#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
TP53	7157	broad.mit.edu	37	17	7579518	7579519	+	Frame_Shift_Ins	INS	-	-	TT	rs574255227	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			-	TT	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:7579518_7579519insTT	ENST00000269305.4	-	4	357_358	c.168_169insAA	c.(166-171)gaagacfs	p.D57fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs	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	57	Interaction with HRMT1L2.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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)	GGACCTGGGTCTTCAGTGAACC	0.599		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)	ENST00000269305.4	1.000000	0.980000	1.000000	0.990000	0.990000	0.999314	0.990000	1.000000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		18	Whole gene deletion(8)|Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - coding silent(1)|Deletion - In frame(1)	p.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)	liver(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)|breast(1)|prostate(1)|pancreas(1)	24185						c.(166-171)gaagacfs	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)																																			SO:0001589	frameshift_variant	7157	0	0		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;	g.chr17:7579518_7579519insTT	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.167_168dupAA	chr17.hg19:g.7579519_7579520dupTT	ENSP00000269305:p.Asp57fs	1	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_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs	p.D57fs	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	0	2	2	1.766506	P04637	P53_HUMAN		4	357_358	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	Frame_Shift_Ins	INS	ENST00000269305.4	0	1	hg19	c.168_169insAA	CCDS11118.1	1																																																																																								0.510000		TCGA-IB-7886-01A-11D-2154-08	0.599	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0	0	0	0	220	0	220	221	1	2.620000	-20.000000	1	0.510000	NM_000546		0	429	450	0	1132	1128	0	0	1	0	1	0	0	220	642	0	1.000000	9.999797e-01	1	0	225	43	587	429	1132
SMAD4	4089	broad.mit.edu	37	18	48593481	48593482	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:48593481_48593482insT	ENST00000342988.3	+	10	1770_1771	c.1232_1233insT	c.(1231-1236)agttacfs	p.Y412fs	SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.Y316fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	412	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTTGTACAGAGTTACTACTTAG	0.426																																						ENST00000342988.3	0.770000	0.540000	0.720000	0.590000	0.650000	0.660714	0.650000	0.660000																										38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454						c.(1231-1236)agttacfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089	0	0					g.chr18:48593481_48593482insT	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1234dupT	chr18.hg19:g.48593483_48593483dupT	ENSP00000341551:p.Tyr412fs	1					SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.Y316fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs	p.Y412fs	NM_005359.5	NP_005350.1	0	1	1	1.341805	Q13485	SMAD4_HUMAN		10	1770_1771	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Frame_Shift_Ins	INS	ENST00000342988.3	0	1	hg19	c.1232_1233insT	CCDS11950.1	0																																																																																								0.351165		TCGA-IB-7886-01A-11D-2154-08	0.426	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1		2	2	2	0	0	0	0	57	0	57	57	1	2.620000	-20.000000	1	0.510000	NM_005359		0	92	94	0	321	320	0	0	1	0	1	0	0	57	1131	0	1.000000	9.983094e-01	1	0	162	36	583	92	321
SORCS3	22986	broad.mit.edu	37	10	106918737	106918737	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:106918737C>A	ENST00000369701.3	+	11	1944	c.1717C>A	c.(1717-1719)Ctt>Att	p.L573I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	573					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCCCAGGACTTGTGGTGGC	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3	1.000000	0.750000	1.000000	0.850000	0.970000	0.941185	0.970000	1.000000																										0				131						c.(1717-1719)Ctt>Att		sortilin-related VPS10 domain containing receptor 3							87.0	79.0	82.0					10																	106918737		2203	4300	6503	SO:0001583	missense	22986	0	0					g.chr10:106918737C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1717C>A	chr10.hg19:g.106918737C>A	ENSP00000358715:p.Leu573Ile	1						p.L573I	NM_014978.1	NP_055793.1	1	3	4	2.240689	Q9UPU3	SORC3_HUMAN		11	1944	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	1	1	hg19	c.1717C>A	CCDS7558.1	1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415625	0.25552	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.57273	0.41;0.41	5.77	3.92	0.45320	5.77	3.92	0.45320	VPS10 (1);	0.125004	0.56097	D	0.000037	T	0.30479	0.0766	N	0.10664	0.02	0.45216	D	0.998226	B	0.16166	0.016	B	0.18263	0.021	T	0.05402	-1.0887	9	.	.	.	.	12.4007	0.55412	0.0:0.8641:0.0:0.1359	.	573	Q9UPU3	SORC3_HUMAN	I	573;18	ENSP00000358715:L573I;ENSP00000376876:L18I	.	L	+	1	0	0	SORCS3	106908727	106908727	0.820000	0.29190	0.995000	0.50966	0.999000	0.98932	1.484000	0.35508	0.904000	0.36572	0.650000	0.86243	CTT	0.617337		TCGA-IB-7886-01A-11D-2154-08	0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	2.620000	-20.000000	1	0.510000	NM_014978		0	67	67	0	293	288	1		1			0	0	40	0	0	1.000000	0	0	0	0	0	0	67	293
ANXA7	310	broad.mit.edu	37	10	75156930	75156930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:75156930G>A	ENST00000372921.5	-	4	418	c.362C>T	c.(361-363)cCa>cTa	p.P121L	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	121	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ACCAGGTAGTGGAACCTGTGC	0.453																																						ENST00000372921.5	1.000000	0.990000	1.000000	0.990000	0.990000	0.999962	0.990000	1.000000																										0				26						c.(361-363)cCa>cTa		annexin A7							61.0	52.0	55.0					10																	75156930		2203	4300	6503	SO:0001583	missense	310	0	0					g.chr10:75156930G>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.362C>T	chr10.hg19:g.75156930G>A	ENSP00000362012:p.Pro121Leu	1					ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	p.P121L	NM_001156.3	NP_001147.1	1	3	4	2.240689	P20073	ANXA7_HUMAN		4	418	-	Prostate(51;0.0119)		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	1	1	hg19	c.362C>T	CCDS7325.1	1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641575	0.47153	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02606	4.23;4.4	5.48	4.46	0.54185	5.48	4.46	0.54185	.	1.044460	0.07552	N	0.915625	T	0.08582	0.0213	L	0.32530	0.975	0.80722	D	1	D;D;P	0.69078	0.975;0.997;0.935	P;P;P	0.61397	0.575;0.888;0.476	T	0.29305	-1.0016	10	0.49607	T	0.09	.	12.7479	0.57291	0.0:0.0:0.801:0.199	.	48;121;121	B4DWU2;P20073-2;P20073	.;.;ANXA7_HUMAN	L	121	ENSP00000362012:P121L;ENSP00000362010:P121L	ENSP00000362010:P121L	P	-	2	0	0	ANXA7	74826936	74826936	1.000000	0.71417	0.968000	0.41197	0.052000	0.14988	2.523000	0.45580	2.736000	0.93811	0.555000	0.69702	CCA	0.617337		TCGA-IB-7886-01A-11D-2154-08	0.453	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	1	0	1	2	2	2	2	0	0	0	0	17	17	17	17	1	2.620000	-20.000000	1	0.510000	NM_001156		0	40	40	0	88	86	1		1	1		0	0	17	0	0	1.000000	1	0	85	0	330	0	40	88
