKAP1_ENST00000373497.5_5'UTR|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.Y180C|MAPKAP1_ENST00000394063.1_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.Y180C			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	180	Interaction with MAP3K2.|Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CAGAGGGAGGTAGACATCGAT	0.562																																						dbGAP											0													208.0	133.0	158.0					9																	128347966		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.539A>G	9.37:g.128347966T>C	ENSP00000362597:p.Tyr180Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.Y180C	ENST00000373498.1	37	c.539	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589136	0.86851	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000468896	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.77557	0.951;0.951;0.987;0.988;0.99	T	0.81816	-0.0759	9	0.66056	D	0.02	-5.502	15.1835	0.72978	0.0:0.0:0.0:1.0	.	180;180;180;180;180	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	C	180;180;180;180;182;180;81	.	ENSP00000265960:Y180C	Y	-	2	0	MAPKAP1	127387787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.177000	0.69029	0.533000	0.62120	TAC	MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.562	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	124	0.00	0	T			128347966	128347966	-1	no_errors	ENST00000265960	ensembl	human	known	69_37n	missense	63	14.67	11	SNP	1.000	C
MAST1	22983	genome.wustl.edu	37	19	12976829	12976829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr19:12976829C>T	ENST00000251472.4	+	17	1981	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGTTTCTTTCGAGACCTGGA	0.602																																						dbGAP											0													67.0	63.0	65.0					19																	12976829		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1942C>T	19.37:g.12976829C>T	ENSP00000251472:p.Arg648*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.R648*	ENST00000251472.4	37	c.1942	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.649123	0.98412	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.89	3.83	0.44106	.	0.307070	0.29273	N	0.012628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-3.6314	6.8073	0.23784	0.1731:0.7343:0.0:0.0926	.	.	.	.	X	648	.	ENSP00000251472:R648X	R	+	1	2	MAST1	12837829	0.000000	0.05858	0.996000	0.52242	0.997000	0.91878	-0.901000	0.04093	1.162000	0.42619	0.563000	0.77884	CGA	MAST1	-	superfamily_Kinase-like_dom	ENSG00000105613		0.602	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	122	0.00	0	C	NM_014975		12976829	12976829	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	nonsense	81	13.83	13	SNP	0.595	T
KMT2C	58508	genome.wustl.edu	37	7	151859912	151859912	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr7:151859912C>T	ENST00000262189.6	-	43	10968	c.10750G>A	c.(10750-10752)Gga>Aga	p.G3584R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G3584R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3584					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGTTGATCCCGGATAACTG	0.423																																						dbGAP											0													72.0	68.0	69.0					7																	151859912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10750G>A	7.37:g.151859912C>T	ENSP00000262189:p.Gly3584Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G3584R	ENST00000262189.6	37	c.10750	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.85|13.85	2.358929|2.358929	0.41801|0.41801	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.90900	.|-1.84;-1.89;-2.75	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.147269|0.147269	0.30695|0.30695	N|N	0.009072|0.009072	D|D	0.93993|0.93993	0.8076|0.8076	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.63046	.|0.947;0.977;0.992	.|P;P;P	.|0.60068	.|0.622;0.803;0.868	D|D	0.94147|0.94147	0.7402|0.7402	6|10	.|0.66056	.|D	.|0.02	.|.	19.451|19.451	0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3584;2645;3584	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	E|R	1089|3584;3584;170	.|ENSP00000262189:G3584R;ENSP00000347325:G3584R;ENSP00000410411:G170R	.|ENSP00000262189:G3584R	G|G	-|-	2|1	0|0	MLL3|MLL3	151490845|151490845	0.979000|0.979000	0.34478|0.34478	0.075000|0.075000	0.20258|0.20258	0.126000|0.126000	0.20510|0.20510	7.389000|7.389000	0.79806|0.79806	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GGG|GGA	MLL3	-	NULL	ENSG00000055609		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	226	0.00	0	C			151859912	151859912	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	163	23.11	49	SNP	0.963	T
