#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACE	1636	genome.wustl.edu	37	17	61557164	61557164	+	Frame_Shift_Del	DEL	C	C	-	rs200127371		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr17:61557164delC	ENST00000290866.4	+	4	570	c.546delC	c.(544-546)tacfs	p.Y182fs	ACE_ENST00000538928.1_Frame_Shift_Del_p.Y182fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Del_p.Y182fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	182	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCGAAGCTACGCCATGCTCC	0.592																																						dbGAP											0													125.0	88.0	101.0					17																	61557164		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.546delC	17.37:g.61557164delC	ENSP00000290866:p.Tyr182fs		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	pfam_Peptidase_M2,prints_Peptidase_M2	p.Y182fs	ENST00000290866.4	37	c.546	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.592	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	25	0.00	0	C			61557164	61557164	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.117	-
ACE	1636	genome.wustl.edu	37	17	61557164	61557164	+	Frame_Shift_Del	DEL	C	C	-	rs200127371		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr17:61557164delC	ENST00000290866.4	+	4	570	c.546delC	c.(544-546)tacfs	p.Y182fs	ACE_ENST00000538928.1_Frame_Shift_Del_p.Y182fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Del_p.Y182fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	182	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCGAAGCTACGCCATGCTCC	0.592																																						dbGAP											0													125.0	88.0	101.0					17																	61557164		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.546delC	17.37:g.61557164delC	ENSP00000290866:p.Tyr182fs		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	pfam_Peptidase_M2,prints_Peptidase_M2	p.Y182fs	ENST00000290866.4	37	c.546	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.592	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	20	0.00	0	C			61557164	61557164	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.117	-
ALK	238	genome.wustl.edu	37	2	29432665	29432665	+	Nonsense_Mutation	SNP	G	G	A	rs543620241		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr2:29432665G>A	ENST00000389048.3	-	25	4729	c.3823C>T	c.(3823-3825)Cga>Tga	p.R1275*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (observed in neuroblastoma). {ECO:0000269|PubMed:18923523}.|R -> Q (in NBLST3; constitutively activated; retained in the endoplasmic reticulum and Golgi compartments). {ECO:0000269|PubMed:18724359, ECO:0000269|PubMed:18923523, ECO:0000269|PubMed:18923525}.		activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TAGATGTCTCGGGCCATCCCG	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													100.0	93.0	95.0					2																	29432665		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3823C>T	2.37:g.29432665G>A	ENSP00000373700:p.Arg1275*		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1275*	ENST00000389048.3	37	c.3823	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	50	16.070020	0.99853	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.47	4.54	0.55810	.	0.000000	0.40728	N	0.001036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9697	0.64233	0.0:0.0:0.8475:0.1525	.	.	.	.	X	1275	.	.	R	-	1	2	ALK	29286169	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.388000	0.52509	2.560000	0.86352	0.655000	0.94253	CGA	ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000171094		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	69	0.00	0	G	NM_004304		29432665	29432665	-1	no_errors	ENST00000389048	ensembl	human	known	69_37n	nonsense	32	17.95	7	SNP	1.000	A
ALK	238	genome.wustl.edu	37	2	29432665	29432665	+	Nonsense_Mutation	SNP	G	G	A	rs543620241		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr2:29432665G>A	ENST00000389048.3	-	25	4729	c.3823C>T	c.(3823-3825)Cga>Tga	p.R1275*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (observed in neuroblastoma). {ECO:0000269|PubMed:18923523}.|R -> Q (in NBLST3; constitutively activated; retained in the endoplasmic reticulum and Golgi compartments). {ECO:0000269|PubMed:18724359, ECO:0000269|PubMed:18923523, ECO:0000269|PubMed:18923525}.		activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TAGATGTCTCGGGCCATCCCG	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													100.0	93.0	95.0					2																	29432665		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3823C>T	2.37:g.29432665G>A	ENSP00000373700:p.Arg1275*		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1275*	ENST00000389048.3	37	c.3823	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	50	16.070020	0.99853	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.47	4.54	0.55810	.	0.000000	0.40728	N	0.001036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9697	0.64233	0.0:0.0:0.8475:0.1525	.	.	.	.	X	1275	.	.	R	-	1	2	ALK	29286169	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.388000	0.52509	2.560000	0.86352	0.655000	0.94253	CGA	ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000171094		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	46	0.00	0	G	NM_004304		29432665	29432665	-1	no_errors	ENST00000389048	ensembl	human	known	69_37n	nonsense	32	17.95	7	SNP	1.000	A
ARSB	411	genome.wustl.edu	37	5	78181573	78181573	+	Missense_Mutation	SNP	C	C	T	rs529444755		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr5:78181573C>T	ENST00000264914.4	-	5	1512	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	ARSB_ENST00000565165.1_Missense_Mutation_p.V326I|ARSB_ENST00000396151.3_Missense_Mutation_p.V326I|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	326					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ACCCCTCGGACGCCTCCTTCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		15334	0.0		0.0	False		,,,				2504	0.001				Melanoma(169;563 1968 25780 26156 52266)	dbGAP											0													94.0	97.0	96.0					5																	78181573		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.976G>A	5.37:g.78181573C>T	ENSP00000264914:p.Val326Ile		B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.V326I	ENST00000264914.4	37	c.976	CCDS4043.1	5	.	.	.	.	.	.	.	.	.	.	C	6.637	0.486033	0.12641	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98493	-4.96;-4.96	5.46	-2.93	0.05598	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.473004	0.23192	N	0.050899	D	0.90366	0.6985	N	0.02973	-0.45	0.09310	N	0.999999	B;B	0.15719	0.014;0.01	B;B	0.15870	0.003;0.014	T	0.82129	-0.0610	10	0.08179	T	0.78	.	12.6215	0.56605	0.0:0.4132:0.0:0.5868	.	326;326	Q8N322;P15848	.;ARSB_HUMAN	I	326	ENSP00000264914:V326I;ENSP00000379455:V326I	ENSP00000264914:V326I	V	-	1	0	ARSB	78217329	0.001000	0.12720	0.003000	0.11579	0.965000	0.64279	-0.026000	0.12392	-0.477000	0.06832	-0.224000	0.12420	GTC	ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.567	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	304	0.00	0	C	NM_000046		78181573	78181573	-1	no_errors	ENST00000264914	ensembl	human	known	69_37n	missense	129	24.12	41	SNP	0.000	T
ARSB	411	genome.wustl.edu	37	5	78181573	78181573	+	Missense_Mutation	SNP	C	C	T	rs529444755		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr5:78181573C>T	ENST00000264914.4	-	5	1512	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	ARSB_ENST00000565165.1_Missense_Mutation_p.V326I|ARSB_ENST00000396151.3_Missense_Mutation_p.V326I|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	326					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ACCCCTCGGACGCCTCCTTCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		15334	0.0		0.0	False		,,,				2504	0.001				Melanoma(169;563 1968 25780 26156 52266)	dbGAP											0													94.0	97.0	96.0					5																	78181573		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.976G>A	5.37:g.78181573C>T	ENSP00000264914:p.Val326Ile		B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.V326I	ENST00000264914.4	37	c.976	CCDS4043.1	5	.	.	.	.	.	.	.	.	.	.	C	6.637	0.486033	0.12641	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98493	-4.96;-4.96	5.46	-2.93	0.05598	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.473004	0.23192	N	0.050899	D	0.90366	0.6985	N	0.02973	-0.45	0.09310	N	0.999999	B;B	0.15719	0.014;0.01	B;B	0.15870	0.003;0.014	T	0.82129	-0.0610	10	0.08179	T	0.78	.	12.6215	0.56605	0.0:0.4132:0.0:0.5868	.	326;326	Q8N322;P15848	.;ARSB_HUMAN	I	326	ENSP00000264914:V326I;ENSP00000379455:V326I	ENSP00000264914:V326I	V	-	1	0	ARSB	78217329	0.001000	0.12720	0.003000	0.11579	0.965000	0.64279	-0.026000	0.12392	-0.477000	0.06832	-0.224000	0.12420	GTC	ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.567	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	200	0.00	0	C	NM_000046		78181573	78181573	-1	no_errors	ENST00000264914	ensembl	human	known	69_37n	missense	129	24.12	41	SNP	0.000	T
C1orf122	127687	genome.wustl.edu	37	1	38274781	38274781	+	3'UTR	SNP	C	C	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr1:38274781C>A	ENST00000373042.4	+	0	628				C1orf122_ENST00000446260.2_Missense_Mutation_p.S152Y|YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000468084.1_3'UTR|C1orf122_ENST00000373043.1_3'UTR			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122											kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				TTCTCTCCCTCCCCAGGGCCG	0.622																																						dbGAP											0													62.0	64.0	63.0					1																	38274781		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.*36C>A	1.37:g.38274781C>A			A2RQF4|E9PQ13|Q56A71	Missense_Mutation	SNP	NULL	p.S152Y	ENST00000373042.4	37	c.455	CCDS427.2	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983602	0.35036	.	.	ENSG00000197982	ENST00000446260	.	.	.	4.56	3.63	0.41609	.	0.000000	0.36555	N	0.002527	T	0.26340	0.0643	.	.	.	0.24240	N	0.995367	P	0.47302	0.893	P	0.47981	0.563	T	0.08310	-1.0728	8	0.08599	T	0.76	.	8.3994	0.32576	0.0:0.8843:0.0:0.1157	.	152	Q5VSH5	.	Y	152	.	ENSP00000389807:S152Y	S	+	2	0	C1orf122	38047368	0.934000	0.31675	0.992000	0.48379	0.972000	0.66771	1.999000	0.40806	1.168000	0.42723	0.563000	0.77884	TCC	C1orf122	-	NULL	ENSG00000197982		0.622	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf122	HGNC	protein_coding	OTTHUMT00000012471.2	61	0.00	0	C	NM_198446		38274781	38274781	+1	no_errors	ENST00000446260	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.997	A
