#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANKRD61	100310846	genome.wustl.edu	37	7	6075930	6075930	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr7:6075930G>T	ENST00000409061.1	+	3	1170	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	EIF2AK1_ENST00000536084.1_Intron|EIF2AK1_ENST00000199389.6_Intron	NM_001271700.1	NP_001258629.1	A6NGH8	ANR61_HUMAN	ankyrin repeat domain 61	390																	TTTATGGTGAGAAATACAAAC	0.403																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS64590.1	7p22	2013-01-10			ENSG00000157999	ENSG00000157999		"""Ankyrin repeat domain containing"""	22467	protein-coding gene	gene with protein product							Standard	NM_001271700		Approved		uc031swn.1	A6NGH8	OTTHUMG00000154561	ENST00000409061.1:c.1170G>T	7.37:g.6075930G>T	ENSP00000386502:p.Glu390Asp			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E390D	ENST00000409061.1	37	c.1170		7	.	.	.	.	.	.	.	.	.	.	.	14.05	2.419137	0.42918	.	.	ENSG00000157999	ENST00000409061	T	0.35421	1.31	5.64	3.54	0.40534	.	0.092503	0.46758	N	0.000261	T	0.37705	0.1013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30090	-0.9990	7	0.54805	T	0.06	-24.1954	3.024	0.06085	0.1952:0.3075:0.4973:0.0	.	.	.	.	D	390	ENSP00000386502:E390D	ENSP00000386502:E390D	E	+	3	2	ANKRD61	6042456	1.000000	0.71417	0.711000	0.30485	0.119000	0.20118	1.171000	0.31896	1.340000	0.45581	0.563000	0.77884	GAG	ANKRD61	-	NULL	ENSG00000157999		0.403	ANKRD61-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	ANKRD61	HGNC	protein_coding	OTTHUMT00000335991.1	73	0.00	0	G			6075930	6075930	+1	no_errors	ENST00000409061	ensembl	human	novel	69_37n	missense	33	13.16	5	SNP	0.957	T
ANO8	57719	genome.wustl.edu	37	19	17438641	17438641	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr19:17438641C>A	ENST00000159087.4	-	14	2433	c.2275G>T	c.(2275-2277)Gtg>Ttg	p.V759L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	759					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGAAGAGCACAACGTAGCCG	0.617																																						dbGAP											0													127.0	112.0	117.0					19																	17438641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2275G>T	19.37:g.17438641C>A	ENSP00000159087:p.Val759Leu		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.V759L	ENST00000159087.4	37	c.2275	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663515	0.67700	.	.	ENSG00000074855	ENST00000159087	T	0.65364	-0.15	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.64567	1.98	0.46521	D	0.999081	D	0.69078	0.997	D	0.80764	0.994	T	0.76329	-0.2999	10	0.45353	T	0.12	.	15.9256	0.79615	0.0:1.0:0.0:0.0	.	759	Q9HCE9	ANO8_HUMAN	L	759	ENSP00000159087:V759L	ENSP00000159087:V759L	V	-	1	0	ANO8	17299641	1.000000	0.71417	0.931000	0.37212	0.104000	0.19210	7.630000	0.83225	2.364000	0.80123	0.436000	0.28706	GTG	ANO8	-	pfam_Anoctamin	ENSG00000074855		0.617	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	55	0.00	0	C	XM_050644		17438641	17438641	-1	no_errors	ENST00000159087	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	1.000	A
ASPH	444	genome.wustl.edu	37	8	62588872	62588872	+	Intron	SNP	G	G	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr8:62588872G>C	ENST00000379454.4	-	3	510				ASPH_ENST00000517661.1_Missense_Mutation_p.T96S|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000379449.6_Missense_Mutation_p.T125S|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517903.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCCATCTTTGGTCAGGCCTAC	0.388																																						dbGAP											0													37.0	32.0	34.0					8																	62588872		1567	3580	5147	-	-	-	SO:0001627	intron_variant	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4654C>G	8.37:g.62588872G>C			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.T125S	ENST00000379454.4	37	c.374	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342901	0.61073	.	.	ENSG00000198363	ENST00000379449;ENST00000517661	T;T	0.52754	0.65;0.65	5.83	5.83	0.93111	.	.	.	.	.	T	0.46502	0.1396	N	0.19112	0.55	0.80722	D	1	B	0.30605	0.287	B	0.43360	0.417	T	0.31806	-0.9930	9	0.25751	T	0.34	.	19.7478	0.96258	0.0:0.0:1.0:0.0	.	125	Q6NXR7	.	S	125;96	ENSP00000368762:T125S;ENSP00000428060:T96S	ENSP00000368762:T125S	T	-	2	0	ASPH	62751426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.763000	0.94921	0.563000	0.77884	ACC	ASPH	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000198363		0.388	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	25	0.00	0	G	NM_004318		62588872	62588872	-1	no_errors	ENST00000379449	ensembl	human	putative	69_37n	missense	13	27.78	5	SNP	1.000	C
ATP1A3	478	genome.wustl.edu	37	19	42473007	42473007	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr19:42473007C>T	ENST00000302102.5	-	20	2899	c.2749G>A	c.(2749-2751)Gtt>Att	p.V917I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V887I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V928I|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V930I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	917					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGGACGACAACGATGCTCACA	0.602																																						dbGAP											0													141.0	102.0	115.0					19																	42473007		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2749G>A	19.37:g.42473007C>T	ENSP00000302397:p.Val917Ile		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V930I	ENST00000302102.5	37	c.2788	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901836	0.72754	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	3.45	3.45	0.39498	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.151373	0.42420	D	0.000718	D	0.97436	0.9161	M	0.81497	2.545	0.80722	D	1	D;P;D;P	0.60575	0.988;0.798;0.988;0.832	P;P;P;P	0.62435	0.684;0.612;0.902;0.732	D	0.97549	1.0091	10	0.62326	D	0.03	.	12.7965	0.57562	0.0:1.0:0.0:0.0	.	930;928;917;917	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	917;917;930;887;661;928	ENSP00000302397:V917I;ENSP00000411503:V917I;ENSP00000444688:V930I;ENSP00000437577:V928I	ENSP00000302397:V917I	V	-	1	0	ATP1A3	47164847	1.000000	0.71417	0.996000	0.52242	0.333000	0.28666	5.933000	0.70130	1.960000	0.56953	0.462000	0.41574	GTT	ATP1A3	-	pfam_ATPase_P-typ_cation-transptr_C,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105409		0.602	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	72	0.00	0	C	NM_152296		42473007	42473007	-1	no_errors	ENST00000545399	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	1.000	T
ATP6V1B2	526	genome.wustl.edu	37	8	20061994	20061994	+	Splice_Site	SNP	G	G	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr8:20061994G>T	ENST00000276390.2	+	2	176		c.e2-1			NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TTTCTTTCCAGCATACAAGAC	0.338																																					Pancreas(119;1230 1726 3901 4036 31644)	dbGAP											0													162.0	133.0	143.0					8																	20061994		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.137-1G>T	8.37:g.20061994G>T			B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Splice_Site	SNP	-	e2-1	ENST00000276390.2	37	c.137-1	CCDS6014.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527874	0.85706	.	.	ENSG00000147416	ENST00000276390;ENST00000519667	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.68	0.91544	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V1B2	20106274	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.057000	0.93889	2.757000	0.94681	0.563000	0.77884	.	ATP6V1B2	-	-	ENSG00000147416		0.338	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B2	HGNC	protein_coding	OTTHUMT00000253732.1	79	0.00	0	G	NM_001693	Intron	20061994	20061994	+1	no_errors	ENST00000276390	ensembl	human	known	69_37n	splice_site	34	10.26	4	SNP	1.000	T
AUTS2	26053	genome.wustl.edu	37	7	70255577	70255579	+	In_Frame_Del	DEL	CCA	CCA	-	rs35604576|rs375018695		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr7:70255577_70255579delCCA	ENST00000342771.4	+	19	3696_3698	c.3375_3377delCCA	c.(3373-3378)agccac>agc	p.H1133del	AUTS2_ENST00000406775.2_In_Frame_Del_p.H1109del	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1133	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGACTACAGccaccaccaccac	0.68																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3375_3377delCCA	7.37:g.70255586_70255588delCCA	ENSP00000344087:p.His1133del		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	In_Frame_Del	DEL	prints_AUTS2	p.H1129in_frame_del	ENST00000342771.4	37	c.3375_3377	CCDS5539.1	7																																																																																			AUTS2	-	NULL	ENSG00000158321		0.680	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	31	0.00	0	CCA			70255577	70255579	+1	no_errors	ENST00000342771	ensembl	human	known	69_37n	in_frame_del	22	15.38	4	DEL	1.000:1.000:1.000	-
BARX2	8538	genome.wustl.edu	37	11	129306670	129306670	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr11:129306670C>T	ENST00000281437.4	+	2	308	c.212C>T	c.(211-213)cCg>cTg	p.P71L	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	71					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CGGGCATATCCGCTCCTCTCG	0.672																																						dbGAP											0													111.0	113.0	112.0					11																	129306670		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.212C>T	11.37:g.129306670C>T	ENSP00000281437:p.Pro71Leu		O43518|Q6NT51	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.P71L	ENST00000281437.4	37	c.212	CCDS8481.1	11	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983402	0.93044	.	.	ENSG00000043039	ENST00000281437	D	0.91295	-2.82	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93530	0.6869	10	0.62326	D	0.03	.	18.2552	0.90017	0.0:1.0:0.0:0.0	.	71	Q9UMQ3	BARX2_HUMAN	L	71	ENSP00000281437:P71L	ENSP00000281437:P71L	P	+	2	0	BARX2	128811880	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.441000	0.80485	2.644000	0.89710	0.563000	0.77884	CCG	BARX2	-	NULL	ENSG00000043039		0.672	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX2	HGNC	protein_coding	OTTHUMT00000386153.1	116	0.00	0	C	NM_003658		129306670	129306670	+1	no_errors	ENST00000281437	ensembl	human	known	69_37n	missense	85	17.48	18	SNP	1.000	T
