#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
ADAM23	8745	genome.wustl.edu	37	2	207431970	207431970	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr2:207431970C>T	ENST00000264377.3	+	15	1746	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	ADAM23_ENST00000374416.1_Missense_Mutation_p.S473L|ADAM23_ENST00000374415.3_Missense_Mutation_p.S473L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	473	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S473*(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CGAAAATTTTCAAAGTGCAGC	0.363																																					Melanoma(194;1127 2130 19620 24042 27855)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											81.0	86.0	84.0					2																	207431970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1418C>T	2.37:g.207431970C>T	ENSP00000264377:p.Ser473Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.S473L	ENST00000264377.3	37	c.1418	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.283803	0.95489	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.37915	1.17;1.17;1.17	5.94	5.94	0.96194	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.52532	D	0.000066	T	0.70798	0.3265	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76244	-0.3030	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	473	O75077	ADA23_HUMAN	L	473;473;367;473	ENSP00000264377:S473L;ENSP00000363537:S473L;ENSP00000363536:S473L	ENSP00000264377:S473L	S	+	2	0	ADAM23	207140215	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.183000	0.77697	2.816000	0.96949	0.561000	0.74099	TCA	ADAM23	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000114948		0.363	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	126	0.00	0	C	NM_003812		207431970	207431970	+1	no_errors	ENST00000264377	ensembl	human	known	69_37n	missense	87	25.64	30	SNP	1.000	T
ANKRD33B	651746	genome.wustl.edu	37	5	10618519	10618519	+	Silent	SNP	C	C	T	rs568552373		TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr5:10618519C>T	ENST00000296657.5	+	2	441	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	147																	CCCACGTTGACGTCAACTGGC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18280	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													93.0	79.0	83.0					5																	10618519		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47191.1	5p15.2	2013-01-10			ENSG00000164236	ENSG00000164236		"""Ankyrin repeat domain containing"""	35240	protein-coding gene	gene with protein product							Standard	NM_001164440		Approved		uc021xwp.1	A6NCL7	OTTHUMG00000162050	ENST00000296657.5:c.441C>T	5.37:g.10618519C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.D147	ENST00000296657.5	37	c.441	CCDS47191.1	5																																																																																			ANKRD33B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164236		0.592	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	51	0.00	0	C	XM_001130634		10618519	10618519	+1	no_errors	ENST00000504806	ensembl	human	known	69_37n	silent	49	23.44	15	SNP	0.995	T
ARHGAP35	2909	genome.wustl.edu	37	19	47424345	47424345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr19:47424345C>T	ENST00000404338.3	+	1	2413	c.2413C>T	c.(2413-2415)Cag>Tag	p.Q805*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	805					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TCCTGTCCTTCAGTCCCAAAC	0.418																																						dbGAP											0													161.0	153.0	155.0					19																	47424345		1952	4173	6125	-	-	-	SO:0001587	stop_gained	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2413C>T	19.37:g.47424345C>T	ENSP00000385720:p.Gln805*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q805*	ENST00000404338.3	37	c.2413	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.282901	0.98186	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.49	5.49	0.81192	.	0.186340	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-18.1933	13.4769	0.61314	0.1568:0.8432:0.0:0.0	.	.	.	.	X	805	.	ENSP00000324820:Q805X	Q	+	1	0	ARHGAP35	52116185	0.079000	0.21365	1.000000	0.80357	0.999000	0.98932	0.540000	0.23191	2.743000	0.94032	0.655000	0.94253	CAG	ARHGAP35	-	NULL	ENSG00000160007		0.418	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	163	0.00	0	C	NM_004491		47424345	47424345	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	nonsense	94	34.27	49	SNP	1.000	T
