#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAM29	11086	genome.wustl.edu	37	4	175897839	175897839	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr4:175897839C>G	ENST00000359240.3	+	5	1833	c.1163C>G	c.(1162-1164)aCa>aGa	p.T388R	ADAM29_ENST00000514159.1_Missense_Mutation_p.T388R|ADAM29_ENST00000404450.4_Missense_Mutation_p.T388R|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.T388R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	388	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTGCTTGAAACAGTACACACA	0.383																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											0													200.0	194.0	196.0					4																	175897839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1163C>G	4.37:g.175897839C>G	ENSP00000352177:p.Thr388Arg		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T388R	ENST00000359240.3	37	c.1163	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	C	2.921	-0.223224	0.06061	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01821	4.62;4.62;4.62;4.62	3.6	-7.2	0.01495	Peptidase M12B, ADAM/reprolysin (1);	2.290620	0.03150	U	0.167789	T	0.01189	0.0039	N	0.04787	-0.16	0.09310	N	1	B	0.31077	0.307	B	0.34242	0.178	T	0.39461	-0.9613	9	.	.	.	.	10.6435	0.45606	0.3853:0.5278:0.0:0.0869	.	388	Q9UKF5	ADA29_HUMAN	R	388	ENSP00000352177:T388R;ENSP00000414544:T388R;ENSP00000384229:T388R;ENSP00000423517:T388R	.	T	+	2	0	ADAM29	176134414	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.732000	0.04904	-1.835000	0.01191	-0.366000	0.07423	ACA	ADAM29	-	pfscan_Peptidase_M12B	ENSG00000168594		0.383	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		81	0.00	0	C			175897839	175897839	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	missense	41	38.81	26	SNP	0.000	G
ASIC1	41	genome.wustl.edu	37	12	50452677	50452677	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr12:50452677G>A	ENST00000447966.2	+	2	357	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	ASIC1_ENST00000228468.4_Missense_Mutation_p.R43Q	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	43					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TCTCTGAAGCGGGCACTGTGG	0.637																																						dbGAP											0													108.0	92.0	97.0					12																	50452677		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.128G>A	12.37:g.50452677G>A	ENSP00000400228:p.Arg43Gln		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.R43Q	ENST00000447966.2	37	c.128	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656407	0.67586	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.70749	-0.51;-0.51	4.59	4.59	0.56863	.	0.205199	0.40144	N	0.001163	T	0.65186	0.2667	M	0.74389	2.26	0.80722	D	1	P;P	0.42735	0.788;0.774	B;B	0.34346	0.12;0.18	T	0.68845	-0.5301	10	0.40728	T	0.16	-17.719	11.0167	0.47693	0.088:0.0:0.912:0.0	.	43;43	P78348;P78348-1	ACCN2_HUMAN;.	Q	43	ENSP00000228468:R43Q;ENSP00000400228:R43Q	ENSP00000228468:R43Q	R	+	2	0	ACCN2	48738944	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.834000	0.75339	2.286000	0.76751	0.462000	0.41574	CGG	ASIC1	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000110881		0.637	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	36	0.00	0	G	NM_020039		50452677	50452677	+1	no_errors	ENST00000228468	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	A
CASP8	841	genome.wustl.edu	37	2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr2:202141586C>T	ENST00000432109.2	+	8	886	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CASP8_ENST00000358485.4_Missense_Mutation_p.R292W|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000392258.3_Missense_Mutation_p.S211L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													79.0	76.0	77.0					2																	202141586		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.697C>T	2.37:g.202141586C>T	ENSP00000412523:p.Arg233Trp		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R292W	ENST00000432109.2	37	c.874	CCDS2342.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120327|3.120327	0.56613|0.56613	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000447616;ENST00000424461	D;D;D;D;D;D|.	0.84223|.	-1.53;-1.53;-1.82;-1.82;-1.53;-1.53|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase C14, caspase precursor p45, core (2);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	0.194920|.	