C1orf122	127687	genome.wustl.edu	37	1	38274781	38274781	+	3'UTR	SNP	C	C	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr1:38274781C>A	ENST00000373042.4	+	0	628				C1orf122_ENST00000446260.2_Missense_Mutation_p.S152Y|YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000468084.1_3'UTR|C1orf122_ENST00000373043.1_3'UTR			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122											kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				TTCTCTCCCTCCCCAGGGCCG	0.622																																						dbGAP											0													62.0	64.0	63.0					1																	38274781		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.*36C>A	1.37:g.38274781C>A			A2RQF4|E9PQ13|Q56A71	Missense_Mutation	SNP	NULL	p.S152Y	ENST00000373042.4	37	c.455	CCDS427.2	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983602	0.35036	.	.	ENSG00000197982	ENST00000446260	.	.	.	4.56	3.63	0.41609	.	0.000000	0.36555	N	0.002527	T	0.26340	0.0643	.	.	.	0.24240	N	0.995367	P	0.47302	0.893	P	0.47981	0.563	T	0.08310	-1.0728	8	0.08599	T	0.76	.	8.3994	0.32576	0.0:0.8843:0.0:0.1157	.	152	Q5VSH5	.	Y	152	.	ENSP00000389807:S152Y	S	+	2	0	C1orf122	38047368	0.934000	0.31675	0.992000	0.48379	0.972000	0.66771	1.999000	0.40806	1.168000	0.42723	0.563000	0.77884	TCC	C1orf122	-	NULL	ENSG00000197982		0.622	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf122	HGNC	protein_coding	OTTHUMT00000012471.2	64	0.00	0	C	NM_198446		38274781	38274781	+1	no_errors	ENST00000446260	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.997	A
EPRS	2058	genome.wustl.edu	37	1	220162120	220162121	+	In_Frame_Ins	INS	-	-	ATC			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr1:220162120_220162121insATC	ENST00000366923.3	-	19	2855_2856	c.2586_2587insGAT	c.(2584-2589)gctcag>gctGATcag	p.862_863AQ>ADQ	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	862	3 X 57 AA approximate repeats.|WHEP-TRS 2.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TCTTTATACTGAGCCTTCAGGG	0.366																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2586_2587insGAT	1.37:g.220162120_220162121insATC	ENSP00000355890:p.Ala862_Gln863insAsp		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	In_Frame_Ins	INS	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.862in_frame_insD	ENST00000366923.3	37	c.2587_2586	CCDS31027.1	1																																																																																			EPRS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000136628		0.366	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	143	0.00	0	-	NM_004446		220162120	220162121	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	in_frame_ins	82	47.77	75	INS	1.000:0.995	ATC
FGD2	221472	genome.wustl.edu	37	6	36976680	36976680	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr6:36976680G>A	ENST00000274963.8	+	2	310	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	47					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGGCCTCCCGAGTCCCCAGG	0.627																																						dbGAP											0													56.0	59.0	58.0					6																	36976680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.139G>A	6.37:g.36976680G>A	ENSP00000274963:p.Glu47Lys		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E47K	ENST00000274963.8	37	c.139	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	G	0.845	-0.740461	0.03088	.	.	ENSG00000146192	ENST00000274963	T	0.58210	0.35	4.77	-3.52	0.04682	.	2.372640	0.01649	N	0.024463	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B;B;B	0.18461	0.004;0.028;0.004	B;B;B	0.09377	0.004;0.002;0.004	T	0.04635	-1.0937	10	0.06236	T	0.91	-0.8873	0.3471	0.00343	0.3415:0.2156:0.2212:0.2217	.	47;47;47	B4DV77;Q7Z6J4;F8WEZ2	.;FGD2_HUMAN;.	K	47	ENSP00000274963:E47K	ENSP00000274963:E47K	E	+	1	0	FGD2	37084658	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.235000	0.09016	-1.149000	0.02843	-2.352000	0.00242	GAG	FGD2	-	NULL	ENSG00000146192		0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	70	0.00	0	G	NM_173558		36976680	36976680	+1	no_errors	ENST00000274963	ensembl	human	known	69_37n	missense	37	36.21	21	SNP	0.000	A
FGD2	221472	genome.wustl.edu	37	6	36976680	36976680	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr6:36976680G>A	ENST00000274963.8	+	2	310	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	47					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGGCCTCCCGAGTCCCCAGG	0.627																																						dbGAP											0													56.0	59.0	58.0					6																	36976680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.139G>A	6.37:g.36976680G>A	ENSP00000274963:p.Glu47Lys		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E47K	ENST00000274963.8	37	c.139	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	G	0.845	-0.740461	0.03088	.	.	ENSG00000146192	ENST00000274963	T	0.58210	0.35	4.77	-3.52	0.04682	.	2.372640	0.01649	N	0.024463	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B;B;B	0.18461	0.004;0.028;0.004	B;B;B	0.09377	0.004;0.002;0.004	T	0.04635	-1.0937	10	0.06236	T	0.91	-0.8873	0.3471	0.00343	0.3415:0.2156:0.2212:0.2217	.	47;47;47	B4DV77;Q7Z6J4;F8WEZ2	.;FGD2_HUMAN;.	K	47	ENSP00000274963:E47K	ENSP00000274963:E47K	E	+	1	0	FGD2	37084658	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.235000	0.09016	-1.149000	0.02843	-2.352000	0.00242	GAG	FGD2	-	NULL	ENSG00000146192		0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	62	0.00	0	G	NM_173558		36976680	36976680	+1	no_errors	ENST00000274963	ensembl	human	known	69_37n	missense	37	36.21	21	SNP	0.000	A
FOXD4L1	200350	genome.wustl.edu	37	2	114257266	114257266	+	Missense_Mutation	SNP	C	C	T	rs142136016	byFrequency	TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr2:114257266C>T	ENST00000306507.5	+	1	606	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	145					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R145C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCCCTACTACCGCCGCAAGTT	0.642																																						dbGAP											1	Substitution - Missense(1)	NS(1)											23.0	32.0	29.0					2																	114257266		2014	3973	5987	-	-	-	SO:0001583	missense	0			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.433C>T	2.37:g.114257266C>T	ENSP00000302756:p.Arg145Cys		B3KWN1|B9EGF3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R145C	ENST00000306507.5	37	c.433	CCDS2117.1	2	100	0.045787545787545784	17	0.034552845528455285	16	0.04419889502762431	27	0.0472027972027972	40	0.052770448548812667	.	12.80	2.046891	0.36085	.	.	ENSG00000184492	ENST00000306507	D	0.96491	-4.03	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.32161	U	0.006487	D	0.84995	0.5596	H	0.95402	3.665	0.58432	D	0.999998	B	0.28350	0.208	B	0.26969	0.075	D	0.88738	0.3241	10	0.72032	D	0.01	.	6.7523	0.23493	0.2797:0.7203:0.0:0.0	.	145	Q9NU39	FX4L1_HUMAN	C	145	ENSP00000302756:R145C	ENSP00000302756:R145C	R	+	1	0	FOXD4L1	113973736	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.151000	0.31651	1.452000	0.47756	0.184000	0.17185	CGC	FOXD4L1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000184492		0.642	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	70	0.00	0	C	NM_012184		114257266	114257266	+1	no_errors	ENST00000306507	ensembl	human	known	69_37n	missense	51	26.76	19	SNP	1.000	T
FRG1	2483	genome.wustl.edu	37	4	190874255	190874255	+	Missense_Mutation	SNP	A	A	T	rs17425201		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr4:190874255A>T	ENST00000226798.4	+	4	514	c.292A>T	c.(292-294)Acg>Tcg	p.T98S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	98					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T98S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAGCAGTTTACGGCTGTCAA	0.269																																						dbGAP											1	Substitution - Missense(1)	NS(1)																																								-	-	-	SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.292A>T	4.37:g.190874255A>T	ENSP00000226798:p.Thr98Ser		A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T98S	ENST00000226798.4	37	c.292	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815686	0.50527	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.52057	1.8;0.68	3.71	3.71	0.42584	Actin cross-linking (1);	0.093692	0.64402	D	0.000001	T	0.23926	0.0579	N	0.02539	-0.55	0.58432	D	0.999999	B	0.20261	0.043	B	0.27796	0.083	T	0.08207	-1.0733	10	0.39692	T	0.17	-1.9466	11.0497	0.47880	1.0:0.0:0.0:0.0	rs17425201	98	Q14331	FRG1_HUMAN	S	98;35	ENSP00000226798:T98S;ENSP00000435943:T35S	ENSP00000226798:T98S	T	+	1	0	FRG1	191111249	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.637000	0.74304	1.645000	0.50612	0.514000	0.50259	ACG	FRG1	-	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000109536		0.269	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	50	0.00	0	A	NM_004477		190874255	190874255	+1	no_errors	ENST00000226798	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	T
FRG1	2483	genome.wustl.edu	37	4	190874255	190874255	+	Missense_Mutation	SNP	A	A	T	rs17425201		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr4:190874255A>T	ENST00000226798.4	+	4	514	c.292A>T	c.(292-294)Acg>Tcg	p.T98S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	98					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T98S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAGCAGTTTACGGCTGTCAA	0.269																																						dbGAP											1	Substitution - Missense(1)	NS(1)																																								-	-	-	SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.292A>T	4.37:g.190874255A>T	ENSP00000226798:p.Thr98Ser		A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T98S	ENST00000226798.4	37	c.292	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815686	0.50527	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.52057	1.8;0.68	3.71	3.71	0.42584	Actin cross-linking (1);	0.093692	0.64402	D	0.000001	T	0.23926	0.0579	N	0.02539	-0.55	0.58432	D	0.999999	B	0.20261	0.043	B	0.27796	0.083	T	0.08207	-1.0733	10	0.39692	T	0.17	-1.9466	11.0497	0.47880	1.0:0.0:0.0:0.0	rs17425201	98	Q14331	FRG1_HUMAN	S	98;35	ENSP00000226798:T98S;ENSP00000435943:T35S	ENSP00000226798:T98S	T	+	1	0	FRG1	191111249	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.637000	0.74304	1.645000	0.50612	0.514000	0.50259	ACG	FRG1	-	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000109536		0.269	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	112	0.88	1	A	NM_004477		190874255	190874255	+1	no_errors	ENST00000226798	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	T