NOL4L	140688	genome.wustl.edu	37	20	31041156	31041156	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr20:31041156C>T	ENST00000359676.5	-	5	858	c.716G>A	c.(715-717)cGc>cAc	p.R239H	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		239						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GAGGTACGTGCGGATGCGCTT	0.622																																						dbGAP											0													62.0	58.0	59.0					20																	31041156		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000359676.5:c.716G>A	20.37:g.31041156C>T	ENSP00000352704:p.Arg239His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.R239H	ENST00000359676.5	37	c.716	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.502099	0.96371	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	T	0.80393	-1.37	4.56	4.56	0.56223	.	0.112240	0.64402	D	0.000007	D	0.89203	0.6648	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.90741	0.4650	10	0.87932	D	0	-6.8538	17.0987	0.86642	0.0:1.0:0.0:0.0	.	239	Q96MY1	CT112_HUMAN	H	239	ENSP00000352704:R239H	ENSP00000352704:R239H	R	-	2	0	C20orf112	30504817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.370000	0.80446	0.491000	0.48974	CGC	C20orf112	-	NULL	ENSG00000197183		0.622	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	54	0.00	0	C			31041156	31041156	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	1.000	T
CCDC170	80129	genome.wustl.edu	37	6	151869573	151869573	+	Silent	SNP	A	A	G			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr6:151869573A>G	ENST00000239374.7	+	5	822	c.723A>G	c.(721-723)agA>agG	p.R241R	CCDC170_ENST00000367290.5_Silent_p.R241R	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	241																	AAGTCAACAGAGAGCAGAAAA	0.423																																						dbGAP											0													54.0	53.0	53.0					6																	151869573		1936	4149	6085	-	-	-	SO:0001819	synonymous_variant	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.723A>G	6.37:g.151869573A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.R241	ENST00000239374.7	37	c.723	CCDS43515.1	6																																																																																			CCDC170	-	NULL	ENSG00000120262		0.423	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	47	0.00	0	A	NM_025059		151869573	151869573	+1	no_errors	ENST00000367290	ensembl	human	known	69_37n	silent	9	75.68	28	SNP	1.000	G
FLG2	388698	genome.wustl.edu	37	1	152329961	152329961	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr1:152329961T>A	ENST00000388718.5	-	3	373	c.301A>T	c.(301-303)Aag>Tag	p.K101*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	101					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCCTATGCTTCTTTGACCCT	0.423																																						dbGAP											0													116.0	100.0	105.0					1																	152329961		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.301A>T	1.37:g.152329961T>A	ENSP00000373370:p.Lys101*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4U1	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.K101*	ENST00000388718.5	37	c.301	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.089359	0.94149	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.62	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6035	9.8139	0.40840	0.0:0.0:0.2544:0.7456	.	.	.	.	X	101	.	ENSP00000373370:K101X	K	-	1	0	FLG2	150596585	0.704000	0.27836	0.998000	0.56505	0.861000	0.49209	0.500000	0.22562	2.148000	0.66965	0.455000	0.32223	AAG	FLG2	-	NULL	ENSG00000143520		0.423	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	79	0.00	0	T	NM_001014342		152329961	152329961	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	nonsense	76	29.63	32	SNP	0.993	A
FRG1B	284802	genome.wustl.edu	37	20	29612363	29612363	+	Intron	SNP	G	G	C	rs75773727	byFrequency	TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr20:29612363G>C	ENST00000278882.3	+	1	257				FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000468180.2_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCACGAGTTTGGGTCCCCTGA	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-124+250G>C	20.37:g.29612363G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.562	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	25	0.00	0	G	NR_003579		29612363	29612363	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	15	16.67	3	SNP	0.000	C