BRCA1	672	genome.wustl.edu	37	17	41246452	41246452	+	Missense_Mutation	SNP	C	C	T	rs80359875		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr17:41246452C>T	ENST00000357654.3	-	10	1214	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.D70N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.D366N|BRCA1_ENST00000354071.3_Missense_Mutation_p.D366N|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.D366N|BRCA1_ENST00000493795.1_Missense_Mutation_p.D319N|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	366					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCAGTATCTCTAGGATTC	0.408			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													220.0	204.0	210.0					17																	41246452		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1096G>A	17.37:g.41246452C>T	ENSP00000350283:p.Asp366Asn		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING	p.D366N	ENST00000357654.3	37	c.1096	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	4.673	0.125226	0.08931	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.85	0.704	0.18121	.	0.629622	0.15088	N	0.281236	D	0.91178	0.7221	M	0.66439	2.03	0.09310	N	1	B;B;P;P;P;B	0.47841	0.035;0.035;0.536;0.887;0.901;0.357	B;B;P;P;P;B	0.57548	0.018;0.018;0.549;0.823;0.549;0.219	T	0.81433	-0.0935	10	0.31617	T	0.26	.	5.647	0.17594	0.0:0.485:0.1358:0.3792	.	366;325;366;366;366;366	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	N	366;366;366;366;70;366;319;366;340;70;366	ENSP00000350283:D366N;ENSP00000326002:D366N;ENSP00000246907:D366N;ENSP00000310938:D70N;ENSP00000418960:D366N;ENSP00000418775:D319N;ENSP00000419274:D366N;ENSP00000419988:D340N;ENSP00000418986:D70N;ENSP00000419103:D366N	ENSP00000310938:D70N	D	-	1	0	BRCA1	38499978	0.004000	0.15560	0.006000	0.13384	0.014000	0.08584	0.731000	0.26058	0.349000	0.23975	0.655000	0.94253	GAT	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	72	0.00	0	C	NM_007294		41246452	41246452	-1	no_errors	ENST00000471181	ensembl	human	known	69_37n	missense	72	20.00	18	SNP	0.000	T
C6orf118	168090	genome.wustl.edu	37	6	165715422	165715422	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr6:165715422C>T	ENST00000230301.8	-	2	409	c.389G>A	c.(388-390)aGg>aAg	p.R130K	C6orf118_ENST00000543069.1_Missense_Mutation_p.R26K	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	130										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTTCAGGTACCTGAACAGCGG	0.622																																						dbGAP											0													68.0	74.0	72.0					6																	165715422		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.389G>A	6.37:g.165715422C>T	ENSP00000230301:p.Arg130Lys		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.R130K	ENST00000230301.8	37	c.389	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726805	0.30593	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14640	2.6;2.49	4.79	3.65	0.41850	.	0.382381	0.25275	N	0.031857	T	0.12050	0.0293	L	0.39245	1.2	0.23266	N	0.998019	D	0.71674	0.998	D	0.77557	0.99	T	0.10291	-1.0636	10	0.25106	T	0.35	-25.2445	8.3676	0.32395	0.0:0.8457:0.0:0.1543	.	130	Q5T5N4	CF118_HUMAN	K	130;26	ENSP00000230301:R130K;ENSP00000439288:R26K	ENSP00000230301:R130K	R	-	2	0	C6orf118	165635412	0.032000	0.19561	0.564000	0.28396	0.038000	0.13279	0.216000	0.17585	2.347000	0.79759	0.655000	0.94253	AGG	C6orf118	-	NULL	ENSG00000112539		0.622	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	50	0.00	0	C	NM_144980		165715422	165715422	-1	no_errors	ENST00000230301	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.728	T
C9orf3	84909	genome.wustl.edu	37	9	97522585	97522585	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr9:97522585C>T	ENST00000375315.2	+	1	520	c.520C>T	c.(520-522)Cct>Tct	p.P174S	C9orf3_ENST00000277198.2_Missense_Mutation_p.P174S|C9orf3_ENST00000297979.5_Missense_Mutation_p.P174S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	174					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TACAAGGTCTCCTGAGCTCAC	0.453																																						dbGAP											0													123.0	119.0	121.0					9																	97522585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.520C>T	9.37:g.97522585C>T	ENSP00000364464:p.Pro174Ser		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.P174S	ENST00000375315.2	37	c.520	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	C	6.993	0.553286	0.13374	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193	T;T;T;T	0.21031	2.83;2.82;3.02;2.03	4.82	1.79	0.24919	.	0.503220	0.19843	N	0.104817	T	0.12518	0.0304	L	0.39898	1.24	0.80722	D	1	B;B;B;B	0.30236	0.001;0.274;0.004;0.012	B;B;B;B	0.19391	0.001;0.025;0.005;0.003	T	0.11275	-1.0594	10	0.25751	T	0.34	-6.5658	5.1604	0.15058	0.0:0.4925:0.2342:0.2733	.	174;174;174;174	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	S	174;174;174;48	ENSP00000277198:P174S;ENSP00000297979:P174S;ENSP00000364464:P174S;ENSP00000387736:P48S	ENSP00000277198:P174S	P	+	1	0	C9orf3	96562406	0.872000	0.30054	0.996000	0.52242	0.932000	0.56968	1.085000	0.30840	0.747000	0.32809	0.563000	0.77884	CCT	C9orf3	-	NULL	ENSG00000148120		0.453	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		47	0.00	0	C	NM_032823		97522585	97522585	+1	no_errors	ENST00000375315	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.938	T
CDH23	64072	genome.wustl.edu	37	10	73537524	73537524	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr10:73537524G>C	ENST00000224721.6	+	38	4953	c.4948G>C	c.(4948-4950)Gag>Cag	p.E1650Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1645	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCTGCTGGATGAGGGCCCAGA	0.582																																						dbGAP											0													55.0	56.0	56.0					10																	73537524		2145	4252	6397	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4948G>C	10.37:g.73537524G>C	ENSP00000224721:p.Glu1650Gln		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1648Q	ENST00000224721.6	37	c.4942		10	.	.	.	.	.	.	.	.	.	.	G	34	5.322220	0.95708	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.76	5.76	0.90799	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93164	0.6560	9	0.72032	D	0.01	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	1645	Q9H251	CAD23_HUMAN	Q	1650;1645;1648	.	ENSP00000224721:E1650Q	E	+	1	0	CDH23	73207530	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	9.827000	0.99397	2.736000	0.93811	0.655000	0.94253	GAG	CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000107736		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	55	0.00	0	G	NM_052836		73537524	73537524	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	1.000	C
CLEC18C	283971	genome.wustl.edu	37	16	70208416	70208416	+	Intron	SNP	G	G	C	rs62052567		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr16:70208416G>C	ENST00000569347.2	+	1	378				CLEC18C_ENST00000536907.2_Intron|CLEC18C_ENST00000561612.1_3'UTR|CLEC18C_ENST00000314151.8_Intron|RP11-296I10.3_ENST00000502126.1_RNA|CLEC18C_ENST00000541793.2_Intron|RP11-296I10.3_ENST00000566989.1_RNA	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C							extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						CAGGCCGTGCGGGTGGTTTAA	0.652																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.124+111G>C	16.37:g.70208416G>C			Q8IUW8	RNA	SNP	-	NULL	ENST00000569347.2	37	NULL	CCDS32473.1	16																																																																																			CLEC18C	-	-	ENSG00000157335		0.652	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18C	HGNC	protein_coding	OTTHUMT00000434588.2	10	0.00	0	G	NM_173619		70208416	70208416	+1	no_errors	ENST00000561612	ensembl	human	known	69_37n	rna	5	37.50	3	SNP	0.002	C
CLRN3	119467	genome.wustl.edu	37	10	129676427	129676427	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr10:129676427C>T	ENST00000368671.3	-	3	829	c.667G>A	c.(667-669)Gga>Aga	p.G223R		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	223						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AATAAAATTCCGTCCCTTGGA	0.418																																						dbGAP											0													123.0	117.0	119.0					10																	129676427		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.667G>A	10.37:g.129676427C>T	ENSP00000357660:p.Gly223Arg		Q6MZX8	Missense_Mutation	SNP	NULL	p.G223R	ENST00000368671.3	37	c.667	CCDS7656.1	10	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680409	0.47886	.	.	ENSG00000180745	ENST00000368671	T	0.76968	-1.06	4.72	4.72	0.59763	.	0.283441	0.31082	N	0.008285	T	0.81059	0.4744	L	0.27053	0.805	0.40075	D	0.976068	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.83025	-0.0165	10	0.52906	T	0.07	.	15.6752	0.77311	0.0:1.0:0.0:0.0	.	223;155	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	R	223	ENSP00000357660:G223R	ENSP00000357660:G223R	G	-	1	0	CLRN3	129566417	0.284000	0.24287	0.837000	0.33122	0.071000	0.16799	2.916000	0.48813	2.440000	0.82611	0.650000	0.86243	GGA	CLRN3	-	NULL	ENSG00000180745		0.418	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN3	HGNC	protein_coding	OTTHUMT00000050987.1	97	0.00	0	C	NM_152311		129676427	129676427	-1	no_errors	ENST00000368671	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	0.991	T