LAMA1	284217	genome.wustl.edu	37	18	7050726	7050726	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr18:7050726A>C	ENST00000389658.3	-	4	648	c.555T>G	c.(553-555)taT>taG	p.Y185*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	185	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCTGGAATAATAGGAGGTGC	0.498																																						dbGAP											0													125.0	106.0	112.0					18																	7050726		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.555T>G	18.37:g.7050726A>C	ENSP00000374309:p.Tyr185*			Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Y185*	ENST00000389658.3	37	c.555	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	A	37	6.258739	0.97421	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.96	1.03	0.20045	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3668	0.44028	0.6628:0.0:0.3372:0.0	.	.	.	.	X	185	.	ENSP00000374309:Y185X	Y	-	3	2	LAMA1	7040726	1.000000	0.71417	0.945000	0.38365	0.935000	0.57460	1.067000	0.30616	0.157000	0.19338	-0.274000	0.10170	TAT	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	149	0.00	0	A	NM_005559		7050726	7050726	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	nonsense	105	17.69	23	SNP	0.998	C
LAMA1	284217	genome.wustl.edu	37	18	7050726	7050726	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr18:7050726A>C	ENST00000389658.3	-	4	648	c.555T>G	c.(553-555)taT>taG	p.Y185*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	185	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCTGGAATAATAGGAGGTGC	0.498																																						dbGAP											0													125.0	106.0	112.0					18																	7050726		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.555T>G	18.37:g.7050726A>C	ENSP00000374309:p.Tyr185*			Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Y185*	ENST00000389658.3	37	c.555	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	A	37	6.258739	0.97421	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.96	1.03	0.20045	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3668	0.44028	0.6628:0.0:0.3372:0.0	.	.	.	.	X	185	.	ENSP00000374309:Y185X	Y	-	3	2	LAMA1	7040726	1.000000	0.71417	0.945000	0.38365	0.935000	0.57460	1.067000	0.30616	0.157000	0.19338	-0.274000	0.10170	TAT	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	112	0.00	0	A	NM_005559		7050726	7050726	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	nonsense	105	17.69	23	SNP	0.998	C
MUC17	140453	genome.wustl.edu	37	7	100683830	100683830	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr7:100683830A>T	ENST00000306151.4	+	3	9197	c.9133A>T	c.(9133-9135)Agt>Tgt	p.S3045C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3045	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGTGAAGGAAGTACTCCATT	0.507																																						dbGAP											0													270.0	281.0	277.0					7																	100683830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9133A>T	7.37:g.100683830A>T	ENSP00000302716:p.Ser3045Cys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S3045C	ENST00000306151.4	37	c.9133	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	a	5.298	0.240444	0.10023	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	0.321	0.321	0.15883	.	.	.	.	.	T	0.05456	0.0144	L	0.32530	0.975	0.09310	N	1	D	0.63046	0.992	P	0.60117	0.869	T	0.40776	-0.9545	9	0.62326	D	0.03	.	5.0574	0.14540	0.9998:0.0:2.0E-4:0.0	.	3045	Q685J3	MUC17_HUMAN	C	3045	ENSP00000302716:S3045C	ENSP00000302716:S3045C	S	+	1	0	MUC17	100470550	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.591000	0.02100	0.360000	0.24265	0.102000	0.15555	AGT	MUC17	-	NULL	ENSG00000169876		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	361	0.28	1	A	NM_001040105		100683830	100683830	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	265	17.19	55	SNP	0.003	T
MUC17	140453	genome.wustl.edu	37	7	100683830	100683830	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr7:100683830A>T	ENST00000306151.4	+	3	9197	c.9133A>T	c.(9133-9135)Agt>Tgt	p.S3045C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3045	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGTGAAGGAAGTACTCCATT	0.507																																						dbGAP											0													270.0	281.0	277.0					7																	100683830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9133A>T	7.37:g.100683830A>T	ENSP00000302716:p.Ser3045Cys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S3045C	ENST00000306151.4	37	c.9133	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	a	5.298	0.240444	0.10023	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	0.321	0.321	0.15883	.	.	.	.	.	T	0.05456	0.0144	L	0.32530	0.975	0.09310	N	1	D	0.63046	0.992	P	0.60117	0.869	T	0.40776	-0.9545	9	0.62326	D	0.03	.	5.0574	0.14540	0.9998:0.0:2.0E-4:0.0	.	3045	Q685J3	MUC17_HUMAN	C	3045	ENSP00000302716:S3045C	ENSP00000302716:S3045C	S	+	1	0	MUC17	100470550	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.591000	0.02100	0.360000	0.24265	0.102000	0.15555	AGT	MUC17	-	NULL	ENSG00000169876		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	352	0.00	0	A	NM_001040105		100683830	100683830	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	265	17.19	55	SNP	0.003	T
MXRA5	25878	genome.wustl.edu	37	X	3238686	3238686	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chrX:3238686T>G	ENST00000217939.6	-	5	5194	c.5040A>C	c.(5038-5040)aaA>aaC	p.K1680N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1680						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATGCTGGGTTTGGACATGT	0.413																																						dbGAP											0													172.0	163.0	166.0					X																	3238686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5040A>C	X.37:g.3238686T>G	ENSP00000217939:p.Lys1680Asn		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K1680N	ENST00000217939.6	37	c.5040	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	t	3.406	-0.121289	0.06838	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.06	-4.59	0.03400	.	1.394090	0.05119	U	0.490430	T	0.29223	0.0727	N	0.02539	-0.55	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.10823	-1.0613	10	0.18710	T	0.47	.	4.4484	0.11609	0.4727:0.1814:0.0:0.3459	.	1680	Q9NR99	MXRA5_HUMAN	N	1680	ENSP00000217939:K1680N	ENSP00000217939:K1680N	K	-	3	2	MXRA5	3248686	0.015000	0.18098	0.000000	0.03702	0.004000	0.04260	-0.699000	0.05087	-0.715000	0.04968	-0.775000	0.03384	AAA	MXRA5	-	NULL	ENSG00000101825		0.413	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	669	0.30	2	T	NM_015419		3238686	3238686	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	326	17.26	68	SNP	0.000	G
MXRA5	25878	genome.wustl.edu	37	X	3238686	3238686	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chrX:3238686T>G	ENST00000217939.6	-	5	5194	c.5040A>C	c.(5038-5040)aaA>aaC	p.K1680N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1680						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATGCTGGGTTTGGACATGT	0.413																																						dbGAP											0													172.0	163.0	166.0					X																	3238686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5040A>C	X.37:g.3238686T>G	ENSP00000217939:p.Lys1680Asn		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K1680N	ENST00000217939.6	37	c.5040	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	t	3.406	-0.121289	0.06838	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.06	-4.59	0.03400	.	1.394090	0.05119	U	0.490430	T	0.29223	0.0727	N	0.02539	-0.55	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.10823	-1.0613	10	0.18710	T	0.47	.	4.4484	0.11609	0.4727:0.1814:0.0:0.3459	.	1680	Q9NR99	MXRA5_HUMAN	N	1680	ENSP00000217939:K1680N	ENSP00000217939:K1680N	K	-	3	2	MXRA5	3248686	0.015000	0.18098	0.000000	0.03702	0.004000	0.04260	-0.699000	0.05087	-0.715000	0.04968	-0.775000	0.03384	AAA	MXRA5	-	NULL	ENSG00000101825		0.413	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	353	0.56	2	T	NM_015419		3238686	3238686	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	326	17.26	68	SNP	0.000	G
MXRA5	25878	genome.wustl.edu	37	X	3239606	3239606	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chrX:3239606A>T	ENST00000217939.6	-	5	4274	c.4120T>A	c.(4120-4122)Ttt>Att	p.F1374I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1374						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTCCTGGAAAGCCTACAGGA	0.488																																						dbGAP											0													41.0	40.0	40.0					X																	3239606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4120T>A	X.37:g.3239606A>T	ENSP00000217939:p.Phe1374Ile		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F1374I	ENST00000217939.6	37	c.4120	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	a	6.305	0.424314	0.11928	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62498	0.02	2.92	-1.26	0.09376	.	0.915032	0.08979	U	0.866002	T	0.40645	0.1125	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.16453	-1.0402	10	0.33940	T	0.23	.	3.3068	0.07002	0.5379:0.2082:0.2539:0.0	.	1374	Q9NR99	MXRA5_HUMAN	I	1374	ENSP00000217939:F1374I	ENSP00000217939:F1374I	F	-	1	0	MXRA5	3249606	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	0.891000	0.28309	-0.287000	0.09064	0.356000	0.21956	TTT	MXRA5	-	NULL	ENSG00000101825		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	174	0.00	0	A	NM_015419		3239606	3239606	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	95	20.83	25	SNP	0.000	T