GALNTL6	442117	genome.wustl.edu	37	4	173150860	173150860	+	Silent	SNP	G	G	A			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr4:173150860G>A	ENST00000506823.1	+	3	849	c.192G>A	c.(190-192)ttG>ttA	p.L64L	GALNTL6_ENST00000508122.1_Silent_p.L47L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	64					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAGATGGTTTGAGAAGAAAGG	0.443																																						dbGAP											0													122.0	106.0	111.0					4																	173150860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.192G>A	4.37:g.173150860G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L64	ENST00000506823.1	37	c.192	CCDS34104.1	4																																																																																			GALNTL6	-	NULL	ENSG00000174473		0.443	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	137	0.00	0	G	NM_001034845		173150860	173150860	+1	no_errors	ENST00000506823	ensembl	human	known	69_37n	silent	36	46.27	31	SNP	1.000	A
HYAL2	8692	genome.wustl.edu	37	3	50357256	50357256	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr3:50357256C>A	ENST00000447092.1	-	1	2957	c.665G>T	c.(664-666)aGc>aTc	p.S222I	HYAL2_ENST00000357750.4_Missense_Mutation_p.S222I|HYAL2_ENST00000442581.1_Missense_Mutation_p.S222I|HYAL2_ENST00000395139.3_Missense_Mutation_p.S222I|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	222					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTGTGTAGCTCTCCCAGTT	0.597																																						dbGAP											0													42.0	45.0	44.0					3																	50357256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.665G>T	3.37:g.50357256C>A	ENSP00000401853:p.Ser222Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.S222I	ENST00000447092.1	37	c.665	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126601	0.20959	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.68	1.77	0.24775	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.291559	0.47455	D	0.000227	T	0.39332	0.1074	L	0.52759	1.655	0.37275	D	0.907583	P;B	0.36753	0.568;0.242	P;B	0.50049	0.629;0.424	T	0.39099	-0.9630	10	0.42905	T	0.14	-13.5881	11.9918	0.53180	0.0:0.3772:0.5486:0.0742	.	222;222	B3KRZ2;Q12891	.;HYAL2_HUMAN	I	222	ENSP00000401853:S222I;ENSP00000350387:S222I;ENSP00000378571:S222I;ENSP00000406657:S222I	ENSP00000350387:S222I	S	-	2	0	HYAL2	50332260	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	1.502000	0.35704	0.316000	0.23135	0.455000	0.32223	AGC	HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000068001		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	44	0.00	0	C	NM_003773		50357256	50357256	-1	no_errors	ENST00000357750	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.993	A
MACF1	23499	genome.wustl.edu	37	1	39797714	39797714	+	Silent	SNP	G	G	T	rs557894788		TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr1:39797714G>T	ENST00000372915.3	+	36	5556	c.5469G>T	c.(5467-5469)acG>acT	p.T1823T	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.T1855T|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.T258T|MACF1_ENST00000564288.1_Silent_p.T1818T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1823					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACTGTCACGGGGCAAAGGC	0.483																																						dbGAP											0													123.0	106.0	112.0					1																	39797714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5469G>T	1.37:g.39797714G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.T1855	ENST00000372915.3	37	c.5565		1																																																																																			MACF1	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat	ENSG00000127603		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	69	0.00	0	G	NM_033044		39797714	39797714	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	silent	33	10.81	4	SNP	0.976	T
MAN2B2	23324	genome.wustl.edu	37	4	6621677	6621677	+	Silent	SNP	C	C	T	rs147252633	byFrequency	TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr4:6621677C>T	ENST00000285599.3	+	18	2874	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	MAN2B2_ENST00000504248.1_Silent_p.S895S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	946					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CGCTGGGGTCCGTGGTGGCAG	0.652																																						dbGAP											0													50.0	55.0	53.0					4																	6621677		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2838C>T	4.37:g.6621677C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q66MP2|Q86T67	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S946	ENST00000285599.3	37	c.2838	CCDS33951.1	4																																																																																			MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000013288		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	29	0.00	0	C	NM_015274		6621677	6621677	+1	no_errors	ENST00000285599	ensembl	human	known	69_37n	silent	3	80.00	12	SNP	0.014	T
