#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS10	81794	genome.wustl.edu	37	19	8651269	8651269	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr19:8651269T>G	ENST00000597188.1	-	21	2759	c.2489A>C	c.(2488-2490)cAc>cCc	p.H830P	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.H830P|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.H317P	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	830	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGCGCATAGTGCCAGGAGTA	0.692											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2489A>C	19.37:g.8651269T>G	ENSP00000471851:p.His830Pro	Somatic	81	WXS	Illumina GAIIx	Phase_IV	M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.H830P	ENST00000597188.1	37	c.2489	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847701	0.71603	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.59906	0.23	4.6	4.6	0.57074	.	0.209202	0.39985	U	0.001210	T	0.69441	0.3111	M	0.76838	2.35	0.58432	D	0.999994	P;P;D	0.54207	0.859;0.953;0.965	B;P;P	0.56865	0.271;0.808;0.579	T	0.68739	-0.5329	10	0.24483	T	0.36	.	13.1842	0.59672	0.0:0.0:0.0:1.0	.	584;830;317	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	P	830;584	ENSP00000270328:H830P	ENSP00000270328:H830P	H	-	2	0	ADAMTS10	8557269	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.339000	0.59322	1.714000	0.51371	0.459000	0.35465	CAC	ADAMTS10	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000142303		0.692	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	22	0.00	0	T	NM_030957		8651269	8651269	-1	no_errors	ENST00000270328	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	G
CALN1	83698	genome.wustl.edu	37	7	71743768	71743768	+	Silent	SNP	G	G	A	rs544217491	byFrequency	TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr7:71743768G>A	ENST00000329008.5	-	2	319	c.21C>T	c.(19-21)acC>acT	p.T7T	CALN1_ENST00000395276.2_Silent_p.T7T|CALN1_ENST00000395275.2_Silent_p.T49T|CALN1_ENST00000431984.1_Silent_p.T7T|CALN1_ENST00000412588.1_Silent_p.T49T|CALN1_ENST00000405452.2_Silent_p.T7T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ACAAGCCGGCGGTCACATGGT	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		18959	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													81.0	60.0	67.0					7																	71743768		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.21C>T	7.37:g.71743768G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQA7	Missense_Mutation	SNP	NULL	p.R51C	ENST00000329008.5	37	c.151	CCDS5541.1	7																																																																																			CALN1	-	NULL	ENSG00000183166		0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000320044.2	42	0.00	0	G	NM_031468		71743768	71743768	-1	no_errors	ENST00000433253	ensembl	human	known	69_37n	missense	79	13.19	12	SNP	0.609	A
CALN1	83698	genome.wustl.edu	37	7	71743768	71743768	+	Silent	SNP	G	G	A	rs544217491	byFrequency	TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr7:71743768G>A	ENST00000329008.5	-	2	319	c.21C>T	c.(19-21)acC>acT	p.T7T	CALN1_ENST00000395276.2_Silent_p.T7T|CALN1_ENST00000395275.2_Silent_p.T49T|CALN1_ENST00000431984.1_Silent_p.T7T|CALN1_ENST00000412588.1_Silent_p.T49T|CALN1_ENST00000405452.2_Silent_p.T7T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ACAAGCCGGCGGTCACATGGT	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		18959	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													81.0	60.0	67.0					7																	71743768		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.21C>T	7.37:g.71743768G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQA7	Missense_Mutation	SNP	NULL	p.R51C	ENST00000329008.5	37	c.151	CCDS5541.1	7																																																																																			CALN1	-	NULL	ENSG00000183166		0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000320044.2	89	0.00	0	G	NM_031468		71743768	71743768	-1	no_errors	ENST00000433253	ensembl	human	known	69_37n	missense	79	13.19	12	SNP	0.609	A