MXRA5	25878	genome.wustl.edu	37	X	3239606	3239606	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chrX:3239606A>T	ENST00000217939.6	-	5	4274	c.4120T>A	c.(4120-4122)Ttt>Att	p.F1374I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1374						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTCCTGGAAAGCCTACAGGA	0.488																																						dbGAP											0													41.0	40.0	40.0					X																	3239606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4120T>A	X.37:g.3239606A>T	ENSP00000217939:p.Phe1374Ile		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F1374I	ENST00000217939.6	37	c.4120	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	a	6.305	0.424314	0.11928	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62498	0.02	2.92	-1.26	0.09376	.	0.915032	0.08979	U	0.866002	T	0.40645	0.1125	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.16453	-1.0402	10	0.33940	T	0.23	.	3.3068	0.07002	0.5379:0.2082:0.2539:0.0	.	1374	Q9NR99	MXRA5_HUMAN	I	1374	ENSP00000217939:F1374I	ENSP00000217939:F1374I	F	-	1	0	MXRA5	3249606	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	0.891000	0.28309	-0.287000	0.09064	0.356000	0.21956	TTT	MXRA5	-	NULL	ENSG00000101825		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	103	0.00	0	A	NM_015419		3239606	3239606	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	95	20.83	25	SNP	0.000	T
NEB	4703	genome.wustl.edu	37	2	152501038	152501038	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr2:152501038G>A	ENST00000172853.10	-	56	7735	c.7588C>T	c.(7588-7590)Cct>Tct	p.P2530S	NEB_ENST00000409198.1_Missense_Mutation_p.P2530S|NEB_ENST00000427231.2_Missense_Mutation_p.P2530S|NEB_ENST00000604864.1_Missense_Mutation_p.P2530S|NEB_ENST00000397345.3_Missense_Mutation_p.P2530S|NEB_ENST00000603639.1_Missense_Mutation_p.P2530S			P20929	NEBU_HUMAN	nebulin	2530					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATCAACAGGAAGATCGTAA	0.383																																						dbGAP											0													173.0	161.0	165.0					2																	152501038		1842	4093	5935	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7588C>T	2.37:g.152501038G>A	ENSP00000172853:p.Pro2530Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.P2530S	ENST00000172853.10	37	c.7588		2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039588	0.35989	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05382	3.47;3.48;3.48;3.45	5.4	4.5	0.54988	.	0.123598	0.53938	D	0.000042	T	0.11452	0.0279	L	0.52573	1.65	0.80722	D	1	P	0.47545	0.897	P	0.53266	0.722	T	0.10753	-1.0616	10	0.07030	T	0.85	.	13.4121	0.60948	0.0:0.0:0.7144:0.2856	.	2530	P20929	NEBU_HUMAN	S	2530	ENSP00000386259:P2530S;ENSP00000380505:P2530S;ENSP00000416578:P2530S;ENSP00000172853:P2530S	ENSP00000172853:P2530S	P	-	1	0	NEB	152209284	0.991000	0.36638	0.994000	0.49952	0.976000	0.68499	3.446000	0.52928	1.374000	0.46228	0.557000	0.71058	CCT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		59	0.00	0	G	NM_004543		152501038	152501038	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	0.992	A
NEB	4703	genome.wustl.edu	37	2	152501038	152501038	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr2:152501038G>A	ENST00000172853.10	-	56	7735	c.7588C>T	c.(7588-7590)Cct>Tct	p.P2530S	NEB_ENST00000409198.1_Missense_Mutation_p.P2530S|NEB_ENST00000427231.2_Missense_Mutation_p.P2530S|NEB_ENST00000604864.1_Missense_Mutation_p.P2530S|NEB_ENST00000397345.3_Missense_Mutation_p.P2530S|NEB_ENST00000603639.1_Missense_Mutation_p.P2530S			P20929	NEBU_HUMAN	nebulin	2530					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATCAACAGGAAGATCGTAA	0.383																																						dbGAP											0													173.0	161.0	165.0					2																	152501038		1842	4093	5935	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7588C>T	2.37:g.152501038G>A	ENSP00000172853:p.Pro2530Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.P2530S	ENST00000172853.10	37	c.7588		2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039588	0.35989	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05382	3.47;3.48;3.48;3.45	5.4	4.5	0.54988	.	0.123598	0.53938	D	0.000042	T	0.11452	0.0279	L	0.52573	1.65	0.80722	D	1	P	0.47545	0.897	P	0.53266	0.722	T	0.10753	-1.0616	10	0.07030	T	0.85	.	13.4121	0.60948	0.0:0.0:0.7144:0.2856	.	2530	P20929	NEBU_HUMAN	S	2530	ENSP00000386259:P2530S;ENSP00000380505:P2530S;ENSP00000416578:P2530S;ENSP00000172853:P2530S	ENSP00000172853:P2530S	P	-	1	0	NEB	152209284	0.991000	0.36638	0.994000	0.49952	0.976000	0.68499	3.446000	0.52928	1.374000	0.46228	0.557000	0.71058	CCT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		82	0.00	0	G	NM_004543		152501038	152501038	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	0.992	A
TENM4	26011	genome.wustl.edu	37	11	78437179	78437179	+	Silent	SNP	C	C	A	rs369844183		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr11:78437179C>A	ENST00000278550.7	-	23	3957	c.3495G>T	c.(3493-3495)gcG>gcT	p.A1165A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1165					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAAGCTTGGACGCGTCAATTT	0.458																																						dbGAP											0													320.0	310.0	313.0					11																	78437179		1943	4136	6079	-	-	-	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3495G>T	11.37:g.78437179C>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A1165	ENST00000278550.7	37	c.3495	CCDS44688.1	11																																																																																			ODZ4	-	NULL	ENSG00000149256		0.458	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	246	0.00	0	C			78437179	78437179	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	326	12.37	46	SNP	0.971	A
TENM4	26011	genome.wustl.edu	37	11	78437179	78437179	+	Silent	SNP	C	C	A	rs369844183		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr11:78437179C>A	ENST00000278550.7	-	23	3957	c.3495G>T	c.(3493-3495)gcG>gcT	p.A1165A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1165					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAAGCTTGGACGCGTCAATTT	0.458																																						dbGAP											0													320.0	310.0	313.0					11																	78437179		1943	4136	6079	-	-	-	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3495G>T	11.37:g.78437179C>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A1165	ENST00000278550.7	37	c.3495	CCDS44688.1	11																																																																																			ODZ4	-	NULL	ENSG00000149256		0.458	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	253	0.39	1	C			78437179	78437179	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	326	12.37	46	SNP	0.971	A
RABGAP1	23637	genome.wustl.edu	37	9	125746848	125746848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr9:125746848G>T	ENST00000373647.4	+	3	369	c.235G>T	c.(235-237)Gaa>Taa	p.E79*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	79					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCAGCCAGGGGAAAAGGAGCT	0.478																																						dbGAP											0													121.0	100.0	107.0					9																	125746848		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.235G>T	9.37:g.125746848G>T	ENSP00000362751:p.Glu79*		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E79*	ENST00000373647.4	37	c.235	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981693	0.74474	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000402311	.	.	.	5.12	5.12	0.69794	.	0.553031	0.19431	N	0.114456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.2862	13.3073	0.60359	0.0:0.1587:0.8412:0.0	.	.	.	.	X	79	.	ENSP00000324973:E79X	E	+	1	0	RABGAP1	124786669	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.607000	0.46300	2.367000	0.80283	0.655000	0.94253	GAA	RABGAP1	-	NULL	ENSG00000011454		0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	78	0.00	0	G	NM_012197		125746848	125746848	+1	no_errors	ENST00000373647	ensembl	human	known	69_37n	nonsense	41	26.79	15	SNP	1.000	T
RABGAP1	23637	genome.wustl.edu	37	9	125746848	125746848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr9:125746848G>T	ENST00000373647.4	+	3	369	c.235G>T	c.(235-237)Gaa>Taa	p.E79*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	79					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCAGCCAGGGGAAAAGGAGCT	0.478																																						dbGAP											0													121.0	100.0	107.0					9																	125746848		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.235G>T	9.37:g.125746848G>T	ENSP00000362751:p.Glu79*		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E79*	ENST00000373647.4	37	c.235	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981693	0.74474	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000402311	.	.	.	5.12	5.12	0.69794	.	0.553031	0.19431	N	0.114456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.2862	13.3073	0.60359	0.0:0.1587:0.8412:0.0	.	.	.	.	X	79	.	ENSP00000324973:E79X	E	+	1	0	RABGAP1	124786669	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.607000	0.46300	2.367000	0.80283	0.655000	0.94253	GAA	RABGAP1	-	NULL	ENSG00000011454		0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	104	0.00	0	G	NM_012197		125746848	125746848	+1	no_errors	ENST00000373647	ensembl	human	known	69_37n	nonsense	41	26.79	15	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38941399	38941399	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr3:38941399G>A	ENST00000302328.3	-	13	2206	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R670C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R670C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R670C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	670					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAAGGAACGCAAGAATGGC	0.413																																						dbGAP											0													84.0	79.0	81.0					3																	38941399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2008C>T	3.37:g.38941399G>A	ENSP00000307599:p.Arg670Cys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R670C	ENST00000302328.3	37	c.2008	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578081	0.86645	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.65	4.76	0.60689	Ion transport (1);	0.302038	0.38058	N	0.001838	D	0.99227	0.9731	H	0.97440	4.005	0.23238	N	0.998067	D	0.89917	1.0	P	0.60345	0.873	D	0.96901	0.9660	10	0.87932	D	0	.	8.4278	0.32739	0.1093:0.1563:0.7344:0.0	.	670	Q9UI33	SCNBA_HUMAN	C	670	ENSP00000307599:R670C;ENSP00000400945:R670C;ENSP00000416757:R670C;ENSP00000408028:R670C	ENSP00000307599:R670C	R	-	1	0	SCN11A	38916403	0.187000	0.23238	0.008000	0.14137	0.914000	0.54420	2.591000	0.46163	1.484000	0.48361	0.650000	0.86243	CGT	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.413	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	123	0.79	1	G	NM_014139		38941399	38941399	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	missense	47	47.78	43	SNP	0.239	A
