#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTPRG	5793	broad.mit.edu	37	3	62268456	62268456	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:62268456G>C	ENST00000474889.1	+	28	4344	c.3967G>C	c.(3967-3969)Gat>Cat	p.D1323H	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1323	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCCTAACCCAGATGCCCCCAT	0.428																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3967-3969)Gat>Cat		protein tyrosine phosphatase, receptor type, G							202.0	185.0	191.0					3																	62268456		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62268456G>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3967G>C	3.37:g.62268456G>C	ENSP00000418112:p.Asp1323His					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	p.D1323H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	28	4344	+			1323			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3967G>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386115	0.82902	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11821	2.74;2.74	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.047554	0.85682	D	0.000000	T	0.42108	0.1188	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	0.966;0.997;1.0	P;D;D	0.71870	0.819;0.975;0.964	T	0.31447	-0.9943	10	0.72032	D	0.01	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	569;1294;1323	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	H	1323;1294	ENSP00000418112:D1323H;ENSP00000295874:D1294H	ENSP00000295874:D1294H	D	+	1	0	PTPRG	62243496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.799000	0.96334	0.650000	0.86243	GAT		0.428	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		17	146	0	0	0	1	0	17	146				
TP53	7157	broad.mit.edu	37	17	7577115	7577115	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:7577115A>C	ENST00000269305.4	-	8	1012	c.823T>G	c.(823-825)Tgt>Ggt	p.C275G	TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GGACAGGCACAAACACGCACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		36	Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Unknown(2)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	bone(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|oesophagus(2)|peritoneum(1)|urinary_tract(1)|skin(1)|lung(1)|prostate(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						c.(823-825)Tgt>Ggt	Other conserved DNA damage response genes	tumor protein p53							70.0	60.0	64.0					17																	7577115		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577115A>C	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.823T>G	17.37:g.7577115A>C	ENSP00000269305:p.Cys275Gly	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)				TP53_ENST00000269305.4_Missense_Mutation_p.C275G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G	p.C275G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.823T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294377	0.81025	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.996;1.0;0.996;0.996	D	0.96415	0.9307	10	0.87932	D	0	-17.2181	12.5624	0.56288	1.0:0.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	275;275;275;275;275;264;143	ENSP00000352610:C275G;ENSP00000269305:C275G;ENSP00000398846:C275G;ENSP00000391127:C275G;ENSP00000391478:C275G;ENSP00000425104:C143G	ENSP00000269305:C275G	C	-	1	0	TP53	7517840	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	14	0	0	0	1	0	19	14				
CARS2	79587	broad.mit.edu	37	13	111296777	111296777	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr13:111296777A>G	ENST00000257347.4	-	13	1434	c.1371T>C	c.(1369-1371)ttT>ttC	p.F457F	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	457					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AAAACTGTTCAAAGTAAGAGA	0.408																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(1369-1371)ttT>ttC		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						86.0	85.0	85.0					13																	111296777		2203	4300	6503	SO:0001819	synonymous_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111296777A>G	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1371T>C	13.37:g.111296777A>G						CARS2_ENST00000535398.1_5'UTR	p.F457F	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		13	1434	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		457					Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	c.1371T>C	CCDS9514.1																																																																																				0.408	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		22	41	0	0	0	1	0	22	41				
HACE1	57531	broad.mit.edu	37	6	105300205	105300205	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:105300205C>T	ENST00000262903.4	-	2	394	c.118G>A	c.(118-120)Gct>Act	p.A40T	HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	40					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTTGATCAGCCATAACCATT	0.393																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(118-120)Gct>Act		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							82.0	78.0	79.0					6																	105300205		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105300205C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.118G>A	6.37:g.105300205C>T	ENSP00000262903:p.Ala40Thr					HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	2	394	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	40					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.118G>A	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917704	0.92249	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.71461	-0.57;-0.57;-0.09;1.57	5.05	5.05	0.67936	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.79805	2.47	0.80722	D	1	D;P	0.69078	0.997;0.872	D;P	0.77004	0.989;0.478	D	0.84873	0.0826	10	0.72032	D	0.01	.	17.535	0.87827	0.0:1.0:0.0:0.0	.	40;40	E9PGP0;Q8IYU2	.;HACE1_HUMAN	T	40;40;40;6	ENSP00000262903:A40T;ENSP00000358121:A40T;ENSP00000429765:A40T;ENSP00000427901:A6T	ENSP00000262903:A40T	A	-	1	0	HACE1	105406898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.739000	0.74827	2.491000	0.84063	0.585000	0.79938	GCT		0.393	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		9	21	0	0	0	1	0	9	21				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			0							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	10	0	0	0	1	0	4	10				
OR4D6	219983	broad.mit.edu	37	11	59225062	59225062	+	Missense_Mutation	SNP	G	G	T	rs202119522		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:59225062G>T	ENST00000300127.2	+	1	652	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCCTGCTCTGGTTCCTCCTG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20331	0.0		0.001	False		,,,				2504	0.0					ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(628-630)tGg>tTg		olfactory receptor, family 4, subfamily D, member 6		G	LEU/TRP	1,4401	2.1+/-5.4	0,1,2200	162.0	136.0	145.0		629	3.1	0.4	11		145	1,8589	1.2+/-3.3	0,1,4294	yes	missense	OR4D6	NM_001004708.1	61	0,2,6494	TT,TG,GG		0.0116,0.0227,0.0154	benign	210/315	59225062	2,12990	2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225062G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.629G>T	11.37:g.59225062G>T	ENSP00000300127:p.Trp210Leu						p.W210L	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	652	+			210					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.629G>T	CCDS31562.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.047	-1.261184	0.01445	2.27E-4	1.16E-4	ENSG00000166884	ENST00000300127	T	0.35421	1.31	6.01	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.132433	0.35436	N	0.003203	T	0.27832	0.0685	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.22152	0.038	T	0.17684	-1.0361	10	0.46703	T	0.11	-4.8046	13.5361	0.61648	0.0:0.325:0.5649:0.1101	.	210	Q8NGJ1	OR4D6_HUMAN	L	210	ENSP00000300127:W210L	ENSP00000300127:W210L	W	+	2	0	OR4D6	58981638	0.000000	0.05858	0.371000	0.25978	0.095000	0.18619	0.108000	0.15396	0.132000	0.18615	-0.795000	0.03280	TGG		0.552	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		18	55	1	0	6.94344e-10	1	7.56339e-10	18	55				