0.44097|.	D|.	0.000497|.	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.24514|0.24514	N|N	0.994191|0.994191	D;D;D;D;D;D|D;P	0.89917|0.62365	1.0;1.0;1.0;1.0;1.0;1.0|0.991;0.931	D;D;D;D;D;D|P;B	0.91635|0.45753	0.994;0.987;0.997;0.998;0.999;0.997|0.492;0.356	T|T	0.10428|0.10428	-1.0630|-1.0630	10|8	0.66056|0.33141	D|T	0.02|0.24	.|.	12.1349|12.1349	0.53966|0.53966	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	233;218;292;233;218;250|196;211	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4|Q14790-6;Q14790-5	.;.;.;CASP8_HUMAN;.;.|.;.	W|L	218;233;250;115;292;218;218|211;196;211;196;59	ENSP00000376091:R218W;ENSP00000412523:R233W;ENSP00000264275:R250W;ENSP00000391709:R115W;ENSP00000351273:R292W;ENSP00000325722:R218W|.	ENSP00000264275:R250W|ENSP00000376087:S211L	R|S	+|+	1|2	2|0	CASP8|CASP8	201849831|201849831	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.328000|0.328000	0.28507|0.28507	1.051000|1.051000	0.30417|0.30417	2.624000|2.624000	0.88883|0.88883	0.561000|0.561000	0.74099|0.74099	CGG|TCG	CASP8	-	superfamily_DEATH-like,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	ENSG00000064012		0.428	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	46	0.00	0	C	NM_001228		202141586	202141586	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	1.000	T
DRC7	84229	genome.wustl.edu	37	16	57760065	57760065	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr16:57760065G>A	ENST00000360716.3	+	14	2065	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H			Q8IY82	CC135_HUMAN		615					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGAGGAGCGCATCCAGCTG	0.632																																						dbGAP											0													61.0	53.0	56.0					16																	57760065		2198	4300	6498	-	-	-	SO:0001583	missense	0																														ENST00000360716.3:c.1844G>A	16.37:g.57760065G>A	ENSP00000353942:p.Arg615His		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.R615H	ENST00000360716.3	37	c.1844	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	g	18.56	3.650959	0.67472	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10763	3.0;2.84;3.0	4.87	3.92	0.45320	.	0.178139	0.42682	D	0.000671	T	0.30479	0.0766	M	0.80847	2.515	0.32648	N	0.519777	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.43310	-0.9399	10	0.59425	D	0.04	-28.8677	8.1322	0.31033	0.0847:0.0:0.7591:0.1562	.	550;615	Q8IY82-2;Q8IY82	.;CC135_HUMAN	H	615;550;615	ENSP00000377869:R615H;ENSP00000338938:R550H;ENSP00000353942:R615H	ENSP00000338938:R550H	R	+	2	0	CCDC135	56317566	0.999000	0.42202	1.000000	0.80357	0.784000	0.44337	2.094000	0.41719	1.064000	0.40671	-0.119000	0.15052	CGC	CCDC135	-	NULL	ENSG00000159625		0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	19	0.00	0	G			57760065	57760065	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	1.000	A
CLEC10A	10462	genome.wustl.edu	37	17	6979420	6979420	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr17:6979420C>G	ENST00000254868.4	-	6	732	c.404G>C	c.(403-405)tGt>tCt	p.C135S	CLEC10A_ENST00000576617.1_Intron|CLEC10A_ENST00000416562.2_Intron|CLEC10A_ENST00000571664.1_Intron	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	135					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCAGTGGGGACAGTGGCCTAG	0.597																																						dbGAP											0													77.0	67.0	70.0					17																	6979420		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.404G>C	17.37:g.6979420C>G	ENSP00000254868:p.Cys135Ser		A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.C135S	ENST00000254868.4	37	c.404	CCDS11087.1	17	.	.	.	.	.	.	.	.	.	.	C	2.688	-0.273821	0.05679	.	.	ENSG00000132514	ENST00000254868	T	0.02552	4.25	3.63	-5.0	0.03001	.	2.273390	0.01908	N	0.039618	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44528	-0.9322	10	0.19147	T	0.46	.	0.9725	0.01419	0.1466:0.2:0.2901:0.3633	.	135	Q8IUN9	CLC10_HUMAN	S	135	ENSP00000254868:C135S	ENSP00000254868:C135S	C	-	2	0	CLEC10A	6920144	.	.	0.000000	0.03702	0.012000	0.07955	.	.	-1.012000	0.03387	-0.218000	0.12543	TGT	CLEC10A	-	NULL	ENSG00000132514		0.597	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	CLEC10A	HGNC	protein_coding	OTTHUMT00000439837.2	29	0.00	0	C	NM_006344		6979420	6979420	-1	no_errors	ENST00000254868	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.000	G