RHOA	387	genome.wustl.edu	37	3	49413010	49413010	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr3:49413010G>A	ENST00000418115.1	-	2	397	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RHOA_ENST00000422781.1_Missense_Mutation_p.R5W|RHOA_ENST00000454011.2_Missense_Mutation_p.R5W	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	5					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTTTCTTCCGGATGGCAGCC	0.473																																						dbGAP											0													103.0	95.0	98.0					3																	49413010		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.13C>T	3.37:g.49413010G>A	ENSP00000400175:p.Arg5Trp		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R5W	ENST00000418115.1	37	c.13	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961576	0.53400	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.72051	-0.45;1.68;-0.48;-0.62;2.04	5.89	-0.78	0.10969	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.69904	0.3163	M	0.78344	2.41	0.80722	D	1	B	0.24920	0.114	B	0.17098	0.017	T	0.67130	-0.5748	10	0.59425	D	0.04	.	17.5915	0.87998	0.0:0.0:0.2927:0.7073	.	5	P61586	RHOA_HUMAN	W	5	ENSP00000400175:R5W;ENSP00000394483:R5W;ENSP00000413587:R5W;ENSP00000408402:R5W;ENSP00000400747:R5W	ENSP00000400175:R5W	R	-	1	2	RHOA	49388014	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	0.905000	0.28504	-0.467000	0.06932	-0.318000	0.08688	CGG	RHOA	-	tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	150	0.66	1	G	NM_001664		49413010	49413010	-1	no_errors	ENST00000418115	ensembl	human	known	69_37n	missense	79	28.83	32	SNP	0.997	A
RHOA	387	genome.wustl.edu	37	3	49413010	49413010	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr3:49413010G>A	ENST00000418115.1	-	2	397	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RHOA_ENST00000422781.1_Missense_Mutation_p.R5W|RHOA_ENST00000454011.2_Missense_Mutation_p.R5W	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	5					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTTTCTTCCGGATGGCAGCC	0.473																																						dbGAP											0													103.0	95.0	98.0					3																	49413010		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.13C>T	3.37:g.49413010G>A	ENSP00000400175:p.Arg5Trp		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R5W	ENST00000418115.1	37	c.13	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961576	0.53400	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.72051	-0.45;1.68;-0.48;-0.62;2.04	5.89	-0.78	0.10969	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.69904	0.3163	M	0.78344	2.41	0.80722	D	1	B	0.24920	0.114	B	0.17098	0.017	T	0.67130	-0.5748	10	0.59425	D	0.04	.	17.5915	0.87998	0.0:0.0:0.2927:0.7073	.	5	P61586	RHOA_HUMAN	W	5	ENSP00000400175:R5W;ENSP00000394483:R5W;ENSP00000413587:R5W;ENSP00000408402:R5W;ENSP00000400747:R5W	ENSP00000400175:R5W	R	-	1	2	RHOA	49388014	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	0.905000	0.28504	-0.467000	0.06932	-0.318000	0.08688	CGG	RHOA	-	tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	125	0.79	1	G	NM_001664		49413010	49413010	-1	no_errors	ENST00000418115	ensembl	human	known	69_37n	missense	79	28.83	32	SNP	0.997	A
SDK1	221935	genome.wustl.edu	37	7	4285428	4285428	+	Silent	SNP	A	A	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr7:4285428A>C	ENST00000404826.2	+	44	6511	c.6372A>C	c.(6370-6372)tcA>tcC	p.S2124S	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.S2104S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2124					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGATGCATCAGAATCTGAGG	0.582																																						dbGAP											0													86.0	72.0	76.0					7																	4285428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6372A>C	7.37:g.4285428A>C			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S2124	ENST00000404826.2	37	c.6372	CCDS34590.1	7																																																																																			SDK1	-	NULL	ENSG00000146555		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	48	0.00	0	A	NM_152744		4285428	4285428	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	silent	43	10.42	5	SNP	0.002	C
SDK1	221935	genome.wustl.edu	37	7	4285428	4285428	+	Silent	SNP	A	A	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr7:4285428A>C	ENST00000404826.2	+	44	6511	c.6372A>C	c.(6370-6372)tcA>tcC	p.S2124S	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.S2104S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2124					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGATGCATCAGAATCTGAGG	0.582																																						dbGAP											0													86.0	72.0	76.0					7																	4285428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6372A>C	7.37:g.4285428A>C			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S2124	ENST00000404826.2	37	c.6372	CCDS34590.1	7																																																																																			SDK1	-	NULL	ENSG00000146555		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	37	0.00	0	A	NM_152744		4285428	4285428	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	silent	43	10.42	5	SNP	0.002	C
SEPT10	151011	genome.wustl.edu	37	2	110301779	110301779	+	3'UTR	SNP	A	A	C	rs200598502	byFrequency	TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr2:110301779A>C	ENST00000397712.2	-	0	1850				SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000356688.4_Missense_Mutation_p.F519V	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*107T>G	2.37:g.110301779A>C			B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.F519V	ENST00000397712.2	37	c.1555	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	A	8.972	0.973228	0.18736	.	.	ENSG00000186522	ENST00000356688	T	0.54279	0.58	5.37	1.66	0.24008	.	1.901300	0.02724	N	0.114273	T	0.40645	0.1125	.	.	.	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.31194	-0.9952	9	0.87932	D	0	.	2.1719	0.03852	0.5923:0.1635:0.0874:0.1567	.	519	B5ME97	.	V	519	ENSP00000349116:F519V	ENSP00000349116:F519V	F	-	1	0	SEPT10	109659068	0.087000	0.21565	0.491000	0.27477	0.028000	0.11728	0.685000	0.25378	0.099000	0.17552	0.482000	0.46254	TTT	SEPT10	-	NULL	ENSG00000186522		0.338	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	23	0.00	0	A	NM_144710		110301779	110301779	-1	no_errors	ENST00000356688	ensembl	human	putative	69_37n	missense	16	33.33	8	SNP	0.348	C
SKIDA1	387640	genome.wustl.edu	37	10	21805245	21805245	+	Missense_Mutation	SNP	C	C	G	rs373742077		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr10:21805245C>G	ENST00000449193.2	-	4	3759	c.1507G>C	c.(1507-1509)Ggc>Cgc	p.G503R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.G424R	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	422						nucleus (GO:0005634)											GGAAGTCTGCCGGCATCCTCG	0.637																																						dbGAP											0													42.0	47.0	45.0					10																	21805245		1935	4154	6089	-	-	-	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1507G>C	10.37:g.21805245C>G	ENSP00000410041:p.Gly503Arg		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G503R	ENST00000449193.2	37	c.1507	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522525	0.44866	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.73	3.82	0.43975	.	0.463268	0.23692	N	0.045513	T	0.24624	0.0597	N	0.08118	0	0.35424	D	0.793443	B	0.26744	0.158	B	0.19391	0.025	T	0.25117	-1.0141	9	0.62326	D	0.03	-0.1469	7.0586	0.25113	0.0:0.6746:0.1352:0.1902	.	503	E9PAX1	.	R	503;424	.	ENSP00000442432:G424R	G	-	1	0	C10orf140	21845251	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.038000	0.30254	1.382000	0.46385	0.650000	0.86243	GGC	SKIDA1	-	NULL	ENSG00000180592		0.637	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	29	0.00	0	C	NM_207371		21805245	21805245	-1	no_errors	ENST00000449193	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.996	G
SKIDA1	387640	genome.wustl.edu	37	10	21805245	21805245	+	Missense_Mutation	SNP	C	C	G	rs373742077		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr10:21805245C>G	ENST00000449193.2	-	4	3759	c.1507G>C	c.(1507-1509)Ggc>Cgc	p.G503R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.G424R	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	422						nucleus (GO:0005634)											GGAAGTCTGCCGGCATCCTCG	0.637																																						dbGAP											0													42.0	47.0	45.0					10																	21805245		1935	4154	6089	-	-	-	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1507G>C	10.37:g.21805245C>G	ENSP00000410041:p.Gly503Arg		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G503R	ENST00000449193.2	37	c.1507	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522525	0.44866	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.73	3.82	0.43975	.	0.463268	0.23692	N	0.045513	T	0.24624	0.0597	N	0.08118	0	0.35424	D	0.793443	B	0.26744	0.158	B	0.19391	0.025	T	0.25117	-1.0141	9	0.62326	D	0.03	-0.1469	7.0586	0.25113	0.0:0.6746:0.1352:0.1902	.	503	E9PAX1	.	R	503;424	.	ENSP00000442432:G424R	G	-	1	0	C10orf140	21845251	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.038000	0.30254	1.382000	0.46385	0.650000	0.86243	GGC	SKIDA1	-	NULL	ENSG00000180592		0.637	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	37	0.00	0	C	NM_207371		21805245	21805245	-1	no_errors	ENST00000449193	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.996	G