MAP3K13	9175	genome.wustl.edu	37	3	185190782	185190782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr3:185190782delG	ENST00000265026.3	+	11	1997	c.1663delG	c.(1663-1665)gaafs	p.E555fs	MAP3K13_ENST00000535426.1_Frame_Shift_Del_p.E411fs|MAP3K13_ENST00000446828.1_Frame_Shift_Del_p.E348fs|MAP3K13_ENST00000424227.1_Frame_Shift_Del_p.E555fs|MAP3K13_ENST00000443863.1_Frame_Shift_Del_p.E411fs	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTTGAGATCAGAAGGGATCCC	0.458																																						dbGAP											0													105.0	109.0	108.0					3																	185190782		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1663delG	3.37:g.185190782delG	ENSP00000265026:p.Glu555fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E555fs	ENST00000265026.3	37	c.1663	CCDS3270.1	3																																																																																			MAP3K13	-	pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom	ENSG00000073803		0.458	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	81	0.00	0	G	NM_004721		185190782	185190782	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	frame_shift_del	32	44.07	26	DEL	1.000	-
PHC3	80012	genome.wustl.edu	37	3	169847215	169847215	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr3:169847215T>C	ENST00000494943.1	-	8	1077	c.1009A>G	c.(1009-1011)Atc>Gtc	p.I337V	PHC3_ENST00000495893.2_Missense_Mutation_p.I349V|PHC3_ENST00000467570.1_Missense_Mutation_p.I296V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	337	Gln-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TGAAGTGTGATTGGCTGAATT	0.463																																						dbGAP											0													205.0	203.0	204.0					3																	169847215		2018	4181	6199	-	-	-	SO:0001583	missense	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1009A>G	3.37:g.169847215T>C	ENSP00000420271:p.Ile337Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.I349V	ENST00000494943.1	37	c.1045		3	.	.	.	.	.	.	.	.	.	.	T	4.479	0.088817	0.08583	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931	T;T	0.30448	1.53;1.53	5.35	0.00703	0.14069	.	0.390699	0.24662	N	0.036634	T	0.19644	0.0472	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.004;0.0;0.0	T	0.06463	-1.0825	10	0.25751	T	0.34	-3.7216	6.9553	0.24568	0.0:0.2182:0.1264:0.6554	.	296;296;337;349	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	V	337;349;296;175	ENSP00000420271:I337V;ENSP00000420294:I349V	ENSP00000419089:I296V	I	-	1	0	PHC3	171329909	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.312000	0.33574	0.332000	0.23536	-0.379000	0.06801	ATC	PHC3	-	NULL	ENSG00000173889		0.463	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	257	0.00	0	T	NM_024947		169847215	169847215	-1	no_errors	ENST00000495893	ensembl	human	known	69_37n	missense	158	30.70	70	SNP	0.986	C
POTEF	728378	genome.wustl.edu	37	2	130832873	130832873	+	Silent	SNP	G	G	A	rs62165872	byFrequency	TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr2:130832873G>A	ENST00000409914.2	-	17	2571	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	POTEF_ENST00000357462.5_Silent_p.D724D	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	724	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGGGGCATCGTCGCCCGCAA	0.592													.|||	130	0.0259585	0.0174	0.0331	5008	,	,		19488	0.0139		0.0437	False		,,,				2504	0.0266					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2172C>T	2.37:g.130832873G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC34	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D724	ENST00000409914.2	37	c.2172	CCDS46409.1	2																																																																																			POTEF	-	pfam_Actin-like,smart_Actin-like	ENSG00000196604		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	44	0.00	0	G	NM_001099771		130832873	130832873	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	1.000	A