KRT15	3866	broad.mit.edu	37	17	39674590	39674590	+	Missense_Mutation	SNP	G	G	A	rs142682445	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39674590G>A	ENST00000254043.3	-	1	4075	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W|KRT15_ENST00000393974.3_Silent_p.S26S	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	164	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.527																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(490-492)Cgg>Tgg		keratin 15		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	127.0	130.0		490	3.2	0.8	17	dbSNP_134	130	10,8590	7.7+/-29.5	0,10,4290	yes	missense	KRT15	NM_002275.3	101	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	probably-damaging	164/457	39674590	11,12995	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39674590G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.490C>T	17.37:g.39674590G>A	ENSP00000254043:p.Arg164Trp					KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393974.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W	p.R164W	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			1	4075	-		Breast(137;0.000286)	164			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.490C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297605	0.60086	2.27E-4	0.001163	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.93019	-3.15;-3.15	5.2	3.17	0.36434	Filament (1);	0.000000	0.44902	D	0.000415	D	0.97495	0.9180	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96214	0.9155	10	0.87932	D	0	.	7.8594	0.29501	0.0736:0.0:0.6395:0.2868	.	164	P19012	K1C15_HUMAN	W	164	ENSP00000254043:R164W;ENSP00000377546:R164W	ENSP00000254043:R164W	R	-	1	2	KRT15	36928116	0.066000	0.20996	0.831000	0.32960	0.757000	0.42996	2.389000	0.44407	0.733000	0.32492	0.561000	0.74099	CGG		0.527	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		20	42	0	0	0	1	0	20	42				
CDC27	996	broad.mit.edu	37	17	45234392	45234392	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:45234392A>G	ENST00000066544.3	-	7	822	c.729T>C	c.(727-729)gaT>gaC	p.D243D	CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D|CDC27_ENST00000531206.1_Silent_p.D243D|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGGGACAGTATCAGGTGAAA	0.363																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(727-729)gaT>gaC		cell division cycle 27							46.0	50.0	49.0					17																	45234392		2194	4294	6488	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234392A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.729T>C	17.37:g.45234392A>G						CDC27_ENST00000531206.1_Silent_p.D243D|CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D	p.D243D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	822	-			243					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.729T>C	CCDS11509.1																																																																																				0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	56	0	0	0	1	0	3	56				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			6	50	0	0	0	1	0	6	50				
PTPRB	5787	broad.mit.edu	37	12	70956725	70956725	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:70956725C>G	ENST00000261266.5	-	14	3442	c.3413G>C	c.(3412-3414)aGc>aCc	p.S1138T	PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000334414.6_Missense_Mutation_p.S1356T|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1138	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAAGAGAAGCTCTGGACTAG	0.473																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4066-4068)aGc>aCc		protein tyrosine phosphatase, receptor type, B							114.0	107.0	109.0					12																	70956725		1888	4119	6007	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70956725C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3413G>C	12.37:g.70956725C>G	ENSP00000261266:p.Ser1138Thr					PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1138T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T	p.S1356T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4111	-	Renal(347;0.236)		1138			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4067G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661296	0.29515	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.89	1.18	0.20946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.306644	0.41194	N	0.000938	T	0.37489	0.1005	L	0.43152	1.355	0.23016	N	0.998425	B;B;B;B;B;B;B	0.15719	0.001;0.001;0.001;0.001;0.001;0.001;0.014	B;B;B;B;B;B;B	0.15484	0.008;0.008;0.013;0.008;0.005;0.008;0.012	T	0.15521	-1.0434	10	0.30854	T	0.27	.	5.9703	0.19349	0.0:0.2464:0.5909:0.1627	.	1048;1048;1235;1355;1356;1138;1268	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	T	1356;1048;1268;1048;1048;1138;1355;1235	ENSP00000334928:S1356T;ENSP00000393028:S1048T;ENSP00000448058:S1268T;ENSP00000438927:S1048T;ENSP00000447302:S1048T;ENSP00000261266:S1138T;ENSP00000448349:S1355T;ENSP00000446982:S1235T	ENSP00000261266:S1138T	S	-	2	0	PTPRB	69242992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.349000	0.33998	0.800000	0.34041	0.591000	0.81541	AGC		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			27	34	0	0	0	1	0	27	34				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	38	0	0	0	1	0	5	38				
TTN	7273	broad.mit.edu	37	2	179474646	179474646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:179474646C>T	ENST00000591111.1	-	222	46805	c.46581G>A	c.(46579-46581)tgG>tgA	p.W15527*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W17168*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15527	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGGCTTCCATGTAATAG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(51502-51504)tgG>tgA		titin							223.0	209.0	214.0					2																	179474646		1901	4126	6027	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474646C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46581G>A	2.37:g.179474646C>T	ENSP00000465570:p.Trp15527*					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W15527*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.W17168*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		272	51728	-			15527			Fibronectin type-III 24.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.51504G>A		.	.	.	.	.	.	.	.	.	.	C	60	40.709609	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	.	.	.	X	14600;8103;8295;8228;8103	.	ENSP00000340554:W8295X	W	-	3	0	TTN	179182891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	TGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	129	0	0	0	1	0	47	129				
CCDC9	26093	broad.mit.edu	37	19	47774919	47774919	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:47774919C>T	ENST00000221922.6	+	12	1802	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	527							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGCCTGGCCTTTTGAGAGT	0.652																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(1579-1581)cCt>cTt		coiled-coil domain containing 9							32.0	38.0	36.0					19																	47774919		2200	4294	6494	SO:0001583	missense	26093							g.chr19:47774919C>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1580C>T	19.37:g.47774919C>T	ENSP00000221922:p.Pro527Leu						p.P527L	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1802	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	527						Missense_Mutation	SNP	ENST00000221922.6	37	c.1580C>T	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	17.39	3.378606	0.61735	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.32023	1.47	3.46	3.46	0.39613	.	0.117272	0.37012	N	0.002282	T	0.49525	0.1562	L	0.57536	1.79	0.49299	D	0.999772	D	0.89917	1.0	D	0.87578	0.998	T	0.53272	-0.8462	10	0.87932	D	0	-10.0866	12.847	0.57835	0.0:1.0:0.0:0.0	.	527	Q9Y3X0	CCDC9_HUMAN	L	527;509	ENSP00000221922:P527L	ENSP00000221922:P527L	P	+	2	0	CCDC9	52466759	0.996000	0.38824	0.984000	0.44739	0.372000	0.29890	2.541000	0.45735	2.235000	0.73313	0.297000	0.19635	CCT		0.652	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		12	27	0	0	0	1	0	12	27				
CEP68	23177	broad.mit.edu	37	2	65298755	65298755	+	Silent	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298755C>G	ENST00000377990.2	+	3	728	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CEP68_ENST00000260569.4_Silent_p.L175L|CEP68_ENST00000546106.1_Silent_p.L175L|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	175					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCAGGTCTCTCTTGCCTGT	0.577																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(523-525)ctC>ctG		centrosomal protein 68kDa							89.0	75.0	80.0					2																	65298755		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65298755C>G	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.525C>G	2.37:g.65298755C>G						CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.L175L|CEP68_ENST00000546106.1_Silent_p.L175L	p.L175L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	728	+			175					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.525C>G	CCDS1880.2																																																																																				0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		13	35	0	0	0	1	0	13	35				