SLC18A2	6571	broad.mit.edu	37	10	119029974	119029974	+	Splice_Site	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:119029974G>T	ENST00000298472.5	+	15	1583	c.1440G>T	c.(1438-1440)atG>atT	p.M480I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	480					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGAAAAAATGGTAAGAAAAA	0.363																																						ENST00000298472.5	1.000000	0.690000	1.000000	0.780000	0.890000	0.892483	0.890000	1.000000																										0				29						c.(1438-1440)atG>atT		solute carrier family 18 (vesicular monoamine transporter), member 2	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)						82.0	80.0	81.0					10																	119029974		2203	4300	6503	SO:0001630	splice_region_variant	6571	0	0					g.chr10:119029974G>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1440+1G>T	chr10.hg19:g.119029974G>T		1					SLC18A2_ENST00000497497.1_3'UTR	p.M480I	NM_003054.4	NP_003045.2	1	3	4	2.240689	Q05940	VMAT2_HUMAN		15	1583	+		Colorectal(252;0.19)	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Splice_Site	SNP	ENST00000298472.5	1	0	hg19	c.1440G>T	CCDS7599.1	1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150787	0.37923	.	.	ENSG00000165646	ENST00000298472	T	0.03524	3.9	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.041993	0.85682	D	0.000000	T	0.04227	0.0117	N	0.17723	0.515	0.54753	D	0.99998	B	0.02656	0.0	B	0.06405	0.002	T	0.53683	-0.8404	10	0.36615	T	0.2	-29.9914	19.9818	0.97329	0.0:0.0:1.0:0.0	.	480	Q05940	VMAT2_HUMAN	I	480	ENSP00000298472:M480I	ENSP00000298472:M480I	M	+	3	0	0	SLC18A2	119019964	119019964	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.576000	0.60915	2.717000	0.92951	0.462000	0.41574	ATG	0.617337		TCGA-IB-7886-01A-11D-2154-08	0.363	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	0	0	1	2	2	2	2	0	0	0	0	50	50	50	49	1	2.620000	-2.910638	1	0.510000	NM_003054	Missense_Mutation	0	70	70	0	341	338	1		1	0		0	0	50	0	0	1.000000	5.833277e-01	0	0	0	11	0	70	341
SBF2	81846	broad.mit.edu	37	11	9853827	9853827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:9853827C>T	ENST00000256190.8	-	27	3733	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1199	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCCATGGAATCCTCCAGATCG	0.483																																						ENST00000256190.8	1.000000	0.790000	1.000000	0.870000	0.970000	0.950419	0.970000	1.000000																										0				48						c.(3595-3597)gGa>gAa		SET binding factor 2							98.0	93.0	95.0					11																	9853827		2201	4294	6495	SO:0001583	missense	81846	0	0					g.chr11:9853827C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3596G>A	chr11.hg19:g.9853827C>T	ENSP00000256190:p.Gly1199Glu	1						p.G1199E	NM_030962.3	NP_112224.1	0	2	2	1.735826	Q86WG5	MTMRD_HUMAN		27	3733	-			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	1	1	hg19	c.3596G>A	CCDS31427.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.181681|5.181681	0.94885|0.94885	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000530741|ENST00000256190	.|D	.|0.92545	.|-3.06	5.76|5.76	5.76|5.76	0.90799|0.90799	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95787|0.95787	0.8629|0.8629	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.95369|0.95369	0.8462|0.8462	5|10	.|0.66056	.|D	.|0.02	.|.	20.3242|20.3242	0.98691|0.98691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1199	.|Q86WG5	.|MTMRD_HUMAN	N|E	83|1199	.|ENSP00000256190:G1199E	.|ENSP00000256190:G1199E	D|G	-|-	1|2	0|0	0|0	SBF2|SBF2	9810403|9810403	9810403|9810403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.764000|7.764000	0.85297|0.85297	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|GGA	0.510000		TCGA-IB-7886-01A-11D-2154-08	0.483	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	1	0	1	2	2	2	2	0	0	0	0	49	49	49	49	1	2.620000	-20.000000	1	0.510000	NM_030962		0	75	73	0	226	224	1		1	1		0	0	49	1	0	1.000000	9.999894e-01	0	15	0	39	0	75	226
FAT3	120114	broad.mit.edu	37	11	92535012	92535012	+	Missense_Mutation	SNP	G	G	A	rs187454400	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:92535012G>A	ENST00000298047.6	+	9	8850	c.8833G>A	c.(8833-8835)Gtc>Atc	p.V2945I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2945I|FAT3_ENST00000525166.1_Missense_Mutation_p.V2795I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2945	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGGTAGCCGTCCTCAGCAC	0.517										TCGA Ovarian(4;0.039)			G|||	25	0.00499201	0.0	0.0	5008	,	,		21142	0.001		0.007	False		,,,				2504	0.0174					ENST00000298047.6	1.000000	0.690000	0.960000	0.770000	0.860000	0.869292	0.860000	1.000000																										0				85						c.(8833-8835)Gtc>Atc		FAT atypical cadherin 3		G	ILE/VAL	5,3969		0,5,1982	72.0	75.0	74.0		8833	3.7	0.9	11		74	30,8282		0,30,4126	yes	missense	FAT3	NM_001008781.2	29	0,35,6108	AA,AG,GG		0.3609,0.1258,0.2849	benign	2945/4558	92535012	35,12251	1987	4156	6143	SO:0001583	missense	120114	676	120902	60				g.chr11:92535012G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8833G>A	chr11.hg19:g.92535012G>A	ENSP00000298047:p.Val2945Ile	1	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.V2795I|FAT3_ENST00000409404.2_Missense_Mutation_p.V2945I	p.V2945I			1	3	4	2.616551	Q8TDW7	FAT3_HUMAN		9	8850	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	1	0	hg19	c.8833G>A		1	6	0.0027472527472527475	0	0.0	0	0.0	1	0.0017482517482517483	5	0.006596306068601583	G	5.340	0.247997	0.10130	0.001258	0.003609	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.6	3.72	0.42706	5.6	3.72	0.42706	.	.	.	.	.	T	0.01124	0.0037	N	0.17922	0.545	0.80722	D	1	P	0.46578	0.88	B	0.41036	0.346	T	0.73251	-0.4042	9	0.26408	T	0.33	.	11.4271	0.50018	0.0681:0.1263:0.8056:0.0	.	2945	Q8TDW7-3	.	I	2945;2945;2795	ENSP00000298047:V2945I;ENSP00000387040:V2945I;ENSP00000432586:V2795I	ENSP00000298047:V2945I	V	+	1	0	0	FAT3	92174660	92174660	1.000000	0.71417	0.862000	0.33874	0.863000	0.49368	6.724000	0.74747	0.718000	0.32166	0.563000	0.77884	GTC	0.675497		TCGA-IB-7886-01A-11D-2154-08	0.517	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	66	66	66	65	1	2.620000	-5.277283	1	0.510000	NM_001008781		0	79	79	0	461	459	1		1			0	0	66	0	0	1.000000	0	0	0	0	0	0	79	461
NFRKB	4798	broad.mit.edu	37	11	129735831	129735831	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:129735831C>T	ENST00000446488.3	-	24	3682	c.3579G>A	c.(3577-3579)caG>caA	p.Q1193Q	NFRKB_ENST00000524746.1_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000304521.5_Silent_p.Q1193Q	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1193					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCTTCATTGGCTGGCTGATCA	0.498																																						ENST00000446488.3	1.000000	0.610000	0.910000	0.700000	0.800000	0.812023	0.800000	1.000000																										0				32						c.(3577-3579)caG>caA		nuclear factor related to kappaB binding protein							134.0	114.0	121.0					11																	129735831		2201	4297	6498	SO:0001819	synonymous_variant	4798	0	0					g.chr11:129735831C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3579G>A	chr11.hg19:g.129735831C>T		1					NFRKB_ENST00000524746.1_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000304521.5_Silent_p.Q1193Q	p.Q1193Q	NM_001143835.1	NP_001137307.1	1	3	4	2.616551	Q6P4R8	NFRKB_HUMAN		24	3682	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	1	1	hg19	c.3579G>A	CCDS44770.1	0																																																																																								0.675497		TCGA-IB-7886-01A-11D-2154-08	0.498	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	1	0	1	2	2	2	2	0	0	0	0	55	55	55	55	1	2.620000	-20.000000	1	0.510000	NM_006165		0	52	50	0	331	327	1		1	1		0	0	55	0	0	1.000000	9.987667e-01	0	14	0	52	0	52	331
CACNA2D4	93589	broad.mit.edu	37	12	1992157	1992157	+	Missense_Mutation	SNP	G	G	C	rs138567080		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:1992157G>C	ENST00000382722.5	-	13	1723	c.1361C>G	c.(1360-1362)aCg>aGg	p.T454R	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T454R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T454R|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	454	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGAGATCTGCGTGTAGTAGCC	0.642																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5	1.000000	0.330000	0.820000	0.470000	0.630000	0.650395	0.630000	1.000000																										0				39						c.(1360-1362)aCg>aGg		calcium channel, voltage-dependent, alpha 2/delta subunit 4							56.0	59.0	58.0					12																	1992157		2098	4227	6325	SO:0001583	missense	93589	0	0					g.chr12:1992157G>C	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1361C>G	chr12.hg19:g.1992157G>C	ENSP00000372169:p.Thr454Arg	1					CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T454R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T454R	p.T454R	NM_172364.4	NP_758952.4	0	2	2	1.866547	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	13	1723	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	1	0	hg19	c.1361C>G	CCDS44785.1	0	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187345	0.78789	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.14022	2.54	5.43	4.54	0.55810	5.43	4.54	0.55810	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.04440	-1.0951	10	0.52906	T	0.07	.	14.1451	0.65347	0.0721:0.0:0.9279:0.0	.	454	Q7Z3S7	CA2D4_HUMAN	R	390;454;454	ENSP00000372169:T454R	ENSP00000280663:T454R	T	-	2	0	0	CACNA2D4	1862418	1862418	1.000000	0.71417	0.861000	0.33841	0.842000	0.47809	9.476000	0.97823	1.295000	0.44724	0.462000	0.41574	ACG	0.510000		TCGA-IB-7886-01A-11D-2154-08	0.642	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2	1	0	0	2	2	2	2	0	0	0	0	17	17	17	17	1	2.620000	-18.349550	1	0.510000			0	10	10	0	53	52	1		1			0	0	17	0	0	0.997463	0	0	0	0	0	0	10	53