CNTN3	5067	genome.wustl.edu	37	3	74315673	74315673	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr3:74315673delT	ENST00000263665.6	-	21	2972	c.2945delA	c.(2944-2946)gatfs	p.D982fs	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGGTCCCATCCCCTCCATC	0.408																																						dbGAP											0													349.0	320.0	330.0					3																	74315673		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2945delA	3.37:g.74315673delT	ENSP00000263665:p.Asp982fs		B9EK50|Q9H039	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D982fs	ENST00000263665.6	37	c.2945	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.408	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	95	0.00	0	T	NM_020872		74315673	74315673	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	frame_shift_del	78	24.53	26	DEL	1.000	-
EYA3	2140	genome.wustl.edu	37	1	28304975	28304975	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr1:28304975G>C	ENST00000373871.3	-	17	1791	c.1551C>G	c.(1549-1551)agC>agG	p.S517R	EYA3_ENST00000540618.1_Missense_Mutation_p.S471R|EYA3_ENST00000373864.1_Missense_Mutation_p.S360R|EYA3_ENST00000545175.1_Missense_Mutation_p.S464R|EYA3_ENST00000373863.3_Missense_Mutation_p.S471R|EYA3_ENST00000436342.2_Missense_Mutation_p.S391R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	517					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TCTCAAAGCAGCTCTCCTTAC	0.418																																						dbGAP											0													169.0	160.0	163.0					1																	28304975		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1551C>G	1.37:g.28304975G>C	ENSP00000362978:p.Ser517Arg		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.S517R	ENST00000373871.3	37	c.1551	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855712	0.71834	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.63	2.75	0.32379	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.93229	0.7843	M	0.66439	2.03	0.80722	D	1	B;D;D	0.89917	0.002;1.0;1.0	B;D;D	0.85130	0.001;0.996;0.997	D	0.91353	0.5106	10	0.62326	D	0.03	-19.5854	8.3383	0.32228	0.1252:0.0:0.7477:0.127	.	471;471;517	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	R	517;391;360;471;464;471	ENSP00000362978:S517R;ENSP00000405587:S391R;ENSP00000362971:S360R;ENSP00000442558:S471R;ENSP00000442280:S464R;ENSP00000362970:S471R	ENSP00000362970:S471R	S	-	3	2	EYA3	28177562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.276000	0.72601	0.325000	0.23359	0.561000	0.74099	AGC	EYA3	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000158161		0.418	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	83	0.00	0	G	NM_001990		28304975	28304975	-1	no_errors	ENST00000373871	ensembl	human	known	69_37n	missense	88	20.72	23	SNP	1.000	C
DHCR24	1718	genome.wustl.edu	37	1	55331049	55331049	+	Missense_Mutation	SNP	C	C	T	rs577722198		TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr1:55331049C>T	ENST00000371269.3	-	6	1045	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	DHCR24_ENST00000537443.1_Intron|DHCR24_ENST00000535035.1_Missense_Mutation_p.R275Q	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	316					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAGGCCCTCTCGGTTTGTCTT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20108	0.001		0.0	False		,,,				2504	0.0				Pancreas(39;516 1021 24601 30715 32780)	dbGAP											0													168.0	132.0	144.0					1																	55331049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.947G>A	1.37:g.55331049C>T	ENSP00000360316:p.Arg316Gln		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.R316Q	ENST00000371269.3	37	c.947	CCDS600.1	1	.	.	.	.	.	.	.	.	.	.	C	7.742	0.701520	0.15172	.	.	ENSG00000116133	ENST00000371269;ENST00000535035	D;D	0.92647	-3.07;-3.08	5.07	-2.72	0.05968	.	0.779501	0.12222	N	0.488261	T	0.76535	0.4001	N	0.04203	-0.255	0.28780	N	0.899898	B;B	0.15473	0.013;0.001	B;B	0.04013	0.001;0.0	T	0.64635	-0.6361	10	0.08381	T	0.77	-0.281	9.5315	0.39196	0.0:0.3508:0.0947:0.5545	.	275;316	B7Z817;Q15392	.;DHC24_HUMAN	Q	316;275	ENSP00000360316:R316Q;ENSP00000440191:R275Q	ENSP00000360316:R316Q	R	-	2	0	DHCR24	55103637	0.000000	0.05858	0.007000	0.13788	0.882000	0.50991	-1.651000	0.01989	-0.710000	0.05001	-0.812000	0.03155	CGA	DHCR24	-	NULL	ENSG00000116133		0.512	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	61	0.00	0	C	NM_014762		55331049	55331049	-1	no_errors	ENST00000371269	ensembl	human	known	69_37n	missense	42	33.33	21	SNP	0.001	T