LCT	3938	broad.mit.edu	37	2	136558246	136558246	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:136558246G>T	ENST00000264162.2	-	12	4807	c.4797C>A	c.(4795-4797)agC>agA	p.S1599R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1599	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCCAGTCACTGCTGATGGTGA	0.522																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4795-4797)agC>agA		lactase							114.0	107.0	110.0					2																	136558246		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136558246G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4797C>A	2.37:g.136558246G>T	ENSP00000264162:p.Ser1599Arg						p.S1599R	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	12	4807	-			1599			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.4797C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245322	0.59103	.	.	ENSG00000115850	ENST00000264162	T	0.33654	1.4	5.73	2.99	0.34606	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.357745	0.39210	N	0.001426	T	0.44973	0.1319	M	0.79258	2.445	0.33360	D	0.57219	B	0.32968	0.392	B	0.41646	0.362	T	0.57659	-0.7773	10	0.59425	D	0.04	-6.3014	9.885	0.41255	0.2719:0.0:0.7281:0.0	.	1599	P09848	LPH_HUMAN	R	1599	ENSP00000264162:S1599R	ENSP00000264162:S1599R	S	-	3	2	LCT	136274716	1.000000	0.71417	0.491000	0.27477	0.992000	0.81027	3.475000	0.53136	0.363000	0.24346	0.563000	0.77884	AGC		0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		12	39	1	0	2.27111e-07	1	2.38858e-07	12	39				
ZNF101	94039	broad.mit.edu	37	19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A	rs558462983		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	175					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(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19760	0.0		0.001	False		,,,				2504	0.0					ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(523-525)Ggg>Agg		zinc finger protein 101							89.0	94.0	92.0					19																	19790321		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790321G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.523G>A	19.37:g.19790321G>A	ENSP00000468049:p.Gly175Arg					ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R|ZNF101_ENST00000444249.2_3'UTR	p.G175R			Q8IZC7	ZN101_HUMAN			4	633	+			175					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.523G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552295	0.65311	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07444	3.19;3.19	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27594	0.0678	M	0.90198	3.095	0.34091	D	0.660734	D	0.76494	0.999	D	0.67900	0.954	T	0.38457	-0.9660	9	0.72032	D	0.01	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	175	Q8IZC7	ZN101_HUMAN	R	175;175;55	ENSP00000319716:G175R;ENSP00000400952:G55R	ENSP00000319716:G175R	G	+	1	0	ZNF101	19651321	1.000000	0.71417	0.543000	0.28128	0.550000	0.35303	2.860000	0.48372	0.308000	0.22923	0.313000	0.20887	GGG		0.438	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		45	74	0	0	0	1	0	45	74				
ATRX	546	broad.mit.edu	37	X	76920261	76920261	+	Silent	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76920261G>T	ENST00000373344.5	-	11	4030	c.3816C>A	c.(3814-3816)gcC>gcA	p.A1272A	ATRX_ENST00000395603.3_Silent_p.A1234A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1272	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCATCTTCTTGGCAATTCTTG	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3814-3816)gcC>gcA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						72.0	64.0	67.0					X																	76920261		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920261G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3816C>A	X.37:g.76920261G>T						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.A1234A	p.A1272A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4030	-			1272					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.3816C>A	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	35	1	0	4.3838e-07	1	4.5324e-07	14	35				
OR5W2	390148	broad.mit.edu	37	11	55681814	55681814	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:55681814A>G	ENST00000344514.1	-	1	244	c.245T>C	c.(244-246)cTg>cCg	p.L82P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGATCTACCAGCATCTTGGG	0.433																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(244-246)cTg>cCg		olfactory receptor, family 5, subfamily W, member 2							136.0	130.0	132.0					11																	55681814		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681814A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.245T>C	11.37:g.55681814A>G	ENSP00000342448:p.Leu82Pro						p.L82P	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	244	-			82						Missense_Mutation	SNP	ENST00000344514.1	37	c.245T>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814224	0.32053	.	.	ENSG00000187612	ENST00000344514	T	0.00441	7.41	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30949	N	0.008547	T	0.00998	0.0033	H	0.96239	3.79	0.58432	D	0.999996	P	0.36438	0.553	B	0.40134	0.32	T	0.20806	-1.0264	10	0.87932	D	0	.	12.6788	0.56910	1.0:0.0:0.0:0.0	.	82	Q8NH69	OR5W2_HUMAN	P	82	ENSP00000342448:L82P	ENSP00000342448:L82P	L	-	2	0	OR5W2	55438390	0.314000	0.24563	0.142000	0.22268	0.284000	0.27059	4.996000	0.63914	1.874000	0.54306	0.448000	0.29417	CTG		0.433	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		25	45	0	0	0	1	0	25	45				
ATRX	546	broad.mit.edu	37	X	76940430	76940430	+	Splice_Site	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76940430C>T	ENST00000373344.5	-	8	877		c.e8+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATATTACCTACCTACATTGTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e8+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						150.0	127.0	135.0					X																	76940430		2203	4291	6494	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940430C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.662+1G>A	X.37:g.76940430C>T						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	877	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580195	0.86645	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4755	0.90791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76827086	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.415000	0.80131	2.306000	0.77630	0.422000	0.28245	.		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	21	84	0	0	0	1	0	21	84				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	29	0	0	0	1	0	16	29				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000543101.1_5'Flank|ERCC8_ENST00000265038.5_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	11	0	0	0	1	0	3	11				
DSE	29940	broad.mit.edu	37	6	116720523	116720523	+	Missense_Mutation	SNP	A	A	G	rs371802983	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:116720523A>G	ENST00000331677.3	+	3	554	c.110A>G	c.(109-111)aAt>aGt	p.N37S	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	37					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCCTTCACCAATGCCAACTAC	0.552																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(109-111)aAt>aGt		dermatan sulfate epimerase							86.0	73.0	77.0					6																	116720523		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720523A>G	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.110A>G	6.37:g.116720523A>G	ENSP00000332151:p.Asn37Ser					DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S	p.N37S			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	554	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	37					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.110A>G	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.444946	0.43429	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.46	5.46	0.80206	.	0.111512	0.64402	D	0.000005	T	0.10594	0.0259	L	0.36672	1.1	0.46458	D	0.999055	P;P	0.37500	0.597;0.597	B;B	0.37888	0.26;0.116	T	0.06991	-1.0796	10	0.32370	T	0.25	-25.5339	15.7119	0.77635	1.0:0.0:0.0:0.0	.	56;37	B7Z765;Q9UL01	.;DSE_HUMAN	S	37;37;56;37;37	ENSP00000397597:N37S;ENSP00000404049:N37S;ENSP00000441152:N56S;ENSP00000332151:N37S;ENSP00000352567:N37S	ENSP00000332151:N37S	N	+	2	0	DSE	116827216	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	7.053000	0.76641	2.291000	0.77112	0.533000	0.62120	AAT		0.552	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		8	52	0	0	0	1	0	8	52				
TP53TG5	27296	broad.mit.edu	37	20	44004019	44004019	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr20:44004019G>A	ENST00000372726.3	-	4	584	c.428C>T	c.(427-429)aCg>aTg	p.T143M	SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	143					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CGCCAATGACGTTTTCTCCTT	0.502																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(427-429)aCg>aTg		TP53 target 5							244.0	240.0	241.0					20																	44004019		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44004019G>A	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.428C>T	20.37:g.44004019G>A	ENSP00000361811:p.Thr143Met					SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M	p.T143M	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	584	-			143						Missense_Mutation	SNP	ENST00000372726.3	37	c.428C>T	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	g	10.13	1.266607	0.23136	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.14391	2.51;2.51	5.01	-10.0	0.00425	.	2.262800	0.01441	N	0.015067	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.25363	-1.0134	10	0.44086	T	0.13	1.2864	0.7469	0.00984	0.3669:0.1084:0.1933:0.3314	.	143	Q9Y2B4	T53G5_HUMAN	M	143;127	ENSP00000361811:T143M;ENSP00000438374:T127M	ENSP00000361811:T143M	T	-	2	0	TP53TG5	43437433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-1.808000	0.01234	-2.046000	0.00415	ACG		0.502	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		52	175	0	0	0	1	0	52	175				