RABL2B	11158	genome.wustl.edu	37	22	51215160	51215160	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr22:51215160G>T	ENST00000395598.3	-	4	366	c.155C>A	c.(154-156)tCc>tAc	p.S52Y	RABL2B_ENST00000395590.1_Missense_Mutation_p.S52Y|RABL2B_ENST00000435118.1_Missense_Mutation_p.S52Y|RABL2B_ENST00000395591.1_Missense_Mutation_p.S52Y|RABL2B_ENST00000395595.3_Missense_Mutation_p.S52Y|RABL2B_ENST00000395593.3_Missense_Mutation_p.S52Y|RABL2B_ENST00000354869.3_Missense_Mutation_p.S52Y	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	52					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GGCGTACGTGGACAGCTGCTG	0.537																																					GBM(148;358 1894 4987 13698 40400)	dbGAP											0													87.0	54.0	66.0					22																	51215160		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.155C>A	22.37:g.51215160G>T	ENSP00000378962:p.Ser52Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZT8|Q96C33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S52Y	ENST00000395598.3	37	c.155	CCDS14102.1	22	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092402	0.55968	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395591;ENST00000395595;ENST00000395590	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.2	3.23	3.23	0.37069	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.93783	0.7085	10	0.87932	D	0	-1.5759	12.2973	0.54854	0.0:0.0:1.0:0.0	.	52;52;52	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	Y	52	ENSP00000401906:S52Y;ENSP00000346940:S52Y;ENSP00000378958:S52Y;ENSP00000378962:S52Y;ENSP00000378956:S52Y;ENSP00000378960:S52Y;ENSP00000378955:S52Y	ENSP00000346940:S52Y	S	-	2	0	RABL2B	49562026	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	8.168000	0.89670	1.836000	0.53414	0.305000	0.20034	TCC	RABL2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000079974		0.537	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	138	0.00	0	G	NM_001003789		51215160	51215160	-1	no_errors	ENST00000354869	ensembl	human	known	69_37n	missense	52	48.51	49	SNP	1.000	T
ROS1	6098	genome.wustl.edu	37	6	117658378	117658378	+	Silent	SNP	C	C	T	rs146280016		TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr6:117658378C>T	ENST00000368508.3	-	31	5403	c.5205G>A	c.(5203-5205)acG>acA	p.T1735T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.T1729T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1735	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1735T(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TATTTTCTCCCGTCTTATAAA	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	2	Substitution - coding silent(2)	lung(2)											137.0	132.0	134.0					6																	117658378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5205G>A	6.37:g.117658378C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.T1735	ENST00000368508.3	37	c.5205	CCDS5116.1	6																																																																																			ROS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000047936		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	150	0.66	1	C			117658378	117658378	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	silent	47	64.93	87	SNP	0.967	T
SKOR1	390598	genome.wustl.edu	37	15	68124619	68124619	+	Silent	SNP	G	G	A			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr15:68124619G>A	ENST00000380035.2	+	6	2653	c.2595G>A	c.(2593-2595)ttG>ttA	p.L865L	SKOR1_ENST00000341418.5_Silent_p.L768L|SKOR1_ENST00000389002.1_Silent_p.L821L|RP11-34F13.2_ENST00000502156.1_lincRNA|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554054.1_Silent_p.L837L|SKOR1_ENST00000554240.1_Silent_p.L826L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	865					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CAGAGGAATTGCAAAAACTGC	0.512											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													142.0	149.0	147.0					15																	68124619		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2595G>A	15.37:g.68124619G>A		Somatic	1104	WXS	Illumina GAIIx	Phase_IV	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.L865	ENST00000380035.2	37	c.2595		15																																																																																			SKOR1	-	NULL	ENSG00000188779		0.512	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	109	0.00	0	G	NM_001031807		68124619	68124619	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	silent	24	35.14	13	SNP	1.000	A
