#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
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	p.H179R	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)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	18	0	0	0	0.693898	0	26	18				
OR2B6	26212	broad.mit.edu	37	6	27925799	27925799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:27925799C>T	ENST00000244623.1	+	1	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGTACCTGCAACCACCTTC	0.448																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(781-783)Caa>Taa		olfactory receptor, family 2, subfamily B, member 6							146.0	139.0	141.0					6																	27925799		2203	4300	6503	SO:0001587	stop_gained	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925799C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.781C>T	6.37:g.27925799C>T	ENSP00000244623:p.Gln261*						p.Q261*	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	781	+			261					O43883|Q6IF89|Q9H5B0	Nonsense_Mutation	SNP	ENST00000244623.1	37	c.781C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	8.260	0.811046	0.16537	.	.	ENSG00000124657	ENST00000244623	.	.	.	3.82	3.82	0.43975	.	0.267649	0.18833	U	0.129910	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.4117	0.38496	0.2132:0.7868:0.0:0.0	.	.	.	.	X	261	.	ENSP00000244623:Q261X	Q	+	1	0	OR2B6	28033778	0.006000	0.16342	0.085000	0.20634	0.110000	0.19582	2.148000	0.42235	2.044000	0.60594	0.591000	0.81541	CAA		0.448	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			24	119	0	0	0	0.639603	0	24	119				
OVCH1	341350	broad.mit.edu	37	12	29618094	29618094	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:29618094C>G	ENST00000318184.5	-	17	1914	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	639	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGTTGATTCCTTCAGGTTT	0.378																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1915-1917)Gaa>Caa		ovochymase 1							97.0	93.0	94.0					12																	29618094		1843	4081	5924	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29618094C>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1915G>C	12.37:g.29618094C>G	ENSP00000326708:p.Glu639Gln					OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.E639Q	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			17	1914	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		639			Peptidase S1 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1915G>C		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888823	0.52014	.	.	ENSG00000187950	ENST00000318184	D	0.89746	-2.56	2.63	1.73	0.24493	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90242	0.6949	L	0.45698	1.435	0.27749	N	0.944236	D	0.76494	0.999	D	0.67900	0.954	T	0.81295	-0.0997	9	0.38643	T	0.18	.	8.729	0.34487	0.0:0.8788:0.0:0.1212	.	639	Q7RTY7	OVCH1_HUMAN	Q	639	ENSP00000326708:E639Q	ENSP00000326708:E639Q	E	-	1	0	OVCH1	29509361	0.756000	0.28383	0.688000	0.30117	0.996000	0.88848	1.651000	0.37302	0.671000	0.31185	0.655000	0.94253	GAA		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		2	5	0	0	0	0.115264	0	2	5				
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144.0	127.0	133.0					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	88	0	0	0	0.150653	0	3	88				
AMPD2	271	broad.mit.edu	37	1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T	rs373128067		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W|AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W|AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19990	0.001		0.0	False		,,,				2504	0.0					ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1369-1371)Cgg>Tgg		adenosine monophosphate deaminase 2		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	72.0	71.0	71.0		1369,1126,1012	3.1	1.0	1		71	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	AMPD2	NM_004037.6,NM_139156.2,NM_203404.1	101,101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	457/880,376/799,338/761	110170831	2,13004	2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170831C>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1369C>T	1.37:g.110170831C>T	ENSP00000256578:p.Arg457Trp					AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W	p.R457W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1729	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	457					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1369C>T	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.558187|3.558187	0.65538|0.65538	0.0|0.0	2.33E-4|2.33E-4	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.84298	.|-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.04|5.04	3.13|3.13	0.36017|0.36017	.|Adenosine/AMP deaminase (1);	.|0.182497	.|0.45867	.|D	.|0.000340	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.78916|0.78916	2.43|2.43	0.31269|0.31269	N|N	0.692021|0.692021	.|D;D;D;D	.|0.76494	.|0.966;0.982;0.999;0.982	.|B;P;P;P	.|0.55749	.|0.332;0.559;0.783;0.559	D|D	0.83654|0.83654	0.0157|0.0157	5|10	.|0.87932	.|D	.|0	-35.2044|-35.2044	12.6585|12.6585	0.56801|0.56801	0.4249:0.5751:0.0:0.0|0.4249:0.5751:0.0:0.0	.|.	.|382;338;457;376	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|W	427|376;457;457;382;339;338	.|ENSP00000345498:R376W;ENSP00000436541:R457W;ENSP00000256578:R457W;ENSP00000351573:R382W;ENSP00000437164:R339W;ENSP00000377292:R338W	.|ENSP00000256578:R457W	A|R	+|+	2|1	0|2	AMPD2|AMPD2	109972354|109972354	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	2.191000|2.191000	0.42640|0.42640	0.685000|0.685000	0.31468|0.31468	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			12	19	0	0	0	0.435327	0	12	19				
