#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ATM	472	genome.wustl.edu	37	11	108218045	108218045	+	Missense_Mutation	SNP	A	A	G	rs587782451		TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr11:108218045A>G	ENST00000452508.2	+	60	8813	c.8624A>G	c.(8623-8625)aAt>aGt	p.N2875S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2875	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.N2875T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATGTACAGAATATCTTGATA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	liver(1)											99.0	105.0	103.0					11																	108218045		2201	4295	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8624A>G	11.37:g.108218045A>G	ENSP00000388058:p.Asn2875Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.N2875S	ENST00000452508.2	37	c.8624	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663690	0.88251	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.6511	0.77095	1.0:0.0:0.0:0.0	.	2875	Q13315	ATM_HUMAN	S	2875	ENSP00000278616:N2875S;ENSP00000388058:N2875S	ENSP00000278616:N2875S	N	+	2	0	ATM	107723255	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.850000	0.92190	2.090000	0.63153	0.454000	0.30748	AAT	ATM	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	113	0.00	0	A	NM_000051		108218045	108218045	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	21	65.00	39	SNP	1.000	G
ADAMTS8	11095	genome.wustl.edu	37	11	130286095	130286095	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr11:130286095G>A	ENST00000257359.6	-	4	1933	c.1227C>T	c.(1225-1227)agC>agT	p.S409S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	409	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GATACATGGCGCTGCAGGGGG	0.682																																						dbGAP											0													22.0	28.0	26.0					11																	130286095		2047	4167	6214	-	-	-	SO:0001819	synonymous_variant	0			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1227C>T	11.37:g.130286095G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZS0	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.S409	ENST00000257359.6	37	c.1227	CCDS41732.1	11																																																																																			ADAMTS8	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134917		0.682	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1	26	0.00	0	G	NM_007037		130286095	130286095	-1	no_errors	ENST00000257359	ensembl	human	known	69_37n	silent	43	25.86	15	SNP	0.394	A
CD79B	974	genome.wustl.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"""Mis, O"""		DLBCL																																	dbGAP		Dom	yes		17	17q23	974	"""CD79b molecule, immunoglobulin-associated beta"""		L	1	Substitution - coding silent(1)	prostate(1)											96.0	83.0	88.0					17																	62007651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS2|Q9BU06	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like	p.S72	ENST00000006750.3	37	c.216	CCDS11655.1	17																																																																																			CD79B	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000007312		0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79B	HGNC	protein_coding	OTTHUMT00000417711.1	113	0.00	0	G			62007651	62007651	-1	no_errors	ENST00000392795	ensembl	human	known	69_37n	silent	75	34.21	39	SNP	0.000	A
COL5A3	50509	genome.wustl.edu	37	19	10087234	10087234	+	Splice_Site	SNP	C	C	T	rs146470482	byFrequency	TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr19:10087234C>T	ENST00000264828.3	-	45	3427	c.3342G>A	c.(3340-3342)ccG>ccA	p.P1114P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1114	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGCACTCACCGGGGGACCTG	0.532																																						dbGAP											0													22.0	25.0	24.0					19																	10087234		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3342+1G>A	19.37:g.10087234C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.P1114	ENST00000264828.3	37	c.3342	CCDS12222.1	19																																																																																			COL5A3	-	NULL	ENSG00000080573		0.532	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	35	0.00	0	C	NM_015719	Silent	10087234	10087234	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	silent	27	41.30	19	SNP	0.943	T
COL6A5	256076	genome.wustl.edu	37	3	130202881	130202881	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr3:130202881G>C	ENST00000432398.2	+	40	8071	c.7577G>C	c.(7576-7578)tGg>tCg	p.W2526S	COL6A5_ENST00000265379.6_3'UTR	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	0	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTGCAGATGGTGAAGATAC	0.348																																						dbGAP											0													82.0	81.0	81.0					3																	130202881		1864	4102	5966	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7577G>C	3.37:g.130202881G>C	ENSP00000390895:p.Trp2526Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.W2526S	ENST00000432398.2	37	c.7577		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	3.585|3.585|3.585	-0.084900|-0.084900|-0.084900	0.07097|0.07097|0.07097	.|.|.	.|.|.	ENSG00000172752|ENSG00000172752|ENSG00000172752	ENST00000373157|ENST00000512836|ENST00000432398	T|.|D	0.74737|.|0.87729	-0.87|.|-2.29	4.39|4.39|4.39	1.5|1.5|1.5	0.22942|0.22942|0.22942	.|.|.	.|.|1.304080	.|.|0.05567	.|.|N	.|.|0.570361	T|T|T	0.79770|0.79770|0.79770	0.4503|0.4503|0.4503	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.23473|0.23473|0.23473	N|N|N	0.9976|0.9976|0.9976	.|.|P	.|.|0.36535	.|.|0.557	.|.|B	.|.|0.38616	.|.|0.277	T|T|T	0.69533|0.69533|0.69533	-0.5120|-0.5120|-0.5120	7|5|10	0.52906|.|0.66056	T|.|D	0.07|.|0.02	.|.|.	4.8843|4.8843|4.8843	0.13696|0.13696|0.13696	0.1007:0.0:0.5197:0.3796|0.1007:0.0:0.5197:0.3796|0.1007:0.0:0.5197:0.3796	.|.|.	.|.|2526	.|.|A8TX70-2	.|.|.	R|I|S	551|777|2526	ENSP00000362250:G551R|.|ENSP00000390895:W2526S	ENSP00000362250:G551R|.|ENSP00000390895:W2526S	G|M|W	+|+|+	1|3|2	0|0|0	COL6A5|COL6A5|COL6A5	131685571|131685571|131685571	0.607000|0.607000|0.607000	0.26958|0.26958|0.26958	0.149000|0.149000|0.149000	0.22428|0.22428|0.22428	0.053000|0.053000|0.053000	0.15095|0.15095|0.15095	0.565000|0.565000|0.565000	0.23578|0.23578|0.23578	0.329000|0.329000|0.329000	0.23460|0.23460|0.23460	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GGT|ATG|TGG	COL6A5	-	NULL	ENSG00000172752		0.348	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		82	0.00	0	G	NM_153264		130202881	130202881	+1	no_errors	ENST00000432398	ensembl	human	known	69_37n	missense	59	38.54	37	SNP	0.181	C
CUBN	8029	genome.wustl.edu	37	10	16942845	16942845	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr10:16942845G>A	ENST00000377833.4	-	53	8254	c.8189C>T	c.(8188-8190)aCa>aTa	p.T2730I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2730	CUB 20. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCACTAAATGTGAGCTGCAG	0.388																																						dbGAP											0													54.0	49.0	51.0					10																	16942845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8189C>T	10.37:g.16942845G>A	ENSP00000367064:p.Thr2730Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.T2730I	ENST00000377833.4	37	c.8189	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596726	0.66332	.	.	ENSG00000107611	ENST00000377833	T	0.19394	2.15	5.69	3.79	0.43588	CUB (5);	0.156504	0.30260	N	0.010021	T	0.38639	0.1048	L	0.58969	1.84	0.48135	D	0.999591	D	0.69078	0.997	D	0.70227	0.968	T	0.09796	-1.0658	10	0.62326	D	0.03	.	10.0628	0.42286	0.065:0.0:0.6906:0.2444	.	2730	O60494	CUBN_HUMAN	I	2730	ENSP00000367064:T2730I	ENSP00000367064:T2730I	T	-	2	0	CUBN	16982851	1.000000	0.71417	0.009000	0.14445	0.296000	0.27459	4.226000	0.58606	0.818000	0.34468	0.655000	0.94253	ACA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	112	0.00	0	G	NM_001081		16942845	16942845	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	76	58.24	106	SNP	0.191	A
