#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_CAF	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MAGEB18	286514	genome.wustl.edu	37	X	26157793	26157793	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chrX:26157793G>A	ENST00000325250.1	+	2	878	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	231	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.D231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTATATGCCGATAGGAAGCA	0.498																																							0											1	Substitution - Missense(1)	cervix(1)											49.0	43.0	45.0					X																	26157793		2202	4300	6502	SO:0001583	missense	0			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.691G>A	X.37:g.26157793G>A	ENSP00000314543:p.Asp231Asn			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D231N	ENST00000325250.1	37	c.691	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	G	5.343	0.248606	0.10130	.	.	ENSG00000176774	ENST00000325250	T	0.04654	3.58	4.56	2.44	0.29823	.	0.414727	0.26859	N	0.022129	T	0.03263	0.0095	N	0.20807	0.61	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.39354	-0.9618	10	0.59425	D	0.04	.	5.4632	0.16627	0.3089:0.0:0.6911:0.0	.	231	Q96M61	MAGBI_HUMAN	N	231	ENSP00000314543:D231N	ENSP00000314543:D231N	D	+	1	0	MAGEB18	26067714	0.181000	0.23161	0.137000	0.22149	0.059000	0.15707	0.957000	0.29215	0.473000	0.27368	0.600000	0.82982	GAT	0	pfam_MAGE,pfscan_MAGE		0.498	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	protein_coding	OTTHUMT00000056120.1	32	113	0	0.00	0	0	G	NM_173699	0	0		26157793	1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	17	71	46.88	44.53	15	57	SNP	0.136	A
FAM73A	374986	genome.wustl.edu	37	1	78332037	78332037	+	Silent	SNP	T	T	C			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr1:78332037T>C	ENST00000370791.3	+	14	1556	c.1524T>C	c.(1522-1524)agT>agC	p.S508S	FAM73A_ENST00000443751.2_Silent_p.S470S	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	508						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGGCTTCAAGTTGTTGGTCGG	0.323																																							0											0													100.0	104.0	103.0					1																	78332037		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1524T>C	1.37:g.78332037T>C			Q6MZG0	Silent	SNP	pfam_DUF2217	p.S508	ENST00000370791.3	37	c.1524	CCDS681.1	1																																																																																			0	pfam_DUF2217		0.323	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	protein_coding	OTTHUMT00000026931.1	129	262	0	0.00	0	0	T	NM_198549	0	0		78332037	1	no_errors	ENST00000370791	ensembl	human	known	74_37	silent	87	193	19.44	26.89	21	71	SNP	1	C
RAB29	8934	genome.wustl.edu	37	1	205739888	205739888	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr1:205739888T>C	ENST00000367139.3	-	5	776	c.473A>G	c.(472-474)gAg>gGg	p.E158G	RAB7L1_ENST00000235932.4_Missense_Mutation_p.E158G|RAB7L1_ENST00000437324.2_Missense_Mutation_p.E86G|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E158G|RAB7L1_ENST00000446390.2_Missense_Mutation_p.E134G	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		158					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ATTTTTGTTCTCCTTGACTGA	0.473																																					Pancreas(25;658 872 27763 34889 38531)		0											0													173.0	128.0	143.0					1																	205739888		2203	4300	6503	SO:0001583	missense	0																														ENST00000367139.3:c.473A>G	1.37:g.205739888T>C	ENSP00000356107:p.Glu158Gly		B4E1K3|C9JE77	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E158G	ENST00000367139.3	37	c.473	CCDS1459.1	1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560980	0.86335	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80480	-1.38;-1.38;-0.5;-1.38;-1.38	5.16	5.16	0.70880	Small GTP-binding protein domain (1);	0.117770	0.56097	D	0.000030	D	0.87325	0.6149	M	0.64260	1.97	0.45307	D	0.998306	D;D	0.76494	0.999;0.992	D;D	0.72982	0.979;0.944	D	0.88234	0.2905	10	0.62326	D	0.03	-2.4076	13.5022	0.61462	0.0:0.0:0.0:1.0	.	134;158	B4E1K3;O14966	.;RAB7L_HUMAN	G	158;158;86;134;158	ENSP00000356107:E158G;ENSP00000235932:E158G;ENSP00000416613:E86G;ENSP00000389899:E134G;ENSP00000402910:E158G	ENSP00000235932:E158G	E	-	2	0	RAB7L1	204006511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.301000	0.65727	2.070000	0.61991	0.459000	0.35465	GAG	0	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.473	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB7L1	protein_coding	OTTHUMT00000087732.1	30	293	0	0.00	0	0	T		0	0		205739888	-1	no_errors	ENST00000235932	ensembl	human	known	74_37	missense	14	175	50	43.77	14	137	SNP	1	C