SLC16A2	6567	genome.wustl.edu	37	X	73744298	73744298	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chrX:73744298G>A	ENST00000587091.1	+	3	857	c.680G>A	c.(679-681)cGc>cAc	p.R227H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R301H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	227					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTTCAACGCCGCCTGGGTCTG	0.552																																						dbGAP											0													109.0	79.0	89.0					X																	73744298		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.680G>A	X.37:g.73744298G>A	ENSP00000465734:p.Arg227His		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R301H	ENST00000587091.1	37	c.902	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904395	0.72868	.	.	ENSG00000147100	ENST00000276033	T	0.49720	0.77	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.048924	0.85682	D	0.000000	T	0.58850	0.2151	M	0.65320	2	0.80722	D	1	P	0.52170	0.951	P	0.50440	0.641	T	0.61589	-0.7032	10	0.59425	D	0.04	.	18.939	0.92598	0.0:0.0:1.0:0.0	.	227	P36021	MOT8_HUMAN	H	301	ENSP00000276033:R301H	ENSP00000276033:R301H	R	+	2	0	SLC16A2	73661023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.420000	0.82092	0.597000	0.82753	CGC	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000147100		0.552	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	76	0.00	0	G			73744298	73744298	+1	no_errors	ENST00000276033	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152472809	152472809	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr6:152472809C>T	ENST00000367255.5	-	135	24930	c.24329G>A	c.(24328-24330)cGt>cAt	p.R8110H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7722H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8110H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8039H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R265H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2634H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8039H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R265H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8110					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACTCCTCACGCTGGCCAAT	0.423										HNSCC(10;0.0054)																												dbGAP											0													36.0	35.0	35.0					6																	152472809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24329G>A	6.37:g.152472809C>T	ENSP00000356224:p.Arg8110His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R8110H	ENST00000367255.5	37	c.24329	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.454421	0.96223	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000020	T	0.52403	0.1732	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.995;0.992;0.995;0.986	T	0.32161	-0.9917	10	0.36615	T	0.2	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	8110;8110;8039;8039;312	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8110;265;756;8039;8110;8039;7722;2634;272;267;1032;265	ENSP00000356224:R8110H;ENSP00000441052:R265H;ENSP00000356226:R756H;ENSP00000396024:R8039H;ENSP00000265368:R8110H;ENSP00000390975:R8039H;ENSP00000341887:R7722H;ENSP00000349276:R2634H;ENSP00000356220:R1032H;ENSP00000346701:R265H	ENSP00000265368:R8110H	R	-	2	0	SYNE1	152514502	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.625000	0.83145	2.836000	0.97738	0.655000	0.94253	CGT	SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	90	0.00	0	C	NM_182961		152472809	152472809	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	73	21.28	20	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152472809	152472809	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr6:152472809C>T	ENST00000367255.5	-	135	24930	c.24329G>A	c.(24328-24330)cGt>cAt	p.R8110H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7722H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8110H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8039H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R265H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2634H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8039H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R265H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8110					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACTCCTCACGCTGGCCAAT	0.423										HNSCC(10;0.0054)																												dbGAP											0													36.0	35.0	35.0					6																	152472809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24329G>A	6.37:g.152472809C>T	ENSP00000356224:p.Arg8110His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R8110H	ENST00000367255.5	37	c.24329	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.454421	0.96223	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000020	T	0.52403	0.1732	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.995;0.992;0.995;0.986	T	0.32161	-0.9917	10	0.36615	T	0.2	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	8110;8110;8039;8039;312	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8110;265;756;8039;8110;8039;7722;2634;272;267;1032;265	ENSP00000356224:R8110H;ENSP00000441052:R265H;ENSP00000356226:R756H;ENSP00000396024:R8039H;ENSP00000265368:R8110H;ENSP00000390975:R8039H;ENSP00000341887:R7722H;ENSP00000349276:R2634H;ENSP00000356220:R1032H;ENSP00000346701:R265H	ENSP00000265368:R8110H	R	-	2	0	SYNE1	152514502	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.625000	0.83145	2.836000	0.97738	0.655000	0.94253	CGT	SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	112	0.00	0	C	NM_182961		152472809	152472809	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	73	21.28	20	SNP	1.000	T
TAF1B	9014	genome.wustl.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																						dbGAP											0										139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	-	-	-	SO:0001589	frameshift_variant	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs		B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	pfam_TF_Rrn7	p.N66fs	ENST00000263663.5	37	c.187	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.333	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	25	0.00	0	A	NM_005680		9989571	9989571	+1	no_errors	ENST00000263663	ensembl	human	known	69_37n	frame_shift_del	30	11.76	4	DEL	0.991	-
TNFRSF21	27242	genome.wustl.edu	37	6	47221133	47221133	+	Silent	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr6:47221133G>A	ENST00000296861.2	-	4	1761	c.1368C>T	c.(1366-1368)caC>caT	p.H456H		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	456	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AGGCCCGCTCGTGGTCGGCTG	0.602																																						dbGAP											0													80.0	70.0	73.0					6																	47221133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1368C>T	6.37:g.47221133G>A			B2RDI9|Q0D2P5|Q96D86	Silent	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.H456	ENST00000296861.2	37	c.1368	CCDS4921.1	6																																																																																			TNFRSF21	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000146072		0.602	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	34	0.00	0	G	NM_014452		47221133	47221133	-1	no_errors	ENST00000296861	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.233	A
TNFRSF21	27242	genome.wustl.edu	37	6	47221133	47221133	+	Silent	SNP	G	G	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr6:47221133G>A	ENST00000296861.2	-	4	1761	c.1368C>T	c.(1366-1368)caC>caT	p.H456H		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	456	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AGGCCCGCTCGTGGTCGGCTG	0.602																																						dbGAP											0													80.0	70.0	73.0					6																	47221133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1368C>T	6.37:g.47221133G>A			B2RDI9|Q0D2P5|Q96D86	Silent	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.H456	ENST00000296861.2	37	c.1368	CCDS4921.1	6																																																																																			TNFRSF21	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000146072		0.602	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	38	0.00	0	G	NM_014452		47221133	47221133	-1	no_errors	ENST00000296861	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.233	A
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	144	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	34	52.78	38	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	77	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	34	52.78	38	SNP	1.000	T
TUBGCP2	10844	genome.wustl.edu	37	10	135106688	135106688	+	Silent	SNP	C	C	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr10:135106688C>T	ENST00000252936.3	-	6	918	c.879G>A	c.(877-879)gcG>gcA	p.A293A	RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Silent_p.A163A|TUBGCP2_ENST00000543663.1_Silent_p.A321A|TUBGCP2_ENST00000368563.2_Silent_p.A293A|TUBGCP2_ENST00000368562.1_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	293					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCATGGCGGCCGCCAGGGCGT	0.577																																						dbGAP											0													66.0	63.0	64.0					10																	135106688		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.879G>A	10.37:g.135106688C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.A321	ENST00000252936.3	37	c.963	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_Spc97_Spc98	ENSG00000130640		0.577	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	38	0.00	0	C			135106688	135106688	-1	no_errors	ENST00000543663	ensembl	human	known	69_37n	silent	22	15.38	4	SNP	0.273	T