TDO2	6999	broad.mit.edu	37	4	156831281	156831281	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:156831281A>T	ENST00000536354.2	+	6	600	c.536A>T	c.(535-537)cAt>cTt	p.H179L		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AACAGAAGACATTATCGTGAT	0.373																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(535-537)cAt>cTt		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						93.0	98.0	97.0					4																	156831281		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156831281A>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.536A>T	4.37:g.156831281A>T	ENSP00000444788:p.His179Leu						p.H179L	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	6	600	+	all_hematologic(180;0.24)	Renal(120;0.0854)	179						Missense_Mutation	SNP	ENST00000536354.2	37	c.536A>T	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733571	0.69189	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.80183	2.485	0.80722	D	1	B	0.25390	0.125	B	0.27380	0.079	T	0.67522	-0.5649	8	.	.	.	-25.2102	15.1239	0.72465	1.0:0.0:0.0:0.0	.	179	P48775	T23O_HUMAN	L	179	.	.	H	+	2	0	TDO2	157050731	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	9.274000	0.95731	2.027000	0.59764	0.514000	0.50259	CAT		0.373	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		11	128	0	0	0	0.411799	0	11	128				
PCSK9	255738	broad.mit.edu	37	1	55523126	55523126	+	Silent	SNP	C	C	T	rs139683719		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:55523126C>T	ENST00000302118.5	+	7	1409	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.S173S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	373	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCCTCCAGCGACTGCAGCA	0.617																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1117-1119)agC>agT		proprotein convertase subtilisin/kexin type 9		C		0,4406		0,0,2203	71.0	59.0	63.0		1119	-0.2	1.0	1	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCSK9	NM_174936.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		373/693	55523126	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523126C>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1119C>T	1.37:g.55523126C>T						PCSK9_ENST00000543384.1_Silent_p.S173S|PCSK9_ENST00000490692.1_3'UTR	p.S373S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			7	1409	+			373			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1119C>T	CCDS603.1																																																																																				0.617	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		7	25	0	0	0	0.278610	0	7	25				
ACSL1	2180	broad.mit.edu	37	4	185679015	185679015	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:185679015C>G	ENST00000515030.1	-	19	2167	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	ACSL1_ENST00000454703.2_Missense_Mutation_p.K443N|ACSL1_ENST00000507295.1_Missense_Mutation_p.K580N|ACSL1_ENST00000504342.1_Missense_Mutation_p.K614N|ACSL1_ENST00000513317.1_Missense_Mutation_p.K614N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K443N|ACSL1_ENST00000281455.2_Missense_Mutation_p.K614N			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	614					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAATCCTCTCTTTTGGGCCC	0.408																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1840-1842)aaG>aaC		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						180.0	175.0	177.0					4																	185679015		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185679015C>G	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1842G>C	4.37:g.185679015C>G	ENSP00000422607:p.Lys614Asn					ACSL1_ENST00000504342.1_Missense_Mutation_p.K614N|ACSL1_ENST00000454703.2_Missense_Mutation_p.K443N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K443N|ACSL1_ENST00000281455.2_Missense_Mutation_p.K614N|ACSL1_ENST00000507295.1_Missense_Mutation_p.K580N|ACSL1_ENST00000513317.1_Missense_Mutation_p.K614N	p.K614N			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	19	2167	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	614					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1842G>C	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	7.932	0.740977	0.15642	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.69	4.86	0.63082	.	0.137036	0.64402	D	0.000003	T	0.15003	0.0362	L	0.45698	1.435	0.58432	D	0.999995	B;B;B;B	0.16166	0.011;0.005;0.009;0.016	B;B;B;B	0.17979	0.006;0.009;0.009;0.02	T	0.05818	-1.0862	10	0.45353	T	0.12	-12.0217	6.9069	0.24313	0.0:0.7096:0.0:0.2904	.	580;614;614;604	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	N	443;614;210;614;580;443;614;614	ENSP00000407165:K443N;ENSP00000422607:K614N;ENSP00000425098:K210N;ENSP00000281455:K614N;ENSP00000426244:K580N;ENSP00000405687:K443N;ENSP00000425006:K614N;ENSP00000426150:K614N	ENSP00000281455:K614N	K	-	3	2	ACSL1	185916009	0.996000	0.38824	0.871000	0.34182	0.162000	0.22319	0.719000	0.25881	1.418000	0.47098	0.655000	0.94253	AAG		0.408	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		6	127	0	0	0	0.307466	0	6	127				