CMYA5	202333	genome.wustl.edu	37	5	79027410	79027410	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr5:79027410A>T	ENST00000446378.2	+	2	2853	c.2822A>T	c.(2821-2823)gAc>gTc	p.D941V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	941					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATCAAGAAGACATTGGACCT	0.413																																						dbGAP											0													117.0	111.0	113.0					5																	79027410		1873	4114	5987	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2822A>T	5.37:g.79027410A>T	ENSP00000394770:p.Asp941Val		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.D941V	ENST00000446378.2	37	c.2822	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462631	0.63513	.	.	ENSG00000164309	ENST00000446378	T	0.44881	0.91	5.87	5.87	0.94306	.	0.523539	0.17463	N	0.173371	T	0.63757	0.2538	M	0.78637	2.42	0.40556	D	0.981166	D	0.76494	0.999	D	0.73380	0.98	T	0.67565	-0.5638	10	0.72032	D	0.01	.	10.6122	0.45429	0.8568:0.0:0.0:0.1432	.	941	Q8N3K9	CMYA5_HUMAN	V	941	ENSP00000394770:D941V	ENSP00000394770:D941V	D	+	2	0	CMYA5	79063166	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	5.287000	0.65645	2.253000	0.74438	0.533000	0.62120	GAC	CMYA5	-	NULL	ENSG00000164309		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	42	0.00	0	A	NM_153610		79027410	79027410	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.995	T
CTSC	1075	genome.wustl.edu	37	11	88033799	88033799	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr11:88033799G>A	ENST00000227266.5	-	5	770	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	219					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAGTCAGTGGTGCAGGTTT	0.358																																						dbGAP											0													114.0	113.0	113.0					11																	88033799		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.656C>T	11.37:g.88033799G>A	ENSP00000227266:p.Pro219Leu		A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.P219L	ENST00000227266.5	37	c.656	CCDS8282.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.433146|2.433146	0.43224|0.43224	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000527018|ENST00000393302;ENST00000227266	.|D	.|0.83163	.|-1.69	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.402652	.|0.28595	.|N	.|0.014798	D|D	0.87099|0.87099	0.6093|0.6093	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|B;P	.|0.47034	.|0.102;0.889	.|B;P	.|0.45343	.|0.133;0.477	D|D	0.88055|0.88055	0.2790|0.2790	5|9	.|.	.|.	.|.	.|.	18.952|18.952	0.92644|0.92644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|202;219	.|B4DJQ8;P53634	.|.;CATC_HUMAN	Y|L	176|202;219	.|ENSP00000227266:P219L	.|.	H|P	-|-	1|2	0|0	CTSC|CTSC	87673447|87673447	1.000000|1.000000	0.71417|0.71417	0.304000|0.304000	0.25085|0.25085	0.037000|0.037000	0.13140|0.13140	7.191000|7.191000	0.77763|0.77763	2.488000|2.488000	0.83962|0.83962	0.650000|0.650000	0.86243|0.86243	CAC|CCA	CTSC	-	NULL	ENSG00000109861		0.358	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSC	HGNC	protein_coding	OTTHUMT00000394019.2	30	0.00	0	G	NM_001814		88033799	88033799	-1	no_errors	ENST00000227266	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.962	A
DCLRE1B	64858	genome.wustl.edu	37	1	114455907	114455907	+	3'UTR	SNP	G	G	A	rs6674384	byFrequency	TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr1:114455907G>A	ENST00000369563.3	+	0	3139				DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCTGGGCGTCTGGATCAA	0.483								Other identified genes with known or suspected DNA repair function					A|||	1250	0.249601	0.3374	0.2219	5008	,	,		19091	0.244		0.2545	False		,,,				2504	0.1513					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.*1094G>A	1.37:g.114455907G>A			Q9H9E5	RNA	SNP	-	NULL	ENST00000369563.3	37	NULL	CCDS866.1	1																																																																																			DCLRE1B	-	-	ENSG00000118655		0.483	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	33	0.00	0	G	NM_022836		114455907	114455907	+1	no_errors	ENST00000466480	ensembl	human	known	69_37n	rna	26	23.53	8	SNP	0.002	A
DCLRE1B	64858	genome.wustl.edu	37	1	114456169	114456169	+	3'UTR	SNP	G	G	A	rs72996202	byFrequency	TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr1:114456169G>A	ENST00000369563.3	+	0	3401				DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		gctcgaatctgtggcaccctg	0.458								Other identified genes with known or suspected DNA repair function					G|||	22	0.00439297	0.0166	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.*1356G>A	1.37:g.114456169G>A			Q9H9E5	RNA	SNP	-	NULL	ENST00000369563.3	37	NULL	CCDS866.1	1																																																																																			DCLRE1B	-	-	ENSG00000118655		0.458	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	92	0.00	0	G	NM_022836		114456169	114456169	+1	no_errors	ENST00000466480	ensembl	human	known	69_37n	rna	57	10.94	7	SNP	0.037	A
DDX26B	203522	genome.wustl.edu	37	X	134711194	134711194	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chrX:134711194G>A	ENST00000370752.4	+	14	2184	c.1850G>A	c.(1849-1851)aGt>aAt	p.S617N	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	617										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAACCCAACAGTCCTATGTCA	0.463																																						dbGAP											0													229.0	195.0	206.0					X																	134711194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1850G>A	X.37:g.134711194G>A	ENSP00000359788:p.Ser617Asn		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.S617N	ENST00000370752.4	37	c.1850	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372698	0.42003	.	.	ENSG00000165359	ENST00000370752	T	0.33654	1.4	5.2	0.923	0.19413	.	0.202030	0.52532	N	0.000070	T	0.16854	0.0405	N	0.22421	0.69	0.31484	N	0.666853	P;B	0.36616	0.561;0.417	B;B	0.32677	0.086;0.15	T	0.20538	-1.0272	10	0.18276	T	0.48	-1.8207	5.3286	0.15920	0.3233:0.3324:0.3444:0.0	.	617;617	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	N	617	ENSP00000359788:S617N	ENSP00000359788:S617N	S	+	2	0	DDX26B	134538860	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	1.376000	0.34306	0.166000	0.19597	0.600000	0.82982	AGT	DDX26B	-	NULL	ENSG00000165359		0.463	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	69	0.00	0	G	NM_182540		134711194	134711194	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.842	A
DIAPH3	81624	genome.wustl.edu	37	13	60544098	60544098	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr13:60544098G>A	ENST00000400324.4	-	17	2274	c.2054C>T	c.(2053-2055)aCa>aTa	p.T685I	DIAPH3_ENST00000400320.1_Missense_Mutation_p.T639I|DIAPH3_ENST00000400319.1_Missense_Mutation_p.T615I|DIAPH3_ENST00000267215.4_Missense_Mutation_p.T685I|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.T674I|DIAPH3_ENST00000400330.1_Missense_Mutation_p.T685I	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	685	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCAACAAAATGTATTCTCAAG	0.249																																						dbGAP											0													65.0	60.0	62.0					13																	60544098		1805	4061	5866	-	-	-	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2054C>T	13.37:g.60544098G>A	ENSP00000383178:p.Thr685Ile		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.T685I	ENST00000400324.4	37	c.2054	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679648	0.68042	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;2.37	4.58	3.73	0.42828	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.69142	0.3078	M	0.77486	2.375	0.39547	D	0.968903	B;P;P	0.41345	0.281;0.746;0.659	B;P;B	0.47044	0.122;0.535;0.191	T	0.72276	-0.4341	10	0.44086	T	0.13	.	13.144	0.59450	0.0785:0.0:0.9215:0.0	.	422;422;685	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	I	685;685;674;639;615;674;615;639;685;422;685	ENSP00000383178:T685I;ENSP00000383184:T685I;ENSP00000367141:T674I;ENSP00000383173:T615I;ENSP00000383174:T639I;ENSP00000267215:T685I	ENSP00000267214:T422I	T	-	2	0	DIAPH3	59442099	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	3.723000	0.54955	1.035000	0.39972	0.585000	0.79938	ACA	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000139734		0.249	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	21	0.00	0	G	NM_001042517		60544098	60544098	-1	no_errors	ENST00000400324	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	1.000	A
DOCK7	85440	genome.wustl.edu	37	1	62960016	62960016	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr1:62960016G>A	ENST00000340370.5	-	39	5071	c.5054C>T	c.(5053-5055)gCa>gTa	p.A1685V	DOCK7_ENST00000251157.5_Missense_Mutation_p.A1707V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1716	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGCAACAAGTGCTGCTGAGTG	0.463																																						dbGAP											0													109.0	84.0	92.0					1																	62960016		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5054C>T	1.37:g.62960016G>A	ENSP00000340742:p.Ala1685Val		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.A1707V	ENST00000340370.5	37	c.5120	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.186817	0.94923	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.01705	4.68;4.68	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;0.999	D;D;D;D;D;D	0.91635	0.987;0.996;0.999;0.997;0.945;0.99	T	0.00422	-1.1749	10	0.87932	D	0	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	1716;1707;1685;1676;1676;1707	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	V	1716;1707;1685;446	ENSP00000251157:A1707V;ENSP00000340742:A1685V	ENSP00000251157:A1707V	A	-	2	0	DOCK7	62732604	1.000000	0.71417	0.990000	0.47175	0.611000	0.37282	9.869000	0.99810	2.793000	0.96121	0.591000	0.81541	GCA	DOCK7	-	NULL	ENSG00000116641		0.463	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	59	0.00	0	G	NM_033407		62960016	62960016	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