LBH	81606	genome.wustl.edu	37	2	30480360	30480360	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:30480360T>C	ENST00000395323.3	+	3	399	c.191T>C	c.(190-192)aTa>aCa	p.I64T	LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.I47T|LBH_ENST00000401506.1_Missense_Mutation_p.I70T	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	64					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					CTGCCCTCCATAGTGGTGGAA	0.572																																							0											0													58.0	64.0	62.0					2																	30480360		2203	4300	6503	SO:0001583	missense	0			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.191T>C	2.37:g.30480360T>C	ENSP00000378733:p.Ile64Thr		B2RBC2|Q9H0Q1	Missense_Mutation	SNP	pirsf_LBH,prints_LBH	p.I64T	ENST00000395323.3	37	c.191	CCDS33173.1	2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221250	0.79464	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.80190	-0.1485	9	0.87932	D	0	-23.2654	13.5584	0.61773	0.0:0.0:0.0:1.0	.	64	Q53QV2	LBH_HUMAN	T	64;70;47	.	ENSP00000378733:I64T	I	+	2	0	LBH	30333864	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.715000	0.84713	1.803000	0.52742	0.459000	0.35465	ATA	0	pirsf_LBH,prints_LBH		0.572	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	protein_coding	OTTHUMT00000325091.1	16	136	0	0.00	0	0	T	NM_030915	0	0		30480360	1	no_errors	ENST00000395323	ensembl	human	known	74_37	missense	16	98	27.27	23.66	6	31	SNP	1	C
SCN1A	6323	genome.wustl.edu	37	2	166903446	166903446	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:166903446A>G	ENST00000303395.4	-	9	1210	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V404A|SCN1A_ENST00000423058.2_Missense_Mutation_p.V404A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V404A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	404					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGACCAATACAAAAAATAT	0.398																																							0											0													102.0	99.0	100.0					2																	166903446		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1211T>C	2.37:g.166903446A>G	ENSP00000303540:p.Val404Ala		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.V404A	ENST00000303395.4	37	c.1211	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714418	0.89112	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99248	0.9738	M	0.90019	3.08	0.80722	D	1	D;D;D	0.69078	0.994;0.996;0.997	P;D;D	0.79108	0.908;0.981;0.992	D	0.99204	1.0874	10	0.87932	D	0	.	15.8917	0.79303	1.0:0.0:0.0:0.0	.	404;404;404	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	A	404	ENSP00000407030:V404A;ENSP00000303540:V404A;ENSP00000364554:V404A;ENSP00000386312:V404A	ENSP00000303540:V404A	V	-	2	0	SCN1A	166611692	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.284000	0.95882	2.212000	0.71576	0.533000	0.62120	GTA	0	pfam_Ion_trans_dom		0.398	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	88	121	0	0.00	0	0	A	NM_006920	0	0		166903446	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	58	87	17.14	24.35	12	28	SNP	1	G
CCDC141	285025	genome.wustl.edu	37	2	179742828	179742828	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:179742828C>G	ENST00000409284.1	-	12	1879	c.1762G>C	c.(1762-1764)Gaa>Caa	p.E588Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.E13Q|CCDC141_ENST00000420890.2_Missense_Mutation_p.E588Q			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	588										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGAGGGATTTCGGTTTCATAA	0.343																																							0											0													73.0	70.0	71.0					2																	179742828		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1762G>C	2.37:g.179742828C>G	ENSP00000386503:p.Glu588Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E588Q	ENST00000409284.1	37	c.1762		2	.	.	.	.	.	.	.	.	.	.	c	10.91	1.482798	0.26598	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.50277	0.75;1.37;1.31;1.34	5.3	0.396	0.16309	.	0.575074	0.15308	N	0.269202	T	0.28466	0.0704	L	0.27053	0.805	0.09310	N	1	B;P	0.41748	0.389;0.761	B;B	0.35278	0.103;0.199	T	0.11421	-1.0588	10	0.25751	T	0.34	-0.0376	10.3776	0.44092	0.0:0.622:0.0:0.378	.	588;13	B8ZZB3;Q6ZP82	.;CC141_HUMAN	Q	588;32;13;588;523;588	ENSP00000395995:E588Q;ENSP00000344627:E32Q;ENSP00000295723:E13Q;ENSP00000390190:E588Q	ENSP00000295723:E13Q	E	-	1	0	CCDC141	179451073	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.108000	0.15396	-0.214000	0.10078	-1.163000	0.01768	GAA	0	NULL		0.343	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	protein_coding	OTTHUMT00000335873.1	45	244	0	0.00	0	0	C	NM_173648	0	0		179742828	-1	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	18	174	25	22.12	6	50	SNP	0	G