DCC	1630	genome.wustl.edu	37	18	50450083	50450083	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr18:50450083G>C	ENST00000442544.2	+	4	1320	c.704G>C	c.(703-705)gGa>gCa	p.G235A	DCC_ENST00000412726.1_Missense_Mutation_p.G83A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	235	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATAGATCCAGGACTGCATAGA	0.358																																						dbGAP											0													112.0	98.0	103.0					18																	50450083		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.704G>C	18.37:g.50450083G>C	ENSP00000389140:p.Gly235Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G235A	ENST00000442544.2	37	c.704	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	12.10	1.838115	0.32513	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.39406	1.08;1.08	5.67	5.67	0.87782	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.71206	2.165	0.80722	D	1	B;P	0.52316	0.067;0.952	B;P	0.45946	0.046;0.498	T	0.53358	-0.8450	10	0.45353	T	0.12	.	18.5368	0.91013	0.0:0.0:1.0:0.0	.	83;235	E7EQM8;P43146	.;DCC_HUMAN	A	235;168;83	ENSP00000389140:G235A;ENSP00000397322:G83A	ENSP00000304146:G168A	G	+	2	0	DCC	48704081	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.038000	0.76537	2.679000	0.91253	0.655000	0.94253	GGA	DCC	-	pfscan_Ig-like	ENSG00000187323		0.358	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	73	0.00	0	G	NM_005215		50450083	50450083	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	79	38.28	49	SNP	1.000	C
DPYSL3	1809	genome.wustl.edu	37	5	146777319	146777319	+	Silent	SNP	G	G	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr5:146777319G>T	ENST00000398514.3	-	12	1742	c.1371C>A	c.(1369-1371)ggC>ggA	p.G457G	DPYSL3_ENST00000343218.5_Silent_p.G571G|DPYSL3_ENST00000534907.1_Silent_p.G83G	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	457					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCAGGTTGCCATCTTCCA	0.572																																						dbGAP											0													67.0	73.0	71.0					5																	146777319		2053	4217	6270	-	-	-	SO:0001819	synonymous_variant	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1371C>A	5.37:g.146777319G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3SXQ8|Q93012	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G457	ENST00000398514.3	37	c.1371	CCDS43381.1	5																																																																																			DPYSL3	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.572	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	43	0.00	0	G	NM_001387		146777319	146777319	-1	no_errors	ENST00000398514	ensembl	human	known	69_37n	silent	41	36.92	24	SNP	1.000	T
ENTPD6	955	genome.wustl.edu	37	20	25205861	25205861	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr20:25205861C>G	ENST00000376652.4	+	14	1427	c.1264C>G	c.(1264-1266)Cag>Gag	p.Q422E	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Missense_Mutation_p.Q421E|ENTPD6_ENST00000354989.5_Missense_Mutation_p.Q405E|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T402R			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	422					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCTGGAGACACAGCCGCAGAG	0.612																																						dbGAP											0													108.0	80.0	89.0					20																	25205861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1264C>G	20.37:g.25205861C>G	ENSP00000365840:p.Gln422Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.Q422E	ENST00000376652.4	37	c.1264	CCDS13170.1	20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	3.780|3.780|3.780	-0.045898|-0.045898|-0.045898	0.07452|0.07452|0.07452	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000354989;ENST00000360031;ENST00000376652|ENST00000376641;ENST00000433259	.|T;T;T|T	.|0.10668|0.19394	.|2.85;2.85;2.85|2.15	5.66|5.66|5.66	3.52|3.52|3.52	0.40303|0.40303|0.40303	.|.|.	.|1.123890|.	.|0.06317|.	.|N|.	.|0.703686|.	T|T|T	0.11665|0.11665|0.11665	0.0284|0.0284|0.0284	N|N|N	0.04043|0.04043|0.04043	-0.29|-0.29|-0.29	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B|B;B;B	.|0.16166|0.23650	.|0.016;0.0;0.001;0.001|0.023;0.089;0.089	.|B;B;B;B|B;B;B	.|0.21360|0.24155	.|0.034;0.005;0.003;0.003|0.013;0.051;0.051	T|T|T	0.25537|0.25537|0.25537	-1.0129|-1.0129|-1.0129	5|10|9	.|0.02654|0.56958	.|T|D	.|1|0.05	-5.8331|-5.8331|-5.8331	12.465|12.465|12.465	0.55753|0.55753|0.55753	0.3601:0.6399:0.0:0.0|0.3601:0.6399:0.0:0.0|0.3601:0.6399:0.0:0.0	.|.|.	.|170;405;421;422|418;436;402	.|B4DHS2;O75354-2;Q5QPJ2;O75354|B4DDM7;B4DNK6;Q5QPI9	.|.;.;.;ENTP6_HUMAN|.;.;.	Q|E|R	280;259|405;421;422|332;402	.|ENSP00000347084:Q405E;ENSP00000353131:Q421E;ENSP00000365840:Q422E|ENSP00000401895:T402R	.|ENSP00000347084:Q405E|ENSP00000365828:T332R	H|Q|T	+|+|+	3|1|2	2|0|0	ENTPD6|ENTPD6|ENTPD6	25153861|25153861|25153861	0.005000|0.005000|0.005000	0.15991|0.15991|0.15991	0.003000|0.003000|0.003000	0.11579|0.11579|0.11579	0.007000|0.007000|0.007000	0.05969|0.05969|0.05969	1.975000|1.975000|1.975000	0.40569|0.40569|0.40569	1.371000|1.371000|1.371000	0.46172|0.46172|0.46172	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	CAC|CAG|ACA	ENTPD6	-	pfam_GDA1_CD39_NTPase	ENSG00000197586		0.612	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	50	0.00	0	C			25205861	25205861	+1	no_errors	ENST00000376652	ensembl	human	known	69_37n	missense	60	44.95	49	SNP	0.026	G
FAM86B1	85002	genome.wustl.edu	37	8	12043032	12043032	+	Missense_Mutation	SNP	C	C	T	rs199637314	byFrequency	TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr8:12043032C>T	ENST00000448228.2	-	6	692	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	FAM86B1_ENST00000534520.1_Missense_Mutation_p.R126H|FAM86B1_ENST00000321602.8_Missense_Mutation_p.V21M|FAM86B1_ENST00000533852.2_Missense_Mutation_p.V249M	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	215										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAATACAGCACGTCTACGGTG	0.592																																						dbGAP											0													2.0	3.0	3.0					8																	12043032		967	1964	2931	-	-	-	SO:0001583	missense	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.643G>A	8.37:g.12043032C>T	ENSP00000407067:p.Val215Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.V249M	ENST00000448228.2	37	c.745	CCDS59512.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	11.73|11.73	1.726610|1.726610	0.30593|0.30593	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000340537;ENST00000534520|ENST00000431227;ENST00000448228;ENST00000321602;ENST00000526708	T;T|T;T	0.19394|0.39229	2.15;2.15|3.09;1.09	1.17|1.17	0.252|0.252	0.15545|0.15545	.|.	.|.	.|.	.|.	.|.	T|T	0.62816|0.62816	0.2459|0.2459	M|M	0.93328|0.93328	3.405|3.405	0.22435|0.22435	N|N	0.999108|0.999108	.|D;P;D;P	.|0.61697	.|0.99;0.938;0.982;0.953	.|P;P;P;B	.|0.59115	.|0.852;0.56;0.571;0.382	T|T	0.52859|0.52859	-0.8519|-0.8519	7|9	0.62326|0.87932	D|D	0.03|0	.|.	4.5375|4.5375	0.12040|0.12040	0.3789:0.6211:0.0:0.0|0.3789:0.6211:0.0:0.0	.|.	.|215;249;21;58	.