LGSN	51557	broad.mit.edu	37	6	63990534	63990534	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:63990534A>G	ENST00000370657.4	-	4	955	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	308					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATCACAAAATCCAGTCTCA	0.428																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(922-924)Ttt>Ctt		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						72.0	72.0	72.0					6																	63990534		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990534A>G	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.922T>C	6.37:g.63990534A>G	ENSP00000359691:p.Phe308Leu					LGSN_ENST00000370658.5_Intron	p.F308L			Q5TDP6	LGSN_HUMAN			4	955	-			308					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.922T>C	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.338411	0.01287	.	.	ENSG00000146166	ENST00000370657	D	0.84873	-1.91	5.5	1.78	0.24846	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.293960	0.41938	N	0.000781	T	0.59459	0.2195	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.56721	-0.7932	10	0.72032	D	0.01	-2.293	1.7712	0.03012	0.5776:0.1406:0.147:0.1348	.	308	Q5TDP6	LGSN_HUMAN	L	308	ENSP00000359691:F308L	ENSP00000359691:F308L	F	-	1	0	LGSN	64048493	0.867000	0.29959	0.884000	0.34674	0.003000	0.03518	1.667000	0.37471	0.067000	0.16545	-0.250000	0.11733	TTT		0.428	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		10	50	0	0	0	0.361761	0	10	50				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	28	0	0	0	0.248553	0	6	28				
CSRP2BP	57325	broad.mit.edu	37	20	18139760	18139760	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:18139760C>T	ENST00000435364.3	+	4	874	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A50V|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.A178V	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	178					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGCACCGTGGCAGGTTGCCTC	0.468																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(532-534)gCa>gTa		CSRP2 binding protein							72.0	70.0	71.0					20																	18139760		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18139760C>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.533C>T	20.37:g.18139760C>T	ENSP00000392318:p.Ala178Val					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A50V|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.A178V|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.A178V	p.A178V			Q9H8E8	CSR2B_HUMAN			5	1183	+			178					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.533C>T	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750037	0.89753	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.18502	2.37;2.38;2.37;2.21	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.52573	1.65	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.01045	-1.1470	10	0.40728	T	0.16	-15.2157	20.0149	0.97475	0.0:1.0:0.0:0.0	.	50;178	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	V	178;178;178;50	ENSP00000278816:A178V;ENSP00000366909:A178V;ENSP00000392318:A178V;ENSP00000425909:A50V	ENSP00000278816:A178V	A	+	2	0	CSRP2BP	18087760	1.000000	0.71417	0.279000	0.24732	0.557000	0.35523	7.347000	0.79356	2.793000	0.96121	0.650000	0.86243	GCA		0.468	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		13	34	0	0	0	0.539581	0	13	34				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	98	0	0	0	0.248553	0	6	98				
C3orf70	285382	broad.mit.edu	37	3	184870438	184870438	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:184870438G>A	ENST00000335012.2	-	1	364	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	58										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTAGGTGACAGCACCAGTGCA	0.692																																						ENST00000335012.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						c.(172-174)tgC>tgT		chromosome 3 open reading frame 70							32.0	28.0	29.0					3																	184870438		2201	4298	6499	SO:0001819	synonymous_variant	285382							g.chr3:184870438G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.174C>T	3.37:g.184870438G>A							p.C58C	NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN			1	364	-			58					B2RNY2|B9EH83	Silent	SNP	ENST00000335012.2	37	c.174C>T	CCDS33900.1																																																																																				0.692	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		2	6	0	0	0	0.115264	0	2	6				
ARHGEF38	54848	broad.mit.edu	37	4	106474027	106474027	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:106474027C>A	ENST00000420470.2	+	1	249	c.105C>A	c.(103-105)gaC>gaA	p.D35E	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.D35E|AC004066.3_ENST00000514879.1_RNA	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	35						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GGAAGACTGACACTGTGGTTG	0.468																																						ENST00000420470.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						c.(103-105)gaC>gaA		Rho guanine nucleotide exchange factor (GEF) 38							96.0	91.0	93.0					4																	106474027		2203	4300	6503	SO:0001583	missense	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106474027C>A	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.105C>A	4.37:g.106474027C>A	ENSP00000416125:p.Asp35Glu					ARHGEF38_ENST00000265154.2_Missense_Mutation_p.D35E	p.D35E	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN			1	249	+			35					C9JIB4	Missense_Mutation	SNP	ENST00000420470.2	37	c.105C>A	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095635	0.36952	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.56611	1.65;0.45	5.87	5.02	0.67125	.	0.052998	0.64402	D	0.000001	T	0.66187	0.2764	L	0.55103	1.725	0.30766	N	0.743499	D	0.76494	0.999	D	0.78314	0.991	T	0.67914	-0.5547	10	0.40728	T	0.16	-8.7378	13.0803	0.59109	0.0:0.9206:0.0:0.0794	.	35	Q9NXL2	ARH38_HUMAN	E	35	ENSP00000265154:D35E;ENSP00000416125:D35E	ENSP00000265154:D35E	D	+	3	2	ARHGEF38	106693476	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	1.334000	0.33827	1.464000	0.47987	0.655000	0.94253	GAC		0.468	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		3	41	1	0	0.115264	0.115264	0.118297	3	41				