SPHKAP	80309	genome.wustl.edu	37	2	228855819	228855819	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:228855819C>T	ENST00000392056.3	-	11	4902	c.4856G>A	c.(4855-4857)tGt>tAt	p.C1619Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.C1590Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1619						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCATCTGGACACTCTGGCTC	0.542																																							0											0													50.0	51.0	51.0					2																	228855819		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4856G>A	2.37:g.228855819C>T	ENSP00000375909:p.Cys1619Tyr		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.C1619Y	ENST00000392056.3	37	c.4856	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398670	0.83120	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06218	3.33;3.33	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.138939	0.64402	D	0.000002	T	0.25644	0.0624	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.959	T	0.00006	-1.2515	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1619;1590	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	1619;1590	ENSP00000375909:C1619Y;ENSP00000339886:C1590Y	ENSP00000339886:C1590Y	C	-	2	0	SPHKAP	228564063	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.194000	0.77789	2.941000	0.99782	0.655000	0.94253	TGT	0	pfam_AKAP_110_C		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	31	82	0	0.00	0	0	C	NM_030623	0	0		228855819	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	18	66	37.93	14.29	11	11	SNP	1	T
PROS1	5627	genome.wustl.edu	37	3	93595864	93595864	+	Missense_Mutation	SNP	C	C	G	rs371885410		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr3:93595864C>G	ENST00000394236.3	-	14	2132	c.1816G>C	c.(1816-1818)Gtc>Ctc	p.V606L	PROS1_ENST00000407433.1_Missense_Mutation_p.V475L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	606	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTGTCCAAGACGGCAAGTTGT	0.388																																							0											0													137.0	129.0	132.0					3																	93595864		2203	4300	6503	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1816G>C	3.37:g.93595864C>G	ENSP00000377783:p.Val606Leu		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.V606L	ENST00000394236.3	37	c.1816	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	4.269	0.048930	0.08243	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77620	-1.11;-1.11	4.64	-2.22	0.06952	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.323490	0.04571	N	0.393299	T	0.64080	0.2566	N	0.25647	0.755	0.26688	N	0.971406	B	0.27498	0.18	B	0.29077	0.098	T	0.49184	-0.8966	10	0.09084	T	0.74	.	10.6686	0.45745	0.0:0.5009:0.0:0.4991	.	606	P07225	PROS_HUMAN	L	606;475	ENSP00000377783:V606L;ENSP00000385794:V475L	ENSP00000377783:V606L	V	-	1	0	PROS1	95078554	0.001000	0.12720	0.041000	0.18516	0.174000	0.22865	-0.861000	0.04268	-0.565000	0.06061	-0.351000	0.07748	GTC	0	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	protein_coding	OTTHUMT00000317762.1	123	92	0	0.00	0	0	C	NM_000313	0	0		93595864	-1	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	66	46	25.84	28.12	23	18	SNP	0.591	G
LRRC66	339977	genome.wustl.edu	37	4	52883540	52883540	+	Silent	SNP	C	C	G	rs368082372		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr4:52883540C>G	ENST00000343457.3	-	1	246	c.240G>C	c.(238-240)acG>acC	p.T80T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	80						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTCTTTTTTCGTGTGAGACT	0.368																																							0											0													110.0	107.0	108.0					4																	52883540		1844	4092	5936	SO:0001819	synonymous_variant	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.240G>C	4.37:g.52883540C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T80	ENST00000343457.3	37	c.240	CCDS43229.1	4																																																																																			0	NULL		0.368	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	protein_coding	OTTHUMT00000361473.1	54	312	0	0.00	0	0	C	NM_001024611	0	0		52883540	-1	no_errors	ENST00000343457	ensembl	human	known	74_37	silent	47	213	24.19	25.00	15	71	SNP	0.001	G
NDUFS6	4726	genome.wustl.edu	37	5	1814659	1814659	+	Intron	SNP	G	G	A			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr5:1814659G>A	ENST00000274137.5	+	3	327				NDUFS6_ENST00000469176.1_Silent_p.L131L	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)						cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						TGTTCTTTCTGTCCTCTTCTC	0.567																																							0											0																																										SO:0001627	intron_variant	0			BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.309+84G>A	5.37:g.1814659G>A				Silent	SNP	pfam_Znf_CHCC	p.L131	ENST00000274137.5	37	c.393	CCDS3866.1	5																																																																																			0	NULL		0.567	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS6	protein_coding	OTTHUMT00000206744.2	23	110	0	0.00	0	0	G	NM_004553	0	0		1814659	1	no_errors	ENST00000469176	ensembl	human	putative	74_37	silent	14	90	39.13	28.00	9	35	SNP	0	A