|Q8N7N1;E9PN63;F6QN85;Q4KMP3	.|F86B1_HUMAN;.;.;.	H|M	126|249;215;21;249	ENSP00000342610:R126H;ENSP00000431362:R126H|ENSP00000407067:V215M;ENSP00000439686:V21M	ENSP00000342610:R126H|ENSP00000439686:V21M	R|V	-|-	2|1	0|0	FAM86B1|FAM86B1	12080441|12080441	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.020000|0.020000	0.10135|0.10135	3.457000|3.457000	0.53007|0.53007	0.077000|0.077000	0.16863|0.16863	-1.203000|-1.203000	0.01651|0.01651	CGT|GTG	FAM86B1	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000186523		0.592	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	13	0.00	0	C	NM_032916		12043032	12043032	-1	no_errors	ENST00000431227	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152284604	152284604	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr1:152284604C>A	ENST00000368799.1	-	3	2793	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	920	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGATGTCGGCATGAGAGGAA	0.552									Ichthyosis																													dbGAP											0													360.0	344.0	349.0					1																	152284604		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2758G>T	1.37:g.152284604C>A	ENSP00000357789:p.Ala920Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.A920S	ENST00000368799.1	37	c.2758	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	3.883	-0.025644	0.07589	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.42	-2.83	0.05769	.	.	.	.	.	T	0.00637	0.0021	M	0.80616	2.505	0.09310	N	1	B	0.20780	0.048	B	0.16722	0.016	T	0.49808	-0.8900	9	0.10377	T	0.69	.	2.0552	0.03579	0.2485:0.2686:0.0:0.4829	.	920	P20930	FILA_HUMAN	S	920	ENSP00000357789:A920S	ENSP00000357789:A920S	A	-	1	0	FLG	150551228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.458000	0.21892	-1.055000	0.03209	0.479000	0.44913	GCC	FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	302	0.00	0	C	NM_002016		152284604	152284604	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	294	39.84	196	SNP	0.000	A
FOXD4	2298	genome.wustl.edu	37	9	117506	117506	+	Missense_Mutation	SNP	G	G	A	rs2492215	byFrequency	TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr9:117506G>A	ENST00000382500.2	-	1	911	c.614C>T	c.(613-615)cCg>cTg	p.P205L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	205	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCCGGGGTCGGTTGGTGGCG	0.692																																						dbGAP											0													68.0	97.0	87.0					9																	117506		2161	4225	6386	-	-	-	SO:0001583	missense	0			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.614C>T	9.37:g.117506G>A	ENSP00000371940:p.Pro205Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P205L	ENST00000382500.2	37	c.614	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	0.044	-1.274072	0.01421	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	1.69	-1.03	0.10102	.	0.440036	0.16375	U	0.217150	D	0.82751	0.5105	N	0.08118	0	0.29875	N	0.826511	B	0.06786	0.001	B	0.04013	0.001	T	0.70741	-0.4789	10	0.27785	T	0.31	.	3.973	0.09462	0.1519:0.0:0.492:0.356	rs2492215	205	Q12950	FOXD4_HUMAN	L	205	ENSP00000371940:P205L	ENSP00000371940:P205L	P	-	2	0	FOXD4	107506	0.908000	0.30866	0.046000	0.18839	0.053000	0.15095	1.199000	0.32235	-0.557000	0.06126	-2.183000	0.00315	CCG	FOXD4	-	NULL	ENSG00000170122		0.692	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	12	0.00	0	G	NM_207305		117506	117506	-1	no_errors	ENST00000382500	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.737	A
GTPBP8	29083	genome.wustl.edu	37	3	112710242	112710242	+	Intron	SNP	T	T	C	rs2248029	byFrequency	TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr3:112710242T>C	ENST00000383678.2	+	1	418				RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000383677.3_Intron	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)						barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						ACCGCTTCCCTGGCCGTCCGG	0.567													T|||	720	0.14377	0.0318	0.1916	5008	,	,		17646	0.0784		0.2913	False		,,,				2504	0.1769					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.336+60T>C	3.37:g.112710242T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Silent	SNP	NULL	p.P132	ENST00000383678.2	37	c.396	CCDS33820.1	3																																																																																			GTPBP8	-	NULL	ENSG00000163607		0.567	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	8	0.00	0	T	NM_014170		112710242	112710242	+1	no_errors	ENST00000471627	ensembl	human	known	69_37n	silent	2	75.00	6	SNP	0.000	C
HSDL2	84263	genome.wustl.edu	37	9	115200812	115200812	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr9:115200812A>T	ENST00000398805.3	+	7	927	c.700A>T	c.(700-702)Aag>Tag	p.K234*	HSDL2_ENST00000262542.7_Nonsense_Mutation_p.K114*|HSDL2_ENST00000398803.1_Nonsense_Mutation_p.K161*|HSDL2_ENST00000539114.1_Nonsense_Mutation_p.K29*|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	234						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						CATTTTCCAAAAGCCAAAAAG	0.363																																						dbGAP											0													78.0	71.0	74.0					9																	115200812		1832	4084	5916	-	-	-	SO:0001587	stop_gained	0			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.700A>T	9.37:g.115200812A>T	ENSP00000381785:p.Lys234*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Nonsense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.K234*	ENST00000398805.3	37	c.700	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	A	37	6.521774	0.97633	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	.	.	.	5.58	5.58	0.84498	.	0.355646	0.33854	N	0.004496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7426	0.77914	1.0:0.0:0.0:0.0	.	.	.	.	X	234;161;114;29	.	ENSP00000262542:K114X	K	+	1	0	HSDL2	114240633	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.331000	0.59273	2.124000	0.65301	0.402000	0.26972	AAG	HSDL2	-	NULL	ENSG00000119471		0.363	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	59	0.00	0	A	NM_032303		115200812	115200812	+1	no_errors	ENST00000398805	ensembl	human	known	69_37n	nonsense	67	38.53	42	SNP	0.999	T
ILF3	3609	genome.wustl.edu	37	19	10798193	10798193	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr19:10798193C>G	ENST00000590261.1	+	17	2231	c.2231C>G	c.(2230-2232)tCc>tGc	p.S744C	ILF3_ENST00000588657.1_Missense_Mutation_p.S748C|ILF3_ENST00000449870.1_Missense_Mutation_p.S748C|ILF3_ENST00000318511.3_Missense_Mutation_p.S744C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	744	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGAAGCCCTCCTACGGCTCG	0.612																																						dbGAP											0													33.0	36.0	35.0					19																	10798193		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2231C>G	19.37:g.10798193C>G	ENSP00000468156:p.Ser744Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.S748C	ENST00000590261.1	37	c.2243	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838596	0.51057	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.15834	2.39;2.39	4.89	3.86	0.44501	.	0.174539	0.38058	N	0.001829	T	0.17704	0.0425	N	0.24115	0.695	0.80722	D	1	D;P	0.54207	0.965;0.94	P;B	0.50192	0.634;0.431	T	0.02220	-1.1193	10	0.87932	D	0	.	12.1772	0.54192	0.0:0.9163:0.0:0.0837	.	748;744	G5E9M5;Q12906	.;ILF3_HUMAN	C	748;744	ENSP00000404121:S748C;ENSP00000315205:S744C	ENSP00000315205:S744C	S	+	2	0	ILF3	10659193	0.943000	0.32029	1.000000	0.80357	0.994000	0.84299	2.965000	0.49200	1.290000	0.44636	0.655000	0.94253	TCC	ILF3	-	NULL	ENSG00000129351		0.612	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	29	0.00	0	C			10798193	10798193	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	missense	19	41.18	14	SNP	1.000	G