F13A1	2162	genome.wustl.edu	37	6	6182361	6182361	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr6:6182361A>T	ENST00000264870.3	-	11	1584	c.1319T>A	c.(1318-1320)cTc>cAc	p.L440H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	440					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AATGTAAATGAGGTCGCTGTT	0.443																																						dbGAP											0													114.0	103.0	107.0					6																	6182361		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1319T>A	6.37:g.6182361A>T	ENSP00000264870:p.Leu440His		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L440H	ENST00000264870.3	37	c.1319	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288743	0.59976	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.79940	-1.32	5.15	5.15	0.70609	.	0.444384	0.24447	N	0.038451	D	0.82323	0.5012	L	0.55990	1.75	0.09310	N	0.999998	D;D	0.76494	0.994;0.999	P;D	0.68943	0.8;0.961	T	0.77213	-0.2670	10	0.66056	D	0.02	.	14.4606	0.67445	1.0:0.0:0.0:0.0	.	377;440	F5H080;P00488	.;F13A_HUMAN	H	440;377	ENSP00000264870:L440H	ENSP00000264870:L440H	L	-	2	0	F13A1	6127360	0.990000	0.36364	0.117000	0.21633	0.831000	0.47069	6.508000	0.73721	2.072000	0.62099	0.533000	0.62120	CTC	F13A1	-	NULL	ENSG00000124491		0.443	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	67	0.00	0	A	NM_000129		6182361	6182361	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	0.125	T
FAM120A	23196	genome.wustl.edu	37	9	96294650	96294650	+	Intron	SNP	A	A	G			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr9:96294650A>G	ENST00000277165.6	+	10	2103				FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000333936.5_Intron|FAM120A_ENST00000340893.4_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTCCTCGGTACCTCGTAATC	0.443																																						dbGAP											0													56.0	52.0	54.0					9																	96294650		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1909+39A>G	9.37:g.96294650A>G			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	NULL	p.V492	ENST00000277165.6	37	c.1476	CCDS6706.1	9																																																																																			FAM120A	-	NULL	ENSG00000048828		0.443	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	13	0.00	0	A	NM_014612		96294650	96294650	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446420	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	1.000	G
HDDC2	51020	genome.wustl.edu	37	6	125598270	125598270	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr6:125598270T>A	ENST00000398153.2	-	5	537	c.495A>T	c.(493-495)caA>caT	p.Q165H	HDDC2_ENST00000608456.1_5'Flank|HDDC2_ENST00000368377.4_Missense_Mutation_p.Q131H|HDDC2_ENST00000608295.1_3'UTR	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	165						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		CATAGAAGTCTTGCAGTCTCC	0.393																																						dbGAP											0													176.0	161.0	166.0					6																	125598270		1878	4126	6004	-	-	-	SO:0001583	missense	0			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.495A>T	6.37:g.125598270T>A	ENSP00000381220:p.Gln165His		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	pfam_HD_domain,smart_HD/PDEase_dom	p.Q165H	ENST00000398153.2	37	c.495	CCDS43503.1	6	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607655	0.66558	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.44881	0.91;0.91;0.91	5.97	-4.23	0.03789	HD domain (1);	0.049501	0.85682	N	0.000000	T	0.37892	0.1020	M	0.75884	2.315	0.58432	D	0.999998	P	0.43094	0.799	P	0.46917	0.531	T	0.58171	-0.7683	10	0.87932	D	0	.	19.3095	0.94179	0.0:0.7849:0.0:0.2151	.	165	Q7Z4H3	HDDC2_HUMAN	H	131;165;131	ENSP00000316242:Q131H;ENSP00000381220:Q165H;ENSP00000357361:Q131H	ENSP00000316242:Q131H	Q	-	3	2	HDDC2	125639969	0.996000	0.38824	0.920000	0.36463	0.600000	0.36913	0.350000	0.20079	-0.948000	0.03668	-0.290000	0.09829	CAA	HDDC2	-	NULL	ENSG00000111906		0.393	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	78	0.00	0	T	NM_016063		125598270	125598270	-1	no_errors	ENST00000398153	ensembl	human	known	69_37n	missense	61	35.79	34	SNP	0.980	A