TRIP4	9325	broad.mit.edu	37	15	64716294	64716294	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr15:64716294A>T	ENST00000261884.3	+	10	1483	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*	RN7SL707P_ENST00000582206.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	475					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCTAAAAAACCCTCCCC	0.448																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1423-1425)Aaa>Taa		thyroid hormone receptor interactor 4							95.0	88.0	90.0					15																	64716294		2203	4300	6503	SO:0001587	stop_gained	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64716294A>T	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1423A>T	15.37:g.64716294A>T	ENSP00000261884:p.Lys475*						p.K475*	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			10	1483	+			475					B2RAS0|Q96ED7|Q9UKH0	Nonsense_Mutation	SNP	ENST00000261884.3	37	c.1423A>T	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	A	38	7.136482	0.98088	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.8	5.8	0.92144	.	0.320370	0.41605	D	0.000849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2389	12.0649	0.53581	0.8564:0.1435:0.0:0.0	.	.	.	.	X	475	.	ENSP00000261884:K475X	K	+	1	0	TRIP4	62503347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.807000	0.75201	2.227000	0.72691	0.460000	0.39030	AAA		0.448	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		21	43	0	0	0	0.575678	0	21	43				
OAS2	4939	broad.mit.edu	37	12	113447044	113447044	+	Splice_Site	SNP	C	C	T	rs147522268	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:113447044C>T	ENST00000342315.4	+	10	2262	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.P683L	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAAAGTGCCGGTAAAAGTC	0.458																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2047-2049)cCg>cTg		2'-5'-oligoadenylate synthetase 2, 69/71kDa		C	LEU/PRO,LEU/PRO	3,4403		0,3,2200	180.0	180.0	180.0		2048,2048	4.4	0.1	12	dbSNP_134	180	0,8600		0,0,4300	yes	missense,missense-near-splice	OAS2	NM_002535.2,NM_016817.2	98,98	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	683/688,683/720	113447044	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447044C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2049+1C>T	12.37:g.113447044C>T						OAS2_ENST00000342315.4_Splice_Site_p.P683_splice|RP1-71H24.1_ENST00000552784.1_RNA	p.P683L	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			10	2255	+			683			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2048C>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.946868	0.53186	6.81E-4	0.0	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.40756	1.02;1.02	4.39	4.39	0.52855	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.809574	0.10268	N	0.695164	T	0.57051	0.2027	L	0.44542	1.39	0.54753	D	0.999988	D;D	0.89917	1.0;0.987	D;P	0.91635	0.999;0.657	T	0.49579	-0.8925	10	0.51188	T	0.08	-29.1712	12.3138	0.54944	0.0:1.0:0.0:0.0	.	683;683	P29728;P29728-2	OAS2_HUMAN;.	L	683	ENSP00000342278:P683L;ENSP00000376362:P683L	ENSP00000342278:P683L	P	+	2	0	OAS2	111931427	0.039000	0.19947	0.084000	0.20598	0.003000	0.03518	1.175000	0.31944	2.269000	0.75478	0.655000	0.94253	CCG		0.458	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		Missense_Mutation	11	255	0	0	0	0.411799	0	11	255				
NFKBIZ	64332	broad.mit.edu	37	3	101576203	101576203	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:101576203C>A	ENST00000326172.5	+	11	2118	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A568D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A546D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	668	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTAGATGCTGTCCGCCTG	0.502																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(2002-2004)gCt>gAt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							97.0	85.0	89.0					3																	101576203		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101576203C>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.2003C>A	3.37:g.101576203C>A	ENSP00000325663:p.Ala668Asp					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A568D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A546D	p.A668D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			11	2118	+			668			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.2003C>A	CCDS2946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.162775|4.162775	0.78226|0.78226	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172|ENST00000477601	T;T;T;T|.	0.66280|.	-0.16;-0.16;-0.2;-0.2|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84732|0.84732	0.5537|0.5537	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.995|.	D|D	0.85139|0.85139	0.0979|0.0979	10|5	0.72032|.	D|.	0.01|.	-12.0083|-12.0083	20.452|20.452	0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	546;668|.	Q9BYH8-3;Q9BYH8|.	.;IKBZ_HUMAN|.	D|M	568;568;546;668|80	ENSP00000419800:A568D;ENSP00000377618:A568D;ENSP00000325593:A546D;ENSP00000325663:A668D|.	ENSP00000325593:A546D|.	A|L	+|+	2|1	0|2	NFKBIZ|NFKBIZ	103058893|103058893	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.325000|0.325000	0.28411|0.28411	7.445000|7.445000	0.80570|0.80570	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GCT|CTG		0.502	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		5	59	1	0	0.014758	0.184627	0.0155557	5	59				