ITGBL1	9358	genome.wustl.edu	37	13	102344973	102344973	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr13:102344973G>A	ENST00000376180.3	+	8	1273	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G259R|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G211R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	352	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTATCCTCCAGGAGATCGCCG	0.483																																						dbGAP											0													227.0	186.0	200.0					13																	102344973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1054G>A	13.37:g.102344973G>A	ENSP00000365351:p.Gly352Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EGF-like	p.G352R	ENST00000376180.3	37	c.1054	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.182267	0.94885	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92545	-3.06;-3.06;-3.06	5.51	5.51	0.81932	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	L	0.46947	1.48	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.931	D	0.92014	0.5620	10	0.25751	T	0.34	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	211;352	B3KTP1;O95965	.;ITGBL_HUMAN	R	352;260;211;211;259	ENSP00000365351:G352R;ENSP00000439903:G211R;ENSP00000365332:G259R	ENSP00000365332:G259R	G	+	1	0	ITGBL1	101142974	1.000000	0.71417	0.757000	0.31301	0.910000	0.53928	8.439000	0.90308	2.765000	0.95021	0.655000	0.94253	GGA	ITGBL1	-	pfam_EGF_extracell	ENSG00000198542		0.483	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	100	0.00	0	G	NM_004791		102344973	102344973	+1	no_errors	ENST00000376180	ensembl	human	known	69_37n	missense	86	42.38	64	SNP	0.999	A
KCNN3	3782	genome.wustl.edu	37	1	154842243	154842244	+	Missense_Mutation	DNP	AA	AA	CT			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr1:154842243_154842244AA>CT	ENST00000271915.4	-	1	512_513	c.197_198TT>AG	c.(196-198)cTT>cAG	p.L66Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggagg	0.703																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197_198delinsCT	1.37:g.154842243_154842244delinsCT	ENSP00000271915:p.Leu66Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent|Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.L66|p.L66H	ENST00000271915.4	37	c.198|c.197	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.703	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	21	0.00	0	A	NM_002249		154842243|154842244	154842243|154842244	-1	no_errors	ENST00000271915	ensembl	human	known	69_37n	silent|missense	56|58	32.53|30.12	27|25	SNP	0.000|0.166	C|T
ICE1	23379	genome.wustl.edu	37	5	5457497	5457497	+	Silent	SNP	G	G	T	rs372914209		TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr5:5457497G>T	ENST00000296564.7	+	12	966	c.744G>T	c.(742-744)acG>acT	p.T248T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		248					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGATGGTACGCTACCTCCAA	0.458																																						dbGAP											0													42.0	43.0	43.0					5																	5457497		2052	4208	6260	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000296564.7:c.744G>T	5.37:g.5457497G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.T248	ENST00000296564.7	37	c.744	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.458	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	62	0.00	0	G			5457497	5457497	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	silent	52	38.82	33	SNP	0.000	T
KRT34	3885	genome.wustl.edu	37	17	39535625	39535625	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr17:39535625G>T	ENST00000394001.1	-	5	1012	c.982C>A	c.(982-984)Ctg>Atg	p.L328M		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	328	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGGGCCTGCAGCTCGATCTCC	0.602																																						dbGAP											0													103.0	85.0	91.0					17																	39535625		2203	4297	6500	-	-	-	SO:0001583	missense	0			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.982C>A	17.37:g.39535625G>T	ENSP00000377570:p.Leu328Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L328M	ENST00000394001.1	37	c.982	CCDS11390.1	17	.	.	.	.	.	.	.	.	.	.	g	20.6	4.010656	0.75046	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.69	4.69	0.59074	Filament (1);	0.000000	0.49305	D	0.000146	D	0.86184	0.5872	H	0.96239	3.79	0.43462	D	0.995669	D	0.55385	0.971	P	0.60949	0.881	D	0.90951	0.4805	9	0.72032	D	0.01	.	16.9529	0.86250	0.0:0.0:1.0:0.0	.	328	O76011	KRT34_HUMAN	M	286;328	.	ENSP00000251648:L328M	L	-	1	2	KRT34	36789151	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	9.296000	0.96104	2.311000	0.77944	0.555000	0.69702	CTG	KRT34	-	pfam_F,prints_Keratin_I	ENSG00000131737		0.602	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	271	0.00	0	G	NM_021013		39535625	39535625	-1	no_errors	ENST00000394001	ensembl	human	known	69_37n	missense	270	27.22	101	SNP	1.000	T
LRRTM1	347730	genome.wustl.edu	37	2	80530639	80530639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr2:80530639G>T	ENST00000295057.3	-	2	962	c.306C>A	c.(304-306)tgC>tgA	p.C102*	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Nonsense_Mutation_p.C102*|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	102					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTGCACGGAGCAGATGTGAT	0.592										HNSCC(69;0.2)																												dbGAP											0													158.0	149.0	152.0					2																	80530639		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.306C>A	2.37:g.80530639G>T	ENSP00000295057:p.Cys102*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K397|D6W5K1|Q96DN1	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C102*	ENST00000295057.3	37	c.306	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.366114	0.95900	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	.	.	.	4.78	4.78	0.61160	.	0.266103	0.39341	U	0.001395	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8107	0.88614	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	.	C	-	3	2	LRRTM1	80384150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.491000	0.73649	2.191000	0.70037	0.543000	0.68304	TGC	LRRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.592	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	73	0.00	0	G	NM_178839		80530639	80530639	-1	no_errors	ENST00000295057	ensembl	human	known	69_37n	nonsense	22	63.33	38	SNP	1.000	T
MST1L	11223	genome.wustl.edu	37	1	17085780	17085780	+	RNA	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr1:17085780G>A	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCCGCACGTCGTCTGTACAAC	0.692																																						dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085780G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.D347	ENST00000455405.2	37	c.1041		1																																																																																			MST1P9	-	smart_Kringle	ENSG00000186715		0.692	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	21	0.00	0	G	NM_001271733		17085780	17085780	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	1.000	A