CDK20	23552	genome.wustl.edu	37	9	90582257	90582257	+	3'UTR	SNP	T	T	G	rs559802207		TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr9:90582257T>G	ENST00000325303.8	-	0	1466				CDK20_ENST00000336654.5_3'UTR|CDK20_ENST00000375871.4_3'UTR|CDK20_ENST00000605159.1_3'UTR|CDK20_ENST00000375883.3_3'UTR	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						AGGGGCAGGGTGTGGTGTGGG	0.612																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.*120A>C	9.37:g.90582257T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	RNA	SNP	-	NULL	ENST00000325303.8	37	NULL	CCDS35060.1	9	.	.	.	.	.	.	.	.	.	.	.	6.297	0.422957	0.11928	.	.	ENSG00000156345	ENST00000286878	.	.	.	2.77	-4.08	0.03963	.	1.383860	0.04535	N	0.387085	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15549	-1.0433	6	0.23891	T	0.37	-2.3687	4.0171	0.09649	0.0:0.2892:0.2538:0.457	.	.	.	.	P	366	.	ENSP00000286878:T366P	T	-	1	0	CDK20	89772077	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.702000	0.05069	-0.546000	0.06216	0.402000	0.26972	ACC	CDK20	-	-	ENSG00000156345		0.612	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK20	HGNC	protein_coding	OTTHUMT00000214996.1	53	0.00	0	T	NM_012119		90582257	90582257	-1	no_errors	ENST00000459720	ensembl	human	known	69_37n	rna	36	13.64	6	SNP	0.000	G
COL17A1	1308	genome.wustl.edu	37	10	105796340	105796340	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr10:105796340G>T	ENST00000353479.5	-	48	3618	c.3328C>A	c.(3328-3330)Ccg>Acg	p.P1110T	COL17A1_ENST00000369733.3_Missense_Mutation_p.P1065T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1110	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCCCTGGCGGACCCCGAGGG	0.597																																						dbGAP											0													51.0	45.0	47.0					10																	105796340		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3328C>A	10.37:g.105796340G>T	ENSP00000340937:p.Pro1110Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.P1110T	ENST00000353479.5	37	c.3328	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181079	0.38511	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.97186	-4.28;-3.13	5.18	4.25	0.50352	.	0.178824	0.26532	N	0.023845	D	0.96197	0.8760	M	0.74258	2.255	0.44036	D	0.996767	P	0.52316	0.952	P	0.46585	0.521	D	0.94621	0.7813	10	0.13470	T	0.59	-4.5487	13.7628	0.62977	0.0:0.154:0.846:0.0	.	1110	Q9UMD9	COHA1_HUMAN	T	1110;1065	ENSP00000340937:P1110T;ENSP00000358748:P1065T	ENSP00000340937:P1110T	P	-	1	0	COL17A1	105786330	0.992000	0.36948	0.068000	0.19968	0.242000	0.25591	4.163000	0.58183	1.108000	0.41662	0.478000	0.44815	CCG	COL17A1	-	NULL	ENSG00000065618		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	38	0.00	0	G	NM_130778, NM_000494		105796340	105796340	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	0.214	T
CTSF	8722	genome.wustl.edu	37	11	66335548	66335548	+	Silent	SNP	A	A	G	rs1127894	byFrequency	TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr11:66335548A>G	ENST00000310325.5	-	2	328	c.219T>C	c.(217-219)ggT>ggC	p.G73G	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	73					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCGACCCCTGACCCGCCTGGA	0.682													G|||	2918	0.582668	0.8767	0.415	5008	,	,		10960	0.5407		0.5378	False		,,,				2504	0.3937					dbGAP											0													14.0	23.0	20.0					11																	66335548		2196	4292	6488	-	-	-	SO:0001819	synonymous_variant	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.219T>C	11.37:g.66335548A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G73	ENST00000310325.5	37	c.219	CCDS8144.1	11																																																																																			CTSF	-	NULL	ENSG00000174080		0.682	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1	8	0.00	0	A	NM_003793		66335548	66335548	-1	no_errors	ENST00000310325	ensembl	human	known	69_37n	silent	18	27.27	9	SNP	0.030	G
HRNR	388697	genome.wustl.edu	37	1	152191571	152191571	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr1:152191571C>G	ENST00000368801.2	-	3	2609	c.2534G>C	c.(2533-2535)gGa>gCa	p.G845A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	845					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGTAGATCCATGTCGTCC	0.557																																						dbGAP											0													141.0	140.0	140.0					1																	152191571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2534G>C	1.37:g.152191571C>G	ENSP00000357791:p.Gly845Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G845A	ENST00000368801.2	37	c.2534	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.247	0.231031	0.09969	.	.	ENSG00000197915	ENST00000368801	T	0.18502	2.21	3.58	1.6	0.23607	.	.	.	.	.	T	0.04227	0.0117	L	0.48642	1.525	0.09310	N	1	D	0.52996	0.957	P	0.44811	0.461	T	0.14924	-1.0455	9	0.05959	T	0.93	.	6.226	0.20708	0.0:0.7513:0.0:0.2487	.	845	Q86YZ3	HORN_HUMAN	A	845	ENSP00000357791:G845A	ENSP00000357791:G845A	G	-	2	0	HRNR	150458195	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.114000	0.10757	0.186000	0.20125	0.456000	0.33151	GGA	HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	298	0.00	0	C	XM_373868		152191571	152191571	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	194	13.39	30	SNP	0.000	G