EFCAB8	388795	genome.wustl.edu	37	20	31500663	31500663	+	IGR	SNP	C	C	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr20:31500663C>G								EFCAB8 (5984 upstream) : EFCAB8 (4202 downstream)																							GAGAATCACTCATTTCCTGTG	0.423																																						dbGAP											0													237.0	198.0	210.0					20																	31500663		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0																															20.37:g.31500663C>G				Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S40*		37	c.119		20	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467616	0.12402	.	.	ENSG00000215529	ENST00000439060	.	.	.	5.36	-1.45	0.08828	.	.	.	.	.	.	.	.	N	0.08118	0	0.22903	N	0.998581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735	0.08507	0.3942:0.292:0.0:0.3139	.	.	.	.	X	40	.	.	S	+	2	0	EFCAB8	30964324	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	0.056000	0.14256	-0.404000	0.07610	-0.459000	0.05422	TCA	EFCAB8	-	superfamily_WD40_repeat_dom	ENSG00000215529	0	0.423					EFCAB8	HGNC			130	0.00	0	C			31500663	31500663	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000439060	ensembl	human	putative	69_37n	nonsense	83	13.54	13	SNP	0.000	G
GABRA5	2558	genome.wustl.edu	37	15	27188500	27188500	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr15:27188500C>G	ENST00000335625.5	+	10	1904	c.1016C>G	c.(1015-1017)gCc>gGc	p.A339G	GABRA5_ENST00000355395.5_Missense_Mutation_p.A339G|GABRA5_ENST00000400081.3_Missense_Mutation_p.A339G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	339					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ATAGAGTTTGCCACGGTCAAT	0.532																																						dbGAP											0													34.0	37.0	36.0					15																	27188500		2038	4232	6270	-	-	-	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1016C>G	15.37:g.27188500C>G	ENSP00000335592:p.Ala339Gly		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A339G	ENST00000335625.5	37	c.1016	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	-	25.3	4.621339	0.87460	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.89746	-2.56;-2.56;-2.56	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.050316	0.85682	N	0.000000	D	0.94318	0.8174	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93406	0.6764	10	0.39692	T	0.17	.	18.2599	0.90031	0.0:1.0:0.0:0.0	.	339	P31644	GBRA5_HUMAN	G	339	ENSP00000335592:A339G;ENSP00000347557:A339G;ENSP00000382953:A339G	ENSP00000335592:A339G	A	+	2	0	GABRA5	24771246	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.606000	0.82863	2.626000	0.88956	0.651000	0.88453	GCC	GABRA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000186297		0.532	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	60	0.00	0	C			27188500	27188500	+1	no_errors	ENST00000335625	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	1.000	G
GTSF1	121355	genome.wustl.edu	37	12	54849876	54849876	+	3'UTR	SNP	T	T	G	rs1795839	byFrequency	TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr12:54849876T>G	ENST00000552397.1	-	0	1482				RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_3'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1							cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TATAATTAGATTAGGAGGAAA	0.388													T|||	789	0.157548	0.2617	0.2061	5008	,	,		19092	0.0556		0.0815	False		,,,				2504	0.1656					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.*82A>C	12.37:g.54849876T>G			B3KQ60|Q0VGM4|Q8N778	RNA	SNP	-	NULL	ENST00000552397.1	37	NULL	CCDS8881.1	12																																																																																			GTSF1	-	-	ENSG00000170627		0.388	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	HGNC	protein_coding	OTTHUMT00000406187.1	26	0.00	0	T	NM_144594		54849876	54849876	-1	no_errors	ENST00000552336	ensembl	human	known	69_37n	rna	17	15.00	3	SNP	0.980	G
HERC4	26091	genome.wustl.edu	37	10	69834957	69834957	+	5'UTR	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr10:69834957G>A	ENST00000395198.3	-	0	83				HERC4_ENST00000492996.2_5'UTR|HERC4_ENST00000395187.2_5'UTR|HERC4_ENST00000373700.4_5'UTR|HERC4_ENST00000412272.2_5'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACAGCCGTCAGCGACCCGGAT	0.662																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.-165C>T	10.37:g.69834957G>A			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	SNP	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-	ENSG00000148634		0.662	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	72	0.00	0	G	NM_015601		69834957	69834957	-1	no_errors	ENST00000395185	ensembl	human	known	69_37n	rna	41	12.77	6	SNP	1.000	A
IGSF9	57549	genome.wustl.edu	37	1	159901653	159901653	+	Silent	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr1:159901653G>A	ENST00000368094.1	-	11	1508	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.L421L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	437	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGGGGATGAGCAGCTCCC	0.607																																						dbGAP											0													56.0	65.0	62.0					1																	159901653		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1311C>T	1.37:g.159901653G>A				Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L437	ENST00000368094.1	37	c.1311	CCDS44254.1	1																																																																																			IGSF9	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000085552		0.607	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	75	0.00	0	G	NM_020789		159901653	159901653	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	silent	44	12.00	6	SNP	0.991	A
KLF8	11279	genome.wustl.edu	37	X	56292171	56292171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chrX:56292171G>T	ENST00000468660.1	+	3	928	c.640G>T	c.(640-642)Gga>Tga	p.G214*	KLF8_ENST00000374928.3_Nonsense_Mutation_p.G214*	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TAAAAATGCTGGATCAGGTAA	0.463																																						dbGAP											0													52.0	42.0	45.0					X																	56292171		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.640G>T	X.37:g.56292171G>T	ENSP00000417303:p.Gly214*		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G214*	ENST00000468660.1	37	c.640	CCDS14373.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.634830	0.96682	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.8906	0.52626	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000431911:G214X	G	+	1	0	KLF8	56308896	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.945000	0.87732	2.088000	0.63022	0.600000	0.82982	GGA	KLF8	-	NULL	ENSG00000102349		0.463	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2	48	0.00	0	G	NM_007250		56292171	56292171	+1	no_errors	ENST00000468660	ensembl	human	known	69_37n	nonsense	27	10.00	3	SNP	1.000	T
KRT16P3	644945	genome.wustl.edu	37	17	20405802	20405802	+	RNA	SNP	T	T	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr17:20405802T>C	ENST00000580113.1	-	0	1012									keratin 16 pseudogene 3																		TCTGGTCCCATCCTGAGAAAA	0.498																																						dbGAP											0																																										-	-	-			0			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405802T>C				RNA	SNP	-	NULL	ENST00000580113.1	37	NULL		17																																																																																			KRT16P3	-	-	ENSG00000214822		0.498	KRT16P3-004	KNOWN	basic	processed_transcript	KRT16P3	HGNC	pseudogene	OTTHUMT00000443764.1	40	0.00	0	T	NR_029393		20405802	20405802	-1	no_errors	ENST00000580621	ensembl	human	known	69_37n	rna	29	14.71	5	SNP	0.000	C
MC1R	4157	genome.wustl.edu	37	16	89981162	89981165	+	De_novo_Start_OutOfFrame	DEL	TGTG	TGTG	-	rs374799838		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	TGTG	TGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr16:89981162_89981165delTGTG	ENST00000555427.1	+	0	1337_1340				RP11-566K11.7_ENST00000570217.1_RNA			Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ggtgcacatttgtgtgtgtgtgtg	0.544									Melanoma, Familial Clustering of																													dbGAP											0																																										-	-	-			0	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555427.1:c.-964TGTG>-	16.37:g.89981170_89981173delTGTG			Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	RNA	DEL	-	NULL	ENST00000555427.1	37	NULL		16																																																																																			MC1R	-	-	ENSG00000258839		0.544	MC1R-002	PUTATIVE	basic	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412001.2	82	0.00	0	TGTG	NM_002386		89981162	89981165	+1	no_errors	ENST00000539976	ensembl	human	known	69_37n	rna	33	13.16	5	DEL	0.985:0.991:0.994:0.989	-
MMP13	4322	genome.wustl.edu	37	11	102822837	102822837	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr11:102822837C>T	ENST00000260302.3	-	5	731	c.703G>A	c.(703-705)Gac>Aac	p.D235N	MMP13_ENST00000340273.4_Missense_Mutation_p.D235N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	235	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GCTCCAGGGTCCTTGGAGTGG	0.453																																						dbGAP											0													223.0	209.0	214.0					11																	102822837		2202	4299	6501	-	-	-	SO:0001583	missense	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.703G>A	11.37:g.102822837C>T	ENSP00000260302:p.Asp235Asn		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D235N	ENST00000260302.3	37	c.703	CCDS8324.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.189780	0.94923	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.55413	0.52;0.52	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69495	-0.5130	10	0.39692	T	0.17	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	235	P45452	MMP13_HUMAN	N	235	ENSP00000260302:D235N;ENSP00000339672:D235N	ENSP00000260302:D235N	D	-	1	0	MMP13	102328047	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.772000	0.85439	2.866000	0.98385	0.650000	0.86243	GAC	MMP13	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	ENSG00000137745		0.453	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	43	0.00	0	C	NM_002427		102822837	102822837	-1	no_errors	ENST00000340273	ensembl	human	novel	69_37n	missense	25	16.67	5	SNP	1.000	T