NASP	4678	genome.wustl.edu	37	1	46073222	46073222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr1:46073222delA	ENST00000350030.3	+	6	726	c.639delA	c.(637-639)gcafs	p.A213fs	NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Frame_Shift_Del_p.A149fs|NASP_ENST00000402363.3_Frame_Shift_Del_p.A215fs	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	213	Glu-rich (acidic).|Histone-binding.				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTGAAGAGGCAAAAGGAGGAG	0.453																																						dbGAP											0													43.0	46.0	45.0					1																	46073222		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.639delA	1.37:g.46073222delA	ENSP00000255120:p.Ala213fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Frame_Shift_Del	DEL	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G217fs	ENST00000350030.3	37	c.645	CCDS524.1	1																																																																																			NASP	-	NULL	ENSG00000132780		0.453	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	77	0.00	0	A	NM_002482		46073222	46073222	+1	no_errors	ENST00000402363	ensembl	human	known	69_37n	frame_shift_del	61	35.79	34	DEL	0.076	-
PLA2G4E	123745	genome.wustl.edu	37	15	42292345	42292345	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr15:42292345G>T	ENST00000399518.3	-	8	1295	c.809C>A	c.(808-810)tCc>tAc	p.S270Y	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.S241Y|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	263					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTGCACCTGGGACTGGAAGTA	0.642																																						dbGAP											0													37.0	42.0	41.0					15																	42292345		2013	4169	6182	-	-	-	SO:0001583	missense	0				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.809C>A	15.37:g.42292345G>T	ENSP00000382434:p.Ser270Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSC0	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.S241Y	ENST00000399518.3	37	c.722	CCDS55962.1	15	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615151	0.66672	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01584	4.85;4.75	5.04	5.04	0.67666	.	0.675004	0.12566	U	0.457780	T	0.05456	0.0144	M	0.62723	1.935	0.25119	N	0.990652	P	0.50819	0.939	P	0.49561	0.615	T	0.22243	-1.0222	10	0.66056	D	0.02	-19.4174	14.2296	0.65882	0.0:0.0:1.0:0.0	.	241	C9JK77	.	Y	270;241	ENSP00000382434:S270Y;ENSP00000413897:S241Y	ENSP00000382434:S270Y	S	-	2	0	PLA2G4E	40079637	0.973000	0.33851	0.760000	0.31359	0.708000	0.40852	5.016000	0.64041	2.508000	0.84585	0.563000	0.77884	TCC	PLA2G4E	-	NULL	ENSG00000188089		0.642	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PLA2G4E	HGNC	protein_coding	OTTHUMT00000252738.2	202	0.00	0	G	NM_198442		42292345	42292345	-1	no_errors	ENST00000413860	ensembl	human	known	69_37n	missense	119	17.36	25	SNP	0.978	T
PRAMEF7	441871	genome.wustl.edu	37	1	12980075	12980075	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr1:12980075G>T	ENST00000361079.2	+	4	1350	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	423					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAGGGTGCTCTCTGCTG	0.587																																						dbGAP											0													38.0	40.0	40.0					1																	12980075		1261	2764	4025	-	-	-	SO:0001583	missense	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1267G>T	1.37:g.12980075G>T	ENSP00000354371:p.Ala423Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP0	Missense_Mutation	SNP	NULL	p.A423S	ENST00000361079.2	37	c.1267	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.787419	0.31593	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.48836	0.8;0.8	1.68	-2.53	0.06326	.	1.871560	0.02519	N	0.092404	T	0.34077	0.0885	L	0.29908	0.895	0.09310	N	1	P	0.44690	0.841	B	0.40825	0.341	T	0.23297	-1.0192	10	0.16896	T	0.51	.	7.6644	0.28421	0.3081:0.0:0.6919:0.0	.	423	Q5VXH5	PRAM7_HUMAN	S	423	ENSP00000354371:A423S;ENSP00000328915:A423S	ENSP00000328915:A423S	A	+	1	0	PRAMEF7	12902662	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-0.863000	0.04259	-0.726000	0.04895	0.306000	0.20318	GCT	PRAMEF7	-	NULL	ENSG00000204510		0.587	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		135	0.00	0	G	NM_001012277		12980075	12980075	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	missense	80	45.95	68	SNP	0.000	T