HRNR	388697	genome.wustl.edu	37	1	152191571	152191571	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr1:152191571C>G	ENST00000368801.2	-	3	2609	c.2534G>C	c.(2533-2535)gGa>gCa	p.G845A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	845					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGTAGATCCATGTCGTCC	0.557																																						dbGAP											0													141.0	140.0	140.0					1																	152191571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2534G>C	1.37:g.152191571C>G	ENSP00000357791:p.Gly845Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G845A	ENST00000368801.2	37	c.2534	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.247	0.231031	0.09969	.	.	ENSG00000197915	ENST00000368801	T	0.18502	2.21	3.58	1.6	0.23607	.	.	.	.	.	T	0.04227	0.0117	L	0.48642	1.525	0.09310	N	1	D	0.52996	0.957	P	0.44811	0.461	T	0.14924	-1.0455	9	0.05959	T	0.93	.	6.226	0.20708	0.0:0.7513:0.0:0.2487	.	845	Q86YZ3	HORN_HUMAN	A	845	ENSP00000357791:G845A	ENSP00000357791:G845A	G	-	2	0	HRNR	150458195	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.114000	0.10757	0.186000	0.20125	0.456000	0.33151	GGA	HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	179	0.00	0	C	XM_373868		152191571	152191571	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	194	13.39	30	SNP	0.000	G
IGSF10	285313	genome.wustl.edu	37	3	151161292	151161292	+	Missense_Mutation	SNP	G	G	A	rs200778634		TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr3:151161292G>A	ENST00000282466.3	-	5	5442	c.5443C>T	c.(5443-5445)Cgt>Tgt	p.R1815C	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1815	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAAAGCCACGGTCATAAATA	0.478																																						dbGAP											0													62.0	60.0	60.0					3																	151161292		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5443C>T	3.37:g.151161292G>A	ENSP00000282466:p.Arg1815Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R1815C	ENST00000282466.3	37	c.5443	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327111	0.60743	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.67698	-0.28	5.26	4.38	0.52667	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000246	D	0.82559	0.5063	M	0.89353	3.025	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.84338	0.0525	9	.	.	.	.	10.2333	0.43268	0.0:0.1189:0.5465:0.3346	.	1815	Q6WRI0	IGS10_HUMAN	C	1815;442	ENSP00000282466:R1815C	.	R	-	1	0	IGSF10	152643982	1.000000	0.71417	0.982000	0.44146	0.904000	0.53231	1.862000	0.39448	1.216000	0.43427	0.591000	0.81541	CGT	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000152580		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	87	0.00	0	G	NM_178822		151161292	151161292	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.999	A
IGSF10	285313	genome.wustl.edu	37	3	151161292	151161292	+	Missense_Mutation	SNP	G	G	A	rs200778634		TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr3:151161292G>A	ENST00000282466.3	-	5	5442	c.5443C>T	c.(5443-5445)Cgt>Tgt	p.R1815C	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1815	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAAAGCCACGGTCATAAATA	0.478																																						dbGAP											0													62.0	60.0	60.0					3																	151161292		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5443C>T	3.37:g.151161292G>A	ENSP00000282466:p.Arg1815Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R1815C	ENST00000282466.3	37	c.5443	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327111	0.60743	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.67698	-0.28	5.26	4.38	0.52667	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000246	D	0.82559	0.5063	M	0.89353	3.025	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.84338	0.0525	9	.	.	.	.	10.2333	0.43268	0.0:0.1189:0.5465:0.3346	.	1815	Q6WRI0	IGS10_HUMAN	C	1815;442	ENSP00000282466:R1815C	.	R	-	1	0	IGSF10	152643982	1.000000	0.71417	0.982000	0.44146	0.904000	0.53231	1.862000	0.39448	1.216000	0.43427	0.591000	0.81541	CGT	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000152580		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	103	0.00	0	G	NM_178822		151161292	151161292	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.999	A