MUM1L1	139221	genome.wustl.edu	37	X	105449660	105449660	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chrX:105449660C>G	ENST00000357175.2	+	4	884	c.235C>G	c.(235-237)Cca>Gca	p.P79A	MUM1L1_ENST00000372552.1_Missense_Mutation_p.P79A|MUM1L1_ENST00000337685.2_Missense_Mutation_p.P79A	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	79						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGACAGTGCTCCACCTACAGA	0.398																																						dbGAP											0													47.0	40.0	42.0					X																	105449660		1919	4115	6034	-	-	-	SO:0001583	missense	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.235C>G	X.37:g.105449660C>G	ENSP00000349699:p.Pro79Ala		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.P79A	ENST00000357175.2	37	c.235	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.039359	0.00402	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.21734	1.99;1.99;1.99	4.71	-6.36	0.01969	.	2.478770	0.02044	N	0.049497	T	0.09598	0.0236	L	0.31476	0.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	0.1606	0.00103	0.3505:0.1555:0.2082:0.2858	.	79	Q5H9M0	MUML1_HUMAN	A	79	ENSP00000349699:P79A;ENSP00000338641:P79A;ENSP00000361632:P79A	ENSP00000338641:P79A	P	+	1	0	MUM1L1	105336316	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.839000	0.00738	-1.485000	0.01854	-0.191000	0.12829	CCA	MUM1L1	-	NULL	ENSG00000157502		0.398	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	22	0.00	0	C	NM_152423		105449660	105449660	+1	no_errors	ENST00000337685	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.000	G
NAALADL2	254827	genome.wustl.edu	37	3	174814996	174814996	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr3:174814996G>T	ENST00000454872.1	+	2	588	c.460G>T	c.(460-462)Gct>Tct	p.A154S	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	154						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCCTTCAGATGCTCCATCTTC	0.358																																						dbGAP											0													99.0	101.0	100.0					3																	174814996		1841	4086	5927	-	-	-	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.460G>T	3.37:g.174814996G>T	ENSP00000404705:p.Ala154Ser		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.A154S	ENST00000454872.1	37	c.460	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.647529	0.00792	.	.	ENSG00000177694	ENST00000454872	T	0.32515	1.45	5.63	1.8	0.24995	.	0.379178	0.22556	N	0.058540	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.001	T	0.19484	-1.0304	9	.	.	.	-9.0004	2.8781	0.05638	0.2753:0.1428:0.4775:0.1045	.	137;154	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	S	154	ENSP00000404705:A154S	.	A	+	1	0	NAALADL2	176297690	0.000000	0.05858	0.490000	0.27465	0.002000	0.02628	0.270000	0.18607	0.138000	0.18790	-2.475000	0.00201	GCT	NAALADL2	-	NULL	ENSG00000177694		0.358	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	32	0.00	0	G	NM_207015		174814996	174814996	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	23	11.54	3	SNP	0.016	T
NCAPG	64151	genome.wustl.edu	37	4	17816953	17816953	+	Silent	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr4:17816953C>T	ENST00000251496.2	+	5	923	c.747C>T	c.(745-747)ctC>ctT	p.L249L		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	249					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GAGTAATGCTCCTTCAACAAG	0.313																																						dbGAP											0													52.0	53.0	53.0					4																	17816953		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.747C>T	4.37:g.17816953C>T			Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	superfamily_ARM-type_fold	p.L249	ENST00000251496.2	37	c.747	CCDS3424.1	4																																																																																			NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.313	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	68	0.00	0	C	NM_022346		17816953	17816953	+1	no_errors	ENST00000251496	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.570	T
OR4K2	390431	genome.wustl.edu	37	14	20345024	20345024	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr14:20345024A>G	ENST00000298642.2	+	1	634	c.598A>G	c.(598-600)Atc>Gtc	p.I200V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCTTTATGATCTCAACAAG	0.408																																						dbGAP											0													344.0	342.0	343.0					14																	20345024		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.598A>G	14.37:g.20345024A>G	ENSP00000298642:p.Ile200Val		B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I200V	ENST00000298642.2	37	c.598	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	2.274	-0.366316	0.05069	.	.	ENSG00000165762	ENST00000298642	T	0.00091	8.74	5.0	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.128562	0.34828	N	0.003658	T	0.00073	0.0002	N	0.11427	0.14	0.25157	N	0.990381	B	0.16396	0.017	B	0.26864	0.074	T	0.04522	-1.0945	10	0.07175	T	0.84	.	7.7387	0.28829	0.6625:0.0:0.0:0.3375	.	200	Q8NGD2	OR4K2_HUMAN	V	200	ENSP00000298642:I200V	ENSP00000298642:I200V	I	+	1	0	OR4K2	19414864	0.000000	0.05858	1.000000	0.80357	0.916000	0.54674	-0.079000	0.11357	0.907000	0.36646	0.383000	0.25322	ATC	OR4K2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165762		0.408	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	66	0.00	0	A			20345024	20345024	+1	no_errors	ENST00000298642	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	0.963	G
PIEZO2	63895	genome.wustl.edu	37	18	10699129	10699129	+	Missense_Mutation	SNP	G	G	T	rs113682091	byFrequency	TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr18:10699129G>T	ENST00000503781.3	-	40	6148	c.6149C>A	c.(6148-6150)gCc>gAc	p.A2050D	PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Missense_Mutation_p.A2050D|PIEZO2_ENST00000580640.1_Missense_Mutation_p.A2075D|PIEZO2_ENST00000538948.1_Missense_Mutation_p.A7D	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2050					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTCCTCCCTGGCCATGCCACT	0.542													T|||	502	0.10024	0.2383	0.0879	5008	,	,		20211	0.004		0.0586	False		,,,				2504	0.0644					dbGAP											0													72.0	67.0	68.0					18																	10699129		692	1591	2283	-	-	-	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6149C>A	18.37:g.10699129G>T	ENSP00000421377:p.Ala2050Asp		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_DUF3595	p.A7D	ENST00000503781.3	37	c.20		18	165	0.07554945054945054	91	0.18495934959349594	32	0.08839779005524862	0	0.0	42	0.055408970976253295	T	3.454	-0.111481	0.06881	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948	T;T	0.72394	-0.65;-0.46	5.81	5.81	0.92471	.	.	.	.	.	T	0.00073	0.0002	N	0.00500	-1.43	0.31633	P	0.648757	.	.	.	.	.	.	T	0.05194	-1.0900	6	0.11485	T	0.65	.	8.433	0.32769	0.0:0.0675:0.1333:0.7992	.	.	.	.	D	7;2050;7	ENSP00000303316:A2050D;ENSP00000443129:A7D	ENSP00000303316:A2050D	A	-	2	0	FAM38B	10689129	0.130000	0.22417	0.192000	0.23308	0.002000	0.02628	1.013000	0.29937	1.035000	0.39972	-0.256000	0.11100	GCC	PIEZO2	-	NULL	ENSG00000154864		0.542	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	45	0.00	0	G	NM_022068		10699129	10699129	-1	no_errors	ENST00000538948	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.450	T
POLE	5426	genome.wustl.edu	37	12	133202330	133202330	+	Silent	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr12:133202330G>A	ENST00000320574.5	-	47	6601	c.6558C>T	c.(6556-6558)ctC>ctT	p.L2186L	POLE_ENST00000535270.1_Silent_p.L2159L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2186					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGTTGGAGCAGAGCCACTGAG	0.612								DNA polymerases (catalytic subunits)																														dbGAP											0													110.0	104.0	106.0					12																	133202330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6558C>T	12.37:g.133202330G>A			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.L2197	ENST00000320574.5	37	c.6591	CCDS9278.1	12																																																																																			POLE	-	NULL	ENSG00000177084		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	50	0.00	0	G	NM_006231		133202330	133202330	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	silent	36	23.40	11	SNP	1.000	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37730535	37730535	+	Silent	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr8:37730535G>A	ENST00000330843.4	-	4	1797	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	595	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGAGAGAGGAGAAGACAGAAG	0.547																																						dbGAP											0													83.0	76.0	78.0					8																	37730535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1785C>T	8.37:g.37730535G>A			J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.F595	ENST00000330843.4	37	c.1785	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL	ENSG00000156675		0.547	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	82	0.00	0	G	NM_025151		37730535	37730535	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	silent	89	39.19	58	SNP	0.003	A
RP1	6101	genome.wustl.edu	37	8	55542413	55542413	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr8:55542413C>A	ENST00000220676.1	+	4	6119	c.5971C>A	c.(5971-5973)Cag>Aag	p.Q1991K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1991					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATATTTGATCAGTTTTATTT	0.294																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													52.0	57.0	56.0					8																	55542413		2194	4297	6491	-	-	-	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5971C>A	8.37:g.55542413C>A	ENSP00000220676:p.Gln1991Lys			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1991K	ENST00000220676.1	37	c.5971	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.162890	0.01673	.	.	ENSG00000104237	ENST00000220676	T	0.20200	2.09	5.81	-3.0	0.05480	.	1.124050	0.07067	N	0.834783	T	0.11580	0.0282	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.35748	-0.9776	10	0.30078	T	0.28	.	1.5176	0.02509	0.3846:0.2921:0.2025:0.1208	.	1991	P56715	RP1_HUMAN	K	1991	ENSP00000220676:Q1991K	ENSP00000220676:Q1991K	Q	+	1	0	RP1	55704966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.055000	0.11807	-0.292000	0.08999	-0.967000	0.02615	CAG	RP1	-	NULL	ENSG00000104237		0.294	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	35	0.00	0	C	NM_006269		55542413	55542413	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	20	13.04	3	SNP	0.000	A