SLC2A13	114134	genome.wustl.edu	37	12	40223928	40223928	+	Silent	SNP	A	A	G			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr12:40223928A>G	ENST00000280871.4	-	7	1472	c.1422T>C	c.(1420-1422)tcT>tcC	p.S474S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	474					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCTCATTTGTAGATGCTTTAT	0.373										HNSCC(50;0.14)																												dbGAP											0													104.0	100.0	101.0					12																	40223928		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1422T>C	12.37:g.40223928A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S07	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S474	ENST00000280871.4	37	c.1422	CCDS8736.2	12																																																																																			SLC2A13	-	superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,pfscan_MFS_dom	ENSG00000151229		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	94	0.00	0	A			40223928	40223928	-1	no_errors	ENST00000280871	ensembl	human	known	69_37n	silent	66	32.65	32	SNP	0.721	G
SPTA1	6708	genome.wustl.edu	37	1	158590173	158590173	+	Silent	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr1:158590173C>T	ENST00000368147.4	-	44	6384	c.6204G>A	c.(6202-6204)gaG>gaA	p.E2068E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2068					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTGCACAGGCTCTGACAAGT	0.468																																						dbGAP											0													84.0	78.0	80.0					1																	158590173		1924	4149	6073	-	-	-	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6204G>A	1.37:g.158590173C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E2068	ENST00000368147.4	37	c.6204	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	82	0.00	0	C	NM_003126		158590173	158590173	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	silent	74	28.85	30	SNP	0.982	T
ST8SIA6	338596	genome.wustl.edu	37	10	17373535	17373535	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr10:17373535A>T	ENST00000377602.4	-	5	468	c.394T>A	c.(394-396)Tgc>Agc	p.C132S		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	132					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GCATCACAGCAGGAAGCAAGT	0.398																																						dbGAP											0													77.0	76.0	76.0					10																	17373535		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.394T>A	10.37:g.17373535A>T	ENSP00000366827:p.Cys132Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.C132S	ENST00000377602.4	37	c.394	CCDS31158.1	10	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088107	0.76642	.	.	ENSG00000148488	ENST00000377602	T	0.23754	1.89	4.77	4.77	0.60923	.	0.183704	0.64402	D	0.000017	T	0.47021	0.1423	M	0.63843	1.955	0.58432	D	0.999994	D	0.76494	0.999	D	0.78314	0.991	T	0.36939	-0.9727	10	0.38643	T	0.18	-16.96	14.7609	0.69604	1.0:0.0:0.0:0.0	.	132	P61647	SIA8F_HUMAN	S	132	ENSP00000366827:C132S	ENSP00000366827:C132S	C	-	1	0	ST8SIA6	17413541	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.684000	0.68197	2.124000	0.65301	0.533000	0.62120	TGC	ST8SIA6	-	pirsf_Sialyl_trans	ENSG00000148488		0.398	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA6	HGNC	protein_coding	OTTHUMT00000047036.1	111	0.00	0	A	NM_001004470		17373535	17373535	-1	no_errors	ENST00000377602	ensembl	human	known	69_37n	missense	139	24.46	45	SNP	1.000	T
SYT3	84258	genome.wustl.edu	37	19	51132704	51132704	+	Silent	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr19:51132704C>T	ENST00000338916.4	-	4	1761	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	SYT3_ENST00000600079.1_Silent_p.E376E|SYT3_ENST00000544769.1_Silent_p.E376E|SYT3_ENST00000593901.1_Silent_p.E376E	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	376	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTTGGGCCAGCTCGGCCAGGG	0.607																																						dbGAP											0													95.0	99.0	97.0					19																	51132704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1128G>A	19.37:g.51132704C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.E376	ENST00000338916.4	37	c.1128	CCDS12798.1	19																																																																																			SYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	ENSG00000213023		0.607	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	57	0.00	0	C	NM_032298		51132704	51132704	-1	no_errors	ENST00000338916	ensembl	human	known	69_37n	silent	37	41.27	26	SNP	1.000	T