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Tgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	2	121404	38	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	chr12.hg19:g.25398285C>A	ENSP00000256078:p.Gly12Cys	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C	p.G12C	NM_033360.2	NP_203524.1	0	7	7	3.950103	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	97	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.34G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	0	KRAS	25289552	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.783401		TCGA-IB-7886-01A-11D-2154-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	14	14	14	14	1	2.620000	-20.000000	1	0.510000	NM_033360		6175	157	155	1843	66	66	1	1	1	1	1	0	0	14	403	1	1.000000	1	1	46	508	17	207	157	66
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632																																						ENST00000261402.2	1.000000	0.960000	1.000000	0.990000	0.990000	0.998120	0.990000	1.000000																										0				37						c.(1957-1959)gCg>gTg		NUAK family, SNF1-like kinase, 1							87.0	91.0	89.0					12																	106460608		2203	4300	6503	SO:0001583	missense	9891	6	121410	41				g.chr12:106460608G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1958C>T	chr12.hg19:g.106460608G>A	ENSP00000261402:p.Ala653Val	0						p.A653V	NM_014840.2	NP_055655.1	2	2	4	1.828375	O60285	NUAK1_HUMAN		7	3337	-			A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	1	1	hg19	c.1958C>T	CCDS31892.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.203470	0.95033	.	.	ENSG00000074590	ENST00000261402	D	0.82984	-1.67	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000012	D	0.90916	0.7145	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.91082	0.4900	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	653	O60285	NUAK1_HUMAN	V	653	ENSP00000261402:A653V	ENSP00000261402:A653V	A	-	2	0	0	NUAK1	104984738	104984738	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	9.476000	0.97823	2.755000	0.94549	0.655000	0.94253	GCG	0.538259		TCGA-IB-7886-01A-11D-2154-08	0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	1	0	1	2	2	2	2	0	0	0	0	142	142	142	140	1	2.620000	-20.000000	1	0.510000	NM_014840		0	187	182	0	521	509	1		1	1		0	0	142	0	0	1.000000	9.999990e-01	0	2	0	55	0	187	521
SUGT1	10910	broad.mit.edu	37	13	53254258	53254258	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:53254258G>C	ENST00000343788.6	+	13	1046	c.964G>C	c.(964-966)Gat>Cat	p.D322H	SUGT1_ENST00000310528.8_Missense_Mutation_p.D290H|SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	322	SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGATGGTTCTGATGAAGTGAA	0.313																																						ENST00000343788.6	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				8						c.(964-966)Gat>Cat		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							98.0	105.0	103.0					13																	53254258		2203	4300	6503	SO:0001583	missense	10910	0	0					g.chr13:53254258G>C	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.964G>C	chr13.hg19:g.53254258G>C	ENSP00000367208:p.Asp322His	1					SUGT1_ENST00000310528.8_Missense_Mutation_p.D290H|SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H	p.D322H	NM_001130912.1	NP_001124384.1	0	2	2	1.736236	Q9Y2Z0	SUGT1_HUMAN		13	1046	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	1	1	hg19	c.964G>C	CCDS45050.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903552	0.72754	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.31769	1.48;1.53	5.22	4.38	0.52667	5.22	4.38	0.52667	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.998	T	0.72818	-0.4178	10	0.72032	D	0.01	-21.0837	14.094	0.65008	0.0731:0.0:0.9269:0.0	.	234;234;322;290	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	H	322;234;290	ENSP00000367208:D322H;ENSP00000308067:D290H	ENSP00000308067:D290H	D	+	1	0	0	SUGT1	52152259	52152259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	1.329000	0.45376	0.467000	0.42956	GAT	0.510000		TCGA-IB-7886-01A-11D-2154-08	0.313	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2	1	0	1	2	2	2	2	0	0	0	0	117	117	117	116	1	2.620000	-20.000000	1	0.510000			0	262	258	0	252	247	1		1	1		0	0	117	0	0	1.000000	1	0	89	0	49	0	262	252
FOXG1	2290	broad.mit.edu	37	14	29237195	29237195	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:29237195A>G	ENST00000313071.4	+	1	909	c.710A>G	c.(709-711)aAg>aGg	p.K237R	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.K237R|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	237				K -> M (in Ref. 5; AAH50072). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCTCAACAAGTGCTTCGTG	0.587																																						ENST00000313071.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				43						c.(709-711)aAg>aGg		forkhead box G1							48.0	48.0	48.0					14																	29237195		2203	4300	6503	SO:0001583	missense	2290	0	0					g.chr14:29237195A>G		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.710A>G	chr14.hg19:g.29237195A>G	ENSP00000339004:p.Lys237Arg	1					FOXG1_ENST00000382535.3_Missense_Mutation_p.K237R|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	p.K237R	NM_005249.4	NP_005240.3	1	2	3	2.154278	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	1	909	+			A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	1	1	hg19	c.710A>G	CCDS9636.1	1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561743	0.86335	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.96073	-3.9;-3.9	4.01	4.01	0.46588	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.96664	0.8911	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96908	0.9665	10	0.87932	D	0	.	12.6221	0.56610	1.0:0.0:0.0:0.0	.	237	P55316	FOXG1_HUMAN	R	237	ENSP00000371975:K237R;ENSP00000339004:K237R	ENSP00000339004:K237R	K	+	2	0	0	FOXG1	28306946	28306946	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.184000	0.94893	1.446000	0.47643	0.254000	0.18369	AAG	0.607969		TCGA-IB-7886-01A-11D-2154-08	0.587	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	1	0	1	2	2	2	2	0	0	0	0	54	54	54	48	1	2.620000	-20.000000	1	0.510000			0	104	83	0	162	146	1		1			0	0	54	0	0	1.000000	0	0	0	0	0	0	104	162
PLEKHH1	57475	broad.mit.edu	37	14	68044761	68044761	+	Missense_Mutation	SNP	G	G	A	rs201045091		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:68044761G>A	ENST00000329153.5	+	19	2728	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	866	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCATCAACGTGCCGGTGGA	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19378	0.0		0.0	False		,,,				2504	0.0					ENST00000329153.5	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				19						c.(2596-2598)Gtg>Atg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							77.0	79.0	78.0					14																	68044761		2167	4273	6440	SO:0001583	missense	57475	1	121252	35				g.chr14:68044761G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2596G>A	chr14.hg19:g.68044761G>A	ENSP00000330278:p.Val866Met	1					PLEKHH1_ENST00000417684.2_5'Flank	p.V866M	NM_020715.2	NP_065766.1	1	2	3	2.154278	Q9ULM0	PKHH1_HUMAN		19	2728	+			A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	1	1	hg19	c.2596G>A	CCDS45128.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.8	4.949389	0.92660	.	.	ENSG00000054690	ENST00000329153	T	0.73789	-0.78	5.14	5.14	0.70334	5.14	5.14	0.70334	MyTH4 domain (2);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	D	0.86972	0.2098	10	0.72032	D	0.01	.	18.7908	0.91973	0.0:0.0:1.0:0.0	.	866	Q9ULM0	PKHH1_HUMAN	M	866	ENSP00000330278:V866M	ENSP00000330278:V866M	V	+	1	0	0	PLEKHH1	67114514	67114514	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.257000	0.95545	2.665000	0.90641	0.655000	0.94253	GTG	0.607969		TCGA-IB-7886-01A-11D-2154-08	0.597	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	1	0	1	2	2	2	2	0	0	0	0	96	96	96	94	1	2.620000	-20.000000	1	0.510000	XM_031054		0	182	178	0	326	323	1		1	1		0	0	96	0	0	1.000000	9.999569e-01	0	16	0	14	0	182	326