SH2B1	25970	genome.wustl.edu	37	16	28855746	28855746	+	5'Flank	SNP	C	C	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr16:28855746C>T	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Missense_Mutation_p.V271I			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCACCAGGGACGGAGTACACC	0.602																																						dbGAP											0													62.0	59.0	60.0					16																	28855746		2197	4300	6497	-	-	-	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855746C>T	Exception_encountered		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.V271I	ENST00000322610.8	37	c.811	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.577802	0.00879	.	.	ENSG00000178952	ENST00000313511	T	0.75821	-0.97	5.93	2.25	0.28309	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.045297	0.85682	N	0.000000	T	0.22820	0.0551	N	0.00020	-2.78	0.21627	N	0.999614	B	0.02656	0.0	B	0.01281	0.0	T	0.50180	-0.8858	10	0.02654	T	1	-5.0638	8.7165	0.34414	0.0:0.2901:0.0:0.7099	.	268	P49411	EFTU_HUMAN	I	271	ENSP00000322439:V271I	ENSP00000322439:V271I	V	-	1	0	TUFM	28763247	0.996000	0.38824	0.548000	0.28192	0.101000	0.19017	2.550000	0.45811	0.132000	0.18615	-0.459000	0.05422	GTC	TUFM	-	superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.602	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1	112	0.00	0	C	NM_015503		28855746	28855746	-1	no_errors	ENST00000313511	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.732	T
SH2B1	25970	genome.wustl.edu	37	16	28855746	28855746	+	5'Flank	SNP	C	C	T			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr16:28855746C>T	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Missense_Mutation_p.V271I			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCACCAGGGACGGAGTACACC	0.602																																						dbGAP											0													62.0	59.0	60.0					16																	28855746		2197	4300	6497	-	-	-	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855746C>T	Exception_encountered		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.V271I	ENST00000322610.8	37	c.811	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.577802	0.00879	.	.	ENSG00000178952	ENST00000313511	T	0.75821	-0.97	5.93	2.25	0.28309	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.045297	0.85682	N	0.000000	T	0.22820	0.0551	N	0.00020	-2.78	0.21627	N	0.999614	B	0.02656	0.0	B	0.01281	0.0	T	0.50180	-0.8858	10	0.02654	T	1	-5.0638	8.7165	0.34414	0.0:0.2901:0.0:0.7099	.	268	P49411	EFTU_HUMAN	I	271	ENSP00000322439:V271I	ENSP00000322439:V271I	V	-	1	0	TUFM	28763247	0.996000	0.38824	0.548000	0.28192	0.101000	0.19017	2.550000	0.45811	0.132000	0.18615	-0.459000	0.05422	GTC	TUFM	-	superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.602	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1	101	0.00	0	C	NM_015503		28855746	28855746	-1	no_errors	ENST00000313511	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.732	T
WAC	51322	genome.wustl.edu	37	10	28905131	28905131	+	Missense_Mutation	SNP	A	A	G	rs200723559		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr10:28905131A>G	ENST00000354911.4	+	12	1747	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	WAC_ENST00000375664.4_Missense_Mutation_p.N484S|WAC_ENST00000347934.4_Missense_Mutation_p.N426S|WAC_ENST00000375646.1_Missense_Mutation_p.N377S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	529					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCTGGTCCCAATCATACTTCT	0.408																																						dbGAP											0													138.0	129.0	132.0					10																	28905131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1586A>G	10.37:g.28905131A>G	ENSP00000346986:p.Asn529Ser		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.N529S	ENST00000354911.4	37	c.1586	CCDS7159.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.58|14.58	2.579272|2.579272	0.46006|0.46006	.|.	.|.	ENSG00000095787|ENSG00000095787	ENST00000338396|ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48995|0.48995	0.1531|0.1531	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.61697	.|0.958;0.99;0.93	.|P;D;P	.|0.72982	.|0.763;0.979;0.584	T|T	0.32322|0.32322	-0.9911|-0.9911	6|10	0.87932|0.08837	D|T	0|0.75	-16.4682|-16.4682	15.925|15.925	0.79609|0.79609	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|484;426;529	.|Q9BTA9-2;Q9BTA9-5;Q9BTA9	.|.;.;WAC_HUMAN	V|S	92|484;377;426;529	.|ENSP00000364816:N484S;ENSP00000364797:N377S;ENSP00000311106:N426S;ENSP00000346986:N529S	ENSP00000341462:I92V|ENSP00000311106:N426S	I|N	+|+	1|2	0|0	WAC|WAC	28945137|28945137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.910000|8.910000	0.92685|0.92685	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ATC|AAT	WAC	-	NULL	ENSG00000095787		0.408	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	139	0.71	1	A	NM_100264		28905131	28905131	+1	no_errors	ENST00000354911	ensembl	human	known	69_37n	missense	129	21.34	35	SNP	1.000	G
WAC	51322	genome.wustl.edu	37	10	28905131	28905131	+	Missense_Mutation	SNP	A	A	G	rs200723559		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr10:28905131A>G	ENST00000354911.4	+	12	1747	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	WAC_ENST00000375664.4_Missense_Mutation_p.N484S|WAC_ENST00000347934.4_Missense_Mutation_p.N426S|WAC_ENST00000375646.1_Missense_Mutation_p.N377S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	529					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCTGGTCCCAATCATACTTCT	0.408																																						dbGAP											0													138.0	129.0	132.0					10																	28905131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1586A>G	10.37:g.28905131A>G	ENSP00000346986:p.Asn529Ser		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.N529S	ENST00000354911.4	37	c.1586	CCDS7159.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.58|14.58	2.579272|2.579272	0.46006|0.46006	.|.	.|.	ENSG00000095787|ENSG00000095787	ENST00000338396|ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48995|0.48995	0.1531|0.1531	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.61697	.|0.958;0.99;0.93	.|P;D;P	.|0.72982	.|0.763;0.979;0.584	T|T	0.32322|0.32322	-0.9911|-0.9911	6|10	0.87932|0.08837	D|T	0|0.75	-16.4682|-16.4682	15.925|15.925	0.79609|0.79609	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|484;426;529	.|Q9BTA9-2;Q9BTA9-5;Q9BTA9	.|.;.;WAC_HUMAN	V|S	92|484;377;426;529	.|ENSP00000364816:N484S;ENSP00000364797:N377S;ENSP00000311106:N426S;ENSP00000346986:N529S	ENSP00000341462:I92V|ENSP00000311106:N426S	I|N	+|+	1|2	0|0	WAC|WAC	28945137|28945137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.910000|8.910000	0.92685|0.92685	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ATC|AAT	WAC	-	NULL	ENSG00000095787		0.408	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	141	0.00	0	A	NM_100264		28905131	28905131	+1	no_errors	ENST00000354911	ensembl	human	known	69_37n	missense	129	21.34	35	SNP	1.000	G
VSTM4	196740	genome.wustl.edu	37	10	50285301	50285301	+	Missense_Mutation	SNP	G	G	C	rs146407836		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr10:50285301G>C	ENST00000332853.4	-	4	620	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACTGCCAGACGATGACCAGCA	0.527																																						dbGAP											0													139.0	109.0	119.0					10																	50285301		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.597C>G	10.37:g.50285301G>C	ENSP00000331062:p.Ile199Met		B4DNI6|Q96MX7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.I199M	ENST00000332853.4	37	c.597	CCDS31198.1	10	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428150	0.43122	.	.	ENSG00000165633	ENST00000332853	T	0.11063	2.81	5.4	2.35	0.29111	.	0.198812	0.43919	D	0.000518	T	0.18593	0.0446	L	0.54323	1.7	0.28599	N	0.909276	D	0.57571	0.98	P	0.56865	0.808	T	0.01930	-1.1245	10	0.49607	T	0.09	-32.0591	8.1764	0.31285	0.2923:0.0:0.7077:0.0	.	199	Q8IW00	VSTM4_HUMAN	M	199	ENSP00000331062:I199M	ENSP00000331062:I199M	I	-	3	3	VSTM4	49955307	0.112000	0.22096	0.419000	0.26584	0.863000	0.49368	0.211000	0.17474	0.833000	0.34828	-0.137000	0.14449	ATC	VSTM4	-	NULL	ENSG00000165633		0.527	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM4	HGNC	protein_coding	OTTHUMT00000047966.2	114	0.00	0	G	NM_144984		50285301	50285301	-1	no_errors	ENST00000332853	ensembl	human	known	69_37n	missense	36	19.57	9	SNP	0.152	C
VSTM4	196740	genome.wustl.edu	37	10	50285301	50285301	+	Missense_Mutation	SNP	G	G	C	rs146407836		TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr10:50285301G>C	ENST00000332853.4	-	4	620	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACTGCCAGACGATGACCAGCA	0.527																																						dbGAP											0													139.0	109.0	119.0					10																	50285301		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.597C>G	10.37:g.50285301G>C	ENSP00000331062:p.Ile199Met		B4DNI6|Q96MX7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.I199M	ENST00000332853.4	37	c.597	CCDS31198.1	10	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428150	0.43122	.	.	ENSG00000165633	ENST00000332853	T	0.11063	2.81	5.4	2.35	0.29111	.	0.198812	0.43919	D	0.000518	T	0.18593	0.0446	L	0.54323	1.7	0.28599	N	0.909276	D	0.57571	0.98	P	0.56865	0.808	T	0.01930	-1.1245	10	0.49607	T	0.09	-32.0591	8.1764	0.31285	0.2923:0.0:0.7077:0.0	.	199	Q8IW00	VSTM4_HUMAN	M	199	ENSP00000331062:I199M	ENSP00000331062:I199M	I	-	3	3	VSTM4	49955307	0.112000	0.22096	0.419000	0.26584	0.863000	0.49368	0.211000	0.17474	0.833000	0.34828	-0.137000	0.14449	ATC	VSTM4	-	NULL	ENSG00000165633		0.527	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM4	HGNC	protein_coding	OTTHUMT00000047966.2	43	0.00	0	G	NM_144984		50285301	50285301	-1	no_errors	ENST00000332853	ensembl	human	known	69_37n	missense	36	19.57	9	SNP	0.152	C
ZNF470	388566	genome.wustl.edu	37	19	57089741	57089741	+	Silent	SNP	T	T	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr19:57089741T>C	ENST00000330619.8	+	6	2630	c.1944T>C	c.(1942-1944)ccT>ccC	p.P648P	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.P648P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAGAGAAACCTTATGAGTGTA	0.403																																						dbGAP											0													81.0	78.0	79.0					19																	57089741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1944T>C	19.37:g.57089741T>C			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P648	ENST00000330619.8	37	c.1944	CCDS33122.1	19																																																																																			ZNF470	-	pfscan_Znf_C2H2	ENSG00000197016		0.403	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	171	0.00	0	T	NM_001001668		57089741	57089741	+1	no_errors	ENST00000330619	ensembl	human	known	69_37n	silent	64	29.67	27	SNP	0.960	C