TTC21A	199223	genome.wustl.edu	37	3	39174599	39174599	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr3:39174599G>A	ENST00000431162.2	+	20	2774	c.2640G>A	c.(2638-2640)atG>atA	p.M880I	TTC21A_ENST00000440121.1_Missense_Mutation_p.M832I|TTC21A_ENST00000301819.6_Missense_Mutation_p.M881I|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	880										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AACCAGAAATGATTCCCTCCC	0.507																																						dbGAP											0													91.0	90.0	90.0					3																	39174599		1928	4152	6080	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2640G>A	3.37:g.39174599G>A	ENSP00000398211:p.Met880Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M881I	ENST00000431162.2	37	c.2643	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497407	0.26861	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.60171	0.21;0.21;0.33	4.22	2.36	0.29203	Tetratricopeptide repeat-containing (1);	0.571697	0.18397	N	0.142475	T	0.42449	0.1203	L	0.34521	1.04	0.26789	N	0.969442	B;B;B;B	0.14805	0.011;0.0;0.001;0.001	B;B;B;B	0.12837	0.008;0.002;0.004;0.002	T	0.24119	-1.0169	10	0.21540	T	0.41	-12.9597	10.2297	0.43247	0.0:0.1482:0.6981:0.1537	.	1;832;881;880	B4DSJ5;Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;.;TT21A_HUMAN	I	881;863;880;832	ENSP00000301819:M881I;ENSP00000398211:M880I;ENSP00000410882:M832I	ENSP00000301819:M881I	M	+	3	0	TTC21A	39149603	0.015000	0.18098	0.995000	0.50966	0.901000	0.52897	0.082000	0.14847	0.677000	0.31305	-0.182000	0.12963	ATG	TTC21A	-	pfscan_TPR-contain_dom	ENSG00000168026		0.507	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	65	0.00	0	G	NM_145755		39174599	39174599	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	21	61.11	33	SNP	0.998	A
TTC28	23331	genome.wustl.edu	37	22	28494912	28494912	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr22:28494912C>T	ENST00000397906.2	-	10	3679	c.3538G>A	c.(3538-3540)Gtc>Atc	p.V1180I		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1180					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CCTAGGCTGACGAGCACCCGC	0.552																																						dbGAP											0													112.0	103.0	106.0					22																	28494912		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.3538G>A	22.37:g.28494912C>T	ENSP00000381003:p.Val1180Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1180I	ENST00000397906.2	37	c.3538	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114950	0.56505	.	.	ENSG00000100154	ENST00000397906	D	0.89050	-2.46	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	L	0.28014	0.82	0.58432	D	0.999999	B	0.28933	0.228	B	0.27796	0.083	T	0.76639	-0.2885	10	0.23891	T	0.37	-37.6213	12.4803	0.55837	0.0:0.9241:0.0:0.0759	.	1180	Q96AY4	TTC28_HUMAN	I	1180	ENSP00000381003:V1180I	ENSP00000381003:V1180I	V	-	1	0	TTC28	26824912	1.000000	0.71417	0.998000	0.56505	0.748000	0.42578	5.603000	0.67619	2.784000	0.95788	0.655000	0.94253	GTC	TTC28	-	NULL	ENSG00000100154		0.552	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	85	0.00	0	C	XM_929318		28494912	28494912	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	missense	24	64.71	44	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54590048	54590048	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr15:54590048G>A	ENST00000260323.11	+	11	4028	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1343Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1341Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1343					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGCCATACGATTGAAAATC	0.343																																						dbGAP											0													72.0	70.0	71.0					15																	54590048		1853	4084	5937	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4028G>A	15.37:g.54590048G>A	ENSP00000260323:p.Arg1343Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1343Q	ENST00000260323.11	37	c.4028	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.594514	0.96602	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.71579	-0.58;-0.58;-0.58	5.59	5.59	0.84812	C2 calcium/lipid-binding domain, CaLB (1);	0.169417	0.49916	D	0.000125	D	0.85609	0.5736	M	0.83483	2.645	0.58432	D	0.999996	P;D	0.89917	0.955;1.0	B;D	0.75020	0.422;0.985	D	0.87040	0.2140	10	0.66056	D	0.02	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	1343;1343	F5H090;Q8NB66	.;UN13C_HUMAN	Q	1343;1343;1341	ENSP00000260323:R1343Q;ENSP00000438156:R1343Q;ENSP00000442569:R1341Q	ENSP00000260323:R1343Q	R	+	2	0	UNC13C	52377340	1.000000	0.71417	0.803000	0.32268	0.981000	0.71138	9.813000	0.99286	2.605000	0.88082	0.650000	0.86243	CGA	UNC13C	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000137766		0.343	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	85	0.00	0	G	NM_173166		54590048	54590048	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.978	A