CLIP2	7461	genome.wustl.edu	37	7	73803544	73803544	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr7:73803544C>G	ENST00000395060.1	+	12	2675	c.2675C>G	c.(2674-2676)tCg>tGg	p.S892W	CLIP2_ENST00000361545.5_Missense_Mutation_p.S857W|CLIP2_ENST00000223398.6_Missense_Mutation_p.S892W			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	892						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATGACGCCTCGGGCCAGCTA	0.672																																							0											0													29.0	27.0	28.0					7																	73803544		2203	4300	6503	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2675C>G	7.37:g.73803544C>G	ENSP00000378500:p.Ser892Trp		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.S892W	ENST00000395060.1	37	c.2675	CCDS5569.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.294616|4.294616	0.81025|0.81025	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|D;D;D	.|0.83075	.|-1.68;-1.68;-1.68	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.138075	.|0.50627	.|D	.|0.000106	D|D	0.84687|0.84687	0.5527|0.5527	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.87585|0.87585	0.2487|0.2487	5|10	.|0.87932	.|D	.|0	-8.9614|-8.9614	15.671|15.671	0.77274|0.77274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|857;892	.|Q9UDT6-2;Q9UDT6	.|.;CLIP2_HUMAN	G|W	142|892;892;857;892	.|ENSP00000223398:S892W;ENSP00000355151:S857W;ENSP00000378500:S892W	.|ENSP00000223398:S892W	R|S	+|+	1|2	2|0	CLIP2|CLIP2	73441480|73441480	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	7.008000|7.008000	0.76341|0.76341	2.085000|2.085000	0.62840|0.62840	0.655000|0.655000	0.94253|0.94253	CGG|TCG	0	NULL		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	30	61	0	0.00	0	0	C	NM_003388	0	0		73803544	1	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	39	30	17.02	14.29	8	5	SNP	0.998	G
IMPA1	3612	genome.wustl.edu	37	8	82593786	82593786	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr8:82593786G>C	ENST00000256108.5	-	2	475	c.10C>G	c.(10-12)Cct>Gct	p.P4A	IMPA1_ENST00000311489.4_Missense_Mutation_p.P4A|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.P63A	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	4					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCCTGCCAAGGATCAGCCATC	0.328																																							0											0													91.0	86.0	88.0					8																	82593786		2203	4300	6503	SO:0001583	missense	0				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.10C>G	8.37:g.82593786G>C	ENSP00000256108:p.Pro4Ala		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase	p.P63A	ENST00000256108.5	37	c.187	CCDS6231.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.22|11.22	1.575253|1.575253	0.28092|0.28092	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000256108;ENST00000311489;ENST00000449740;ENST00000521360;ENST00000522997;ENST00000518202|ENST00000523942	T;T;T;T;T;T|.	0.41400|.	1.65;1.63;1.61;1.0;1.59;1.63|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	0.370972|.	0.29133|.	N|.	0.013051|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.52126|0.52126	1.63|1.63	0.33337|0.33337	D|D	0.569427|0.569427	B;B;B|.	0.15930|.	0.007;0.015;0.001|.	B;B;B|.	0.16722|.	0.002;0.016;0.002|.	T|T	0.68209|0.68209	-0.5469|-0.5469	10|5	0.18710|.	T|.	0.47|.	0.1725|0.1725	15.8678|15.8678	0.79076|0.79076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;63;4|.	B4DLN3;B7Z6Q4;P29218|.	.;.;IMPA1_HUMAN|.	A|C	4;4;63;4;63;4|28	ENSP00000256108:P4A;ENSP00000311803:P4A;ENSP00000408526:P63A;ENSP00000430283:P4A;ENSP00000430081:P63A;ENSP00000429516:P4A|.	ENSP00000256108:P4A|.	P|S	-|-	1|2	0|0	IMPA1|IMPA1	82756341|82756341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	3.757000|3.757000	0.55212|0.55212	1.877000|1.877000	0.54381|0.54381	0.289000|0.289000	0.19496|0.19496	CCT|TCC	0	NULL		0.328	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA1	protein_coding	OTTHUMT00000379723.1	79	126	0	0.00	0	0	G		0	0		82593786	-1	no_errors	ENST00000449740	ensembl	human	known	74_37	missense	26	118	25.71	22.37	9	34	SNP	1	C
TRPM3	80036	genome.wustl.edu	37	9	73736100	73736100	+	Silent	SNP	A	A	T	rs367660235		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr9:73736100A>T	ENST00000377111.2	-	1	414	c.171T>A	c.(169-171)ctT>ctA	p.L57L	TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377110.3_Silent_p.L57L|TRPM3_ENST00000357533.2_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	57					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTACCTTCAGAAGTCTGACAG	0.502																																							0											0													80.0	82.0	81.0					9																	73736100		1962	4149	6111	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.171T>A	9.37:g.73736100A>T			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.L57	ENST00000377111.2	37	c.171		9																																																																																			0	NULL		0.502	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	23	206	0	0.00	0	0	A	NM_206945	0	0		73736100	-1	no_errors	ENST00000377110	ensembl	human	known	74_37	silent	19	149	34.48	21.16	10	40	SNP	0.999	T