NECAB3	63941	broad.mit.edu	37	20	32246615	32246615	+	Missense_Mutation	SNP	A	A	C	rs201103253		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:32246615A>C	ENST00000246190.6	-	9	960	c.905T>G	c.(904-906)gTc>gGc	p.V302G	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	302	ABM.				protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.V302G(1)		large_intestine(3)|lung(5)|skin(2)	10						TGCCACCTGGACCTGCCTCTG	0.672																																						ENST00000246190.6																			1	Substitution - Missense(1)	p.V302G(1)	lung(1)	large_intestine(3)|lung(5)|skin(2)	10						c.(904-906)gTc>gGc		N-terminal EF-hand calcium binding protein 3																																				SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32246615A>C	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.905T>G	20.37:g.32246615A>C	ENSP00000246190:p.Val302Gly					NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G|NECAB3_ENST00000606525.1_5'UTR	p.V302G	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			9	960	-			302					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.905T>G	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074283	0.76415	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.32753	1.48;1.48;1.44	4.89	4.89	0.63831	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.211497	0.40728	N	0.001038	T	0.40473	0.1118	L	0.44542	1.39	0.58432	D	0.999998	D;D;P	0.53619	0.961;0.961;0.584	P;P;B	0.54590	0.756;0.756;0.398	T	0.32079	-0.9920	10	0.87932	D	0	-53.2256	13.4869	0.61371	1.0:0.0:0.0:0.0	.	179;302;268	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	G	268;302;250	ENSP00000364386:V268G;ENSP00000246190:V302G;ENSP00000392064:V250G	ENSP00000246190:V302G	V	-	2	0	NECAB3	31710276	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.834000	0.69361	1.841000	0.53522	0.379000	0.24179	GTC		0.672	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			5	15	0	0	0	0.278610	0	5	15				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	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			17	60	0	0	0	0.520397	0	17	60				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	38	0	0	0	0.150653	0	3	38				
FOXP1	27086	broad.mit.edu	37	3	71096104	71096104	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:71096104G>A	ENST00000318789.4	-	10	1178	c.653C>T	c.(652-654)cCt>cTt	p.P218L	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.P218L|FOXP1_ENST00000468577.1_Missense_Mutation_p.P218L|FOXP1_ENST00000491238.1_Missense_Mutation_p.P220L|FOXP1_ENST00000493089.1_Missense_Mutation_p.P218L|FOXP1_ENST00000484350.1_Missense_Mutation_p.P142L|FOXP1_ENST00000498215.1_Missense_Mutation_p.P218L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	218	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTGAGCAAGAGGTTGAAGGGG	0.502			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(652-654)cCt>cTt		forkhead box P1							179.0	183.0	181.0					3																	71096104		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096104G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.653C>T	3.37:g.71096104G>A	ENSP00000318902:p.Pro218Leu					FOXP1_ENST00000484350.1_Missense_Mutation_p.P142L|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000498215.1_Missense_Mutation_p.P218L|FOXP1_ENST00000491238.1_Missense_Mutation_p.P220L|FOXP1_ENST00000468577.1_Missense_Mutation_p.P218L|FOXP1_ENST00000493089.1_Missense_Mutation_p.P218L|FOXP1_ENST00000475937.1_Missense_Mutation_p.P218L	p.P218L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1178	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	218			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.653C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534306	0.85812	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.31769	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.48	6.03	6.03	0.97812	.	0.286767	0.43747	D	0.000530	T	0.21761	0.0524	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.32829	0.386;0.034;0.035;0.02	B;B;B;B	0.28232	0.087;0.027;0.012;0.012	T	0.04386	-1.0955	10	0.46703	T	0.11	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	217;218;142;218	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	L	218;118;218;218;114;220;218;218;142;218;118;118	ENSP00000318902:P218L;ENSP00000419393:P218L;ENSP00000418225:P114L;ENSP00000420736:P220L;ENSP00000418524:P218L;ENSP00000418102:P218L;ENSP00000417857:P142L;ENSP00000418883:P218L;ENSP00000417941:P118L;ENSP00000418784:P118L	ENSP00000318902:P218L	P	-	2	0	FOXP1	71178794	1.000000	0.71417	0.858000	0.33744	0.994000	0.84299	8.878000	0.92393	2.854000	0.98071	0.655000	0.94253	CCT		0.502	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		18	281	0	0	0	0.520397	0	18	281				
SLC33A1	9197	broad.mit.edu	37	3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:155571395G>A	ENST00000392845.3	-	1	772	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	131					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438																																						ENST00000392845.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(391-393)gCg>gTg		solute carrier family 33 (acetyl-CoA transporter), member 1							62.0	67.0	65.0					3																	155571395		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571395G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.392C>T	3.37:g.155571395G>A	ENSP00000376587:p.Ala131Val					SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V	p.A131V	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	772	-			131					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.392C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283162	0.80803	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80566	-1.39;-1.39	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);	0.111009	0.64402	D	0.000006	T	0.78966	0.4367	L	0.55213	1.73	0.53688	D	0.999976	P	0.38020	0.615	B	0.36186	0.219	T	0.79636	-0.1721	10	0.49607	T	0.09	-12.5777	19.6435	0.95767	0.0:0.0:1.0:0.0	.	131	O00400	ACATN_HUMAN	V	131	ENSP00000376587:A131V;ENSP00000352456:A131V	ENSP00000352456:A131V	A	-	2	0	SLC33A1	157054089	1.000000	0.71417	0.351000	0.25721	0.847000	0.48162	9.529000	0.98049	2.712000	0.92718	0.650000	0.86243	GCG		0.438	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		3	43	0	0	0	0.115264	0	3	43				