FLRT2	23768	broad.mit.edu	37	14	86089365	86089365	+	Missense_Mutation	SNP	G	G	A	rs149005998		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:86089365G>A	ENST00000330753.4	+	2	2274	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	503	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTACCGCGCGGTAGAAGA	0.537																																						ENST00000330753.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				73						c.(1507-1509)Gcg>Acg		fibronectin leucine rich transmembrane protein 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	131.0	119.0	123.0		1507	5.1	0.3	14	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	FLRT2	NM_013231.4	58	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	503/661	86089365	4,13002	2203	4300	6503	SO:0001583	missense	23768	11	121412	46				g.chr14:86089365G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1507G>A	chr14.hg19:g.86089365G>A	ENSP00000332879:p.Ala503Thr	1					FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T	p.A503T	NM_013231.4	NP_037363.1	1	2	3	2.154278	O43155	FLRT2_HUMAN		2	2274	+			A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	1	1	hg19	c.1507G>A	CCDS9877.1	1	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.304874	0.05495	4.54E-4	2.33E-4	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55930	0.49;0.49	6.17	5.07	0.68467	6.17	5.07	0.68467	Fibronectin, type III (1);	0.164767	0.56097	N	0.000039	T	0.39091	0.1065	L	0.38175	1.15	0.31348	N	0.682867	B	0.09022	0.002	B	0.04013	0.001	T	0.39375	-0.9617	10	0.13853	T	0.58	-6.2272	10.3338	0.43837	0.1995:0.0:0.8005:0.0	.	503	O43155	FLRT2_HUMAN	T	503;503;156	ENSP00000332879:A503T;ENSP00000451050:A503T	ENSP00000332879:A503T	A	+	1	0	0	FLRT2	85159118	85159118	1.000000	0.71417	0.302000	0.25058	0.145000	0.21501	4.224000	0.58593	1.277000	0.44412	0.655000	0.94253	GCG	0.607969		TCGA-IB-7886-01A-11D-2154-08	0.537	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1	2	2	2	2	0	0	0	0	126	126	126	123	1	2.620000	-20.000000	1	0.510000			0	311	307	0	483	480	1		1	0		0	0	126	0	0	1.000000	9.999977e-01	0	0	0	33	0	311	483
BCL11B	64919	broad.mit.edu	37	14	99640770	99640770	+	Silent	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:99640770G>A	ENST00000357195.3	-	4	2412	c.2403C>T	c.(2401-2403)tgC>tgT	p.C801C	BCL11B_ENST00000443726.2_Silent_p.C607C|BCL11B_ENST00000345514.2_Silent_p.C730C	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	801					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACCTTGCCGCAGTACTCGC	0.721			T	TLX3	T-ALL																																	ENST00000357195.3	1.000000	0.710000	1.000000	0.850000	0.990000	0.947854	0.990000	1.000000				Dom	yes			Dom	yes		14	14q32.1	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)				L	L	TLX3		T-ALL		0				34						c.(2401-2403)tgC>tgT		B-cell CLL/lymphoma 11B (zinc finger protein)							30.0	26.0	27.0					14																	99640770		2202	4298	6500	SO:0001819	synonymous_variant	64919	2	121218	36				g.chr14:99640770G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2403C>T	chr14.hg19:g.99640770G>A		1					BCL11B_ENST00000443726.2_Silent_p.C607C|BCL11B_ENST00000345514.2_Silent_p.C730C	p.C801C	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	1	2	3	2.154278	Q9C0K0	BC11B_HUMAN		4	2412	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	Q9H162	Silent	SNP	ENST00000357195.3	1	1	hg19	c.2403C>T	CCDS9950.1	1																																																																																								0.607969		TCGA-IB-7886-01A-11D-2154-08	0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	1	2	2	2	2	0	0	0	0	21	21	21	20	1	2.620000	-20.000000	1	0.510000	NM_138576		0	27	27	0	103	101	0		1			0	0	21	0	0	1.000000	0	0	0	0	0	0	27	103
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	rs369334993		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453																																						ENST00000354181.3	0.470000	0.180000	0.390000	0.240000	0.310000	0.323731	0.310000	0.300000																										0				45						c.(955-957)cGt>cAt		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142.0	124.0	130.0		779,779,929,911,803,956	5.1	1.0	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense	9990	0	0					g.chr15:34546711C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.956G>A	chr15.hg19:g.34546711C>T	ENSP00000346112:p.Arg319His	1					SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H	p.R319H			1	2	3	2.187446	Q9UHW9	S12A6_HUMAN		9	1448	-		all_lung(180;2.78e-08)	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	1	1	hg19	c.956G>A	CCDS58352.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	0	SLC12A6	32334003	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1	2	2	2	2	0	0	0	0	38	38	38	38	1	2.620000	-19.831370	1	0.510000	NM_005135		0	17	17	0	254	253	0		1	0		0	0	38	0	0	0.999969	6.913124e-01	0	0	0	37	0	17	254
GPRC5B	51704	broad.mit.edu	37	16	19883256	19883256	+	Silent	SNP	C	C	T	rs199673129		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:19883256C>T	ENST00000300571.2	-	2	1103	c.912G>A	c.(910-912)acG>acA	p.T304T	GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T|GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000569847.1_Silent_p.T304T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	304					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTAGTTGGGCGTGTTCTCCT	0.637																																						ENST00000300571.2	1.000000	0.660000	0.940000	0.740000	0.830000	0.842076	0.830000	1.000000																										0				25						c.(910-912)acG>acA		G protein-coupled receptor, class C, group 5, member B							83.0	77.0	79.0					16																	19883256		2197	4300	6497	SO:0001819	synonymous_variant	51704	2	121412	39				g.chr16:19883256C>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.912G>A	chr16.hg19:g.19883256C>T		1					GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000569847.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T	p.T304T	NM_016235.1	NP_057319.1	1	2	3	2.142268	Q9NZH0	GPC5B_HUMAN		2	1103	-			D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	1	1	hg19	c.912G>A	CCDS10581.1	0																																																																																								0.607969		TCGA-IB-7886-01A-11D-2154-08	0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	1	2	2	2	2	0	0	0	0	78	78	78	77	1	2.620000	-20.000000	1	0.510000			0	66	66	0	321	319	1		1	1	0	0	0	78	0	0	1.000000	9.863036e-01	0	2	0	33	1	66	321
SEZ6L2	26470	broad.mit.edu	37	16	29908310	29908310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:29908310G>T	ENST00000308713.5	-	3	871	c.344C>A	c.(343-345)gCa>gAa	p.A115E	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	115	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGGGCCTGCCCCCCTGAC	0.736																																						ENST00000308713.5	1.000000	0.130000	0.660000	0.240000	0.400000	0.456623	0.400000	0.360000																										0				39						c.(343-345)gCa>gAa		seizure related 6 homolog (mouse)-like 2							7.0	10.0	9.0					16																	29908310		2183	4256	6439	SO:0001583	missense	26470	0	0					g.chr16:29908310G>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.344C>A	chr16.hg19:g.29908310G>T	ENSP00000312550:p.Ala115Glu	1					SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000562159.1_5'UTR	p.A115E	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	1	2	3	2.115115	Q6UXD5	SE6L2_HUMAN		3	871	-			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	0	1	hg19	c.344C>A	CCDS10659.1	0	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546087	0.65198	.	.	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.44083	0.93;0.93;0.93	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.123614	0.36374	N	0.002633	T	0.26231	0.0640	N	0.19112	0.55	0.31331	N	0.684786	B;B;B;B	0.33238	0.403;0.281;0.281;0.281	B;B;B;B	0.30855	0.121;0.057;0.104;0.057	T	0.24154	-1.0168	9	.	.	.	.	11.3559	0.49615	0.0844:0.0:0.9156:0.0	.	71;115;115;115	F5H293;B7Z5L4;Q9BW82;Q6UXD5	.;.;.;SE6L2_HUMAN	E	115;115;71	ENSP00000312550:A115E;ENSP00000319215:A115E;ENSP00000439412:A71E	.	A	-	2	0	0	SEZ6L2	29815811	29815811	0.445000	0.25657	1.000000	0.80357	0.965000	0.64279	3.770000	0.55310	2.523000	0.85059	0.561000	0.74099	GCA	0.603110		TCGA-IB-7886-01A-11D-2154-08	0.736	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	1	0	1	2	2	2	2	0	0	0	0	11	11	11	10	1	2.620000	-9.257908	1	0.510000	NM_012410		0	4	4	0	51	46	0		1	0		0	0	11	0	0	0.869008	1.907060e-01	0	0	0	9	0	4	51