DMBT1P1	375940	genome.wustl.edu	37	10	124545544	124545544	+	RNA	SNP	C	C	A			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr10:124545544C>A	ENST00000439464.2	+	0	2551					NR_003570.1																						GATTGCCTCGCTCTCCATGGG	0.483																																							0											0																																												0																															10.37:g.124545544C>A				RNA	SNP	0	NULL	ENST00000439464.2	37	NULL		10																																																																																			0	0		0.483	RP11-318C4.2-001	KNOWN	basic	processed_transcript	FLJ46361	pseudogene	OTTHUMT00000471298.1	95	194	0	0.51	0	1	C		0	0		124545544	1	no_errors	ENST00000439464	ensembl	human	known	74_37	rna	54	137	23.94	18.93	17	32	SNP	0.116	A
BIRC3	330	genome.wustl.edu	37	11	102198822	102198822	+	Silent	SNP	C	C	A			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr11:102198822C>A	ENST00000263464.3	+	4	3743	c.993C>A	c.(991-993)atC>atA	p.I331I	BIRC3_ENST00000532808.1_Silent_p.I331I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	331					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGGAGTTCATCCGTCAAGTTC	0.318			T	MALT1	MALT																																		0		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													96.0	94.0	94.0					11																	102198822		2203	4299	6502	SO:0001819	synonymous_variant	0			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.993C>A	11.37:g.102198822C>A			Q16628|Q9HC27|Q9UP46	Silent	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.I331	ENST00000263464.3	37	c.993	CCDS8315.1	11																																																																																			0	NULL		0.318	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	protein_coding	OTTHUMT00000394159.1	76	356	0	0.00	0	0	C	NM_001165	0	0		102198822	1	no_errors	ENST00000263464	ensembl	human	known	74_37	silent	37	200	33.93	25.93	19	70	SNP	0.002	A
KHNYN	23351	genome.wustl.edu	37	14	24901148	24901148	+	Silent	SNP	C	C	G	rs117296295	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr14:24901148C>G	ENST00000251343.5	+	3	820	c.681C>G	c.(679-681)ccC>ccG	p.P227P	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Silent_p.P227P|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Silent_p.P227P			O15037	KHNYN_HUMAN	KH and NYN domain containing	227							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGAGAGCTCCCCCTAGTGACG	0.637											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													62.0	64.0	63.0					14																	24901148		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.681C>G	14.37:g.24901148C>G		774	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	pfam_RNase_Zc3h12	p.P227	ENST00000251343.5	37	c.681	CCDS32058.1	14																																																																																			0	NULL		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	protein_coding	OTTHUMT00000412928.1	30	149	0	0.00	0	0	C		0	0		24901148	1	no_errors	ENST00000251343	ensembl	human	known	74_37	silent	17	88	22.73	20.72	5	23	SNP	0.001	G
CD276	80381	genome.wustl.edu	37	15	73994736	73994736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr15:73994736C>T	ENST00000318443.5	+	3	522	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	CD276_ENST00000561213.1_Nonsense_Mutation_p.Q74*|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000564751.1_Nonsense_Mutation_p.Q74*|CD276_ENST00000318424.5_Nonsense_Mutation_p.Q74*	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	74	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						AGATACCAAACAGCTGGTGCA	0.637																																							0											0													53.0	46.0	48.0					15																	73994736		2198	4297	6495	SO:0001587	stop_gained	0			AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.220C>T	15.37:g.73994736C>T	ENSP00000320084:p.Gln74*		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Q74*	ENST00000318443.5	37	c.220	CCDS32288.1	15	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417746	0.42918	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	.	.	.	2.84	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-16.7484	14.4394	0.67306	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000320058:Q74X	Q	+	1	0	CD276	71781789	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	2.616000	0.46376	1.888000	0.54679	0.313000	0.20887	CAG	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.637	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD276	protein_coding	OTTHUMT00000268979.1	24	16	0	0.00	0	0	C	NM_025240	0	0		73994736	1	no_errors	ENST00000318443	ensembl	human	known	74_37	nonsense	18	12	33.33	14.29	9	2	SNP	1	T