CLCN5	1184	broad.mit.edu	37	X	49851229	49851229	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:49851229C>T	ENST00000307367.2	+	8	1340	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I|CLCN5_ENST00000376088.3_Missense_Mutation_p.T420I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	350					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CGAAAGACCACCCAGTTGGGC	0.512																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1258-1260)aCc>aTc		chloride channel, voltage-sensitive 5							109.0	87.0	94.0					X																	49851229		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851229C>T	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1049C>T	X.37:g.49851229C>T	ENSP00000304257:p.Thr350Ile					CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000307367.2_Missense_Mutation_p.T350I|CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I	p.T420I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			11	1900	+	Ovarian(276;0.236)		350					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1259C>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326124	0.81580	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.7	5.7	0.88788	Chloride channel, core (2);	0.091017	0.85682	D	0.000000	D	0.91287	0.7253	L	0.39020	1.185	0.80722	D	1	P;P	0.44281	0.831;0.705	P;B	0.49421	0.61;0.359	D	0.90052	0.4150	10	0.31617	T	0.26	0.0253	17.5228	0.87792	0.0:1.0:0.0:0.0	.	350;420	P51795;P51795-2	CLCN5_HUMAN;.	I	420;252;420;350;350	ENSP00000365256:T420I;ENSP00000365259:T420I;ENSP00000365276:T350I;ENSP00000304257:T350I	ENSP00000304257:T350I	T	+	2	0	CLCN5	49737969	1.000000	0.71417	0.921000	0.36526	0.826000	0.46750	7.692000	0.84203	2.408000	0.81797	0.436000	0.28706	ACC		0.512	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			19	34	0	0	0	1	0	19	34				
PPP1R26	9858	broad.mit.edu	37	9	138378948	138378948	+	Silent	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr9:138378948C>T	ENST00000356818.2	+	4	3141	c.2592C>T	c.(2590-2592)acC>acT	p.T864T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.T864T|PPP1R26_ENST00000604351.1_Silent_p.T864T|PPP1R26_ENST00000401470.3_Silent_p.T864T|PPP1R26_ENST00000605660.1_Silent_p.T864T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	864					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGGGCCCCACCGCTCTTGGGA	0.632																																						ENST00000356818.2																			0											c.(2590-2592)acC>acT		protein phosphatase 1, regulatory subunit 26							38.0	47.0	44.0					9																	138378948		2184	4275	6459	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138378948C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2592C>T	9.37:g.138378948C>T						PPP1R26_ENST00000401470.3_Silent_p.T864T|PPP1R26_ENST00000605660.1_Silent_p.T864T|PPP1R26_ENST00000605286.1_Silent_p.T864T|PPP1R26_ENST00000604351.1_Silent_p.T864T|PPP1R26_ENST00000602993.1_Intron	p.T864T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3141	+			864					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2592C>T	CCDS6988.1																																																																																				0.632	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		8	93	0	0	0	1	0	8	93				
SLC22A5	6584	broad.mit.edu	37	5	131714135	131714135	+	Silent	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:131714135G>A	ENST00000245407.3	+	2	680	c.459G>A	c.(457-459)gtG>gtA	p.V153V	SLC22A5_ENST00000435065.2_Silent_p.V177V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	153					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TCGTGGGTGTGCTGTTGGGCT	0.547																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(457-459)gtG>gtA		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						275.0	267.0	270.0					5																	131714135		2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714135G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.459G>A	5.37:g.131714135G>A						SLC22A5_ENST00000435065.2_Silent_p.V177V	p.V153V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	680	+		all_cancers(142;0.0751)|Breast(839;0.198)	153					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.459G>A	CCDS4154.1																																																																																				0.547	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		95	169	0	0	0	1	0	95	169				
ADCY10	55811	broad.mit.edu	37	1	167802329	167802329	+	Silent	SNP	T	T	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:167802329T>G	ENST00000367851.4	-	25	3673	c.3489A>C	c.(3487-3489)cgA>cgC	p.R1163R	ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000367848.1_Silent_p.R1071R	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGAAAGATTCGGTTGAGGA	0.473																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3211-3213)cgA>cgC		adenylate cyclase 10 (soluble)							275.0	282.0	280.0					1																	167802329		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802329T>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3489A>C	1.37:g.167802329T>G						ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.R1163R	p.R1071R			Q96PN6	ADCYA_HUMAN			25	3710	-			1163					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.3213A>C	CCDS1265.1																																																																																				0.473	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		117	187	0	0	0	1	0	117	187				
MYH8	4626	broad.mit.edu	37	17	10300287	10300287	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:10300287G>A	ENST00000403437.2	-	31	4289	c.4195C>T	c.(4195-4197)Cgc>Tgc	p.R1399C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1399					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTGCAGGCGCTGGGCCAAC	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4195-4197)Cgc>Tgc		myosin, heavy chain 8, skeletal muscle, perinatal							56.0	54.0	55.0					17																	10300287		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300287G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4195C>T	17.37:g.10300287G>A	ENSP00000384330:p.Arg1399Cys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1399C	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4289	-			1399					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4195C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833008	0.91036	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80214	-1.35	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.42548	U	0.000682	D	0.93236	0.7845	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95070	0.8203	10	0.87932	D	0	.	18.8185	0.92086	0.0:0.0:1.0:0.0	.	1399	P13535	MYH8_HUMAN	C	1399	ENSP00000384330:R1399C	ENSP00000252173:R1399C	R	-	1	0	MYH8	10241012	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.276000	0.95745	2.673000	0.90976	0.650000	0.86243	CGC		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		17	32	0	0	0	1	0	17	32				
REL	5966	broad.mit.edu	37	2	61149557	61149557	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:61149557A>T	ENST00000295025.8	+	11	2067	c.1747A>T	c.(1747-1749)Agt>Tgt	p.S583C	REL_ENST00000394479.3_Missense_Mutation_p.S551C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	583					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACCATCAAACAGTACTAATCC	0.373			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1747-1749)Agt>Tgt		v-rel avian reticuloendotheliosis viral oncogene homolog							87.0	81.0	83.0					2																	61149557		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149557A>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1747A>T	2.37:g.61149557A>T	ENSP00000295025:p.Ser583Cys					REL_ENST00000394479.3_Missense_Mutation_p.S551C	p.S583C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	2067	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	583					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1747A>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466275	0.26335	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.46451	0.87;0.87	5.74	-6.37	0.01963	.	1.087620	0.07186	N	0.854841	T	0.22166	0.0534	N	0.19112	0.55	0.09310	N	1	P;D	0.55800	0.953;0.973	B;B	0.43754	0.315;0.43	T	0.20672	-1.0268	10	0.54805	T	0.06	-14.0587	2.0655	0.03601	0.5528:0.1052:0.1306:0.2114	.	551;583	Q17RU2;Q04864	.;REL_HUMAN	C	583;551	ENSP00000295025:S583C;ENSP00000377989:S551C	ENSP00000295025:S583C	S	+	1	0	REL	61003061	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	0.147000	0.16202	-0.857000	0.04115	0.528000	0.53228	AGT		0.373	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		15	44	0	0	0	1	0	15	44				