SIRT7	51547	genome.wustl.edu	37	17	79872542	79872542	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr17:79872542G>T	ENST00000328666.6	-	6	579	c.517C>A	c.(517-519)Cac>Aac	p.H173N		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	173	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCCTCAGGTGGAGCCCGTCA	0.632																																						dbGAP											0													75.0	69.0	71.0					17																	79872542		2202	4295	6497	-	-	-	SO:0001583	missense	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.517C>A	17.37:g.79872542G>T	ENSP00000329466:p.His173Asn		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.H173N	ENST00000328666.6	37	c.517	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114478	0.77210	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.22743	1.94	4.2	4.2	0.49525	.	0.057008	0.64402	D	0.000001	T	0.66954	0.2842	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83996	0.0340	10	0.87932	D	0	-21.8861	16.7543	0.85495	0.0:0.0:1.0:0.0	.	173;173	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	N	173;156	ENSP00000329466:H173N	ENSP00000329466:H173N	H	-	1	0	SIRT7	77465834	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.923000	0.92808	2.168000	0.68352	0.561000	0.74099	CAC	SIRT7	-	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	ENSG00000187531		0.632	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	64	0.00	0	G	NM_016538		79872542	79872542	-1	no_errors	ENST00000328666	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
SLC25A18	83733	genome.wustl.edu	37	22	18072925	18072925	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr22:18072925A>G	ENST00000327451.6	+	11	1409	c.871A>G	c.(871-873)Ata>Gta	p.I291V	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.I291V	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	291						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GGCACTGGTCATAGCACCTCT	0.522																																					Colon(118;1560 1625 18964 29606 50093)	dbGAP											0													122.0	119.0	120.0					22																	18072925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.871A>G	22.37:g.18072925A>G	ENSP00000329033:p.Ile291Val			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.I291V	ENST00000327451.6	37	c.871	CCDS13744.1	22	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540075	0.65085	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.77489	-1.1;-1.1	5.22	5.22	0.72569	Mitochondrial carrier domain (2);	0.082818	0.64402	D	0.000010	T	0.75049	0.3797	N	0.25890	0.77	0.58432	D	0.999999	D	0.55605	0.972	P	0.55303	0.773	T	0.71144	-0.4678	10	0.17369	T	0.5	.	14.3664	0.66807	1.0:0.0:0.0:0.0	.	291	Q9H1K4	GHC2_HUMAN	V	291	ENSP00000329033:I291V;ENSP00000382710:I291V	ENSP00000329033:I291V	I	+	1	0	SLC25A18	16452925	1.000000	0.71417	0.990000	0.47175	0.437000	0.31866	6.663000	0.74431	2.098000	0.63641	0.533000	0.62120	ATA	SLC25A18	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000182902		0.522	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A18	HGNC	protein_coding	OTTHUMT00000316214.3	64	0.00	0	A	NM_031481		18072925	18072925	+1	no_errors	ENST00000327451	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	1.000	G
SLC6A2	6530	genome.wustl.edu	37	16	55719076	55719076	+	Silent	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr16:55719076C>T	ENST00000379906.2	+	4	921	c.666C>T	c.(664-666)caC>caT	p.H222H	SLC6A2_ENST00000219833.8_Silent_p.H222H|SLC6A2_ENST00000414754.3_Silent_p.H222H|SLC6A2_ENST00000566163.1_Silent_p.H222H|SLC6A2_ENST00000567238.1_Silent_p.H117H|SLC6A2_ENST00000561820.1_Silent_p.H222H|SLC6A2_ENST00000568943.1_Silent_p.H222H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	222					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCACCTTCACGAGAGCAGCG	0.602																																						dbGAP											0													117.0	101.0	106.0					16																	55719076		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.666C>T	16.37:g.55719076C>T			B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.H222	ENST00000379906.2	37	c.666	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000103546		0.602	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	107	0.00	0	C			55719076	55719076	+1	no_errors	ENST00000219833	ensembl	human	known	69_37n	silent	80	15.79	15	SNP	0.129	T
SLMAP	7871	genome.wustl.edu	37	3	57898911	57898911	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr3:57898911T>C	ENST00000428312.1	+	19	2090	c.1996T>C	c.(1996-1998)Tgg>Cgg	p.W666R	SLMAP_ENST00000295951.3_Missense_Mutation_p.W649R|SLMAP_ENST00000449503.2_Missense_Mutation_p.W628R|SLMAP_ENST00000416870.1_Missense_Mutation_p.W159R|SLMAP_ENST00000295952.3_Missense_Mutation_p.W649R|SLMAP_ENST00000494088.1_Missense_Mutation_p.W159R|SLMAP_ENST00000442599.2_Missense_Mutation_p.W134R|SLMAP_ENST00000495364.1_Missense_Mutation_p.W200R			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	666					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGAAAGGAATGGAATGCATT	0.338																																						dbGAP											0													78.0	80.0	79.0					3																	57898911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1996T>C	3.37:g.57898911T>C	ENSP00000398661:p.Trp666Arg		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.W666R	ENST00000428312.1	37	c.1996		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.16|19.16	3.774725|3.774725	0.70107|0.70107	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088	.|T;T;T;T;T;T;T;D	.|0.82433	.|-1.09;-1.09;-1.09;1.55;1.54;1.64;-1.09;-1.61	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.157268	.|0.64402	.|D	.|0.000011	D|D	0.87075|0.87075	0.6087|0.6087	L|L	0.44542|0.44542	1.39|1.39	0.53005|0.53005	D|D	0.999967|0.999967	.|D;D;D;D;D;P;P;D	.|0.76494	.|0.998;0.999;0.999;0.999;0.997;0.941;0.943;0.985	.|D;D;D;D;D;P;B;P	.|0.76071	.|0.961;0.987;0.958;0.977;0.956;0.648;0.445;0.864	D|D	0.84474|0.84474	0.0601|0.0601	5|10	.|0.23891	.|T	.|0.37	-5.0125|-5.0125	15.1956|15.1956	0.73084|0.73084	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|159;134;200;159;260;628;666;649	.|B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3	.|.;.;.;.;.;.;SLMAP_HUMAN;.	T|R	273;203|649;649;159;666;628;260;134;200;159	.|ENSP00000295951:W649R;ENSP00000295952:W649R;ENSP00000412342:W159R;ENSP00000398661:W666R;ENSP00000412945:W628R;ENSP00000388978:W134R;ENSP00000419543:W200R;ENSP00000418218:W159R	.|ENSP00000295951:W649R	M|W	+|+	2|1	0|0	SLMAP|SLMAP	57873951|57873951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	5.543000|5.543000	0.67225|0.67225	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ATG|TGG	SLMAP	-	NULL	ENSG00000163681		0.338	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	46	0.00	0	T	NM_007159		57898911	57898911	+1	no_errors	ENST00000428312	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	1.000	C
SNX13	23161	genome.wustl.edu	37	7	17879459	17879459	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr7:17879459C>T	ENST00000409389.1	-	13	1502	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	SNX13_ENST00000428135.3_Missense_Mutation_p.G444R			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	444	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCATAAATTCCAACAGCAGCT	0.348																																						dbGAP											0													110.0	105.0	106.0					7																	17879459		1842	4089	5931	-	-	-	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1330G>A	7.37:g.17879459C>T	ENSP00000386705:p.Gly444Arg		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.G444R	ENST00000409389.1	37	c.1330		7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539745	0.85917	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.01821	4.62;4.62	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.04407	0.0121	L	0.47716	1.5	0.80722	D	1	P;B;D	0.53151	0.912;0.27;0.958	P;B;P	0.50896	0.602;0.143;0.653	T	0.63323	-0.6663	10	0.18710	T	0.47	-11.7972	19.2026	0.93717	0.0:1.0:0.0:0.0	.	241;444;444	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	R	444;444;492	ENSP00000386705:G444R;ENSP00000398789:G444R	ENSP00000242044:G492R	G	-	1	0	SNX13	17845984	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.445000	0.80570	2.595000	0.87683	0.557000	0.71058	GGA	SNX13	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000071189		0.348	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	62	0.00	0	C	NM_015132		17879459	17879459	-1	no_errors	ENST00000428135	ensembl	human	novel	69_37n	missense	44	15.38	8	SNP	1.000	T
SPIB	6689	genome.wustl.edu	37	19	50931310	50931310	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr19:50931310T>G	ENST00000595883.1	+	6	531	c.506T>G	c.(505-507)cTg>cGg	p.L169R	SPIB_ENST00000439922.2_Missense_Mutation_p.L78R|CTD-2545M3.6_ENST00000599632.1_Silent_p.A303A|SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000270632.7_Missense_Mutation_p.C168G|SPIB_ENST00000596074.1_3'UTR	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	169					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGCAAGAAGCTGCGCCTGTAC	0.682																																						dbGAP											0													15.0	19.0	18.0					19																	50931310		2178	4271	6449	-	-	-	SO:0001583	missense	0				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.506T>G	19.37:g.50931310T>G	ENSP00000471921:p.Leu169Arg		A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.L169R	ENST00000595883.1	37	c.506	CCDS33080.1	19	.	.	.	.	.	.	.	.	.	.	.	19.09	3.759687	0.69763	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.23754	1.89	3.84	3.84	0.44239	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.206602	0.23314	N	0.049523	T	0.42607	0.1210	M	0.65677	2.01	0.37153	D	0.902256	D;D	0.53462	0.96;0.96	P;P	0.57776	0.827;0.827	T	0.54476	-0.8288	10	0.87932	D	0	0.9888	12.0511	0.53507	0.0:0.0:0.0:1.0	.	78;169	B4DUG6;Q01892	.;SPIB_HUMAN	R	169;78	ENSP00000391877:L78R	ENSP00000270632:L169R	L	+	2	0	SPIB	55623122	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.432000	0.80349	1.746000	0.51805	0.459000	0.35465	CTG	SPIB	-	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	ENSG00000142539		0.682	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIB	HGNC	protein_coding	OTTHUMT00000464744.1	114	0.00	0	T	NM_003121		50931310	50931310	+1	no_errors	ENST00000270632	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	40	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	23	22.58	7	SNP	1.000	T