MUC20	200958	genome.wustl.edu	37	3	195452005	195452005	+	Silent	SNP	C	C	T	rs145612981		TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr3:195452005C>T	ENST00000447234.2	+	2	657	c.531C>T	c.(529-531)agC>agT	p.S177S	MUC20_ENST00000445522.2_Silent_p.S142S|MUC20_ENST00000436408.1_Silent_p.S177S|MUC20_ENST00000320736.6_Silent_p.S177S	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	177	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGAGAGCAGCGCCTCTTCCG	0.602																																						dbGAP											0													45.0	45.0	45.0					3																	195452005		1863	4100	5963	-	-	-	SO:0001819	synonymous_variant	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.531C>T	3.37:g.195452005C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	NULL	p.S177	ENST00000447234.2	37	c.531		3																																																																																			MUC20	-	NULL	ENSG00000176945		0.602	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	21	0.00	0	C	NM_152673		195452005	195452005	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1265475	1265475	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr11:1265475G>A	ENST00000529681.1	+	31	7423	c.7365G>A	c.(7363-7365)ccG>ccA	p.P2455P	MUC5B_ENST00000447027.1_Silent_p.P2458P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2455	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCACCCCGTCCTCCACCC	0.667																																						dbGAP											0													46.0	48.0	47.0					11																	1265475		1628	3494	5122	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7365G>A	11.37:g.1265475G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P2458	ENST00000529681.1	37	c.7374	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	54	0.00	0	G	XM_001126093		1265475	1265475	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	49	42.35	36	SNP	0.000	A
MYO6	4646	genome.wustl.edu	37	6	76540247	76540247	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr6:76540247C>T	ENST00000369977.3	+	5	515	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	MYO6_ENST00000369975.1_Missense_Mutation_p.H126Y|MYO6_ENST00000369985.4_Missense_Mutation_p.H126Y|MYO6_ENST00000369981.3_Missense_Mutation_p.H126Y	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	126	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGACCACCTCATGTCTTTGC	0.284																																						dbGAP											0													90.0	90.0	90.0					6																	76540247		2203	4297	6500	-	-	-	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.376C>T	6.37:g.76540247C>T	ENSP00000358994:p.His126Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.H126Y	ENST00000369977.3	37	c.376	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648175	0.87958	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.974	D	0.98802	1.0740	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	126;126	Q9UM54-2;Q9UM54-1	.;.	Y	126	ENSP00000358998:H126Y;ENSP00000359002:H126Y;ENSP00000358994:H126Y;ENSP00000358992:H126Y	ENSP00000358992:H126Y	H	+	1	0	MYO6	76596967	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.382000	0.79729	2.894000	0.99253	0.655000	0.94253	CAT	MYO6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000196586		0.284	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	95	0.00	0	C	NM_004999		76540247	76540247	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	missense	25	69.14	56	SNP	1.000	T
NALCN	259232	genome.wustl.edu	37	13	101936304	101936304	+	Missense_Mutation	SNP	G	G	C	rs549926959		TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr13:101936304G>C	ENST00000251127.6	-	10	1195	c.1114C>G	c.(1114-1116)Cgc>Ggc	p.R372G	NALCN_ENST00000376196.3_Missense_Mutation_p.R372G|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	372					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R372C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGGGGCGCGTCCCTGGGGC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		14591	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											42.0	43.0	42.0					13																	101936304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1114C>G	13.37:g.101936304G>C	ENSP00000251127:p.Arg372Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R372G	ENST00000251127.6	37	c.1114	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765396	0.31228	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98732	-4.67;-5.1	5.45	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	N	0.14661	0.345	0.80722	D	1	B;P;B	0.42785	0.001;0.79;0.002	B;B;B	0.37239	0.006;0.244;0.006	D	0.93232	0.6618	10	0.25751	T	0.34	.	10.9429	0.47283	0.0:0.0:0.5829:0.4171	.	372;372;372	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	G	372	ENSP00000251127:R372G;ENSP00000365367:R372G	ENSP00000251127:R372G	R	-	1	0	NALCN	100734305	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.564000	0.60830	2.568000	0.86640	0.543000	0.68304	CGC	NALCN	-	NULL	ENSG00000102452		0.473	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	38	0.00	0	G	NM_052867		101936304	101936304	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	1.000	C
TENM4	26011	genome.wustl.edu	37	11	78440581	78440581	+	Silent	SNP	C	C	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr11:78440581C>T	ENST00000278550.7	-	22	3708	c.3246G>A	c.(3244-3246)ccG>ccA	p.P1082P		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1082					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGGGGATGGTCGGGTGGGTGA	0.572																																						dbGAP											0													59.0	66.0	64.0					11																	78440581		1982	4149	6131	-	-	-	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3246G>A	11.37:g.78440581C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P1082	ENST00000278550.7	37	c.3246	CCDS44688.1	11																																																																																			ODZ4	-	NULL	ENSG00000149256		0.572	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	84	0.00	0	C			78440581	78440581	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	116	18.31	26	SNP	1.000	T
PIGO	84720	genome.wustl.edu	37	9	35095509	35095509	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr9:35095509G>A	ENST00000378617.3	-	2	448	c.54C>T	c.(52-54)taC>taT	p.Y18Y	PIGO_ENST00000341666.3_Silent_p.Y18Y|PIGO_ENST00000361778.2_Silent_p.Y18Y|PIGO_ENST00000298004.5_Silent_p.Y18Y|PIGO_ENST00000492770.1_5'UTR|RP11-182N22.8_ENST00000431804.1_RNA	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	18					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAATGCCAGCGTAGAAGAGGA	0.572																																						dbGAP											0													26.0	25.0	25.0					9																	35095509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.54C>T	9.37:g.35095509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Y18	ENST00000378617.3	37	c.54	CCDS6575.1	9																																																																																			PIGO	-	NULL	ENSG00000165282		0.572	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	20	0.00	0	G	NM_032634		35095509	35095509	-1	no_errors	ENST00000341666	ensembl	human	known	69_37n	silent	46	31.34	21	SNP	0.099	A