FUS	2521	broad.mit.edu	37	16	31200485	31200485	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:31200485C>T	ENST00000254108.7	+	9	979	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	FUS_ENST00000568685.1_Silent_p.L293L|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.L291L	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	292	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTGCAAGGCCTGGGTGAGAA	0.388			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7	1.000000	0.830000	1.000000	0.880000	0.930000	0.939873	0.930000	1.000000				Dom	yes			Dom	yes		16	16p11.2	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""				"""M, L"""	M, L	DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1		liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				22						c.(874-876)Ctg>Ttg		FUS RNA binding protein							287.0	260.0	269.0					16																	31200485		2197	4300	6497	SO:0001819	synonymous_variant	2521	0	0					g.chr16:31200485C>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.874C>T	chr16.hg19:g.31200485C>T		1					FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.L291L|FUS_ENST00000568685.1_Silent_p.L293L	p.L292L	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	1	2	3	2.115115	P35637	FUS_HUMAN		9	979	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	Q9H4A8	Silent	SNP	ENST00000254108.7	1	1	hg19	c.874C>T	CCDS10707.1	1																																																																																								0.603110		TCGA-IB-7886-01A-11D-2154-08	0.388	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	1	0	1	2	2	2	2	0	0	0	0	193	193	193	191	1	2.620000	-20.000000	1	0.510000	NM_004960		0	262	259	0	1091	1083	0		1	1		0	0	193	0	0	1.000000	1	0	240	0	1009	0	262	1091
CDH11	1009	broad.mit.edu	37	16	64984898	64984898	+	Missense_Mutation	SNP	G	G	A	rs147033764		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:64984898G>A	ENST00000268603.4	-	12	2281	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	CDH11_ENST00000566827.1_Missense_Mutation_p.R430W|CDH11_ENST00000394156.3_Missense_Mutation_p.R556W	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCACGCCGGGCGTACACG	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000268603.4	1.000000	0.590000	0.930000	0.690000	0.800000	0.810074	0.800000	1.000000				Dom	yes			Dom	yes		16	16q22.1	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""				M	M	USP6		aneurysmal bone cysts		0				88						c.(1666-1668)Cgg>Tgg		cadherin 11, type 2, OB-cadherin (osteoblast)							53.0	52.0	52.0					16																	64984898		2203	4300	6503	SO:0001583	missense	1009	0	0					g.chr16:64984898G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1666C>T	chr16.hg19:g.64984898G>A	ENSP00000268603:p.Arg556Trp	1	TSP Lung(24;0.17)				CDH11_ENST00000394156.3_Missense_Mutation_p.R556W|CDH11_ENST00000566827.1_Missense_Mutation_p.R430W	p.R556W	NM_001797.2	NP_001788.2	1	2	3	2.132622	P55287	CAD11_HUMAN		12	2281	-		Ovarian(137;0.0973)	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	1	1	hg19	c.1666C>T	CCDS10803.1	0	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319581	0.60524	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61040	2.08;0.14	5.55	4.51	0.55191	5.55	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.421596	0.26193	N	0.025782	T	0.72045	0.3412	M	0.89715	3.055	0.37759	D	0.926242	D;D	0.65815	0.995;0.991	P;P	0.53861	0.736;0.462	T	0.80058	-0.1541	10	0.87932	D	0	.	9.7974	0.40744	0.0:0.1189:0.6897:0.1914	.	556;556	P55287-2;P55287	.;CAD11_HUMAN	W	556;556;539	ENSP00000268603:R556W;ENSP00000377711:R556W	ENSP00000268603:R556W	R	-	1	2	2	CDH11	63542399	63542399	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	1.290000	0.33319	2.594000	0.87642	0.655000	0.94253	CGG	0.607969		TCGA-IB-7886-01A-11D-2154-08	0.592	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1	2	2	2	2	0	0	0	0	31	31	31	30	1	2.620000	-2.753065	1	0.510000	NM_033664		0	40	39	0	205	204	1		1	0		0	0	31	0	0	1.000000	1	0	1	0	422	0	40	205
CYP4F22	126410	broad.mit.edu	37	19	15651359	15651359	+	Missense_Mutation	SNP	G	G	A	rs200005567		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:15651359G>A	ENST00000269703.3	+	8	969	c.770G>A	c.(769-771)cGc>cAc	p.R257H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	257						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTTACTACCGCTCGGCGGAT	0.582																																						ENST00000269703.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				37						c.(769-771)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 22		G	HIS/ARG	0,4406		0,0,2203	75.0	70.0	72.0		770	-6.8	0.0	19		72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP4F22	NM_173483.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	257/532	15651359	1,13005	2203	4300	6503	SO:0001583	missense	126410	4	121412	41				g.chr19:15651359G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.770G>A	chr19.hg19:g.15651359G>A	ENSP00000269703:p.Arg257His	1					CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H	p.R257H	NM_173483.3	NP_775754.2	1	2	3	2.079699	Q6NT55	CP4FN_HUMAN		8	969	+			Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	1	1	hg19	c.770G>A	CCDS12331.1	1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274344	0.23307	0.0	1.16E-4	ENSG00000171954	ENST00000269703	T	0.68765	-0.35	5.39	-6.85	0.01681	5.39	-6.85	0.01681	.	0.385586	0.27406	N	0.019502	T	0.55609	0.1931	L	0.45228	1.405	0.22511	N	0.999039	B	0.09022	0.002	B	0.08055	0.003	T	0.11060	-1.0603	10	0.62326	D	0.03	.	19.8166	0.96571	0.0:0.0:0.1486:0.8514	.	257	Q6NT55	CP4FN_HUMAN	H	257	ENSP00000269703:R257H	ENSP00000269703:R257H	R	+	2	0	0	CYP4F22	15512359	15512359	0.063000	0.20901	0.001000	0.08648	0.004000	0.04260	0.258000	0.18387	-1.590000	0.01623	0.453000	0.30009	CGC	0.599804		TCGA-IB-7886-01A-11D-2154-08	0.582	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	1	0	1	2	2	2	2	0	0	0	0	89	89	89	89	1	2.620000	-20.000000	1	0.510000	NM_173483		0	207	201	0	290	284	1		1			0	0	89	0	0	1.000000	0	0	0	0	0	0	207	290
ZNF99	7652	broad.mit.edu	37	19	22940448	22940448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:22940448G>T	ENST00000596209.1	-	4	2353	c.2263C>A	c.(2263-2265)Cat>Aat	p.H755N	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.H664N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	755					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H664D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGCAGTATGAATTACCTTA	0.353																																						ENST00000596209.1	1.000000	0.540000	0.880000	0.630000	0.730000	0.756034	0.730000	0.720000																										1	Substitution - Missense(1)	p.H664D(1)	lung(1)	124						c.(2263-2265)Cat>Aat		zinc finger protein 99							26.0	27.0	27.0					19																	22940448		1904	4049	5953	SO:0001583	missense	7652	0	0					g.chr19:22940448G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2263C>A	chr19.hg19:g.22940448G>T	ENSP00000472969:p.His755Asn	1					CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.H664N	p.H755N	NM_001080409.2	NP_001073878.2	1	2	3	2.079699	A8MXY4	ZNF99_HUMAN		4	2353	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	M0R335	Missense_Mutation	SNP	ENST00000596209.1	0	1	hg19	c.2263C>A	CCDS59369.1	0	.	.	.	.	.	.	.	.	.	.	g	12.79	2.043291	0.36085	.	.	ENSG00000213973	ENST00000397104	T	0.28895	1.59	0.726	0.726	0.18248	0.726	0.726	0.18248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62109	0.2401	H	0.94542	3.55	0.24997	N	0.991498	D	0.89917	1.0	D	0.97110	1.0	T	0.50608	-0.8808	9	0.87932	D	0	.	8.9692	0.35897	0.0:0.0:1.0:0.0	.	664	A8MXY4	ZNF99_HUMAN	N	664	ENSP00000380293:H664N	ENSP00000380293:H664N	H	-	1	0	0	ZNF99	22732288	22732288	0.998000	0.40836	0.006000	0.13384	0.035000	0.12851	4.228000	0.58619	0.680000	0.31366	0.400000	0.26472	CAT	0.599804		TCGA-IB-7886-01A-11D-2154-08	0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	1	0	1	2	2	2	2	0	0	0	0	48	48	48	54	1	2.620000	-20.000000	1	0.510000	XM_065124		0	47	44	0	266	213	1		1			0	0	48	0	0	1.000000	0	0	0	0	0	0	47	266