TNS4	84951	genome.wustl.edu	37	17	38643606	38643606	+	Missense_Mutation	SNP	A	A	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr17:38643606A>C	ENST00000254051.6	-	4	1128	c.970T>G	c.(970-972)Tcc>Gcc	p.S324A		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	324	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTACACAGGGACACTGAGCCA	0.572																																						dbGAP											0													98.0	95.0	96.0					17																	38643606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.970T>G	17.37:g.38643606A>C	ENSP00000254051:p.Ser324Ala		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.S324A	ENST00000254051.6	37	c.970	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339510	0.24339	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.49720	0.77	5.22	5.22	0.72569	.	.	.	.	.	T	0.31796	0.0808	L	0.34521	1.04	0.09310	N	1	P	0.40083	0.702	B	0.34418	0.182	T	0.11542	-1.0583	9	0.23891	T	0.37	-21.6675	7.8197	0.29280	0.9065:0.0:0.0935:0.0	.	324	Q8IZW8	TENS4_HUMAN	A	324	ENSP00000254051:S324A	ENSP00000254051:S324A	S	-	1	0	TNS4	35897132	0.714000	0.27936	0.274000	0.24659	0.277000	0.26821	1.412000	0.34714	1.958000	0.56883	0.459000	0.35465	TCC	TNS4	-	NULL	ENSG00000131746		0.572	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	44	0.00	0	A	NM_032865		38643606	38643606	-1	no_errors	ENST00000254051	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.289	C
TANC2	26115	genome.wustl.edu	37	17	61391823	61391823	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr17:61391823G>C	ENST00000424789.2	+	8	1016	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E338Q|RP11-269G24.2_ENST00000580253.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	338					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATCACTACAGAGTCAGTGTT	0.458																																						dbGAP											0													96.0	90.0	92.0					17																	61391823		1978	4169	6147	-	-	-	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1012G>C	17.37:g.61391823G>C	ENSP00000387593:p.Glu338Gln		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E338Q	ENST00000424789.2	37	c.1012	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261003	0.80246	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.24151	1.87;1.87	5.26	5.26	0.73747	.	.	.	.	.	T	0.22322	0.0538	N	0.14661	0.345	0.49798	D	0.999828	P;P	0.43973	0.823;0.764	B;B	0.43155	0.409;0.41	T	0.07309	-1.0779	9	0.87932	D	0	.	19.2398	0.93877	0.0:0.0:1.0:0.0	.	338;338	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	338	ENSP00000374171:E338Q;ENSP00000387593:E338Q	ENSP00000374171:E338Q	E	+	1	0	TANC2	58745555	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.779000	0.99018	2.618000	0.88619	0.650000	0.86243	GAG	TANC2	-	NULL	ENSG00000170921		0.458	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	40	0.00	0	G			61391823	61391823	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	1.000	C
TRGV8	6982	genome.wustl.edu	37	7	38370211	38370211	+	RNA	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr7:38370211G>A	ENST00000390343.2	-	0	200				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		TTGGCCTGGTGACTGACTTTG	0.483																																						dbGAP											0													71.0	70.0	70.0					7																	38370211		1918	4132	6050	-	-	-			0			M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370211G>A				Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.V29	ENST00000390343.2	37	c.87		7																																																																																			TRGV8	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211696		0.483	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRGV8	HGNC	TR_V_gene	OTTHUMT00000338399.4	52	0.00	0	G	NG_001336		38370211	38370211	-1	no_stop_codon	ENST00000390343	ensembl	human	known	69_37n	silent	44	11.54	6	SNP	0.197	A
TRMT2B	79979	genome.wustl.edu	37	X	100292961	100292961	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chrX:100292961G>A	ENST00000372936.3	-	5	1155	c.383C>T	c.(382-384)aCg>aTg	p.T128M	TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000545398.1_Missense_Mutation_p.T128M|TRMT2B_ENST00000372935.1_Missense_Mutation_p.T128M|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372931.5_Missense_Mutation_p.T128M	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	128						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GGGTACAGCCGTTGTCACACT	0.413																																						dbGAP											0													253.0	255.0	254.0					X																	100292961		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.383C>T	X.37:g.100292961G>A	ENSP00000362027:p.Thr128Met		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.T128M	ENST00000372936.3	37	c.383	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598266	0.28445	.	.	ENSG00000188917	ENST00000545398;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.51	-1.57	0.08506	.	1.131490	0.06547	N	0.744275	T	0.30324	0.0761	L	0.55481	1.735	0.09310	N	1	P;P	0.48162	0.906;0.89	B;B	0.35813	0.211;0.206	T	0.32693	-0.9897	10	0.48119	T	0.1	2.8145	4.1633	0.10295	0.5117:0.1795:0.3088:0.0	.	128;128	F2Z384;Q96GJ1	.;TRM2_HUMAN	M	128	ENSP00000438134:T128M;ENSP00000362026:T128M;ENSP00000362027:T128M;ENSP00000362022:T128M	ENSP00000362022:T128M	T	-	2	0	TRMT2B	100179617	0.001000	0.12720	0.000000	0.03702	0.240000	0.25518	0.385000	0.20685	-0.116000	0.11893	0.506000	0.49869	ACG	TRMT2B	-	NULL	ENSG00000188917		0.413	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	124	0.00	0	G	NM_024917		100292961	100292961	-1	no_errors	ENST00000372935	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179482763	179482763	+	Missense_Mutation	SNP	C	C	G	rs72677233	byFrequency	TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr2:179482763C>G	ENST00000591111.1	-	203	42616	c.42392G>C	c.(42391-42393)cGa>cCa	p.R14131P	TTN_ENST00000342175.6_Missense_Mutation_p.R6899P|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6832P|TTN_ENST00000460472.2_Missense_Mutation_p.R6707P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15772P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13204P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14131	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACACCAAATCGATTCACATC	0.438																																						dbGAP											0													80.0	78.0	79.0					2																	179482763		1958	4147	6105	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42392G>C	2.37:g.179482763C>G	ENSP00000465570:p.Arg14131Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R13204P	ENST00000591111.1	37	c.39611		2	.	.	.	.	.	.	.	.	.	.	C	8.302	0.820155	0.16678	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.73	4.85	0.62838	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54695	0.1874	L	0.38175	1.15	0.44771	D	0.997773	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.50896	0.653;0.653;0.653;0.653	T	0.59947	-0.7358	9	0.87932	D	0	.	15.2269	0.73359	0.0:0.9323:0.0:0.0677	.	6707;6832;6899;14131	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	13204;6707;6899;6832;6707	ENSP00000343764:R13204P;ENSP00000434586:R6707P;ENSP00000340554:R6899P;ENSP00000352154:R6832P	ENSP00000340554:R6899P	R	-	2	0	TTN	179191008	1.000000	0.71417	0.993000	0.49108	0.491000	0.33493	3.740000	0.55082	1.560000	0.49568	-0.150000	0.13652	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	58	0.00	0	C	NM_133378		179482763	179482763	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	1.000	G
VWA2	340706	genome.wustl.edu	37	10	116032589	116032589	+	Silent	SNP	C	C	T	rs199903383		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr10:116032589C>T	ENST00000392982.3	+	6	712	c.462C>T	c.(460-462)ctC>ctT	p.L154L	VWA2_ENST00000603594.1_Silent_p.L154L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	154	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCCAGATCCTCATCATCGTCA	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20149	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													116.0	97.0	103.0					10																	116032589		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.462C>T	10.37:g.116032589C>T			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EGF-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.L154	ENST00000392982.3	37	c.462		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.567	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	80	0.00	0	C	NM_198496		116032589	116032589	+1	no_errors	ENST00000392982	ensembl	human	known	69_37n	silent	46	19.30	11	SNP	0.906	T