MAP3K1	4214	genome.wustl.edu	37	5	56161678	56161678	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr5:56161678A>G	ENST00000399503.3	+	6	1175	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	392					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCCAGAAATATCACAGTAGG	0.363																																						dbGAP											0													121.0	115.0	117.0					5																	56161678		1878	4112	5990	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1175A>G	5.37:g.56161678A>G	ENSP00000382423:p.Tyr392Cys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.Y392C	ENST00000399503.3	37	c.1175	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522655	0.85600	.	.	ENSG00000095015	ENST00000399503	T	0.69561	-0.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78216	-0.2290	10	0.87932	D	0	.	15.8206	0.78638	1.0:0.0:0.0:0.0	.	392	Q13233	M3K1_HUMAN	C	392	ENSP00000382423:Y392C	ENSP00000382423:Y392C	Y	+	2	0	MAP3K1	56197435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.139000	0.66308	0.528000	0.53228	TAT	MAP3K1	-	NULL	ENSG00000095015		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	51	0.00	0	A	XM_042066		56161678	56161678	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	41	34.92	22	SNP	1.000	G
MDFIC	29969	genome.wustl.edu	37	7	114619630	114619631	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr7:114619630_114619631insA	ENST00000393486.1	+	4	877_878	c.287_288insA	c.(286-291)ataaagfs	p.IK96fs	MDFIC_ENST00000257724.3_Frame_Shift_Ins_p.IK205fs	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						ATAGGCAAGATAAAGAACGGCC	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.290dupA	7.37:g.114619633_114619633dupA	ENSP00000377126:p.Ile96fs			Frame_Shift_Ins	INS	NULL	p.N98fs	ENST00000393486.1	37	c.287_288	CCDS55155.1	7																																																																																			MDFIC	-	NULL	ENSG00000135272		0.485	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4	39	0.00	0	-	NM_199072		114619630	114619631	+1	no_errors	ENST00000393486	ensembl	human	known	69_37n	frame_shift_ins	38	24.00	12	INS	1.000:1.000	A
MED12	9968	genome.wustl.edu	37	X	70356283	70356284	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chrX:70356283_70356284insCA	ENST00000374080.3	+	37	5210_5211	c.5178_5179insCA	c.(5179-5181)cacfs	p.H1727fs	MED12_ENST00000333646.6_Frame_Shift_Ins_p.H1727fs|MED12_ENST00000374102.1_Frame_Shift_Ins_p.H1727fs			Q93074	MED12_HUMAN	mediator complex subunit 12	1727	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGCTGCTCTACCACACACACCT	0.644			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0																																										-	-	-	SO:0001589	frameshift_variant	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5185_5186dupCA	X.37:g.70356290_70356291dupCA	ENSP00000363193:p.His1727fs		O15410|O75557|Q9UHV6|Q9UND7	Frame_Shift_Ins	INS	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.L1729fs	ENST00000374080.3	37	c.5178_5179	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.644	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	21	0.00	0	-	NM_005120		70356283	70356284	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	frame_shift_ins	30	18.92	7	INS	1.000:1.000	CA
MUC4	4585	genome.wustl.edu	37	3	195506775	195506775	+	Silent	SNP	G	G	A	rs79609066	byFrequency	TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr3:195506775G>A	ENST00000463781.3	-	2	12135	c.11676C>T	c.(11674-11676)acC>acT	p.T3892T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T3892T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3892T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.592													.|||	23	0.00459265	0.0	0.0014	5008	,	,		8217	0.0		0.0	False		,,,				2504	0.0225					dbGAP											1	Substitution - coding silent(1)	kidney(1)											11.0	9.0	10.0					3																	195506775		565	1303	1868	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11676C>T	3.37:g.195506775G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T3892	ENST00000463781.3	37	c.11676	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	30	0.00	0	G	NM_018406		195506775	195506775	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	56	18.84	13	SNP	0.996	A