ZNF675	171392	broad.mit.edu	37	19	23836431	23836431	+	Missense_Mutation	SNP	C	C	T	rs552345271		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:23836431C>T	ENST00000359788.4	-	4	1472	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	435					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTGAGGATCGGTTAAAAGC	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19112	0.0		0.0	False		,,,				2504	0.001					ENST00000359788.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				27						c.(1303-1305)cGa>cAa		zinc finger protein 675							51.0	55.0	54.0					19																	23836431		2202	4300	6502	SO:0001583	missense	171392	0	0					g.chr19:23836431C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1304G>A	chr19.hg19:g.23836431C>T	ENSP00000352836:p.Arg435Gln	1					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	p.R435Q	NM_138330.2	NP_612203.2	1	2	3	2.079699	Q8TD23	ZN675_HUMAN		4	1472	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	1	0	hg19	c.1304G>A	CCDS32981.1	1	.	.	.	.	.	.	.	.	.	.	.	0.409	-0.914248	0.02415	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.876	-1.75	0.08031	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.12443	0.215	0.09310	N	1	B	0.22909	0.077	B	0.12837	0.008	T	0.46624	-0.9178	9	0.08381	T	0.77	.	5.1337	0.14924	0.0:0.3802:0.0:0.6198	.	435	Q8TD23	ZN675_HUMAN	Q	435	ENSP00000352836:R435Q	ENSP00000352836:R435Q	R	-	2	0	0	ZNF675	23628271	23628271	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-3.295000	0.00523	-0.722000	0.04922	-0.708000	0.03648	CGA	0.599804		TCGA-IB-7886-01A-11D-2154-08	0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	1	0	1	2	2	2	2	0	0	0	0	65	65	65	64	1	2.620000	-19.540570	1	0.510000	NM_138330		0	140	138	0	217	216	1		1	0		0	0	65	0	0	1.000000	9.980627e-01	0	1	0	17	0	140	217
CNTD2	79935	broad.mit.edu	37	19	40729348	40729348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:40729348C>A	ENST00000430325.2	-	4	667	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	207					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						AGCAGCGGGCCGGGGTGGTGC	0.726																																						ENST00000430325.2	1.000000	0.990000	1.000000	0.990000	0.990000	0.999080	0.990000	1.000000																										0				2						c.(619-621)Ggc>Tgc		cyclin N-terminal domain containing 2							5.0	9.0	8.0					19																	40729348		671	1554	2225	SO:0001583	missense	79935	0	0					g.chr19:40729348C>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.619G>T	chr19.hg19:g.40729348C>A	ENSP00000396755:p.Gly207Cys	1					CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C	p.G207C	NM_024877.3	NP_079153.2	2	2	4	2.374902	Q9H8S5	CNTD2_HUMAN		4	667	-			B4DX65	Missense_Mutation	SNP	ENST00000430325.2	0	1	hg19	c.619G>T	CCDS12551.2	1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101787	0.37048	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.30981	1.51;1.52	4.02	4.02	0.46733	4.02	4.02	0.46733	.	.	.	.	.	T	0.40570	0.1122	N	0.24115	0.695	0.26488	N	0.974985	D	0.89917	1.0	D	0.75020	0.985	T	0.22452	-1.0216	9	0.54805	T	0.06	.	13.1598	0.59538	0.0:1.0:0.0:0.0	.	207	B4DX65	.	C	207;101	ENSP00000396755:G207C;ENSP00000425529:G101C	ENSP00000396755:G207C	G	-	1	0	0	CNTD2	45421188	45421188	0.020000	0.18652	0.109000	0.21407	0.116000	0.19942	1.586000	0.36611	2.078000	0.62432	0.561000	0.74099	GGC	0.644257		TCGA-IB-7886-01A-11D-2154-08	0.726	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	0	0	1	2	2	2	2	0	0	0	0	16	16	16	15	1	2.620000	-20.000000	1	0.510000	NM_024877		0	32	31	0	91	87	0		1			0	0	16	0	0	1.000000	0	0	0	0	0	0	32	91
CEACAM3	1084	broad.mit.edu	37	19	42312866	42312866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42312866G>A	ENST00000357396.3	+	3	681	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	147						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATGCCCCAGGCCTTCCTGTG	0.612																																						ENST00000357396.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				19						c.(439-441)gGc>gAc		carcinoembryonic antigen-related cell adhesion molecule 3							102.0	110.0	107.0					19																	42312866		2203	4300	6503	SO:0001583	missense	1084	0	0					g.chr19:42312866G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.440G>A	chr19.hg19:g.42312866G>A	ENSP00000349971:p.Gly147Asp	1					CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR	p.G147D	NM_001815.2	NP_001806.2	2	2	4	2.374902	P40198	CEAM3_HUMAN		3	681	+			G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	1	1	hg19	c.440G>A	CCDS12586.2	1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980901	0.18812	.	.	ENSG00000170956	ENST00000357396;ENST00000221999;ENST00000344550	T;T;T	0.01272	5.12;5.07;5.07	2.21	-1.96	0.07525	2.21	-1.96	0.07525	.	.	.	.	.	T	0.03348	0.0097	M	0.62088	1.915	0.09310	N	1	D;D	0.69078	0.995;0.997	D;D	0.68943	0.961;0.941	T	0.40403	-0.9565	9	0.17369	T	0.5	.	1.0058	0.01487	0.1539:0.2257:0.3909:0.2295	.	147;147	G5E978;P40198	.;CEAM3_HUMAN	D	147	ENSP00000349971:G147D;ENSP00000221999:G147D;ENSP00000341725:G147D	ENSP00000221999:G147D	G	+	2	0	0	CEACAM3	47004706	47004706	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.766000	0.26560	-0.299000	0.08909	0.514000	0.50259	GGC	0.644257		TCGA-IB-7886-01A-11D-2154-08	0.612	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	1	0	1	2	2	2	2	0	0	0	0	162	162	162	159	1	2.620000	-20.000000	1	0.510000	NM_001815		0	409	396	0	817	802	1		1	0		0	0	162	0	0	1.000000	1.114727e-01	0	0	0	2	0	409	817
CIC	23152	broad.mit.edu	37	19	42797190	42797190	+	Silent	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42797190C>A	ENST00000575354.2	+	15	3592	c.3552C>A	c.(3550-3552)atC>atA	p.I1184I	CIC_ENST00000160740.3_Silent_p.I1182I|CIC_ENST00000572681.2_Silent_p.I2091I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1184	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGCCATCGCCAGCATTC	0.662			"""Mis, F, S"""		oligodendroglioma																																	ENST00000575354.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000				Rec	yes			Rec	yes		19	19q13.2	19q13.2	23152	Mis, F, S	capicua homolog				O	O			oligodendroglioma		0				82						c.(3550-3552)atC>atA		capicua transcriptional repressor							20.0	23.0	22.0					19																	42797190		2178	4244	6422	SO:0001819	synonymous_variant	23152	0	0					g.chr19:42797190C>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3552C>A	chr19.hg19:g.42797190C>A		1					CIC_ENST00000160740.3_Silent_p.I1182I|CIC_ENST00000572681.2_Silent_p.I2091I	p.I1184I	NM_015125.3	NP_055940.3	2	2	4	2.374902	Q96RK0	CIC_HUMAN		15	3592	+		Prostate(69;0.00682)	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	1	1	hg19	c.3552C>A	CCDS12601.1	1																																																																																								0.644257		TCGA-IB-7886-01A-11D-2154-08	0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	1	0	1	2	2	2	2	0	0	0	0	37	37	37	36	1	2.620000	-20.000000	1	0.510000			0	72	70	0	166	164	1		1	0		0	0	37	0	0	1.000000	9.884060e-01	0	1	0	18	0	72	166
INSR	3643	broad.mit.edu	37	19	7117089	7117089	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:7117089A>C	ENST00000302850.5	-	22	4269	c.4127T>G	c.(4126-4128)tTg>tGg	p.L1376W	INSR_ENST00000341500.5_Missense_Mutation_p.L1364W	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1376					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGACCGAGGCAAGGTCAGAAT	0.567																																						ENST00000302850.5	1.000000	0.850000	1.000000	0.920000	0.990000	0.973255	0.990000	1.000000																										0				66						c.(4126-4128)tTg>tGg		insulin receptor	"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"						126.0	109.0	115.0					19																	7117089		2203	4300	6503	SO:0001583	missense	3643	0	0					g.chr19:7117089A>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4127T>G	chr19.hg19:g.7117089A>C	ENSP00000303830:p.Leu1376Trp	1					INSR_ENST00000341500.5_Missense_Mutation_p.L1364W	p.L1376W	NM_000208.2	NP_000199.2	1	2	3	2.079699	P06213	INSR_HUMAN		22	4269	-			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	1	1	hg19	c.4127T>G	CCDS12176.1	1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320919	0.60634	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.79940	-1.32;-1.32	4.9	4.9	0.64082	4.9	4.9	0.64082	.	0.205339	0.23828	N	0.044170	D	0.90058	0.6895	M	0.86651	2.83	0.44562	D	0.997526	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.91501	0.5219	10	0.87932	D	0	.	12.5167	0.56036	1.0:0.0:0.0:0.0	.	1364;1376	P06213-2;P06213	.;INSR_HUMAN	W	1376;1364	ENSP00000303830:L1376W;ENSP00000342838:L1364W	ENSP00000303830:L1376W	L	-	2	0	0	INSR	7068089	7068089	1.000000	0.71417	0.947000	0.38551	0.478000	0.33099	6.780000	0.75063	2.057000	0.61298	0.460000	0.39030	TTG	0.599804		TCGA-IB-7886-01A-11D-2154-08	0.567	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1	2	2	2	2	0	0	0	0	109	109	109	107	1	2.620000	-20.000000	1	0.510000			0	149	146	0	569	557	1		1	1		0	0	109	0	0	1.000000	1	0	11	0	80	0	149	569