PLBD2	196463	genome.wustl.edu	37	12	113825554	113825554	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr12:113825554A>G	ENST00000280800.3	+	11	1476	c.1445A>G	c.(1444-1446)aAt>aGt	p.N482S	PLBD2_ENST00000545182.2_Missense_Mutation_p.N450S	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	482					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCAGGTACAATGACTTCCTC	0.582																																						dbGAP											0													336.0	329.0	331.0					12																	113825554		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1445A>G	12.37:g.113825554A>G	ENSP00000280800:p.Asn482Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5E2	Missense_Mutation	SNP	pfam_PLipase_B-like	p.N482S	ENST00000280800.3	37	c.1445	CCDS9168.1	12	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440853	0.83993	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.22743	1.94;1.94	5.07	5.07	0.68467	.	0.095345	0.64402	D	0.000002	T	0.49525	0.1562	M	0.86028	2.79	0.43025	D	0.994581	D;D	0.89917	0.997;1.0	P;D	0.65443	0.895;0.935	T	0.59289	-0.7482	10	0.87932	D	0	-23.9128	15.1517	0.72706	1.0:0.0:0.0:0.0	.	450;482	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	S	450;482	ENSP00000443463:N450S;ENSP00000280800:N482S	ENSP00000280800:N482S	N	+	2	0	PLBD2	112309937	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	6.856000	0.75450	2.049000	0.60858	0.454000	0.30748	AAT	PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.582	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	70	0.00	0	A	NM_173542		113825554	113825554	+1	no_errors	ENST00000280800	ensembl	human	known	69_37n	missense	50	28.57	20	SNP	1.000	G
PPP1R9A	55607	genome.wustl.edu	37	7	94540068	94540068	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr7:94540068C>A	ENST00000433881.1	+	2	1175	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P215T|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P215T|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.P215T|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P215T|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P215T			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	215					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CACTGATTCTCCCAGTGCCAT	0.453										HNSCC(28;0.073)																												dbGAP											0													82.0	75.0	77.0					7																	94540068		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.643C>A	7.37:g.94540068C>A	ENSP00000398870:p.Pro215Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.P215T	ENST00000433881.1	37	c.643	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.413197	0.01145	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.52	3.73	0.42828	.	0.465738	0.24481	N	0.038147	D	0.90580	0.7047	L	0.57536	1.79	0.29253	N	0.871874	B;B;B;B;B	0.24368	0.085;0.043;0.102;0.047;0.047	B;B;B;B;B	0.23852	0.026;0.03;0.049;0.022;0.036	T	0.82936	-0.0210	9	.	.	.	.	12.2493	0.54589	0.0:0.862:0.0:0.138	.	215;215;215;215;215	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	T	215	ENSP00000405514:P215T;ENSP00000344524:P215T;ENSP00000411342:P215T;ENSP00000398870:P215T;ENSP00000289495:P215T;ENSP00000402893:P215T	.	P	+	1	0	PPP1R9A	94378004	0.912000	0.30974	0.322000	0.25334	0.002000	0.02628	1.464000	0.35288	0.821000	0.34540	-0.218000	0.12543	CCC	PPP1R9A	-	NULL	ENSG00000158528		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	76	0.00	0	C	NM_001166160		94540068	94540068	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	missense	73	40.65	50	SNP	0.953	A
PLXNA4	91584	genome.wustl.edu	37	7	131848966	131848966	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr7:131848966C>T	ENST00000359827.3	-	24	5397	c.4435G>A	c.(4435-4437)Ggc>Agc	p.G1479S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1479S			Q9HCM2	PLXA4_HUMAN	plexin A4	1479					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGGGCCTCGCCCGTGATGGCG	0.592																																						dbGAP											0													75.0	78.0	77.0					7																	131848966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4435G>A	7.37:g.131848966C>T	ENSP00000352882:p.Gly1479Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1479S	ENST00000359827.3	37	c.4435	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098944	0.76870	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16743	2.32;2.32	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20571	-1.0271	10	0.46703	T	0.11	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1479	Q9HCM2	PLXA4_HUMAN	S	1479	ENSP00000323194:G1479S;ENSP00000352882:G1479S	ENSP00000323194:G1479S	G	-	1	0	PLXNA4	131499506	1.000000	0.71417	0.150000	0.22450	0.662000	0.39071	5.999000	0.70665	2.550000	0.86006	0.655000	0.94253	GGC	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	101	0.00	0	C	NM_181775		131848966	131848966	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	72	37.93	44	SNP	0.997	T
QSER1	79832	genome.wustl.edu	37	11	32955077	32955078	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr11:32955077_32955078insA	ENST00000399302.2	+	4	2221_2222	c.1886_1887insA	c.(1885-1890)tcaaaafs	p.SK629fs	QSER1_ENST00000527788.1_Frame_Shift_Ins_p.SK390fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	629										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTGCAAGCATCAAAAAAAGAAG	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1893dupA	11.37:g.32955084_32955084dupA	ENSP00000382241:p.Ser629fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Frame_Shift_Ins	INS	NULL	p.E632fs	ENST00000399302.2	37	c.1886_1887	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.376	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	38	0.00	0	-	NM_024774		32955077	32955078	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	frame_shift_ins	29	38.30	18	INS	0.958:0.967	A
RB1CC1	9821	genome.wustl.edu	37	8	53569852	53569852	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr8:53569852T>C	ENST00000025008.5	-	15	3060	c.2537A>G	c.(2536-2538)aAc>aGc	p.N846S	RB1CC1_ENST00000435644.2_Missense_Mutation_p.N846S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.N846S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	846					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)				TTCAATAATGTTTCTTATTTC	0.284																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													51.0	52.0	52.0					8																	53569852		2203	4295	6498	-	-	-	SO:0001583	missense	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.2537A>G	8.37:g.53569852T>C	ENSP00000025008:p.Asn846Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.N846S	ENST00000025008.5	37	c.2537	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	T	8.974	0.973735	0.18736	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15952	2.38;2.38;2.38	5.28	1.32	0.21799	.	0.199857	0.51477	N	0.000094	T	0.07818	0.0196	N	0.12182	0.205	0.40485	D	0.980485	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.002	T	0.26467	-1.0102	10	0.26408	T	0.33	-9.9867	6.3959	0.21613	0.0:0.1422:0.1324:0.7254	.	846;846	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	S	846	ENSP00000025008:N846S;ENSP00000396067:N846S;ENSP00000445960:N846S	ENSP00000025008:N846S	N	-	2	0	RB1CC1	53732405	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	2.092000	0.41700	0.402000	0.25451	0.460000	0.39030	AAC	RB1CC1	-	NULL	ENSG00000023287		0.284	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	81	0.00	0	T	NM_014781		53569852	53569852	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	missense	61	34.41	32	SNP	0.995	C
RNF215	200312	genome.wustl.edu	37	22	30775717	30775718	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr22:30775717_30775718delCA	ENST00000382363.3	-	8	1167_1168	c.1093_1094delTG	c.(1093-1095)tgcfs	p.C365fs	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	365						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTTGAATTTGCACAGTGGGCAG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.1093_1094delTG	22.37:g.30775719_30775720delCA	ENSP00000371800:p.Cys365fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEL1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C365fs	ENST00000382363.3	37	c.1094_1093	CCDS33633.1	22																																																																																			RNF215	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000099999		0.629	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF215	HGNC	protein_coding	OTTHUMT00000320960.1	75	0.00	0	CA	NM_001017981		30775717	30775718	-1	no_errors	ENST00000382363	ensembl	human	known	69_37n	frame_shift_del	20	54.72	29	DEL	1.000:1.000	-