PCDHGA12	26025	genome.wustl.edu	37	5	140810665	140810665	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr5:140810665A>C	ENST00000252085.3	+	1	481	c.339A>C	c.(337-339)aaA>aaC	p.K113N	PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGATAAAGTGAAAATAT	0.433																																						dbGAP											0													69.0	83.0	78.0					5																	140810665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.339A>C	5.37:g.140810665A>C	ENSP00000252085:p.Lys113Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K113N	ENST00000252085.3	37	c.339	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	a	12.06	1.825660	0.32237	.	.	ENSG00000253159	ENST00000252085	T	0.48836	0.8	5.59	3.08	0.35506	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.39963	0.1098	L	0.52759	1.655	0.21652	N	0.999605	B;B	0.21688	0.025;0.059	B;B	0.23574	0.047;0.036	T	0.39563	-0.9608	9	0.66056	D	0.02	.	5.2639	0.15588	0.6597:0.0:0.0755:0.2648	.	113;113	O60330-2;O60330	.;PCDGC_HUMAN	N	113	ENSP00000252085:K113N	ENSP00000252085:K113N	K	+	3	2	PCDHGA12	140790849	0.000000	0.05858	0.961000	0.40146	0.968000	0.65278	-2.517000	0.00954	0.964000	0.38108	0.477000	0.44152	AAA	PCDHGA12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253159		0.433	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	77	0.00	0	A	NM_003735		140810665	140810665	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.910	C
PCDHGA12	26025	genome.wustl.edu	37	5	140810665	140810665	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr5:140810665A>C	ENST00000252085.3	+	1	481	c.339A>C	c.(337-339)aaA>aaC	p.K113N	PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGATAAAGTGAAAATAT	0.433																																						dbGAP											0													69.0	83.0	78.0					5																	140810665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.339A>C	5.37:g.140810665A>C	ENSP00000252085:p.Lys113Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K113N	ENST00000252085.3	37	c.339	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	a	12.06	1.825660	0.32237	.	.	ENSG00000253159	ENST00000252085	T	0.48836	0.8	5.59	3.08	0.35506	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.39963	0.1098	L	0.52759	1.655	0.21652	N	0.999605	B;B	0.21688	0.025;0.059	B;B	0.23574	0.047;0.036	T	0.39563	-0.9608	9	0.66056	D	0.02	.	5.2639	0.15588	0.6597:0.0:0.0755:0.2648	.	113;113	O60330-2;O60330	.;PCDGC_HUMAN	N	113	ENSP00000252085:K113N	ENSP00000252085:K113N	K	+	3	2	PCDHGA12	140790849	0.000000	0.05858	0.961000	0.40146	0.968000	0.65278	-2.517000	0.00954	0.964000	0.38108	0.477000	0.44152	AAA	PCDHGA12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253159		0.433	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	48	0.00	0	A	NM_003735		140810665	140810665	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.910	C
ROR1	4919	genome.wustl.edu	37	1	64624790	64624790	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr1:64624790C>T	ENST00000371079.1	+	8	1676	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	434					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACCAGAAGTCATCGTCGGCA	0.443																																						dbGAP											0													170.0	154.0	159.0					1																	64624790		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1301C>T	1.37:g.64624790C>T	ENSP00000360120:p.Ser434Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S434L	ENST00000371079.1	37	c.1301	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601755	0.66445	.	.	ENSG00000185483	ENST00000371079;ENST00000544776	T	0.76060	-0.99	5.77	5.77	0.91146	.	0.203075	0.24511	N	0.037892	T	0.51856	0.1699	N	0.19112	0.55	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.46456	-0.9190	10	0.41790	T	0.15	.	18.5274	0.90978	0.0:1.0:0.0:0.0	.	434	Q01973	ROR1_HUMAN	L	434;437	ENSP00000360120:S434L	ENSP00000360120:S434L	S	+	2	0	ROR1	64397378	1.000000	0.71417	0.966000	0.40874	0.469000	0.32828	7.750000	0.85110	2.890000	0.99128	0.650000	0.86243	TCA	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000185483		0.443	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	226	0.00	0	C	NM_005012		64624790	64624790	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	missense	209	10.68	25	SNP	1.000	T