ALDH16A1	126133	broad.mit.edu	37	19	49971707	49971707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49971707G>T	ENST00000293350.4	+	15	2171	c.2008G>T	c.(2008-2010)Gac>Tac	p.D670Y	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGTGTGTCCGGACGAGTGGCC	0.697																																						ENST00000293350.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				20						c.(2008-2010)Gac>Tac		aldehyde dehydrogenase 16 family, member A1							135.0	143.0	140.0					19																	49971707		2203	4299	6502	SO:0001583	missense	126133	0	0					g.chr19:49971707G>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2008G>T	chr19.hg19:g.49971707G>T	ENSP00000293350:p.Asp670Tyr	1					CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y	p.D670Y	NM_153329.3	NP_699160.2	2	2	4	2.544373	Q8IZ83	A16A1_HUMAN		15	2171	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	1	1	hg19	c.2008G>T	CCDS12766.1	1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324210	0.41197	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.89	4.89	0.63831	4.89	4.89	0.63831	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101073	0.64402	D	0.000004	D	0.83912	0.5357	M	0.68593	2.085	0.35738	D	0.818491	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.959;0.967;0.995	D	0.88296	0.2946	10	0.62326	D	0.03	-6.9053	13.9554	0.64144	0.0:0.0:1.0:0.0	.	507;619;670	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	Y	670;619;507;505	ENSP00000293350:D670Y;ENSP00000410142:D619Y;ENSP00000445088:D507Y;ENSP00000398675:D505Y	ENSP00000293350:D670Y	D	+	1	0	0	ALDH16A1	54663519	54663519	0.965000	0.33210	0.523000	0.27875	0.062000	0.15995	2.375000	0.44283	2.426000	0.82243	0.485000	0.47835	GAC	0.667639		TCGA-IB-7886-01A-11D-2154-08	0.697	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1	2	2	2	2	0	0	0	0	194	194	194	189	1	2.620000	-20.000000	1	0.510000	NM_153329		0	259	257	0	725	716	1		1	0		0	0	194	0	0	1.000000	5.878237e-01	0	1	0	6	0	259	725
PAPPA2	60676	broad.mit.edu	37	1	176759114	176759114	+	Splice_Site	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:176759114G>C	ENST00000367662.3	+	18	6048		c.e18+1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGAAAAGGTAAGGAACAT	0.418																																						ENST00000367662.3	1.000000	0.830000	1.000000	0.900000	0.970000	0.961422	0.970000	1.000000																										0				226						c.e18+1		pappalysin 2							153.0	146.0	148.0					1																	176759114		1932	4136	6068	SO:0001630	splice_region_variant	60676	0	0					g.chr1:176759114G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4884+1G>C	chr1.hg19:g.176759114G>C		1							NM_020318.2	NP_064714.2	1	2	3	2.193395	Q9BXP8	PAPP2_HUMAN		18	6048	+			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	ENST00000367662.3	1	1	hg19		CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156713	0.57259	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6377	0.85063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PAPPA2	175025737	175025737	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	6.533000	0.73829	2.651000	0.90000	0.650000	0.86243	.	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.418	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1	2	2	2	2	0	0	0	0	96	96	96	96	1	2.620000	-20.000000	1	0.510000		Intron	0	129	129	0	517	510	1		1			0	0	96	0	0	1.000000	0	0	0	0	0	0	129	517
SLC30A1	7779	broad.mit.edu	37	1	211751575	211751575	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:211751575T>A	ENST00000367001.4	-	1	509	c.380A>T	c.(379-381)aAc>aTc	p.N127I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	127					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCCCAGCACGTTGACCAGCAG	0.701																																						ENST00000367001.4	1.000000	0.730000	1.000000	0.910000	0.990000	0.968126	0.990000	1.000000																										0				11						c.(379-381)aAc>aTc		solute carrier family 30 (zinc transporter), member 1							16.0	19.0	18.0					1																	211751575		2195	4297	6492	SO:0001583	missense	7779	0	0					g.chr1:211751575T>A	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.380A>T	chr1.hg19:g.211751575T>A	ENSP00000355968:p.Asn127Ile	1						p.N127I	NM_021194.2	NP_067017.2	1	2	3	2.200008	Q9Y6M5	ZNT1_HUMAN		1	509	-			Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	1	1	hg19	c.380A>T	CCDS1499.1	1	.	.	.	.	.	.	.	.	.	.	T	34	5.391452	0.95988	.	.	ENSG00000170385	ENST00000367001	T	0.69685	-0.42	4.13	4.13	0.48395	4.13	4.13	0.48395	.	0.048025	0.85682	D	0.000000	D	0.88043	0.6331	H	0.98646	4.29	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.92163	0.5737	10	0.87932	D	0	-13.1623	13.3232	0.60444	0.0:0.0:0.0:1.0	.	127	Q9Y6M5	ZNT1_HUMAN	I	127	ENSP00000355968:N127I	ENSP00000355968:N127I	N	-	2	0	0	SLC30A1	209818198	209818198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.134000	0.77268	1.742000	0.51746	0.374000	0.22700	AAC	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.701	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2	1	0	1	2	2	2	2	0	0	0	0	15	15	15	13	1	2.620000	-20.000000	1	0.510000			0	20	20	0	68	66	0		1	0		0	0	15	0	0	0.999998	0	0	0	0	1	0	20	68
PLEKHA3	65977	broad.mit.edu	37	2	179368599	179368599	+	Silent	SNP	A	A	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179368599A>T	ENST00000234453.5	+	8	1290	c.888A>T	c.(886-888)ccA>ccT	p.P296P		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	296						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATACTCTTCCATCCTTCTCTT	0.363																																						ENST00000234453.5	0.940000	0.550000	0.820000	0.630000	0.720000	0.732407	0.720000	0.720000																										0				11						c.(886-888)ccA>ccT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							72.0	73.0	72.0					2																	179368599		2202	4300	6502	SO:0001819	synonymous_variant	65977	0	0					g.chr2:179368599A>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.888A>T	chr2.hg19:g.179368599A>T		1						p.P296P	NM_019091.3	NP_061964.3	1	2	3	2.149083	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)	8	1290	+			Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	1	1	hg19	c.888A>T	CCDS33336.1	0																																																																																								0.607969		TCGA-IB-7886-01A-11D-2154-08	0.363	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	1	0	1	2	2	2	2	0	0	0	0	65	65	65	66	1	2.620000	-20.000000	1	0.510000	NM_019091		0	53	53	0	307	298	1		1	1		0	0	65	0	0	1.000000	9.998186e-01	0	15	0	61	0	53	307
TTN	7273	broad.mit.edu	37	2	179537144	179537144	+	Silent	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179537144G>A	ENST00000591111.1	-	150	34022	c.33798C>T	c.(33796-33798)ccC>ccT	p.P11266P	TTN_ENST00000342992.6_Silent_p.P10339P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P11640P|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11266	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGCTGGGGGAACAGCTT	0.338																																						ENST00000591111.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(33796-33798)ccC>ccT		titin							170.0	174.0	172.0					2																	179537144		1827	4074	5901	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179537144G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33798C>T	chr2.hg19:g.179537144G>A		1					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P10339P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P11640P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.P11266P			1	2	3	2.149083	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	150	34022	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	1	1	hg19	c.33798C>T		1																																																																																								0.607969		TCGA-IB-7886-01A-11D-2154-08	0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	2	22	2	2	1	1	1	1	192	192	192	191	1	2.620000	-20.000000	1	0.510000	NM_133378		0	485	482	0	814	804	0		1			1	0	192	0	0	1.000000	0	0	0	0	0	0	485	814