SEMA5A	9037	genome.wustl.edu	37	5	9108318	9108318	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr5:9108318G>A	ENST00000382496.5	-	16	2672	c.2007C>T	c.(2005-2007)tgC>tgT	p.C669C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	669	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.C669W(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCCACCCCCGCATTGGGCTG	0.542																																						dbGAP											1	Substitution - Missense(1)	lung(1)											76.0	66.0	70.0					5																	9108318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2007C>T	5.37:g.9108318G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC6|O60408|Q1RLL9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.C669	ENST00000382496.5	37	c.2007	CCDS3875.1	5																																																																																			SEMA5A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112902		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	52	0.00	0	G			9108318	9108318	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	silent	44	39.73	29	SNP	0.092	A
SERPINE2	5270	genome.wustl.edu	37	2	224863029	224863031	+	In_Frame_Del	DEL	TTG	TTG	-	rs146543556		TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	TTG	TTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr2:224863029_224863031delTTG	ENST00000258405.4	-	3	530_532	c.288_290delCAA	c.(286-291)aacaag>aag	p.N96del	SERPINE2_ENST00000409840.3_In_Frame_Del_p.N96del|SERPINE2_ENST00000409304.1_In_Frame_Del_p.N96del|SERPINE2_ENST00000447280.2_In_Frame_Del_p.N108del	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	96					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GACGATGGCCTTGTTGATCTTCT	0.34																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.288_290delCAA	2.37:g.224863032_224863034delTTG	ENSP00000258405:p.Asn96del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6A4|B4DIF2|Q53S15|Q5D0C4	In_Frame_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.N96in_frame_del	ENST00000258405.4	37	c.290_288	CCDS2460.1	2																																																																																			SERPINE2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000135919		0.340	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	132	0.00	0	TTG	NM_006216		224863029	224863031	-1	no_errors	ENST00000258405	ensembl	human	known	69_37n	in_frame_del	38	52.38	44	DEL	1.000:1.000:1.000	-
SLC16A9	220963	genome.wustl.edu	37	10	61412689	61412689	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr10:61412689G>A	ENST00000395348.3	-	6	2007	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	SLC16A9_ENST00000395347.1_Silent_p.T457T	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	457					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CATAGGTCTGGGTCCAGTCAT	0.403																																						dbGAP											0													66.0	70.0	69.0					10																	61412689		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1371C>T	10.37:g.61412689G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMI2|Q9UFH8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T457	ENST00000395348.3	37	c.1371	CCDS7256.1	10																																																																																			SLC16A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165449		0.403	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	64	0.00	0	G	NM_194298		61412689	61412689	-1	no_errors	ENST00000395347	ensembl	human	known	69_37n	silent	18	57.14	24	SNP	0.991	A
SLC9C1	285335	genome.wustl.edu	37	3	111996653	111996653	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr3:111996653G>T	ENST00000305815.5	-	5	625	c.373C>A	c.(373-375)Cat>Aat	p.H125N	SLC9C1_ENST00000467397.1_5'Flank|SLC9C1_ENST00000487372.1_Missense_Mutation_p.H125N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	125					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GATGCCAGATGCCAAAGAACT	0.343																																						dbGAP											0													69.0	76.0	73.0					3																	111996653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.373C>A	3.37:g.111996653G>T	ENSP00000306627:p.His125Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.H125N	ENST00000305815.5	37	c.373	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	5.916	0.353156	0.11182	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.06371	3.31;3.31;3.31	5.13	-1.76	0.08006	Cation/H+ exchanger (1);	0.150400	0.31092	N	0.008267	T	0.02193	0.0068	N	0.03608	-0.345	0.22330	N	0.999194	B;B	0.10296	0.002;0.003	B;B	0.14023	0.01;0.006	T	0.39333	-0.9619	10	0.33141	T	0.24	.	5.0152	0.14333	0.6306:0.0:0.2405:0.1289	.	125;125	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	125;125;52	ENSP00000306627:H125N;ENSP00000420688:H125N;ENSP00000417274:H52N	ENSP00000306627:H125N	H	-	1	0	SLC9A10	113479343	1.000000	0.71417	0.932000	0.37286	0.047000	0.14425	1.520000	0.35899	-0.573000	0.05998	-2.425000	0.00216	CAT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.343	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	66	0.00	0	G	NM_183061		111996653	111996653	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	missense	50	40.48	34	SNP	0.991	T
SNX30	401548	genome.wustl.edu	37	9	115567232	115567232	+	Silent	SNP	T	T	C			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr9:115567232T>C	ENST00000374232.3	+	2	497	c.333T>C	c.(331-333)taT>taC	p.Y111Y		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	111	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACATCACCTATAGGATCACCA	0.448																																						dbGAP											0													181.0	162.0	168.0					9																	115567232		1942	4152	6094	-	-	-	SO:0001819	synonymous_variant	0			AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.333T>C	9.37:g.115567232T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,smart_Phox,pfscan_Phox	p.Y111	ENST00000374232.3	37	c.333	CCDS43865.1	9																																																																																			SNX30	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000148158		0.448	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX30	HGNC	protein_coding	OTTHUMT00000053700.1	112	0.00	0	T			115567232	115567232	+1	no_errors	ENST00000374232	ensembl	human	known	69_37n	silent	35	73.88	99	SNP	0.996	C
SSH2	85464	genome.wustl.edu	37	17	28022486	28022486	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr17:28022486G>A	ENST00000269033.3	-	4	418	c.267C>T	c.(265-267)aaC>aaT	p.N89N	SSH2_ENST00000540801.1_Silent_p.N116N|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	89					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGCCTGATGTTGTCTTCTG	0.378																																						dbGAP											0													167.0	139.0	148.0					17																	28022486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.267C>T	17.37:g.28022486G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.N89	ENST00000269033.3	37	c.267	CCDS11253.1	17																																																																																			SSH2	-	NULL	ENSG00000141298		0.378	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	115	0.00	0	G	NM_033389		28022486	28022486	-1	no_errors	ENST00000269033	ensembl	human	known	69_37n	silent	72	27.27	27	SNP	1.000	A