ROR1	4919	genome.wustl.edu	37	1	64624790	64624790	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr1:64624790C>T	ENST00000371079.1	+	8	1676	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	434					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACCAGAAGTCATCGTCGGCA	0.443																																						dbGAP											0													170.0	154.0	159.0					1																	64624790		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1301C>T	1.37:g.64624790C>T	ENSP00000360120:p.Ser434Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S434L	ENST00000371079.1	37	c.1301	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601755	0.66445	.	.	ENSG00000185483	ENST00000371079;ENST00000544776	T	0.76060	-0.99	5.77	5.77	0.91146	.	0.203075	0.24511	N	0.037892	T	0.51856	0.1699	N	0.19112	0.55	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.46456	-0.9190	10	0.41790	T	0.15	.	18.5274	0.90978	0.0:1.0:0.0:0.0	.	434	Q01973	ROR1_HUMAN	L	434;437	ENSP00000360120:S434L	ENSP00000360120:S434L	S	+	2	0	ROR1	64397378	1.000000	0.71417	0.966000	0.40874	0.469000	0.32828	7.750000	0.85110	2.890000	0.99128	0.650000	0.86243	TCA	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000185483		0.443	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	174	0.00	0	C	NM_005012		64624790	64624790	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	missense	209	10.68	25	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23910597	23910597	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr13:23910597C>G	ENST00000382292.3	-	9	7691	c.7418G>C	c.(7417-7419)tGg>tCg	p.W2473S	SACS_ENST00000382298.3_Missense_Mutation_p.W2473S|SACS_ENST00000402364.1_Missense_Mutation_p.W1723S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2473					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TACTTTTATCCAAGGGCAATC	0.373																																						dbGAP											0													115.0	114.0	115.0					13																	23910597		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7418G>C	13.37:g.23910597C>G	ENSP00000371729:p.Trp2473Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.W2473S	ENST00000382292.3	37	c.7418	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701590	0.68501	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93189	-3.18;-3.18;-3.18	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.69823	2.125	0.80722	D	1	P	0.38420	0.63	B	0.33196	0.159	D	0.92723	0.6193	10	0.59425	D	0.04	.	19.6023	0.95568	0.0:1.0:0.0:0.0	.	2473	Q9NZJ4	SACS_HUMAN	S	2473;1723;2473	ENSP00000371729:W2473S;ENSP00000385844:W1723S;ENSP00000371735:W2473S	ENSP00000371729:W2473S	W	-	2	0	SACS	22808597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.653000	0.90120	0.561000	0.74099	TGG	SACS	-	NULL	ENSG00000151835		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	221	0.00	0	C	NM_014363		23910597	23910597	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	116	13.33	18	SNP	1.000	G
SACS	26278	genome.wustl.edu	37	13	23910597	23910597	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr13:23910597C>G	ENST00000382292.3	-	9	7691	c.7418G>C	c.(7417-7419)tGg>tCg	p.W2473S	SACS_ENST00000382298.3_Missense_Mutation_p.W2473S|SACS_ENST00000402364.1_Missense_Mutation_p.W1723S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2473					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TACTTTTATCCAAGGGCAATC	0.373																																						dbGAP											0													115.0	114.0	115.0					13																	23910597		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7418G>C	13.37:g.23910597C>G	ENSP00000371729:p.Trp2473Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.W2473S	ENST00000382292.3	37	c.7418	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701590	0.68501	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93189	-3.18;-3.18;-3.18	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.69823	2.125	0.80722	D	1	P	0.38420	0.63	B	0.33196	0.159	D	0.92723	0.6193	10	0.59425	D	0.04	.	19.6023	0.95568	0.0:1.0:0.0:0.0	.	2473	Q9NZJ4	SACS_HUMAN	S	2473;1723;2473	ENSP00000371729:W2473S;ENSP00000385844:W1723S;ENSP00000371735:W2473S	ENSP00000371729:W2473S	W	-	2	0	SACS	22808597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.653000	0.90120	0.561000	0.74099	TGG	SACS	-	NULL	ENSG00000151835		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	133	0.00	0	C	NM_014363		23910597	23910597	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	116	13.33	18	SNP	1.000	G