TM9SF2	9375	genome.wustl.edu	37	13	100190011	100190011	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr13:100190011G>C	ENST00000376387.4	+	6	800	c.610G>C	c.(610-612)Gat>Cat	p.D204H	TM9SF2_ENST00000463709.1_3'UTR|RNY3P6_ENST00000390895.1_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	204					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CCATGAAAGAGATACATTTTA	0.348																																						dbGAP											0													61.0	61.0	61.0					13																	100190011		2202	4298	6500	-	-	-	SO:0001583	missense	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.610G>C	13.37:g.100190011G>C	ENSP00000365567:p.Asp204His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K399|Q2TAY5	Missense_Mutation	SNP	pfam_EMP70	p.D204H	ENST00000376387.4	37	c.610	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364400	0.41902	.	.	ENSG00000125304	ENST00000376387	T	0.44482	0.92	5.43	4.59	0.56863	.	0.227920	0.51477	D	0.000100	T	0.40196	0.1107	L	0.45698	1.435	0.45035	D	0.998055	B	0.19935	0.04	B	0.32342	0.144	T	0.27571	-1.0070	10	0.42905	T	0.14	-17.0612	11.7818	0.52020	0.1426:0.0:0.8574:0.0	.	204	Q99805	TM9S2_HUMAN	H	204	ENSP00000365567:D204H	ENSP00000365567:D204H	D	+	1	0	TM9SF2	98988012	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.173000	0.50839	1.430000	0.47334	0.456000	0.33151	GAT	TM9SF2	-	pfam_EMP70	ENSG00000125304		0.348	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	170	0.00	0	G			100190011	100190011	+1	no_errors	ENST00000376387	ensembl	human	known	69_37n	missense	169	15.50	31	SNP	1.000	C
VDAC2	7417	genome.wustl.edu	37	10	76979101	76979101	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr10:76979101T>A	ENST00000332211.6	+	6	556	c.343T>A	c.(343-345)Tca>Aca	p.S115T	VDAC2_ENST00000543351.1_Missense_Mutation_p.S115T|VDAC2_ENST00000313132.4_Missense_Mutation_p.S130T|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000535553.1_Missense_Mutation_p.S76T	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	115					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TACTACCTTCTCACCAAACAC	0.249																																						dbGAP											0													53.0	54.0	53.0					10																	76979101		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.343T>A	10.37:g.76979101T>A	ENSP00000361686:p.Ser115Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.S130T	ENST00000332211.6	37	c.388	CCDS7348.1	10	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235568	0.58886	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.83953	2.67	0.58432	D	0.999999	P;P;B	0.37207	0.459;0.587;0.384	B;P;B	0.45071	0.406;0.468;0.443	T	0.53662	-0.8407	10	0.16896	T	0.51	.	15.1356	0.72562	0.0:0.0:0.0:1.0	.	76;130;115	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	T	115;115;115;115;76;130;115	ENSP00000298468:S115T;ENSP00000443092:S115T;ENSP00000344876:S115T;ENSP00000361686:S115T;ENSP00000445901:S76T;ENSP00000361635:S130T;ENSP00000401492:S115T	ENSP00000298468:S115T	S	+	1	0	VDAC2	76649107	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.186000	0.72026	1.978000	0.57642	0.460000	0.39030	TCA	VDAC2	-	pfam_Porin_Euk	ENSG00000165637		0.249	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC2	HGNC	protein_coding	OTTHUMT00000048792.1	212	0.00	0	T	NM_003375		76979101	76979101	+1	no_errors	ENST00000313132	ensembl	human	known	69_37n	missense	120	25.00	40	SNP	1.000	A
ZC3H13	23091	genome.wustl.edu	37	13	46616352	46616352	+	Missense_Mutation	SNP	C	C	A	rs199682940		TCGA-BH-A1ES-01A-11D-A135-09	TCGA-BH-A1ES-11A-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7ecda44b-e942-4077-9d18-2a844ec53c9d	b281f983-29fc-4389-bea2-cabf4c90b3df	g.chr13:46616352C>A	ENST00000242848.4	-	4	634	c.286G>T	c.(286-288)Gtg>Ttg	p.V96L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	96							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCAGTGTCCACGTCTTGGCGC	0.413																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													211.0	193.0	199.0					13																	46616352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.286G>T	13.37:g.46616352C>A	ENSP00000242848:p.Val96Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.V96L	ENST00000242848.4	37	c.286		13	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052734	0.36181	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.36878	2.18;1.23	5.43	4.59	0.56863	.	0.000000	0.51477	D	0.000087	T	0.28797	0.0714	L	0.27053	0.805	0.80722	D	1	P;P	0.39809	0.562;0.689	B;B	0.42062	0.207;0.374	T	0.04454	-1.0950	10	0.39692	T	0.17	.	11.295	0.49274	0.0:0.8533:0.0:0.1467	.	96;96	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	L	96	ENSP00000242848:V96L;ENSP00000282007:V96L	ENSP00000242848:V96L	V	-	1	0	ZC3H13	45514353	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.503000	0.53340	1.300000	0.44818	0.467000	0.42956	GTG	ZC3H13	-	NULL	ENSG00000123200		0.413	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	309	0.00	0	C	NM_015070		46616352	46616352	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	missense	341	26.51	123	SNP	1.000	A