TNR	7143	genome.wustl.edu	37	1	175372511	175372511	+	Silent	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr1:175372511G>A	ENST00000367674.2	-	4	1449	c.741C>T	c.(739-741)gaC>gaT	p.D247D	TNR_ENST00000263525.2_Silent_p.D247D			Q92752	TENR_HUMAN	tenascin R	247	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACACTCCCCGTCCACGCAGA	0.627																																						dbGAP											0													94.0	76.0	82.0					1																	175372511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.741C>T	1.37:g.175372511G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.D247	ENST00000367674.2	37	c.741	CCDS1318.1	1																																																																																			TNR	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000116147		0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	45	0.00	0	G	NM_003285		175372511	175372511	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	silent	16	67.35	33	SNP	1.000	A
TTC38	55020	genome.wustl.edu	37	22	46685729	46685729	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr22:46685729G>A	ENST00000381031.3	+	13	1325	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	TTC38_ENST00000445282.2_Missense_Mutation_p.V359I	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	417						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TCAGAGAGACGTCTTCAACCA	0.627																																						dbGAP											0													112.0	125.0	121.0					22																	46685729		2107	4223	6330	-	-	-	SO:0001583	missense	0				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1249G>A	22.37:g.46685729G>A	ENSP00000370419:p.Val417Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV27|Q9NWP8	Missense_Mutation	SNP	NULL	p.V359I	ENST00000381031.3	37	c.1075	CCDS43030.1	22	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532546	0.45073	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.57595	0.39;0.41	4.98	1.68	0.24146	.	0.428647	0.25361	N	0.031226	T	0.31071	0.0785	L	0.37630	1.12	0.42217	D	0.991832	B;B	0.33044	0.191;0.395	B;B	0.21917	0.037;0.037	T	0.05435	-1.0885	10	0.20046	T	0.44	6.2276	5.0499	0.14503	0.2661:0.1512:0.5827:0.0	.	359;417	E7ES35;Q5R3I4	.;TTC38_HUMAN	I	417;359	ENSP00000370419:V417I;ENSP00000393960:V359I	ENSP00000370419:V417I	V	+	1	0	TTC38	45064393	0.755000	0.28372	0.974000	0.42286	0.956000	0.61745	0.932000	0.28884	0.520000	0.28426	0.655000	0.94253	GTC	TTC38	-	NULL	ENSG00000075234		0.627	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TTC38	HGNC	protein_coding	OTTHUMT00000318469.1	56	0.00	0	G	NM_017931		46685729	46685729	+1	no_errors	ENST00000445282	ensembl	human	known	69_37n	missense	17	66.67	34	SNP	0.971	A
TTC39C	125488	genome.wustl.edu	37	18	21698089	21698089	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr18:21698089G>A	ENST00000317571.3	+	8	1315	c.1079G>A	c.(1078-1080)gGt>gAt	p.G360D	TTC39C_ENST00000304621.6_Splice_Site_p.G299D|RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000540918.2_Splice_Site_p.G53D	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	360										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCTTTCATAGGTTGGTGCAGC	0.418																																						dbGAP											0													121.0	111.0	114.0					18																	21698089		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1079-1G>A	18.37:g.21698089G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.G360D	ENST00000317571.3	37	c.1079	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.709912	0.89018	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	D;D;D	0.81908	-1.55;-1.55;-1.55	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90979	0.4826	9	.	.	.	.	18.0387	0.89313	0.0:0.0:1.0:0.0	.	360	Q8N584	TT39C_HUMAN	D	299;360;53	ENSP00000306598:G299D;ENSP00000323645:G360D;ENSP00000443016:G53D	.	G	+	2	0	TTC39C	19952087	1.000000	0.71417	0.997000	0.53966	0.801000	0.45260	9.227000	0.95236	2.544000	0.85801	0.655000	0.94253	GGT	TTC39C	-	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	ENSG00000168234		0.418	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	101	0.00	0	G	NM_153211	Missense_Mutation	21698089	21698089	+1	no_errors	ENST00000317571	ensembl	human	known	69_37n	missense	85	29.75	36	SNP	1.000	A
WBSCR28	135886	genome.wustl.edu	37	7	73279928	73279928	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr7:73279928G>T	ENST00000320531.2	+	3	559	c.523G>T	c.(523-525)Gta>Tta	p.V175L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	175						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GAACTGCGTGGTAAGGAAGCT	0.582																																						dbGAP											0													166.0	170.0	169.0					7																	73279928		2196	4294	6490	-	-	-	SO:0001583	missense	0			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.523G>T	7.37:g.73279928G>T	ENSP00000316775:p.Val175Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UE04|Q8NHP4	Missense_Mutation	SNP	NULL	p.V175L	ENST00000320531.2	37	c.523	CCDS43597.1	7	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705663	0.30232	.	.	ENSG00000175877	ENST00000320531	T	0.20200	2.09	3.82	0.637	0.17735	.	0.246610	0.21039	N	0.081218	T	0.10465	0.0256	N	0.16656	0.425	0.09310	N	1	B	0.20052	0.041	B	0.20767	0.031	T	0.22906	-1.0203	10	0.33940	T	0.23	-15.0758	5.7966	0.18389	0.0:0.1918:0.4152:0.393	.	175	Q6UE05	WBS28_HUMAN	L	175	ENSP00000316775:V175L	ENSP00000316775:V175L	V	+	1	0	WBSCR28	72917864	0.017000	0.18338	0.052000	0.19188	0.007000	0.05969	0.988000	0.29616	0.382000	0.24878	0.558000	0.71614	GTA	WBSCR28	-	NULL	ENSG00000175877		0.582	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR28	HGNC	protein_coding	OTTHUMT00000348130.1	123	0.00	0	G	NM_182504		73279928	73279928	+1	no_errors	ENST00000320531	ensembl	human	known	69_37n	missense	108	39.66	71	SNP	0.009	T
ZBTB5	9925	genome.wustl.edu	37	9	37441075	37441075	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1J6-01A-11D-A188-09	TCGA-EW-A1J6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d95c5cb1-d081-47fa-8ac0-1ade7652a0af	59bd462d-a2b2-4736-9a1f-f5658c82e15f	g.chr9:37441075G>C	ENST00000307750.4	-	2	1662	c.1474C>G	c.(1474-1476)Cag>Gag	p.Q492E		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCTGAAGTCTGCACACACGGC	0.562																																						dbGAP											0													48.0	43.0	45.0					9																	37441075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1474C>G	9.37:g.37441075G>C	ENSP00000307604:p.Gln492Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q492E	ENST00000307750.4	37	c.1474	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596806	0.28445	.	.	ENSG00000168795	ENST00000307750	T	0.07908	3.15	5.49	5.49	0.81192	.	0.193223	0.46442	D	0.000286	T	0.07413	0.0187	N	0.24115	0.695	0.39667	D	0.970692	P	0.37864	0.61	B	0.31751	0.135	T	0.33214	-0.9877	10	0.42905	T	0.14	.	19.1682	0.93565	0.0:0.0:1.0:0.0	.	492	O15062	ZBTB5_HUMAN	E	492	ENSP00000307604:Q492E	ENSP00000307604:Q492E	Q	-	1	0	ZBTB5	37431075	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.951000	0.63610	2.865000	0.98341	0.655000	0.94253	CAG	ZBTB5	-	NULL	ENSG00000168795		0.562	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	62	0.00	0	G	NM_014872		37441075	37441075	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	missense	50	32.89	25	SNP	1.000	C