TCF4	6925	genome.wustl.edu	37	18	52928746	52928746	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr18:52928746G>A	ENST00000356073.4	-	12	1552	c.941C>T	c.(940-942)gCa>gTa	p.A314V	TCF4_ENST00000567880.1_Missense_Mutation_p.A254V|TCF4_ENST00000564228.1_Missense_Mutation_p.A243V|TCF4_ENST00000540999.1_Missense_Mutation_p.A290V|TCF4_ENST00000568740.1_Missense_Mutation_p.A289V|TCF4_ENST00000561831.3_Missense_Mutation_p.A154V|TCF4_ENST00000354452.3_Missense_Mutation_p.A314V|TCF4_ENST00000561992.1_Missense_Mutation_p.A184V|TCF4_ENST00000570177.2_Missense_Mutation_p.A184V|TCF4_ENST00000457482.3_Missense_Mutation_p.A154V|TCF4_ENST00000566279.1_Missense_Mutation_p.A254V|TCF4_ENST00000543082.1_Missense_Mutation_p.A272V|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537578.1_Missense_Mutation_p.A290V|TCF4_ENST00000565018.2_Missense_Mutation_p.A314V|TCF4_ENST00000537856.3_Missense_Mutation_p.A184V|TCF4_ENST00000544241.2_Missense_Mutation_p.A243V|TCF4_ENST00000568673.1_Missense_Mutation_p.A290V|TCF4_ENST00000398339.1_Missense_Mutation_p.A416V|TCF4_ENST00000564999.1_Missense_Mutation_p.A314V|TCF4_ENST00000564403.2_Missense_Mutation_p.A320V|TCF4_ENST00000570287.2_Missense_Mutation_p.A154V|TCF4_ENST00000566286.1_Missense_Mutation_p.A312V	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	314					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTGCCGGCTGCCCCGCTTCC	0.458																																						dbGAP											0													140.0	158.0	152.0					18																	52928746		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.941C>T	18.37:g.52928746G>A	ENSP00000348374:p.Ala314Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Nonsense_Mutation	SNP	NULL	p.Q69*	ENST00000356073.4	37	c.205	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097097	0.76870	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	L	0.54908	1.71	0.80722	D	1	B;B;P;P;P;B;B;B;B	0.38420	0.023;0.138;0.624;0.63;0.594;0.042;0.042;0.433;0.383	B;B;B;B;B;B;B;B;B	0.41332	0.06;0.166;0.341;0.354;0.164;0.086;0.086;0.156;0.045	T	0.52003	-0.8633	10	0.59425	D	0.04	-11.574	19.2296	0.93833	0.0:0.0:1.0:0.0	.	290;314;154;416;314;272;243;154;312	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	V	314;154;314;272;290;290;243;184;416	ENSP00000346440:A314V;ENSP00000409447:A154V;ENSP00000348374:A314V;ENSP00000439656:A272V;ENSP00000445202:A290V;ENSP00000440731:A290V;ENSP00000441562:A243V;ENSP00000439827:A184V;ENSP00000381382:A416V	ENSP00000346440:A314V	A	-	2	0	TCF4	51079744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.069000	0.93967	2.835000	0.97688	0.650000	0.86243	GCA	TCF4	-	NULL	ENSG00000196628		0.458	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	47	0.00	0	G	NM_003199		52928746	52928746	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570146	ensembl	human	putative	69_37n	nonsense	57	13.64	9	SNP	1.000	A
TCF4	6925	genome.wustl.edu	37	18	52928746	52928746	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr18:52928746G>A	ENST00000356073.4	-	12	1552	c.941C>T	c.(940-942)gCa>gTa	p.A314V	TCF4_ENST00000567880.1_Missense_Mutation_p.A254V|TCF4_ENST00000564228.1_Missense_Mutation_p.A243V|TCF4_ENST00000540999.1_Missense_Mutation_p.A290V|TCF4_ENST00000568740.1_Missense_Mutation_p.A289V|TCF4_ENST00000561831.3_Missense_Mutation_p.A154V|TCF4_ENST00000354452.3_Missense_Mutation_p.A314V|TCF4_ENST00000561992.1_Missense_Mutation_p.A184V|TCF4_ENST00000570177.2_Missense_Mutation_p.A184V|TCF4_ENST00000457482.3_Missense_Mutation_p.A154V|TCF4_ENST00000566279.1_Missense_Mutation_p.A254V|TCF4_ENST00000543082.1_Missense_Mutation_p.A272V|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537578.1_Missense_Mutation_p.A290V|TCF4_ENST00000565018.2_Missense_Mutation_p.A314V|TCF4_ENST00000537856.3_Missense_Mutation_p.A184V|TCF4_ENST00000544241.2_Missense_Mutation_p.A243V|TCF4_ENST00000568673.1_Missense_Mutation_p.A290V|TCF4_ENST00000398339.1_Missense_Mutation_p.A416V|TCF4_ENST00000564999.1_Missense_Mutation_p.A314V|TCF4_ENST00000564403.2_Missense_Mutation_p.A320V|TCF4_ENST00000570287.2_Missense_Mutation_p.A154V|TCF4_ENST00000566286.1_Missense_Mutation_p.A312V	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	314					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTGCCGGCTGCCCCGCTTCC	0.458																																						dbGAP											0													140.0	158.0	152.0					18																	52928746		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.941C>T	18.37:g.52928746G>A	ENSP00000348374:p.Ala314Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Nonsense_Mutation	SNP	NULL	p.Q69*	ENST00000356073.4	37	c.205	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097097	0.76870	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	L	0.54908	1.71	0.80722	D	1	B;B;P;P;P;B;B;B;B	0.38420	0.023;0.138;0.624;0.63;0.594;0.042;0.042;0.433;0.383	B;B;B;B;B;B;B;B;B	0.41332	0.06;0.166;0.341;0.354;0.164;0.086;0.086;0.156;0.045	T	0.52003	-0.8633	10	0.59425	D	0.04	-11.574	19.2296	0.93833	0.0:0.0:1.0:0.0	.	