CHD9	80205	genome.wustl.edu	37	16	53260382	53260382	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr16:53260382T>G	ENST00000398510.3	+	4	2088	c.2001T>G	c.(1999-2001)aaT>aaG	p.N667K	CHD9_ENST00000566029.1_Missense_Mutation_p.N667K|CHD9_ENST00000564845.1_Missense_Mutation_p.N667K|CHD9_ENST00000447540.1_Missense_Mutation_p.N667K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	667					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAAAAAAGAATTCAGCTCCTT	0.313																																							0											0													100.0	104.0	103.0					16																	53260382		1808	4069	5877	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2001T>G	16.37:g.53260382T>G	ENSP00000381522:p.Asn667Lys		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N667K	ENST00000398510.3	37	c.2001		16	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708398	0.30322	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.63913	-0.07;-0.07	5.39	-0.834	0.10779	.	0.412136	0.22565	N	0.058409	T	0.45337	0.1337	L	0.36672	1.1	0.37553	D	0.918776	B;B;B;B	0.28378	0.0;0.209;0.008;0.013	B;B;B;B	0.34536	0.001;0.185;0.007;0.017	T	0.36504	-0.9745	10	0.06625	T	0.88	-8.4652	9.8109	0.40822	0.0:0.3643:0.0:0.6357	.	193;667;667;667	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	667;667;193	ENSP00000396345:N667K;ENSP00000381522:N667K	ENSP00000219084:N193K	N	+	3	2	CHD9	51817883	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	0.487000	0.22356	-0.191000	0.10448	0.533000	0.62120	AAT	0	NULL		0.313	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	140	268	0	0.00	0	0	T	NM_025134	0	0		53260382	1	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	67	161	25.56	27.23	23	61	SNP	0.977	G
ACOX1	51	genome.wustl.edu	37	17	73947523	73947523	+	Silent	SNP	A	A	C			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr17:73947523A>C	ENST00000301608.4	-	8	1140	c.1080T>G	c.(1078-1080)ggT>ggG	p.G360G	ACOX1_ENST00000293217.5_Silent_p.G360G|ACOX1_ENST00000537812.1_Silent_p.G322G	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	360					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GGTCCCCTTGACCAATGCCTT	0.507																																							0											0													157.0	138.0	144.0					17																	73947523		2203	4300	6503	SO:0001819	synonymous_variant	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1080T>G	17.37:g.73947523A>C			A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.G360	ENST00000301608.4	37	c.1080	CCDS11735.1	17																																																																																			0	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.507	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	protein_coding	OTTHUMT00000439503.1	76	223	0	0.00	0	0	A		0	0		73947523	-1	no_errors	ENST00000293217	ensembl	human	known	74_37	silent	33	157	10.81	19.07	4	37	SNP	0.429	C
PIK3C3	5289	genome.wustl.edu	37	18	39575930	39575930	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr18:39575930C>A	ENST00000262039.4	+	8	949	c.863C>A	c.(862-864)cCc>cAc	p.P288H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P225H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	288	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GATCTGAAACCCAATGCTGCC	0.353										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)		0											0													54.0	54.0	54.0					18																	39575930		2203	4299	6502	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.863C>A	18.37:g.39575930C>A	ENSP00000262039:p.Pro288His		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.P288H	ENST00000262039.4	37	c.863	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877235	0.91664	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.67171	-0.25;-0.25	5.45	5.45	0.79879	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89115	0.3499	9	.	.	.	.	19.6374	0.95740	0.0:1.0:0.0:0.0	.	225;288	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	288;225	ENSP00000262039:P288H;ENSP00000381845:P225H	.	P	+	2	0	PIK3C3	37829928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.752000	0.85141	2.711000	0.92665	0.563000	0.77884	CCC	0	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34		0.353	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	protein_coding	OTTHUMT00000255804.1	237	247	0	0.80	0	2	C	NM_002647	0	0		39575930	1	no_errors	ENST00000262039	ensembl	human	known	74_37	missense	105	101	28.57	28.37	42	40	SNP	1	A