AGL	178	broad.mit.edu	37	1	100356833	100356833	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:100356833G>A	ENST00000294724.4	+	22	3348	c.2870G>A	c.(2869-2871)tGt>tAt	p.C957Y	AGL_ENST00000370165.3_Missense_Mutation_p.C957Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y|AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	957					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATCCTTTTTGTAATAATTTG	0.368																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2869-2871)tGt>tAt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							105.0	107.0	106.0					1																	100356833		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100356833G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2870G>A	1.37:g.100356833G>A	ENSP00000294724:p.Cys957Tyr					AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000370165.3_Missense_Mutation_p.C957Y|AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y	p.C957Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	22	3348	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	957					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2870G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594114	0.86953	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76626	-0.2890	10	0.87932	D	0	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	940;941;957	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Y	957;957;957;957;941;941;940	ENSP00000355106:C957Y;ENSP00000359184:C957Y;ENSP00000359182:C957Y;ENSP00000294724:C957Y;ENSP00000354971:C941Y;ENSP00000359180:C941Y;ENSP00000354635:C940Y	ENSP00000294724:C957Y	C	+	2	0	AGL	100129421	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.881000	0.92415	2.703000	0.92315	0.579000	0.79373	TGT		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		22	37	0	0	0	1	0	22	37				
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)Cgc>Tgc		keratin 13							62.0	62.0	62.0					17																	39659673		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659673G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	17.37:g.39659673G>A	ENSP00000246635:p.Arg201Cys					KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	p.R201C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			3	647	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.601C>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		27	55	0	0	0	1	0	27	55				
COPB1	1315	broad.mit.edu	37	11	14515962	14515962	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:14515962T>C	ENST00000249923.3	-	3	415	c.115A>G	c.(115-117)Act>Gct	p.T39A	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.T39A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	39					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAAGCTTCAGTCTTTGACTTT	0.289																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(115-117)Act>Gct		coatomer protein complex, subunit beta 1							70.0	67.0	68.0					11																	14515962		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14515962T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.115A>G	11.37:g.14515962T>C	ENSP00000249923:p.Thr39Ala					PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.T39A|PSMA1_ENST00000419365.2_3'UTR	p.T39A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			3	415	-			39					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.115A>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113965	0.56398	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.07279	0.0184	N	0.03268	-0.37	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.37454	-0.9705	10	0.21014	T	0.42	-10.6632	15.759	0.78063	0.0:0.0:0.0:1.0	.	39	P53618	COPB_HUMAN	A	39	ENSP00000249923:T39A;ENSP00000397873:T39A;ENSP00000436383:T39A;ENSP00000431530:T39A;ENSP00000436401:T39A	ENSP00000249923:T39A	T	-	1	0	COPB1	14472538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.293000	0.72731	2.121000	0.65114	0.533000	0.62120	ACT		0.289	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		12	12	0	0	0	1	0	12	12				
CTBP2	1488	broad.mit.edu	37	10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	rs78849795		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453																																						ENST00000337195.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(19-21)cAc>cGc		C-terminal binding protein 2							131.0	120.0	124.0					10																	126727604		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727604T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.20A>G	10.37:g.126727604T>C	ENSP00000338615:p.His7Arg					CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R	p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	3	419	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	7					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.20A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123856	0.37436	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.28	5.28	0.74379	.	.	.	.	.	T	0.75361	0.3839	L	0.51422	1.61	0.26416	N	0.976171	B	0.02656	0.0	B	0.04013	0.001	T	0.60944	-0.7162	9	0.19147	T	0.46	.	13.9484	0.64101	0.0:0.0:0.0:1.0	rs3208567	7	P56545	CTBP2_HUMAN	R	7	ENSP00000338615:H7R;ENSP00000434630:H7R;ENSP00000436285:H7R;ENSP00000410474:H7R	ENSP00000338615:H7R	H	-	2	0	CTBP2	126717594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	CAC		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		3	78	0	0	0	1	0	3	78				
KIAA2018	205717	broad.mit.edu	37	3	113377453	113377453	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:113377453T>A	ENST00000478658.1	-	5	3093	c.3076A>T	c.(3076-3078)Atg>Ttg	p.M1026L	KIAA2018_ENST00000316407.4_Missense_Mutation_p.M1026L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1026						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATGATCCATCTGATCAGAA	0.348																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(3076-3078)Atg>Ttg		KIAA2018							117.0	107.0	110.0					3																	113377453		1837	4081	5918	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377453T>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3076A>T	3.37:g.113377453T>A	ENSP00000420721:p.Met1026Leu					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.M1026L	p.M1026L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	3486	-			1026					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.3076A>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.523706	0.00959	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13196	2.61;2.61	5.23	1.94	0.25998	.	0.938815	0.08971	N	0.867163	T	0.07818	0.0196	N	0.14661	0.345	0.22127	N	0.999344	B	0.02656	0.0	B	0.01281	0.0	T	0.35822	-0.9773	10	0.49607	T	0.09	-0.4894	4.3598	0.11196	0.2267:0.6042:0.0:0.169	.	1026	Q68DE3	K2018_HUMAN	L	1026	ENSP00000320794:M1026L;ENSP00000420721:M1026L	ENSP00000320794:M1026L	M	-	1	0	KIAA2018	114860143	0.160000	0.22878	0.198000	0.23420	0.008000	0.06430	1.292000	0.33342	0.452000	0.26830	-0.263000	0.10527	ATG		0.348	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		11	112	0	0	0	1	0	11	112				
RASA2	5922	broad.mit.edu	37	3	141289844	141289844	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:141289844C>G	ENST00000452898.1	+	10	989	c.954C>G	c.(952-954)gaC>gaG	p.D318E	RASA2_ENST00000286364.3_Missense_Mutation_p.D318E	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	318					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATACAGAAGACTACGTGCTTC	0.363																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(952-954)gaC>gaG		RAS p21 protein activator 2							48.0	49.0	49.0					3																	141289844		2202	4300	6502	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141289844C>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.954C>G	3.37:g.141289844C>G	ENSP00000391677:p.Asp318Glu					RASA2_ENST00000452898.1_Missense_Mutation_p.D318E	p.D318E			Q15283	RASA2_HUMAN			10	989	+			318					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.954C>G		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008473	0.75046	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.71461	-0.57;-0.57	5.46	2.68	0.31781	Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.999	T	0.75416	-0.3325	10	0.26408	T	0.33	.	9.8033	0.40777	0.0:0.7208:0.0:0.2792	.	318;318;318	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	E	318	ENSP00000286364:D318E;ENSP00000391677:D318E	ENSP00000286364:D318E	D	+	3	2	RASA2	142772534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.310000	0.43708	0.694000	0.31654	0.650000	0.86243	GAC		0.363	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		10	15	0	0	0	1	0	10	15				