URM1	81605	genome.wustl.edu	37	9	131151719	131151720	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr9:131151719_131151720GG>CT	ENST00000452446.1	+	4	430_431	c.368_369GG>CT	c.(367-369)aGG>aCT	p.R123T	URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_3'UTR|URM1_ENST00000372853.4_Intron|RP11-339B21.11_ENST00000609303.1_lincRNA	NM_001135947.2	NP_001129419.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CCCACACTGAGGCTGCTGGAGT	0.589																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	Exception_encountered	9.37:g.131151719_131151720delinsCT	ENSP00000412922:p.Arg123Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b	p.R123T|p.R123S	ENST00000452446.1	37	c.368|c.369	CCDS48035.1	9																																																																																			URM1	-	NULL	ENSG00000167118		0.589	URM1-201	KNOWN	basic|CCDS	protein_coding	URM1	HGNC	protein_coding		31	0.00	0	G	NM_030914		131151719|131151720	131151719|131151720	+1	no_errors	ENST00000452446	ensembl	human	known	69_37n	missense	16|17	32.00	8	SNP	0.001|0.000	C|T
ZNF614	80110	genome.wustl.edu	37	19	52521732	52521732	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr19:52521732C>T	ENST00000270649.6	-	3	575	c.31G>A	c.(31-33)Gag>Aag	p.E11K	ZNF614_ENST00000356322.6_Missense_Mutation_p.E11K	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCCACATCCTCCAGGGTCAGT	0.398																																						dbGAP											0													85.0	83.0	84.0					19																	52521732		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.31G>A	19.37:g.52521732C>T	ENSP00000270649:p.Glu11Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E11K	ENST00000270649.6	37	c.31	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869394	0.32977	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.01685	4.69;4.69	3.23	2.19	0.27852	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.33792	1.035	0.21105	N	0.999781	D;B	0.53312	0.959;0.392	P;B	0.55508	0.777;0.241	T	0.36915	-0.9728	9	0.07990	T	0.79	.	8.0421	0.30527	0.0:0.8693:0.0:0.1307	.	11;11	Q8N883;Q9BSN8	ZN614_HUMAN;.	K	11	ENSP00000348674:E11K;ENSP00000270649:E11K	ENSP00000270649:E11K	E	-	1	0	ZNF614	57213544	0.022000	0.18835	0.599000	0.28851	0.778000	0.44026	0.726000	0.25984	1.798000	0.52647	0.591000	0.81541	GAG	ZNF614	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142556		0.398	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1	90	0.00	0	C	NM_025040		52521732	52521732	-1	no_errors	ENST00000270649	ensembl	human	known	69_37n	missense	71	34.26	37	SNP	0.631	T
ZNF749	388567	genome.wustl.edu	37	19	57956839	57956839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XU-01A-11D-A14K-09	TCGA-D8-A1XU-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55c547ee-7cc9-4b7a-aaca-22f2a8c8c3a4	fd7947df-6e44-4e50-9fe7-e16b0ddc3eb5	g.chr19:57956839G>T	ENST00000334181.4	+	3	2573	c.2323G>T	c.(2323-2325)Gga>Tga	p.G775*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	775					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AATTCATACTGGAAAAAGGCC	0.398																																						dbGAP											0													73.0	78.0	76.0					19																	57956839		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2323G>T	19.37:g.57956839G>T	ENSP00000333980:p.Gly775*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G775*	ENST00000334181.4	37	c.2323	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	-	32	5.161065	0.94727	.	.	ENSG00000186230	ENST00000334181	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999897	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.6144	0.45441	0.0:0.0:1.0:0.0	.	.	.	.	X	775	.	ENSP00000333980:G775X	G	+	1	0	ZNF749	62648651	0.999000	0.42202	0.004000	0.12327	0.007000	0.05969	7.548000	0.82154	1.143000	0.42306	0.205000	0.17691	GGA	ZNF749	-	pfscan_Znf_C2H2	ENSG00000186230		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	43	0.00	0	G	NM_001023561		57956839	57956839	+1	no_errors	ENST00000334181	ensembl	human	known	69_37n	nonsense	32	11.11	4	SNP	0.839	T