TTI1	9675	genome.wustl.edu	37	20	36642126	36642126	+	Silent	SNP	C	C	T			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr20:36642126C>T	ENST00000373448.2	-	3	331	c.93G>A	c.(91-93)gaG>gaA	p.E31E	TTI1_ENST00000373447.3_Silent_p.E31E|TTI1_ENST00000449821.1_Silent_p.E31E|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	31					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCTGCAGATGCTCCACATTCT	0.517																																							0											0													142.0	119.0	127.0					20																	36642126		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.93G>A	20.37:g.36642126C>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E31	ENST00000373448.2	37	c.93	CCDS13300.1	20																																																																																			0	superfamily_ARM-type_fold,pirsf_UCP005250		0.517	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	54	160	0	0.62	0	1	C	NM_014657	0	0		36642126	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	23	104	14.81	26.76	4	38	SNP	0.015	T
SSTR3	6753	genome.wustl.edu	37	22	37602854	37602854	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr22:37602854C>T	ENST00000328544.3	-	2	1522	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.R330Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	330					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCGGGAGGGCCGCAGCAGGAC	0.662																																							0											0													34.0	38.0	37.0					22																	37602854		2203	4299	6502	SO:0001583	missense	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.989G>A	22.37:g.37602854C>T	ENSP00000330138:p.Arg330Gln		A8K550|Q53ZR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.R330Q	ENST00000328544.3	37	c.989	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.189816	0.94923	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.39056	1.1;1.1	5.29	5.29	0.74685	.	0.078368	0.48286	D	0.000191	T	0.62478	0.2431	M	0.70275	2.135	0.52501	D	0.999952	D	0.89917	1.0	D	0.64776	0.929	T	0.58584	-0.7611	10	0.27785	T	0.31	.	18.9408	0.92604	0.0:1.0:0.0:0.0	.	330	P32745	SSR3_HUMAN	Q	330	ENSP00000330138:R330Q;ENSP00000384904:R330Q	ENSP00000330138:R330Q	R	-	2	0	SSTR3	35932800	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.797000	0.85911	2.460000	0.83146	0.563000	0.77884	CGG	0	prints_Somatstn_rcpt_3		0.662	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	protein_coding	OTTHUMT00000318802.1	99	46	0.99	0.00	1	0	C		0	0		37602854	-1	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	67	24	23.86	29.41	21	10	SNP	1	T
PLCXD2	257068	genome.wustl.edu	37	3	111394132	111394148	+	Frame_Shift_Del	DEL	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	-	rs533950425		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	-	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr3:111394132_111394148delGGGACCATCTGCTCCCC	ENST00000477665.1	+	1	364_380	c.40_56delGGGACCATCTGCTCCCC	c.(40-57)gggaccatctgctcccccfs	p.GTICSP14fs	PLCXD2_ENST00000393934.3_Frame_Shift_Del_p.GTICSP14fs|PLCXD2-AS1_ENST00000493131.1_RNA	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	14					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACTCAGGATGGGGACCATCTGCTCCCCCAACCCCAGC	0.571																																							0											0																																										SO:0001589	frameshift_variant	0			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.40_56delGGGACCATCTGCTCCCC	3.37:g.111394132_111394148delGGGACCATCTGCTCCCC	ENSP00000420686:p.Gly14fs		Q96N12	Frame_Shift_Del	DEL	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.G14fs	ENST00000477665.1	37	c.40_56	CCDS54619.1	3																																																																																			0	NULL		0.571	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	protein_coding	OTTHUMT00000354322.1	48	163	0	0.00	0	0	GGGACCATCTGCTCCCC	NM_153268	0	0		111394148	1	no_errors	ENST00000477665	ensembl	human	known	74_37	frame_shift_del	26	112	10.34	7.44	3	9	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0
RB1CC1	9821	genome.wustl.edu	37	8	53569316	53569328	+	Frame_Shift_Del	DEL	TTATTTGTTGGTT	TTATTTGTTGGTT	-	rs567084030	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	TTATTTGTTGGTT	TTATTTGTTGGTT	TTATTTGTTGGTT	-	TTATTTGTTGGTT	TTATTTGTTGGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr8:53569316_53569328delTTATTTGTTGGTT	ENST00000025008.5	-	15	3584_3596	c.3061_3073delAACCAACAAATAA	c.(3061-3075)aaccaacaaataattfs	p.NQQII1021fs	RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.NQQII1021fs|RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.NQQII1021fs|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1021					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTGATTAATTATTTGTTGGTTTTCCTTTTTT	0.343																																					GBM(180;1701 2102 13475 42023 52570)		0											0																																										SO:0001589	frameshift_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3061_3073delAACCAACAAATAA	8.37:g.53569316_53569328delTTATTTGTTGGTT	ENSP00000025008:p.Asn1021fs		Q86YR4|Q8WVU9|Q92601	Frame_Shift_Del	DEL	pfam_Autophagy-rel_p11	p.N1021fs	ENST00000025008.5	37	c.3073_3061	CCDS34892.1	8																																																																																			0	NULL		0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	protein_coding	OTTHUMT00000378011.1	70	322	0	0.00	0	0	TTATTTGTTGGTT	NM_014781	0	0		53569328	-1	no_errors	ENST00000025008	ensembl	human	known	74_37	frame_shift_del	33	231	10.81	4.94	4	12	DEL	0.619:0.615:0.253:0.273:0.212:0.281:0.278:0.063:0.248:0.309:0.344:0.977:1.000	0