UNC45B	146862	broad.mit.edu	37	17	33475300	33475300	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:33475300G>A	ENST00000268876.5	+	2	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	UNC45B_ENST00000394570.2_Silent_p.A6A|UNC45B_ENST00000378449.1_Silent_p.A6A|UNC45B_ENST00000591048.1_Silent_p.A6A|UNC45B_ENST00000433649.1_Silent_p.A6A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	6					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGAAGCGGTACAGCTGA	0.612																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(16-18)gcG>gcA		unc-45 homolog B (C. elegans)							67.0	62.0	64.0					17																	33475300		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33475300G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.18G>A	17.37:g.33475300G>A						UNC45B_ENST00000591048.1_Silent_p.A6A|UNC45B_ENST00000394570.2_Silent_p.A6A|UNC45B_ENST00000433649.1_Silent_p.A6A|UNC45B_ENST00000378449.1_Silent_p.A6A	p.A6A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			2	115	+		Ovarian(249;0.17)	6					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.18G>A	CCDS11292.1																																																																																				0.612	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		15	32	0	0	0	0.500413	0	15	32				
CR2	1380	broad.mit.edu	37	1	207648381	207648381	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:207648381C>T	ENST00000367058.3	+	13	2548	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	CR2_ENST00000458541.2_Missense_Mutation_p.R760C|CR2_ENST00000367057.3_Missense_Mutation_p.R846C|CR2_ENST00000367059.3_Missense_Mutation_p.R787C	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	787	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.			PPVTR -> L (in Ref. 3; AAA35784). {ECO:0000305}.	B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.R846S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCTGTGACTCGCTGCCCTAA	0.463																																						ENST00000367057.3																			1	Substitution - Missense(1)	p.R846S(1)	lung(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2536-2538)Cgc>Tgc		complement component (3d/Epstein Barr virus) receptor 2							145.0	137.0	140.0					1																	207648381		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648381C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2359C>T	1.37:g.207648381C>T	ENSP00000356025:p.Arg787Cys					CR2_ENST00000367059.3_Missense_Mutation_p.R787C|CR2_ENST00000367058.3_Missense_Mutation_p.R787C|CR2_ENST00000458541.2_Missense_Mutation_p.R760C	p.R846C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			14	2725	+			911					C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2536C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	2.706	-0.269774	0.05716	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.7	1.78	0.24846	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.64494	0.2603	L	0.38733	1.17	0.09310	N	1	D;D;D	0.69078	0.966;0.995;0.997	B;B;P	0.46049	0.306;0.288;0.502	T	0.53099	-0.8486	9	0.37606	T	0.19	.	6.753	0.23497	0.1467:0.6791:0.0:0.1742	.	787;787;846	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	C	787;846;787;760	ENSP00000356025:R787C;ENSP00000356024:R846C;ENSP00000356026:R787C;ENSP00000404222:R760C	ENSP00000356024:R846C	R	+	1	0	CR2	205715004	0.009000	0.17119	0.014000	0.15608	0.001000	0.01503	0.457000	0.21875	0.032000	0.15435	-1.966000	0.00469	CGC		0.463	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		28	78	0	0	0	0.706142	0	28	78				
OR5AN1	390195	broad.mit.edu	37	11	59132638	59132638	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr11:59132638C>A	ENST00000313940.2	+	1	754	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAAGGCAGGTCCAAGGCATTC	0.423																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(706-708)tCc>tAc		olfactory receptor, family 5, subfamily AN, member 1							221.0	204.0	210.0					11																	59132638		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132638C>A	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.707C>A	11.37:g.59132638C>A	ENSP00000320302:p.Ser236Tyr						p.S236Y	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	754	+			236					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.707C>A	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	C	3.318	-0.139379	0.06669	.	.	ENSG00000176495	ENST00000313940	T	0.00158	8.65	4.51	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.130125	0.35772	N	0.002999	T	0.00109	0.0003	N	0.03608	-0.345	0.09310	N	0.999992	D	0.61080	0.989	D	0.67382	0.951	T	0.51188	-0.8737	10	0.12430	T	0.62	-20.5544	1.5965	0.02665	0.1575:0.3525:0.306:0.1839	.	236	Q8NGI8	O5AN1_HUMAN	Y	236	ENSP00000320302:S236Y	ENSP00000320302:S236Y	S	+	2	0	OR5AN1	58889214	0.000000	0.05858	0.982000	0.44146	0.998000	0.95712	-1.667000	0.01961	0.576000	0.29452	0.655000	0.94253	TCC		0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		9	187	1	0	0.000673444	0.361761	0.000750409	9	187				