TRBV19	28568	broad.mit.edu	37	7	142326869	142326869	+	RNA	SNP	A	A	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr7:142326869A>T	ENST00000390393.3	+	0	375									T cell receptor beta variable 19																		TGGTACCGACAGGACCCAGGG	0.473																																						ENST00000390393.3																			0																				167.0	166.0	166.0					7																	142326869		1937	4135	6072			0							g.chr7:142326869A>T	U48260		7q34	2012-02-07			ENSG00000211746	ENSG00000211746		"""T cell receptors / TRB locus"""	12194	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV17S1A1T, TCRBV19S1			OTTHUMG00000158877		7.37:g.142326869A>T														0	375	+									RNA	SNP	ENST00000390393.3	37																																																																																						0.473	TRBV19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352485.2	NG_001333		5	220	0	0	0	1	0	5	220				
LRRC32	2615	broad.mit.edu	37	11	76371945	76371945	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:76371945T>G	ENST00000407242.2	-	3	934	c.692A>C	c.(691-693)gAg>gCg	p.E231A	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	231					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGAAAGGCCTCGATGCTGTT	0.622																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(691-693)gAg>gCg		leucine rich repeat containing 32							44.0	47.0	46.0					11																	76371945		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371945T>G	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.692A>C	11.37:g.76371945T>G	ENSP00000384126:p.Glu231Ala					LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A|AP001189.4_ENST00000447519.1_RNA	p.E231A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	934	-			231					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.692A>C	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.828010	0.50845	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.80033	-1.33;-1.33;-1.33	4.43	4.43	0.53597	.	0.174596	0.50627	D	0.000118	T	0.78259	0.4255	N	0.21282	0.65	0.50467	D	0.999871	D	0.62365	0.991	P	0.60541	0.876	T	0.73122	-0.4082	10	0.10111	T	0.7	.	13.8515	0.63499	0.0:0.0:0.0:1.0	.	231	Q14392	LRC32_HUMAN	A	231	ENSP00000260061:E231A;ENSP00000384126:E231A;ENSP00000385766:E231A	ENSP00000260061:E231A	E	-	2	0	LRRC32	76049593	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	5.860000	0.69546	1.870000	0.54199	0.379000	0.24179	GAG		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		19	40	0	0	0	1	0	19	40				
KCNB2	9312	broad.mit.edu	37	8	73849510	73849510	+	Silent	SNP	A	A	G	rs372843947		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:73849510A>G	ENST00000523207.1	+	3	2508	c.1920A>G	c.(1918-1920)acA>acG	p.T640T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	640					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCCCAGGGACAGAAGAGCACC	0.602																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1918-1920)acA>acG		potassium voltage-gated channel, Shab-related subfamily, member 2		A		0,4406		0,0,2203	61.0	68.0	66.0		1920	-5.3	0.0	8		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNB2	NM_004770.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		640/912	73849510	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849510A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1920A>G	8.37:g.73849510A>G							p.T640T	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2508	+	Breast(64;0.137)		640					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1920A>G	CCDS6209.1																																																																																				0.602	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	109	0	0	0	1	0	4	109				
ILDR1	286676	broad.mit.edu	37	3	121712253	121712253	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:121712253C>T	ENST00000344209.5	-	7	1469	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H|ILDR1_ENST00000273691.3_Missense_Mutation_p.R404H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	448	Arg-rich.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTGGGCCTGCGGGGCCTCTC	0.677																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1210-1212)cGc>cAc		immunoglobulin-like domain containing receptor 1							19.0	22.0	20.0					3																	121712253		2203	4299	6502	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712253C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1343G>A	3.37:g.121712253C>T	ENSP00000345667:p.Arg448His					ILDR1_ENST00000344209.5_Missense_Mutation_p.R448H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H	p.R404H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	6	1316	-			448					Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.1211G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	3.053	-0.194862	0.06259	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.80909	-0.74;-0.67;-1.43;-0.32	5.02	-0.674	0.11369	.	0.873277	0.10338	N	0.686611	T	0.67524	0.2902	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.12630	0.002;0.0;0.001;0.006	B;B;B;B	0.12837	0.005;0.001;0.002;0.008	T	0.52697	-0.8541	10	0.34782	T	0.22	-7.2866	11.8819	0.52579	0.0:0.6601:0.0:0.3399	.	359;448;404;416	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	H	404;448;359;416	ENSP00000273691:R404H;ENSP00000345667:R448H;ENSP00000377251:R359H;ENSP00000419414:R416H	ENSP00000273691:R404H	R	-	2	0	ILDR1	123194943	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.380000	0.02551	-0.065000	0.13021	-0.940000	0.02684	CGC		0.677	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		6	14	0	0	0	1	0	6	14				
TEP1	7011	broad.mit.edu	37	14	20852762	20852762	+	Missense_Mutation	SNP	C	C	T	rs151250357	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr14:20852762C>T	ENST00000262715.5	-	22	3258	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	TEP1_ENST00000556935.1_Missense_Mutation_p.R965H|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1073					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTCACCTGCGGCAGGTGAT	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17993	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3217-3219)cGc>cAc		telomerase-associated protein 1		C	HIS/ARG	12,4394	19.1+/-41.9	0,12,2191	138.0	150.0	146.0		3218	3.0	1.0	14	dbSNP_134	146	0,8600		0,0,4300	yes	missense	TEP1	NM_007110.4	29	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	probably-damaging	1073/2628	20852762	12,12994	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852762C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3218G>A	14.37:g.20852762C>T	ENSP00000262715:p.Arg1073His					TEP1_ENST00000556935.1_Missense_Mutation_p.R965H	p.R1073H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	22	3258	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1073					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.3218G>A	CCDS9548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.12	1.262477	0.23051	0.002724	0.0	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.19806	2.12;2.12	5.2	3.0	0.34707	.	0.525801	0.22132	N	0.064161	T	0.14787	0.0357	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25521	0.128;0.025;0.078	B;B;B	0.20384	0.029;0.008;0.008	T	0.06770	-1.0808	10	0.22109	T	0.4	.	6.8685	0.24106	0.148:0.6694:0.0:0.1825	.	965;423;1073	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	1073;1073;965	ENSP00000262715:R1073H;ENSP00000452574:R965H	ENSP00000262715:R1073H	R	-	2	0	TEP1	19922602	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	1.029000	0.30140	1.174000	0.42811	0.561000	0.74099	CGC		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		71	147	0	0	0	1	0	71	147				
NOTCH3	4854	broad.mit.edu	37	19	15284920	15284920	+	Silent	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:15284920G>A	ENST00000263388.2	-	25	4770	c.4695C>T	c.(4693-4695)tcC>tcT	p.S1565S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1565					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCGGGGTTCGGAGCCAGGAC	0.687																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4693-4695)tcC>tcT		notch 3							24.0	33.0	30.0					19																	15284920		2178	4275	6453	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15284920G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4695C>T	19.37:g.15284920G>A							p.S1565S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		25	4770	-			1565					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.4695C>T	CCDS12326.1																																																																																				0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		22	32	0	0	0	1	0	22	32				
CDKL5	6792	broad.mit.edu	37	X	18600037	18600037	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:18600037A>G	ENST00000379989.3	+	8	715	c.430A>G	c.(430-432)Agc>Ggc	p.S144G	CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCTCTTAATCAGCCACAATGA	0.303																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(430-432)Agc>Ggc		cyclin-dependent kinase-like 5							109.0	108.0	108.0					X																	18600037		2203	4291	6494	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18600037A>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.430A>G	X.37:g.18600037A>G	ENSP00000369325:p.Ser144Gly					CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			8	715	+	Hepatocellular(33;0.183)		144			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.430A>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547776	0.65311	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.44482	0.92;0.92	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.072163	0.85682	D	0.000000	T	0.42698	0.1214	N	0.12637	0.245	0.45366	D	0.998357	D	0.63880	0.993	P	0.58577	0.841	T	0.50841	-0.8780	10	0.87932	D	0	-20.6611	14.088	0.64971	1.0:0.0:0.0:0.0	.	144	O76039	CDKL5_HUMAN	G	144	ENSP00000369332:S144G;ENSP00000369325:S144G	ENSP00000369325:S144G	S	+	1	0	CDKL5	18509958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.354000	0.79424	2.046000	0.60703	0.486000	0.48141	AGC		0.303	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		34	77	0	0	0	1	0	34	77				