MT-ND2	4536	genome.wustl.edu	37	M	2258	2258	+	5'Flank	SNP	A	A	C			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chrM:2258A>C	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ACTGAACTCCTCACACCCAAT	0.393																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2258A>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.393	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		24	0	0	0.00	0	0	A	YP_003024027	0	0		2258	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	174	7	10.71	0.00	21	0	SNP	NULL	C
FOXD4L3	286380	genome.wustl.edu	37	9	70918627	70918627	+	Missense_Mutation	SNP	G	G	C	rs201219160	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr9:70918627G>C	ENST00000342833.2	+	1	1352	c.760G>C	c.(760-762)Gcc>Ccc	p.A254P		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	254						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCCCAACACCGCCCCCGGGAG	0.706																																							0											0													1.0	1.0	1.0					9																	70918627		120	271	391	SO:0001583	missense	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.760G>C	9.37:g.70918627G>C	ENSP00000341961:p.Ala254Pro		Q5JTX9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A254P	ENST00000342833.2	37	c.760	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	9.333	1.061000	0.19987	.	.	ENSG00000187559	ENST00000342833	D	0.94687	-3.49	3.09	-0.107	0.13592	.	.	.	.	.	D	0.85932	0.5812	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.12837	0.008	T	0.72947	-0.4137	9	0.30078	T	0.28	.	3.3774	0.07242	0.2809:0.2329:0.4862:0.0	.	254	Q6VB84	FX4L3_HUMAN	P	254	ENSP00000341961:A254P	ENSP00000341961:A254P	A	+	1	0	FOXD4L3	70108447	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-2.773000	0.00778	-0.143000	0.11334	0.455000	0.32223	GCC	0	NULL		0.706	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	protein_coding	OTTHUMT00000052539.2	64	0	0	0.00	0	0	G	NM_199358	rs201219160	G->C		70918627	1	no_errors	ENST00000342833	ensembl	human	known	74_37	missense	67	0	16.25	0.00	13	0	SNP	0.001	C
FOXD4L3	286380	genome.wustl.edu	37	9	70918632	70918632	+	Silent	SNP	C	C	G	rs201851681	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr9:70918632C>G	ENST00000342833.2	+	1	1357	c.765C>G	c.(763-765)ccC>ccG	p.P255P		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	255						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ACACCGCCCCCGGGAGACGCC	0.721																																							0											0													1.0	1.0	1.0					9																	70918632		92	206	298	SO:0001819	synonymous_variant	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.765C>G	9.37:g.70918632C>G			Q5JTX9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P255	ENST00000342833.2	37	c.765	CCDS43833.1	9																																																																																			0	NULL		0.721	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	protein_coding	OTTHUMT00000052539.2	59	0	0	0.00	0	0	C	NM_199358	rs201851681	C->G		70918632	1	no_errors	ENST00000342833	ensembl	human	known	74_37	silent	63	0	16	0.00	12	0	SNP	0.004	G
NR2C2	7182	genome.wustl.edu	37	3	14987109	14987110	+	5'Flank	INS	-	-	T			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr3:14987109_14987110insT	ENST00000425241.1	+	0	0				FGD5-AS1_ENST00000440079.1_RNA|NR2C2_ENST00000323373.6_5'Flank|FGD5-AS1_ENST00000424349.1_RNA|FGD5-AS1_ENST00000426200.1_RNA|FGD5-AS1_ENST00000430166.1_RNA|FGD5-AS1_ENST00000417835.1_RNA			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2						cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						tgaccatgaccttttttttggt	0.436																																							0											0																																										SO:0001631	upstream_gene_variant	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839		3.37:g.14987117_14987117dupT	Exception_encountered		A8K3H5|B6ZGT8|P55092	RNA	INS	0	NULL	ENST00000425241.1	37	NULL		3																																																																																			0	0		0.436	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	FGD5-AS1	protein_coding	OTTHUMT00000340729.1	8	0	0	0.00	0	0	0	NM_003298	0	0		14987110	-1	no_errors	ENST00000417835	ensembl	human	known	74_37	rna	4	0	33.33	0.00	2	0	INS	0.499:0.511	T