CEP104	9731	broad.mit.edu	37	1	3740070	3740070	+	Silent	SNP	G	G	A	rs189791331		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:3740070G>A	ENST00000378230.3	-	19	2745	c.2421C>T	c.(2419-2421)gaC>gaT	p.D807D		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	807						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCAAACCCGTCTTTTTTGT	0.493																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2419-2421)gaC>gaT		centrosomal protein 104kDa							180.0	160.0	167.0					1																	3740070		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3740070G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2421C>T	1.37:g.3740070G>A							p.D807D	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			19	2745	-			807					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.2421C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267072	0.01433	.	.	ENSG00000116198	ENST00000438539	.	.	.	5.68	-4.62	0.03370	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	T	0.37663	-0.9696	4	.	.	.	.	9.2701	0.37666	0.5851:0.1068:0.3081:0.0	.	.	.	.	M	104	.	.	T	-	2	0	CEP104	3729930	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.628000	0.05515	-0.709000	0.05008	-0.140000	0.14226	ACG		0.493	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		32	57	0	0	0	0.740014	0	32	57				
IL22RA1	58985	broad.mit.edu	37	1	24447958	24447958	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:24447958G>A	ENST00000270800.1	-	7	1100	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	354					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGGCAGCGTTTGGGGCAT	0.607																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1060-1062)aaC>aaT		interleukin 22 receptor, alpha 1							99.0	105.0	103.0					1																	24447958		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24447958G>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1062C>T	1.37:g.24447958G>A							p.N354N	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	1100	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	354					A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.1062C>T	CCDS247.1																																																																																				0.607	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			47	66	0	0	0	0.870114	0	47	66				
MYH2	4620	broad.mit.edu	37	17	10432154	10432154	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:10432154C>G	ENST00000245503.5	-	27	3981	c.3597G>C	c.(3595-3597)agG>agC	p.R1199S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199S|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1199					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGCTTCTTCCTCAGGGTGG	0.552																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3595-3597)agG>agC		myosin, heavy chain 2, skeletal muscle, adult							98.0	96.0	97.0					17																	10432154		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432154C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3597G>C	17.37:g.10432154C>G	ENSP00000245503:p.Arg1199Ser					MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199S|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R1199S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3981	-			1199					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3597G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886852	0.51908	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84223	-1.82;-1.82	5.18	1.93	0.25924	Myosin tail (1);	0.000000	0.37348	U	0.002129	D	0.93792	0.8015	H	0.96604	3.85	0.43947	D	0.996614	D	0.89917	1.0	D	0.91635	0.999	D	0.93144	0.6544	10	0.87932	D	0	.	9.1627	0.37032	0.0:0.4768:0.383:0.1401	.	1199	Q9UKX2	MYH2_HUMAN	S	1199	ENSP00000245503:R1199S;ENSP00000380367:R1199S	ENSP00000245503:R1199S	R	-	3	2	MYH2	10372879	0.042000	0.20092	1.000000	0.80357	0.943000	0.58893	-0.727000	0.04931	0.765000	0.33221	0.655000	0.94253	AGG		0.552	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	88	0	0	0	0.184627	0	5	88				
HSPA1L	3305	broad.mit.edu	37	6	31778479	31778479	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:31778479G>T	ENST00000375654.4	-	2	1460	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T424N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	424				T -> P (in Ref. 1; AAA63228). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCTGCTTGGTGGGGATGGT	0.602																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1270-1272)aCc>aAc		heat shock 70kDa protein 1-like							112.0	110.0	111.0					6																	31778479		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778479G>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1271C>A	6.37:g.31778479G>T	ENSP00000364805:p.Thr424Asn					HSPA1L_ENST00000417199.3_Missense_Mutation_p.T424N	p.T424N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1460	-			424	T -> P (in Ref. 1; AAA63228).				A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1271C>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021842	0.35701	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.04917	3.53;3.53	5.2	5.2	0.72013	.	0.000000	0.35772	N	0.002993	T	0.25494	0.0620	H	0.95470	3.675	0.53005	D	0.999963	D	0.76494	0.999	D	0.91635	0.999	T	0.12091	-1.0561	10	0.87932	D	0	-19.2255	9.6113	0.39665	0.0923:0.0:0.9077:0.0	.	424	P34931	HS71L_HUMAN	N	424;424;369	ENSP00000364805:T424N;ENSP00000387691:T424N	ENSP00000364804:T369N	T	-	2	0	HSPA1L	31886458	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.859000	0.86982	2.704000	0.92352	0.585000	0.79938	ACC		0.602	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			15	116	1	0	2.23348e-06	0.500413	2.63957e-06	15	116				