290;314;154;416;314;272;243;154;312	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	V	314;154;314;272;290;290;243;184;416	ENSP00000346440:A314V;ENSP00000409447:A154V;ENSP00000348374:A314V;ENSP00000439656:A272V;ENSP00000445202:A290V;ENSP00000440731:A290V;ENSP00000441562:A243V;ENSP00000439827:A184V;ENSP00000381382:A416V	ENSP00000346440:A314V	A	-	2	0	TCF4	51079744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.069000	0.93967	2.835000	0.97688	0.650000	0.86243	GCA	TCF4	-	NULL	ENSG00000196628		0.458	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	47	0.00	0	G	NM_003199		52928746	52928746	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570146	ensembl	human	putative	69_37n	nonsense	57	13.64	9	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"""	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82.0	74.0	76.0					17																	7578290		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.560-1G>A	17.37:g.7578290C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	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	Splice_Site	SNP	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	136	0.00	0	C	NM_000546	Intron	7578290	7578290	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	95	31.65	44	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"""	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82.0	74.0	76.0					17																	7578290		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.560-1G>A	17.37:g.7578290C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	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	Splice_Site	SNP	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	152	0.00	0	C	NM_000546	Intron	7578290	7578290	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	95	31.65	44	SNP	1.000	T
TPST1	8460	genome.wustl.edu	37	7	65705728	65705728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr7:65705728C>T	ENST00000304842.5	+	2	741	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	106					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.R106R(1)|p.R106*(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGTCATTCCCCGAATCCTGGC	0.537																																						dbGAP											2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)											94.0	92.0	93.0					7																	65705728		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.316C>T	7.37:g.65705728C>T	ENSP00000302413:p.Arg106*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R106*	ENST00000304842.5	37	c.316	CCDS5533.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.967402	0.97971	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5558	15.4178	0.74983	0.1394:0.8606:0.0:0.0	.	.	.	.	X	106	.	ENSP00000302413:R106X	R	+	1	2	TPST1	65343163	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.270000	0.51600	2.723000	0.93209	0.585000	0.79938	CGA	TPST1	-	pfam_Sulfotransferase_dom	ENSG00000169902		0.537	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2	93	0.00	0	C	NM_003596		65705728	65705728	+1	no_errors	ENST00000304842	ensembl	human	known	69_37n	nonsense	120	15.49	22	SNP	1.000	T
TPST1	8460	genome.wustl.edu	37	7	65705728	65705728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr7:65705728C>T	ENST00000304842.5	+	2	741	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	106					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.R106R(1)|p.R106*(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGTCATTCCCCGAATCCTGGC	0.537																																						dbGAP											2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)											94.0	92.0	93.0					7																	65705728		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.316C>T	7.37:g.65705728C>T	ENSP00000302413:p.Arg106*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R106*	ENST00000304842.5	37	c.316	CCDS5533.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.967402	0.97971	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5558	15.4178	0.74983	0.1394:0.8606:0.0:0.0	.	.	.	.	X	106	.	ENSP00000302413:R106X	R	+	1	2	TPST1	65343163	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.270000	0.51600	2.723000	0.93209	0.585000	0.79938	CGA	TPST1	-	pfam_Sulfotransferase_dom	ENSG00000169902		0.537	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2	106	0.00	0	C	NM_003596		65705728	65705728	+1	no_errors	ENST00000304842	ensembl	human	known	69_37n	nonsense	120	15.49	22	SNP	1.000	T