ZNF470	388566	genome.wustl.edu	37	19	57089741	57089741	+	Silent	SNP	T	T	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr19:57089741T>C	ENST00000330619.8	+	6	2630	c.1944T>C	c.(1942-1944)ccT>ccC	p.P648P	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.P648P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAGAGAAACCTTATGAGTGTA	0.403																																						dbGAP											0													81.0	78.0	79.0					19																	57089741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1944T>C	19.37:g.57089741T>C			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P648	ENST00000330619.8	37	c.1944	CCDS33122.1	19																																																																																			ZNF470	-	pfscan_Znf_C2H2	ENSG00000197016		0.403	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	140	0.00	0	T	NM_001001668		57089741	57089741	+1	no_errors	ENST00000330619	ensembl	human	known	69_37n	silent	64	29.67	27	SNP	0.960	C
ZNF516	9658	genome.wustl.edu	37	18	74091656	74091656	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr18:74091656C>A	ENST00000443185.2	-	4	2731	c.2414G>T	c.(2413-2415)aGc>aTc	p.S805I	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AACCAAATTGCTTCTGATGCT	0.607																																						dbGAP											0													35.0	42.0	40.0					18																	74091656		2017	4164	6181	-	-	-	SO:0001583	missense	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2414G>T	18.37:g.74091656C>A	ENSP00000394757:p.Ser805Ile			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S805I	ENST00000443185.2	37	c.2414		18	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752242	0.15778	.	.	ENSG00000101493	ENST00000443185	T	0.10192	2.9	4.31	-2.24	0.06909	.	0.364790	0.27535	N	0.018922	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.41265	0.744	B	0.39068	0.289	T	0.20405	-1.0276	9	0.72032	D	0.01	-24.2833	7.1981	0.25864	0.0:0.237:0.1292:0.6338	.	805	Q92618	ZN516_HUMAN	I	805	ENSP00000394757:S805I	ENSP00000394757:S805I	S	-	2	0	ZNF516	72220644	1.000000	0.71417	0.002000	0.10522	0.117000	0.20001	1.390000	0.34464	-0.294000	0.08973	-0.258000	0.10820	AGC	ZNF516	-	NULL	ENSG00000101493		0.607	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		30	0.00	0	C	NM_014643		74091656	74091656	-1	no_errors	ENST00000443185	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.082	A
ZNF516	9658	genome.wustl.edu	37	18	74091656	74091656	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr18:74091656C>A	ENST00000443185.2	-	4	2731	c.2414G>T	c.(2413-2415)aGc>aTc	p.S805I	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AACCAAATTGCTTCTGATGCT	0.607																																						dbGAP											0													35.0	42.0	40.0					18																	74091656		2017	4164	6181	-	-	-	SO:0001583	missense	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2414G>T	18.37:g.74091656C>A	ENSP00000394757:p.Ser805Ile			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S805I	ENST00000443185.2	37	c.2414		18	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752242	0.15778	.	.	ENSG00000101493	ENST00000443185	T	0.10192	2.9	4.31	-2.24	0.06909	.	0.364790	0.27535	N	0.018922	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.41265	0.744	B	0.39068	0.289	T	0.20405	-1.0276	9	0.72032	D	0.01	-24.2833	7.1981	0.25864	0.0:0.237:0.1292:0.6338	.	805	Q92618	ZN516_HUMAN	I	805	ENSP00000394757:S805I	ENSP00000394757:S805I	S	-	2	0	ZNF516	72220644	1.000000	0.71417	0.002000	0.10522	0.117000	0.20001	1.390000	0.34464	-0.294000	0.08973	-0.258000	0.10820	AGC	ZNF516	-	NULL	ENSG00000101493		0.607	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		45	0.00	0	C	NM_014643		74091656	74091656	-1	no_errors	ENST00000443185	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.082	A
ZNF808	388558	genome.wustl.edu	37	19	53056786	53056786	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr19:53056786A>G	ENST00000359798.4	+	5	797	c.617A>G	c.(616-618)aAt>aGt	p.N206S		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CATATTTCTAATAACTATGGG	0.388																																						dbGAP											0													111.0	121.0	118.0					19																	53056786		2199	4296	6495	-	-	-	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.617A>G	19.37:g.53056786A>G	ENSP00000352846:p.Asn206Ser		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N137S	ENST00000359798.4	37	c.410	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	9.892	1.204519	0.22205	.	.	ENSG00000198482	ENST00000359798	T	0.05199	3.48	1.01	1.01	0.19927	.	.	.	.	.	T	0.06826	0.0174	L	0.49256	1.55	0.09310	N	0.999997	B	0.31859	0.343	B	0.35688	0.208	T	0.39502	-0.9611	9	0.21540	T	0.41	.	6.1686	0.20404	1.0:0.0:0.0:0.0	.	206	Q8N4W9	ZN808_HUMAN	S	206	ENSP00000352846:N206S	ENSP00000352846:N206S	N	+	2	0	ZNF808	57748598	0.003000	0.15002	0.009000	0.14445	0.036000	0.12997	0.000000	0.12993	0.701000	0.31803	0.254000	0.18369	AAT	ZNF808	-	NULL	ENSG00000198482		0.388	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	431	0.00	0	A	NM_001039886		53056786	53056786	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	missense	385	18.39	87	SNP	0.545	G
ZNF808	388558	genome.wustl.edu	37	19	53056786	53056786	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr19:53056786A>G	ENST00000359798.4	+	5	797	c.617A>G	c.(616-618)aAt>aGt	p.N206S		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CATATTTCTAATAACTATGGG	0.388																																						dbGAP											0													111.0	121.0	118.0					19																	53056786		2199	4296	6495	-	-	-	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.617A>G	19.37:g.53056786A>G	ENSP00000352846:p.Asn206Ser		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N137S	ENST00000359798.4	37	c.410	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	9.892	1.204519	0.22205	.	.	ENSG00000198482	ENST00000359798	T	0.05199	3.48	1.01	1.01	0.19927	.	.	.	.	.	T	0.06826	0.0174	L	0.49256	1.55	0.09310	N	0.999997	B	0.31859	0.343	B	0.35688	0.208	T	0.39502	-0.9611	9	0.21540	T	0.41	.	6.1686	0.20404	1.0:0.0:0.0:0.0	.	206	Q8N4W9	ZN808_HUMAN	S	206	ENSP00000352846:N206S	ENSP00000352846:N206S	N	+	2	0	ZNF808	57748598	0.003000	0.15002	0.009000	0.14445	0.036000	0.12997	0.000000	0.12993	0.701000	0.31803	0.254000	0.18369	AAT	ZNF808	-	NULL	ENSG00000198482		0.388	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	642	0.00	0	A	NM_001039886		53056786	53056786	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	missense	385	18.39	87	SNP	0.545	G
ZNF548	147694	genome.wustl.edu	37	19	57910907	57910907	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	bf8ee52e-4c02-4228-a357-0617a13a73bf	g.chr19:57910907G>C	ENST00000366197.5	+	3	1502	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	ZNF548_ENST00000336128.7_Missense_Mutation_p.E430Q|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACGGGAGAAAGGCCTTA	0.453																																						dbGAP											0													61.0	62.0	62.0					19																	57910907		2200	4300	6500	-	-	-	SO:0001583	missense	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1252G>C	19.37:g.57910907G>C	ENSP00000379482:p.Glu418Gln		Q96M05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E430Q	ENST00000366197.5	37	c.1288	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187287	0.57909	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.25912	1.77;1.77	2.2	2.2	0.27929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44623	0.1302	L	0.56396	1.775	0.30066	N	0.810461	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.38001	-0.9681	9	0.52906	T	0.07	.	12.1346	0.53964	0.0:0.0:1.0:0.0	.	430;418	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Q	430;418	ENSP00000337555:E430Q;ENSP00000379482:E418Q	ENSP00000337555:E430Q	E	+	1	0	ZNF548	62602719	0.991000	0.36638	0.919000	0.36401	0.898000	0.52572	3.230000	0.51286	1.563000	0.49615	0.563000	0.77884	GAA	ZNF548	-	pfscan_Znf_C2H2	ENSG00000188785		0.453	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	666	0.30	2	G	NM_152909		57910907	57910907	+1	no_errors	ENST00000336128	ensembl	human	known	69_37n	missense	336	20.75	88	SNP	1.000	C
ZNF548	147694	genome.wustl.edu	37	19	57910907	57910907	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0E0-01A-11W-A071-09	TCGA-BH-A0E0-11A-13W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f4a0943c-0124-4474-b7cf-2d87164056db	f587a6a2-4476-4aa2-9a3d-eb131df46c0d	g.chr19:57910907G>C	ENST00000366197.5	+	3	1502	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	ZNF548_ENST00000336128.7_Missense_Mutation_p.E430Q|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACGGGAGAAAGGCCTTA	0.453																																						dbGAP											0													61.0	62.0	62.0					19																	57910907		2200	4300	6500	-	-	-	SO:0001583	missense	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1252G>C	19.37:g.57910907G>C	ENSP00000379482:p.Glu418Gln		Q96M05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E430Q	ENST00000366197.5	37	c.1288	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187287	0.57909	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.25912	1.77;1.77	2.2	2.2	0.27929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44623	0.1302	L	0.56396	1.775	0.30066	N	0.810461	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.38001	-0.9681	9	0.52906	T	0.07	.	12.1346	0.53964	0.0:0.0:1.0:0.0	.	430;418	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Q	430;418	ENSP00000337555:E430Q;ENSP00000379482:E418Q	ENSP00000337555:E430Q	E	+	1	0	ZNF548	62602719	0.991000	0.36638	0.919000	0.36401	0.898000	0.52572	3.230000	0.51286	1.563000	0.49615	0.563000	0.77884	GAA	ZNF548	-	pfscan_Znf_C2H2	ENSG00000188785		0.453	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	487	0.20	1	G	NM_152909		57910907	57910907	+1	no_errors	ENST00000336128	ensembl	human	known	69_37n	missense	336	20.75	88	SNP	1.000	C