JAG1	182	broad.mit.edu	37	20	10622192	10622192	+	Silent	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:10622192C>T	ENST00000254958.5	-	23	3347	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	JAG1_ENST00000423891.2_Silent_p.V785V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	944					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTTGTCTTCACCGGCTGGA	0.537									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2830-2832)gtG>gtA		jagged 1							113.0	112.0	112.0					20																	10622192		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10622192C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2832G>A	20.37:g.10622192C>T						JAG1_ENST00000423891.2_Silent_p.V785V	p.V944V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			23	3347	-			944					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2832G>A	CCDS13112.1																																																																																				0.537	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		5	160	0	0	0	0.217242	0	5	160				
XAB2	56949	broad.mit.edu	37	19	7686177	7686177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:7686177C>T	ENST00000358368.4	-	13	1661	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	XAB2_ENST00000534844.1_Missense_Mutation_p.E539K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	542					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGCCGCGCTCGTACGCCTGT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1624-1626)Gag>Aag	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							59.0	57.0	58.0					19																	7686177		2202	4300	6502	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7686177C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1624G>A	19.37:g.7686177C>T	ENSP00000351137:p.Glu542Lys					XAB2_ENST00000534844.1_Missense_Mutation_p.E539K	p.E542K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			13	1661	-			542					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1624G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912994	0.92178	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.04119	3.7;3.7	4.27	4.27	0.50696	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	H	0.95816	3.725	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	T	0.48269	-0.9050	10	0.87932	D	0	-19.1483	15.6255	0.76851	0.0:1.0:0.0:0.0	.	542	Q9HCS7	SYF1_HUMAN	K	542;539	ENSP00000351137:E542K;ENSP00000438225:E539K	ENSP00000351137:E542K	E	-	1	0	XAB2	7592177	1.000000	0.71417	0.975000	0.42487	0.627000	0.37826	7.321000	0.79088	2.205000	0.71048	0.313000	0.20887	GAG		0.607	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		11	35	0	0	0	0.387290	0	11	35				
PIH1D1	55011	broad.mit.edu	37	19	49954795	49954795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:49954795C>A	ENST00000262265.5	-	1	272	c.37G>T	c.(37-39)Gag>Tag	p.E13*	ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E13*|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	13					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCCGCCTCGCTTAGCCCC	0.607																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(37-39)Gag>Tag		PIH1 domain containing 1							91.0	79.0	83.0					19																	49954795		2203	4300	6503	SO:0001587	stop_gained	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954795C>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.37G>T	19.37:g.49954795C>A	ENSP00000262265:p.Glu13*					PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E13*	p.E13*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	1	272	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	13					B4DGN7|B4E2X7|Q9BVL0	Nonsense_Mutation	SNP	ENST00000262265.5	37	c.37G>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	c	34	5.309442	0.95629	.	.	ENSG00000104872	ENST00000262265	.	.	.	4.72	3.68	0.42216	.	1.655490	0.02783	N	0.121187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-10.9354	9.0033	0.36094	0.0:0.8989:0.0:0.1011	.	.	.	.	X	13	.	ENSP00000262265:E13X	E	-	1	0	PIH1D1	54646607	0.957000	0.32711	0.779000	0.31741	0.109000	0.19521	3.451000	0.52964	1.350000	0.45770	-0.265000	0.10407	GAG		0.607	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		7	34	1	0	0.00400662	0.500413	0.00434051	7	34				
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr21:10944697delA	ENST00000361285.4	-	11	866	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000298232.7_Frame_Shift_Del_p.F161fs|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(481-483)ttfs		transmembrane phosphatase with tensin homology							157.0	168.0	164.0					21																	10944697		2203	4300	6503	SO:0001589	frameshift_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944697delA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.537delT	21.37:g.10944697delA	ENSP00000355208:p.Phe179fs					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs	p.F161fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	850	-			179					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Del	DEL	ENST00000361285.4	37	c.483delT	CCDS13560.2																																																																																				0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			10	302						10	302	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	4						4	4	---	---	---	---