PRB2	653247	genome.wustl.edu	37	12	11546742	11546742	+	Silent	SNP	T	T	C	rs201044388	byFrequency	TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr12:11546742T>C	ENST00000389362.4	-	3	305	c.270A>G	c.(268-270)caA>caG	p.Q90Q	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	90	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTGGGGGACCTTGAGGTTTGT	0.617																																						dbGAP											0													150.0	171.0	164.0					12																	11546742		2136	4199	6335	-	-	-	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.270A>G	12.37:g.11546742T>C			O00599|P02811|P04281	Silent	SNP	NULL	p.Q90	ENST00000389362.4	37	c.270	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	15	0.00	0	T	NM_006248		11546742	11546742	-1	no_errors	ENST00000389362	ensembl	human	known	69_37n	silent	73	21.28	20	SNP	0.238	C
SRRT	51593	genome.wustl.edu	37	7	100485396	100485396	+	Missense_Mutation	SNP	G	G	A	rs199528372		TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr7:100485396G>A	ENST00000347433.4	+	17	2400	c.2242G>A	c.(2242-2244)Gcg>Acg	p.A748T	SRRT_ENST00000457580.2_Missense_Mutation_p.A748T|SRRT_ENST00000388793.4_Missense_Mutation_p.A747T|SRRT_ENST00000432932.1_Missense_Mutation_p.A747T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	748					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAAGGAAGTCGCGTTTTTTAA	0.517																																						dbGAP											0													104.0	111.0	108.0					7																	100485396		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2242G>A	7.37:g.100485396G>A	ENSP00000314491:p.Ala748Thr		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.A747T	ENST00000347433.4	37	c.2239	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474671	0.26511	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764;ENST00000445337	.	.	.	4.64	4.64	0.57946	Arsenite-resistance protein 2 (1);	0.175706	0.48286	D	0.000184	T	0.34978	0.0916	N	0.26042	0.785	0.41583	D	0.988757	B;B;B;B	0.33494	0.168;0.414;0.259;0.304	B;B;B;B	0.23150	0.011;0.044;0.024;0.041	T	0.19128	-1.0315	9	0.15066	T	0.55	.	15.3595	0.74460	0.0:0.0:1.0:0.0	.	747;747;748;748	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	748;747;113;747;748;378;25	.	ENSP00000344670:A113T	A	+	1	0	SRRT	100323332	0.900000	0.30661	0.484000	0.27391	0.444000	0.32077	1.656000	0.37355	2.566000	0.86566	0.313000	0.20887	GCG	SRRT	-	pfam_Arsenite-R_2	ENSG00000087087		0.517	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	31	0.00	0	G	NM_015908		100485396	100485396	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	0.968	A
TAT	6898	genome.wustl.edu	37	16	71603760	71603761	+	Frame_Shift_Ins	INS	-	-	AGGT			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr16:71603760_71603761insAGGT	ENST00000355962.4	-	10	1254_1255	c.1121_1122insACCT	c.(1120-1122)ctcfs	p.-374fs	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase						2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TACTCACCATGAGGTACATAGC	0.545																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1118_1121dupACCT	16.37:g.71603761_71603764dupAGGT	ENSP00000348234:p.Leu374fs		B2R8I1|D3DWS2	Frame_Shift_Ins	INS	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,prints_ACC_synthase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.M375fs	ENST00000355962.4	37	c.1122_1121	CCDS10903.1	16																																																																																			TAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	ENSG00000198650		0.545	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	17	0.00	0	-			71603760	71603761	-1	no_errors	ENST00000355962	ensembl	human	known	69_37n	frame_shift_ins	10	28.57	4	INS	0.990:1.000	AGGT
UFL1	23376	genome.wustl.edu	37	6	96990799	96990799	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr6:96990799G>A	ENST00000369278.4	+	12	1375	c.1309G>A	c.(1309-1311)Ggg>Agg	p.G437R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	437					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AGGAGGAGGTGGGGGCAATGC	0.373																																						dbGAP											0													54.0	56.0	55.0					6																	96990799		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1309G>A	6.37:g.96990799G>A	ENSP00000358283:p.Gly437Arg		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.G437R	ENST00000369278.4	37	c.1309	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468358	0.84533	.	