ZFHX4	79776	genome.wustl.edu	37	8	77768240	77768240	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr8:77768240C>A	ENST00000521891.2	+	10	9531	c.9083C>A	c.(9082-9084)tCc>tAc	p.S3028Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3002Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2983Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2983Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2983					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACATTTTCTCCAAACAGCAC	0.527										HNSCC(33;0.089)																												dbGAP											0													63.0	62.0	62.0					8																	77768240		1959	4146	6105	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9083C>A	8.37:g.77768240C>A	ENSP00000430497:p.Ser3028Tyr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S3028Y	ENST00000521891.2	37	c.9083	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170102	0.57584	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.67698	-0.28;-0.21;-0.22;-0.25	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.44285	U	0.000476	D	0.82462	0.5042	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.997	D	0.83896	0.0287	10	0.87932	D	0	.	19.1743	0.93597	0.0:1.0:0.0:0.0	.	2983;2983;3028	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	3028;3012;2983;2983;3002	ENSP00000430497:S3028Y;ENSP00000399605:S2983Y;ENSP00000050961:S2983Y;ENSP00000430848:S3002Y	ENSP00000050961:S2983Y	S	+	2	0	ZFHX4	77930795	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.644000	0.83416	2.768000	0.95171	0.643000	0.83706	TCC	ZFHX4	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000091656		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	37	0.00	0	C	NM_024721		77768240	77768240	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	A
ZFYVE28	57732	genome.wustl.edu	37	4	2306739	2306739	+	Missense_Mutation	SNP	C	C	T	rs553390216		TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr4:2306739C>T	ENST00000290974.2	-	8	1667	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G413E|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G373E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	443					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCCCGCCGCTCCGCCTGGCCC	0.692																																						dbGAP											0													40.0	43.0	42.0					4																	2306739		2165	4234	6399	-	-	-	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1328G>A	4.37:g.2306739C>T	ENSP00000290974:p.Gly443Glu		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G443E	ENST00000290974.2	37	c.1328	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	5.742	0.321332	0.10845	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.57273	0.43;0.41;0.42	4.26	2.43	0.29744	.	0.786356	0.10742	N	0.639333	T	0.43765	0.1262	L	0.53249	1.67	0.09310	N	0.999999	B;B	0.33238	0.403;0.294	B;B	0.25405	0.06;0.057	T	0.15178	-1.0446	10	0.27785	T	0.31	.	10.2959	0.43625	0.0:0.5596:0.4404:0.0	.	413;443	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	E	443;413;373	ENSP00000290974:G443E;ENSP00000425706:G413E;ENSP00000426299:G373E	ENSP00000290974:G443E	G	-	2	0	ZFYVE28	2276537	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.984000	0.29565	0.379000	0.24794	0.405000	0.27470	GGA	ZFYVE28	-	NULL	ENSG00000159733		0.692	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	90	0.00	0	C	XM_035371		2306739	2306739	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	0.026	T
ZNF573	126231	genome.wustl.edu	37	19	38230548	38230548	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr19:38230548C>A	ENST00000590414.2	-	4	864	c.843G>T	c.(841-843)aaG>aaT	p.K281N	ZNF573_ENST00000339503.4_Missense_Mutation_p.K223N|ZNF573_ENST00000392138.1_Missense_Mutation_p.K194N|ZNF573_ENST00000357309.3_Missense_Mutation_p.K193N|ZNF573_ENST00000536220.1_Missense_Mutation_p.K193N			Q86YE8	ZN573_HUMAN	zinc finger protein 573	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TACTAAAAGTCTTCCCACATT	0.423																																						dbGAP											0													103.0	100.0	101.0					19																	38230548		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.843G>T	19.37:g.38230548C>A	ENSP00000465020:p.Lys281Asn		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	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.K281N	ENST00000590414.2	37	c.843	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568335	0.45798	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	2.33	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61476	0.2350	H	0.95224	3.64	0.22961	N	0.998502	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.46582	-0.9181	9	0.87932	D	0	.	5.8843	0.18872	0.0:0.712:0.0:0.288	.	194;223;261;193	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	N	194;193;193;223;193	ENSP00000375983:K194N;ENSP00000440464:K193N;ENSP00000349861:K193N;ENSP00000340171:K223N	ENSP00000340171:K223N	K	-	3	2	ZNF573	42922388	0.021000	0.18746	0.997000	0.53966	0.991000	0.79684	0.120000	0.15647	1.131000	0.42111	0.585000	0.79938	AAG	ZNF573	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189144		0.423	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	30	0.00	0	C	NM_152360		38230548	38230548	-1	no_errors	ENST00000590414	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.598	A
ZNF573	126231	genome.wustl.edu	37	19	38230680	38230680	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr19:38230680C>G	ENST00000590414.2	-	4	732	c.711G>C	c.(709-711)gaG>gaC	p.E237D	ZNF573_ENST00000339503.4_Missense_Mutation_p.E179D|ZNF573_ENST00000392138.1_Missense_Mutation_p.E150D|ZNF573_ENST00000357309.3_Missense_Mutation_p.E149D|ZNF573_ENST00000536220.1_Missense_Mutation_p.E149D			Q86YE8	ZN573_HUMAN	zinc finger protein 573	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGTGAATTCTCTCATGTTGAA	0.453																																						dbGAP											0													115.0	108.0	110.0					19																	38230680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.711G>C	19.37:g.38230680C>G	ENSP00000465020:p.Glu237Asp		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	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.E237D	ENST00000590414.2	37	c.711	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896270	0.52121	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	2.64	1.59	0.23543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17831	0.0428	L	0.60012	1.86	0.23150	N	0.998213	P;P;P;P	0.42123	0.571;0.73;0.771;0.73	B;B;B;B	0.39738	0.205;0.205;0.308;0.205	T	0.10730	-1.0617	9	0.87932	D	0	.	8.0184	0.30395	0.0:0.8681:0.0:0.1319	.	150;179;217;149	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	D	150;149;149;179;149	ENSP00000375983:E150D;ENSP00000440464:E149D;ENSP00000349861:E149D;ENSP00000340171:E179D	ENSP00000340171:E179D	E	-	3	2	ZNF573	42922520	0.000000	0.05858	0.878000	0.34440	0.977000	0.68977	-0.746000	0.04829	0.312000	0.23038	0.650000	0.86243	GAG	ZNF573	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189144		0.453	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	94	0.00	0	C	NM_152360		38230680	38230680	-1	no_errors	ENST00000590414	ensembl	human	known	69_37n	missense	79	22.55	23	SNP	1.000	G
ZNF658	26149	genome.wustl.edu	37	9	40772576	40772576	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr9:40772576T>C	ENST00000602553.1	-	5	2993	c.2699A>G	c.(2698-2700)cAt>cGt	p.H900R	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.H900R			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	900					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTTCTAAGATGTGCTCTGAG	0.458																																						dbGAP											0													59.0	59.0	59.0					9																	40772576		2201	4280	6481	-	-	-	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2699A>G	9.37:g.40772576T>C	ENSP00000473484:p.His900Arg		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.H900R	ENST00000602553.1	37	c.2699	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	t	11.90	1.775276	0.31411	.	.	ENSG00000196409	ENST00000377626	D	0.86865	-2.18	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94321	0.8175	H	0.96460	3.825	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.93303	0.6678	9	0.87932	D	0	.	7.7326	0.28796	0.0:0.0:0.0:1.0	.	900	Q5TYW1	ZN658_HUMAN	R	900	ENSP00000366853:H900R	ENSP00000366853:H900R	H	-	2	0	ZNF658	40762576	1.000000	0.71417	0.025000	0.17156	0.942000	0.58702	4.918000	0.63376	1.131000	0.42111	0.423000	0.28283	CAT	ZNF658	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196409		0.458	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	169	0.00	0	T	NM_033160		40772576	40772576	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	missense	86	20.37	22	SNP	0.999	C
ZNF701	55762	genome.wustl.edu	37	19	53086136	53086136	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A2FR-01A-11D-A21Q-09	TCGA-EW-A2FR-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	91439f81-e2ff-4d75-9fcc-aee49fc9c5aa	d5b0ec6a-964e-45ca-bfdd-31757e3dfeaf	g.chr19:53086136G>T	ENST00000540331.1	+	5	1247	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	ZNF701_ENST00000391785.3_Missense_Mutation_p.C275F|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.C341F	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGTAATGAGTGTGGCAAGACA	0.413																																					NSCLC(89;451 1475 9611 20673 52284)	dbGAP											0													88.0	79.0	82.0					19																	53086136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1022G>T	19.37:g.53086136G>T	ENSP00000444339:p.Cys341Phe		A2RRM8|B9EGF2|F5GZM6|Q66K42	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.C341F	ENST00000540331.1	37	c.1022	CCDS54311.1	19	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007590	0.54361	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	D;D;D	0.85861	-2.04;-2.04;-2.04	1.98	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94308	0.8171	H	0.97491	4.015	0.33891	D	0.63733	D;D	0.89917	1.0;0.998	D;D	0.81914	0.988;0.995	D	0.95549	0.8619	9	0.87932	D	0	.	10.9539	0.47345	0.0:0.0:1.0:0.0	.	341;275	F5GZM6;Q9NV72	.;ZN701_HUMAN	F	275;341;341	ENSP00000375662:C275F;ENSP00000301093:C341F;ENSP00000444339:C341F	ENSP00000301093:C341F	C	+	2	0	ZNF701	57777948	1.000000	0.71417	0.046000	0.18839	0.118000	0.20060	3.980000	0.56895	1.079000	0.41038	0.462000	0.41574	TGT	ZNF701	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167562		0.413	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	99	0.00	0	G	NM_018260		53086136	53086136	+1	no_errors	ENST00000301093	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	1.000	T