VPS53	55275	genome.wustl.edu	37	17	505056	505056	+	Silent	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	b3a3a5b7-80bf-49fa-8d4f-ad3086209295	g.chr17:505056C>T	ENST00000571805.1	-	12	1333	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	VPS53_ENST00000291074.5_Silent_p.T370T|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000401468.3_Silent_p.T122T|VPS53_ENST00000437048.2_Silent_p.T399T|VPS53_ENST00000446250.2_Silent_p.T201T			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	399					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CTCCTTTCTCCGTTGCCAGTT	0.473																																						dbGAP											0													258.0	241.0	246.0					17																	505056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1197G>A	17.37:g.505056C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.T399	ENST00000571805.1	37	c.1197		17																																																																																			VPS53	-	pfam_Vps53_N	ENSG00000141252		0.473	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	350	0.00	0	C	NM_018289		505056	505056	-1	no_errors	ENST00000437048	ensembl	human	known	69_37n	silent	315	12.01	43	SNP	0.005	T
VPS53	55275	genome.wustl.edu	37	17	505056	505056	+	Silent	SNP	C	C	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr17:505056C>T	ENST00000571805.1	-	12	1333	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	VPS53_ENST00000291074.5_Silent_p.T370T|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000401468.3_Silent_p.T122T|VPS53_ENST00000437048.2_Silent_p.T399T|VPS53_ENST00000446250.2_Silent_p.T201T			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	399					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CTCCTTTCTCCGTTGCCAGTT	0.473																																						dbGAP											0													258.0	241.0	246.0					17																	505056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1197G>A	17.37:g.505056C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.T399	ENST00000571805.1	37	c.1197		17																																																																																			VPS53	-	pfam_Vps53_N	ENSG00000141252		0.473	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	356	0.00	0	C	NM_018289		505056	505056	-1	no_errors	ENST00000437048	ensembl	human	known	69_37n	silent	315	12.01	43	SNP	0.005	T
WNT7A	7476	genome.wustl.edu	37	3	13860453	13860453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B7-01A-12D-A10Y-09	TCGA-BH-A0B7-11A-34D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2627cdc1-dc02-4816-8628-cab8c8e79139	5fcc5f15-40eb-496a-9224-b945b471c43e	g.chr3:13860453G>T	ENST00000285018.4	-	4	1342	c.1038C>A	c.(1036-1038)taC>taA	p.Y346*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	346					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACTTGCACGTGTACATCTCCG	0.607																																						dbGAP											0													46.0	37.0	40.0					3																	13860453		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.1038C>A	3.37:g.13860453G>T	ENSP00000285018:p.Tyr346*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H90|Q9Y560	Nonsense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.Y346*	ENST00000285018.4	37	c.1038	CCDS2616.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.824132	0.97865	.	.	ENSG00000154764	ENST00000285018	.	.	.	4.46	3.57	0.40892	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.49687	D	0.999816	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	9.9301	0.41517	0.1761:0.0:0.8239:0.0	.	.	.	.	X	346	.	ENSP00000285018:Y346X	Y	-	3	2	WNT7A	13835454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.564000	0.23563	0.823000	0.34589	0.563000	0.77884	TAC	WNT7A	-	pfam_Wnt,smart_Wnt	ENSG00000154764		0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	53	0.00	0	G	NM_004625		13860453	13860453	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	nonsense	36	10.00	4	SNP	1.000	T