RPS6KA6	27330	broad.mit.edu	37	X	83442862	83442862	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:83442862C>G	ENST00000262752.2	-	1	53	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	RPS6KA6_ENST00000543399.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	16					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTGAACACTTCCATTTCTCGG	0.667																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(46-48)Gaa>Caa		ribosomal protein S6 kinase, 90kDa, polypeptide 6							35.0	31.0	32.0					X																	83442862		2202	4300	6502	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83442862C>G	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.46G>C	X.37:g.83442862C>G	ENSP00000262752:p.Glu16Gln					RPS6KA6_ENST00000543399.1_5'UTR	p.E16Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			1	53	-			16					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.46G>C	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918683	0.17982	.	.	ENSG00000072133	ENST00000262752	T	0.70045	-0.45	3.43	2.56	0.30785	.	0.509796	0.17824	N	0.160760	T	0.51398	0.1672	L	0.55481	1.735	0.80722	D	1	B	0.31893	0.345	B	0.24701	0.055	T	0.33979	-0.9847	10	0.13853	T	0.58	.	5.7653	0.18224	0.0:0.8504:0.0:0.1496	.	16	Q9UK32	KS6A6_HUMAN	Q	16	ENSP00000262752:E16Q	ENSP00000262752:E16Q	E	-	1	0	RPS6KA6	83329518	.	.	1.000000	0.80357	0.676000	0.39594	.	.	0.821000	0.34540	0.422000	0.28245	GAA		0.667	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		8	17	0	0	0	1	0	8	17				
KRT18	3875	broad.mit.edu	37	12	53344556	53344556	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:53344556C>T	ENST00000388835.3	+	3	733	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C|KRT18_ENST00000550600.1_Missense_Mutation_p.R175C	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	175	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGCCATGCGCCAGTCTGT	0.527																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(523-525)Cgc>Tgc		keratin 18							43.0	39.0	40.0					12																	53344556		2203	4300	6503	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344556C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.523C>T	12.37:g.53344556C>T	ENSP00000373487:p.Arg175Cys					KRT18_ENST00000388835.3_Missense_Mutation_p.R175C|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C	p.R175C			P05783	K1C18_HUMAN			4	577	+			175			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.523C>T	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.914725	0.52546	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.91792	-2.91;-2.91;-2.91	3.85	3.85	0.44370	Filament (1);	0.094954	0.43919	D	0.000509	D	0.88164	0.6363	L	0.41079	1.255	0.80722	D	1	B;B	0.19073	0.005;0.033	B;B	0.17979	0.005;0.02	D	0.86513	0.1811	10	0.72032	D	0.01	.	14.0698	0.64852	0.0:1.0:0.0:0.0	.	175;175	F8VZY9;P05783	.;K1C18_HUMAN	C	175	ENSP00000373489:R175C;ENSP00000447278:R175C;ENSP00000373487:R175C	ENSP00000373487:R175C	R	+	1	0	KRT18	51630823	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.725000	0.61979	2.427000	0.82271	0.561000	0.74099	CGC		0.527	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		4	9	0	0	0	1	0	4	9				
GTF3C1	2975	broad.mit.edu	37	16	27503949	27503949	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr16:27503949C>G	ENST00000356183.4	-	18	2977	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	988					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGATCTTTATCCTGAAACTTT	0.488																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2962-2964)Gat>Cat		general transcription factor IIIC, polypeptide 1, alpha 220kDa							147.0	153.0	151.0					16																	27503949		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503949C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2962G>C	16.37:g.27503949C>G	ENSP00000348510:p.Asp988His					GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			18	2977	-			988					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2962G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825294	0.90955	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26957	1.7	5.43	5.43	0.79202	.	0.165819	0.53938	D	0.000054	T	0.53834	0.1821	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.965;0.988	T	0.57118	-0.7866	10	0.87932	D	0	-20.7655	18.8685	0.92303	0.0:1.0:0.0:0.0	.	988;988	Q12789;Q12789-3	TF3C1_HUMAN;.	H	988;986	ENSP00000348510:D988H	ENSP00000348510:D988H	D	-	1	0	GTF3C1	27411450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.547000	0.85894	0.655000	0.94253	GAT		0.488	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		7	134	0	0	0	1	0	7	134				
CEP68	23177	broad.mit.edu	37	2	65298777	65298777	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298777T>C	ENST00000377990.2	+	3	750	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGTGGAAGTCCGTGCTGAG	0.607																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(547-549)Tcc>Ccc		centrosomal protein 68kDa							81.0	68.0	73.0					2																	65298777		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298777T>C	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.547T>C	2.37:g.65298777T>C	ENSP00000367229:p.Ser183Pro					CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P	p.S183P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	750	+			183					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.547T>C	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365887	0.24684	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.20881	2.06;2.04;2.04	5.11	-1.54	0.08584	.	1.034710	0.07662	N	0.933809	T	0.10594	0.0259	N	0.12182	0.205	0.18873	N	0.999986	B;B;B;B;B	0.14012	0.009;0.009;0.004;0.009;0.009	B;B;B;B;B	0.15484	0.013;0.013;0.009;0.013;0.013	T	0.36163	-0.9759	10	0.31617	T	0.26	-1.8544	6.4499	0.21898	0.0:0.3915:0.1485:0.46	.	171;183;183;183;183	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	P	183;183;183;171	ENSP00000367229:S183P;ENSP00000438306:S183P;ENSP00000260569:S183P	ENSP00000260569:S183P	S	+	1	0	CEP68	65152281	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.335000	0.07873	-0.278000	0.09180	-0.331000	0.08364	TCC		0.607	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		11	32	0	0	0	1	0	11	32				
CTSB	1508	broad.mit.edu	37	8	11710899	11710899	+	Missense_Mutation	SNP	G	G	A	rs144593312		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:11710899G>A	ENST00000353047.6	-	2	318	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CTSB_ENST00000453527.2_Missense_Mutation_p.S22F|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	22					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GGGATGGAAAGAGGGCCTGCT	0.597																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(64-66)tCt>tTt		cathepsin B		G	PHE/SER,PHE/SER,PHE/SER,PHE/SER,PHE/SER	0,4406		0,0,2203	113.0	92.0	99.0		65,65,65,65,65	-4.8	0.0	8	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CTSB	NM_001908.3,NM_147780.2,NM_147781.2,NM_147782.2,NM_147783.2	155,155,155,155,155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	22/340,22/340,22/340,22/340,22/340	11710899	1,13005	2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11710899G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.65C>T	8.37:g.11710899G>A	ENSP00000345672:p.Ser22Phe					CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F|CTSB_ENST00000453527.2_Missense_Mutation_p.S22F	p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	2	318	-	all_epithelial(15;0.205)		22					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.65C>T	CCDS5986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.266|0.266	-0.996204|-0.996204	0.02145|0.02145	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164733|ENSG00000164733	ENST00000541328|ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382;ENST00000528965;ENST00000524654	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T;T	.|0.84298	.|-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;1.44;1.44;1.42;0.39	5.16|5.16	-4.85|-4.85	0.03142|0.03142	.|.	.|1.003180	.|0.08017	.|N	.|0.991458	T|T	0.68403|0.68403	0.2997|0.2997	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.52465|0.52465	-0.8572|-0.8572	5|10	.|0.30854	.|T	.|0.27	.|.	9.3412|9.3412	0.38080|0.38080	0.077:0.0715:0.6132:0.2383|0.077:0.0715:0.6132:0.2383	.|.	.|22	.|P07858	.|CATB_HUMAN	F|F	7|22	.|ENSP00000415889:S22F;ENSP00000345672:S22F;ENSP00000435105:S22F;ENSP00000433215:S22F;ENSP00000409917:S22F;ENSP00000411254:S22F;ENSP00000342070:S22F;ENSP00000432244:S22F;ENSP00000434217:S22F;ENSP00000436159:S22F;ENSP00000433995:S22F;ENSP00000435074:S22F;ENSP00000436627:S22F;ENSP00000434725:S22F;ENSP00000436122:S22F;ENSP00000431518:S22F;ENSP00000435650:S22F;ENSP00000436074:S22F;ENSP00000435886:S22F;ENSP00000431143:S22F;ENSP00000435260:S22F;ENSP00000433929:S22F;ENSP00000432077:S22F	.|ENSP00000342070:S22F	L|S	-|-	1|2	0|0	CTSB|CTSB	11748308|11748308	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.078000|0.078000	0.17371|0.17371	-0.202000|-0.202000	0.09451|0.09451	-0.656000|-0.656000	0.05380|0.05380	-0.521000|-0.521000	0.04368|0.04368	CTT|TCT		0.597	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		4	80	0	0	0	1	0	4	80				