.	ENSG00000014123	ENST00000369278	T	0.52754	0.65	5.92	5.03	0.67393	.	0.188173	0.56097	D	0.000022	T	0.55369	0.1916	M	0.79926	2.475	0.58432	D	0.999997	D	0.58970	0.984	P	0.56700	0.804	T	0.55655	-0.8107	10	0.40728	T	0.16	-7.0534	13.4317	0.61059	0.0:0.0:0.7208:0.2792	.	437	O94874	UFL1_HUMAN	R	437	ENSP00000358283:G437R	ENSP00000358283:G437R	G	+	1	0	KIAA0776	97097520	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.399000	0.66314	2.799000	0.96334	0.655000	0.94253	GGG	UFL1	-	NULL	ENSG00000014123		0.373	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	23	0.00	0	G	NM_015323		96990799	96990799	+1	no_errors	ENST00000369278	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	A
VPS13C	54832	genome.wustl.edu	37	15	62214879	62214879	+	Missense_Mutation	SNP	G	G	A	rs371685718	byFrequency	TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr15:62214879G>A	ENST00000261517.5	-	54	6765	c.6692C>T	c.(6691-6693)aCg>aTg	p.T2231M	VPS13C_ENST00000395896.4_Missense_Mutation_p.T2231M|VPS13C_ENST00000395898.3_Missense_Mutation_p.T2188M|VPS13C_ENST00000249837.3_Missense_Mutation_p.T2188M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCCTTAGACGTATCTTTGGA	0.353																																						dbGAP											0													78.0	82.0	80.0					15																	62214879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6692C>T	15.37:g.62214879G>A	ENSP00000261517:p.Thr2231Met			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.T2231M	ENST00000261517.5	37	c.6692	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311404	0.10789	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46063	0.88;0.88;0.88	5.31	0.129	0.14739	.	0.519693	0.20987	N	0.082106	T	0.33469	0.0864	M	0.64997	1.995	0.09310	N	1	P;P;P;P	0.50369	0.934;0.934;0.934;0.892	B;B;B;B	0.42188	0.379;0.379;0.379;0.21	T	0.25813	-1.0121	10	0.52906	T	0.07	.	3.1829	0.06590	0.2232:0.1115:0.5506:0.1147	.	2188;2231;2188;2231	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	2188;2231;2231;2231	ENSP00000249837:T2188M;ENSP00000261517:T2231M;ENSP00000379233:T2231M	ENSP00000249837:T2188M	T	-	2	0	VPS13C	60002171	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	0.665000	0.25083	-0.146000	0.11274	0.650000	0.86243	ACG	VPS13C	-	NULL	ENSG00000129003		0.353	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	45	0.00	0	G	NM_017684		62214879	62214879	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	59	10.61	7	SNP	0.000	A
WSCD2	9671	genome.wustl.edu	37	12	108626636	108626636	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A22H-01A-11D-A159-09	TCGA-E9-A22H-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	42993dbb-b99b-4b48-8038-05cf14fec886	7e563645-d8f4-4f6d-b382-2919b7e76d36	g.chr12:108626636G>A	ENST00000332082.4	+	8	1926	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	WSCD2_ENST00000261400.3_Missense_Mutation_p.G370S|WSCD2_ENST00000549903.1_Missense_Mutation_p.G370S|WSCD2_ENST00000547525.1_Missense_Mutation_p.G370S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	370						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTTCTACACTGGCAGCTACTA	0.587																																						dbGAP											0													49.0	48.0	49.0					12																	108626636		2072	4217	6289	-	-	-	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1108G>A	12.37:g.108626636G>A	ENSP00000331933:p.Gly370Ser		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.G370S	ENST00000332082.4	37	c.1108	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.175351	0.94807	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.53423	0.62;4.65;0.62;4.65	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.86651	2.83	0.80722	D	1	P;B	0.40211	0.707;0.192	P;B	0.47470	0.548;0.048	T	0.70684	-0.4804	10	0.56958	D	0.05	-41.6597	17.703	0.88301	0.0:0.0:1.0:0.0	.	370;370	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	S	370	ENSP00000448047:G370S;ENSP00000261400:G370S;ENSP00000331933:G370S;ENSP00000447272:G370S	ENSP00000261400:G370S	G	+	1	0	WSCD2	107150766	1.000000	0.71417	0.967000	0.41034	0.971000	0.66376	9.208000	0.95075	2.644000	0.89710	0.563000	0.77884	GGC	WSCD2	-	NULL	ENSG00000075035		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	25	0.00	0	G	NM_014653		108626636	108626636	+1	no_errors	ENST00000261400	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	A