NHS	4810	broad.mit.edu	37	X	17750478	17750478	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:17750478T>C	ENST00000380060.3	+	8	5125	c.4787T>C	c.(4786-4788)gTc>gCc	p.V1596A	NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1617					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGCTACAGTGTCCGCTGCCGG	0.587																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4786-4788)gTc>gCc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							51.0	51.0	51.0					X																	17750478		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750478T>C		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4787T>C	X.37:g.17750478T>C	ENSP00000369400:p.Val1596Ala					NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	p.V1596A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	5125	+	Hepatocellular(33;0.183)		1596					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4787T>C	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444003	0.63067	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.47177	0.85;0.86	5.87	4.71	0.59529	.	0.258804	0.38663	N	0.001611	T	0.56572	0.1994	M	0.62723	1.935	0.40906	D	0.98419	B;B;B;P	0.42757	0.021;0.003;0.003;0.789	B;B;B;P	0.51385	0.027;0.011;0.011;0.668	T	0.59091	-0.7519	10	0.62326	D	0.03	-11.4074	11.1542	0.48478	0.0:0.0726:0.0:0.9274	.	1617;1438;1440;1596	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	A	1596;1440;1438	ENSP00000369400:V1596A;ENSP00000381170:V1440A	ENSP00000369397:V1438A	V	+	2	0	NHS	17660399	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.640000	0.46579	0.927000	0.37143	-0.314000	0.08810	GTC		0.587	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		30	63	0	0	0	1	0	30	63				
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:206858676_206858678delGCC	ENST00000367103.3	+	1	295_297	c.102_104delGCC	c.(100-105)cagccg>cag	p.P40del	MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.P40del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	40	Poly-Pro.|Pro-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(100-105)cag>ca		mitogen-activated protein kinase-activated protein kinase 2			,	167,4,3953		6,0,155,1,2,1898					,	-5.2	0.0			6	431,34,7567		13,0,405,2,30,3566	no	codingComplex,codingComplex	MAPKAPK2	NM_032960.3,NM_004759.4	,	19,0,560,3,32,5464	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7893,4.1465,5.232	,	,		598,38,11520				SO:0001651	inframe_deletion	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206858676_206858678delGCC	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.102_104delGCC	1.37:g.206858685_206858687delGCC	ENSP00000356070:p.Pro40del					MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.QP34del	p.QP34del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	295_297	+	Breast(84;0.183)		34			Pro-rich.		Q5SY30|Q5SY41|Q8IYD6	In_Frame_Del	DEL	ENST00000367103.3	37	c.102_104delGCC	CCDS31001.1																																																																																				0.729	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		2	4						2	4	---	---	---	---
TRBV6-9	28598	broad.mit.edu	37	7	142104391	142104394	+	RNA	DEL	TGAG	TGAG	-			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr7:142104391_142104394delTGAG	ENST00000390379.1	-	0	70_73									T cell receptor beta variable 6-9																		TTTTGGGGTCTGAGTGACACCAGC	0.539																																						ENST00000390379.1																			0																																																			0							g.chr7:142104391_142104394delTGAG	X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104391_142104394delTGAG														0	70_73	-									RNA	DEL	ENST00000390379.1	37																																																																																						0.539	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352517.1	NG_001333		8	76						8	76	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680655	81680656	+	RNA	INS	-	-	A	rs369157879|rs567381624|rs577659427	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:81680655_81680656insA	ENST00000480805.1	+	0	722_723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		AGCTTTTGGGGAAAAAAAAAAG	0.545																																						ENST00000480805.1																			0																																																			0							g.chr10:81680655_81680656insA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680665_81680665dupA								NR_002724.2						0	722_723	+									RNA	INS	ENST00000480805.1	37																																																																																						0.545	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			3	4						3	4	---	---	---	---
FAM106A	80039	broad.mit.edu	37	17	18431578	18431579	+	5'Flank	INS	-	-	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:18431578_18431579insT	ENST00000392176.3	-	0	0				CTD-2303H24.2_ENST00000425211.1_RNA			Q4KMX7	F106A_HUMAN	family with sequence similarity 106, member A																		TGACCTCGGGCTTTTTTTTTCT	0.441																																						ENST00000425211.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:18431578_18431579insT	AK021862		17p11.2	2013-01-17			ENSG00000213077	ENSG00000213077			25682	other	unknown						14702039	Standard	NR_026809		Approved	FLJ11800	uc002gtz.2	Q4KMX7	OTTHUMG00000179516		17.37:g.18431587_18431587dupT	Exception_encountered													0	1497	-								Q9HAD1	RNA	INS	ENST00000392176.3	37																																																																																						0.441	FAM106A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000446827.1	NR_026809		2	4						2	4	---	---	---	---
SERPINB10	5273	broad.mit.edu	37	18	61584738	61584739	+	Frame_Shift_Ins	INS	-	-	A	rs201620640		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr18:61584738_61584739insA	ENST00000238508.3	+	3	276_277	c.217_218insA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAGG	0.282																																						ENST00000238508.3																			1	Deletion - Frameshift(1)	p.R76fs*7(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(217-219)aaafs		serpin peptidase inhibitor, clade B (ovalbumin), member 10																																				SO:0001589	frameshift_variant	5273							g.chr18:61584738_61584739insA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.226dupA	18.37:g.61584747_61584747dupA	ENSP00000238508:p.Glu73fs						p.K73fs	NM_005024.1	NP_005015.1					3	276_277	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Frame_Shift_Ins	INS	ENST00000238508.3	37	c.217_218insA	CCDS11990.1																																																																																				0.282	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		3	6						3	6	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33462750	33462750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:33462750delT	ENST00000305768.5	-	1	119	c.31delA	c.(31-33)agtfs	p.S11fs	C19orf40_ENST00000589646.1_5'Flank|C19orf40_ENST00000588258.1_5'Flank|CEP89_ENST00000590597.2_Frame_Shift_Del_p.S11fs|C19orf40_ENST00000590281.1_5'Flank|CEP89_ENST00000591863.1_5'UTR|C19orf40_ENST00000590179.1_5'Flank	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	11					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ACGAAATGACTCCTGCGGCCT	0.617																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(31-33)gtfs		centrosomal protein 89kDa							25.0	23.0	23.0					19																	33462750		2202	4296	6498	SO:0001589	frameshift_variant	84902					centrosome|spindle pole		g.chr19:33462750delT	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.31delA	19.37:g.33462750delT	ENSP00000306105:p.Ser11fs					CEP89_ENST00000590597.1_Frame_Shift_Del_p.S11fs|CEP89_ENST00000591863.1_5'UTR	p.S11fs	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			1	119	-			11					B9EGA6|Q8N5J8	Frame_Shift_Del	DEL	ENST00000305768.5	37	c.31delA	CCDS32987.1																																																																																				0.617	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		2	4						2	4	---	---	---	---