SP140L	93349	broad.mit.edu	37	2	231264898	231264898	+	Silent	SNP	C	C	T	rs61734774	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:231264898C>T	ENST00000415673.2	+	15	1340	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	SP140L_ENST00000396563.4_Silent_p.C383C|SP140L_ENST00000243810.6_Silent_p.C418C|SP140L_ENST00000444636.1_Silent_p.C418C	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	418						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGTTCTGTTGCGACACTTGTT	0.493													C|||	93	0.0185703	0.0673	0.0058	5008	,	,		21835	0.0		0.0	False		,,,				2504	0.0					ENST00000415673.2	1.000000	0.680000	0.920000	0.750000	0.830000	0.842287	0.830000	0.830000																										0				20						c.(1252-1254)tgC>tgT		SP140 nuclear body protein-like		C		186,4006		3,180,1913	186.0	191.0	190.0		1254	-2.5	0.1	2	dbSNP_129	190	1,8489		0,1,4244	no	coding-synonymous	SP140L	NM_138402.4		3,181,6157	TT,TC,CC		0.0118,4.437,1.4745		418/581	231264898	187,12495	2096	4245	6341	SO:0001819	synonymous_variant	93349	571	121102	62				g.chr2:231264898C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1254C>T	chr2.hg19:g.231264898C>T		1					SP140L_ENST00000243810.6_Silent_p.C418C|SP140L_ENST00000396563.4_Silent_p.C383C|SP140L_ENST00000444636.1_Silent_p.C418C	p.C418C	NM_138402.4	NP_612411.4	1	2	3	2.149083	Q9H930	SP14L_HUMAN		15	1340	+			Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	1	0	hg19	c.1254C>T	CCDS46538.1	0																																																																																								0.607969		TCGA-IB-7886-01A-11D-2154-08	0.493	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	1	2	2	2	2	0	0	0	0	91	91	91	91	1	2.620000	-2.934668	1	0.510000	NM_138402		0	98	98	0	476	471	1		1	1		0	0	91	0	0	1.000000	9.998299e-01	0	15	0	48	0	98	476
LYZL4	131375	broad.mit.edu	37	3	42448399	42448399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:42448399C>A	ENST00000287748.3	-	3	506	c.231G>T	c.(229-231)caG>caT	p.Q77H	LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	77					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCCACGCATCTGAAAGAGGC	0.577																																						ENST00000287748.3	1.000000	0.750000	1.000000	0.830000	0.930000	0.923743	0.930000	1.000000																										0				3						c.(229-231)caG>caT		lysozyme-like 4							98.0	83.0	88.0					3																	42448399		2203	4300	6503	SO:0001583	missense	131375	0	0					g.chr3:42448399C>A	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.231G>T	chr3.hg19:g.42448399C>A	ENSP00000287748:p.Gln77His	0					LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H|LYZL4_ENST00000470991.1_5'UTR	p.Q77H	NM_144634.2	NP_653235.1	1	2	3	1.741544	Q96KX0	LYZL4_HUMAN		3	506	-				Missense_Mutation	SNP	ENST00000287748.3	1	1	hg19	c.231G>T	CCDS2697.1	1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334712	0.41297	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.78481	-1.18;-1.18	4.31	3.42	0.39159	4.31	3.42	0.39159	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.89543	0.6745	H	0.95780	3.72	0.37506	D	0.916944	D	0.89917	1.0	D	0.91635	0.999	D	0.91121	0.4930	10	0.87932	D	0	-19.1719	7.4537	0.27252	0.0:0.8802:0.0:0.1198	.	77	Q96KX0	LYZL4_HUMAN	H	77	ENSP00000287748:Q77H;ENSP00000387897:Q77H	ENSP00000287748:Q77H	Q	-	3	2	2	LYZL4	42423403	42423403	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	1.310000	0.33551	2.105000	0.64084	0.563000	0.77884	CAG	0.512486		TCGA-IB-7886-01A-11D-2154-08	0.577	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	1	0	1	2	2	2	2	0	0	0	0	54	54	54	54	1	2.620000	-20.000000	1	0.510000	NM_144634		0	70	70	0	225	224	1		1			0	0	54	0	0	1.000000	0	0	0	0	0	0	70	225
QARS	5859	broad.mit.edu	37	3	49136038	49136038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:49136038C>A	ENST00000306125.6	-	20	2288	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	QARS_ENST00000414533.1_Missense_Mutation_p.V640F|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	651					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTCACCTTGACAACATGCTGC	0.572																																						ENST00000306125.6	1.000000	0.580000	0.990000	0.700000	0.830000	0.837810	0.830000	1.000000																										0				19						c.(1951-1953)Gtc>Ttc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						30.0	30.0	30.0					3																	49136038		2203	4300	6503	SO:0001583	missense	5859	0	0					g.chr3:49136038C>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1951G>T	chr3.hg19:g.49136038C>A	ENSP00000307567:p.Val651Phe	0					QARS_ENST00000414533.1_Missense_Mutation_p.V640F|QARS_ENST00000470225.1_5'Flank	p.V651F			1	2	3	1.741544	P47897	SYQ_HUMAN		20	2288	-			B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	1	1	hg19	c.1951G>T	CCDS2788.1	0	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470300	0.43942	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.24151	1.87;1.87	5.9	-0.927	0.10451	5.9	-0.927	0.10451	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.277142	0.39407	N	0.001378	T	0.39200	0.1069	M	0.89785	3.06	0.80722	D	1	B;B	0.30033	0.266;0.266	B;B	0.42882	0.401;0.401	T	0.26121	-1.0112	10	0.52906	T	0.07	-11.7339	6.1598	0.20358	0.0:0.3728:0.1329:0.4943	.	640;651	B4DWJ2;P47897	.;SYQ_HUMAN	F	171;651;640	ENSP00000307567:V651F;ENSP00000390015:V640F	ENSP00000307567:V651F	V	-	1	0	0	QARS	49111042	49111042	1.000000	0.71417	0.173000	0.22940	0.943000	0.58893	0.624000	0.24462	-0.084000	0.12595	-0.254000	0.11334	GTC	0.512486		TCGA-IB-7886-01A-11D-2154-08	0.572	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	1	0	1	2	2	2	2	0	0	0	0	27	27	27	27	1	2.620000	-20.000000	1	0.510000	NM_005051		0	28	27	0	104	104	1		1	1		0	0	27	0	0	1.000000	1	0	142	0	309	0	28	104
CWH43	80157	broad.mit.edu	37	4	49019292	49019292	+	Silent	SNP	T	T	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:49019292T>C	ENST00000226432.4	+	9	1396	c.1213T>C	c.(1213-1215)Ttg>Ctg	p.L405L	CWH43_ENST00000513409.1_Silent_p.L378L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	405					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGTGGGATTGTTGGGATT	0.308																																						ENST00000226432.4	1.000000	0.840000	1.000000	0.930000	0.990000	0.978762	0.990000	1.000000																										0				43						c.(1213-1215)Ttg>Ctg		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							99.0	101.0	100.0					4																	49019292		2203	4300	6503	SO:0001819	synonymous_variant	80157	0	0					g.chr4:49019292T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1213T>C	chr4.hg19:g.49019292T>C		0					CWH43_ENST00000513409.1_Silent_p.L378L	p.L405L	NM_025087.2	NP_079363.2	1	2	3	1.756223	Q9H720	PG2IP_HUMAN		9	1396	+			B2RPD7	Silent	SNP	ENST00000226432.4	1	1	hg19	c.1213T>C	CCDS3486.1	1																																																																																								0.514948		TCGA-IB-7886-01A-11D-2154-08	0.308	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1	2	2	2	2	0	0	0	0	51	51	51	50	1	2.620000	-20.000000	1	0.510000	NM_025087		0	78	78	0	219	214	1		1	0		0	0	51	0	0	1.000000	0	0	0	0	1	0	78	219
FAT1	2195	broad.mit.edu	37	4	187542860	187542860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:187542860C>T	ENST00000441802.2	-	10	5089	c.4880G>A	c.(4879-4881)cGa>cAa	p.R1627Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTACTTCGATCTAATTC	0.368										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2	1.000000	0.720000	1.000000	0.840000	0.990000	0.942284	0.990000	1.000000																										0				228						c.(4879-4881)cGa>cAa		FAT atypical cadherin 1							36.0	35.0	35.0					4																	187542860		1856	4087	5943	SO:0001583	missense	2195	3	120792	32				g.chr4:187542860C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4880G>A	chr4.hg19:g.187542860C>T	ENSP00000406229:p.Arg1627Gln	0	HNSCC(5;0.00058)					p.R1627Q	NM_005245.3	NP_005236.2	1	2	3	1.814907	Q14517	FAT1_HUMAN		10	5089	-				Missense_Mutation	SNP	ENST00000441802.2	1	1	hg19	c.4880G>A	CCDS47177.1	1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664646	0.29604	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01725	4.67	5.09	4.25	0.50352	5.09	4.25	0.50352	Cadherin (4);Cadherin-like (1);	0.062767	0.64402	D	0.000004	T	0.02929	0.0087	M	0.76433	2.335	0.51482	D	0.999925	B	0.29590	0.25	B	0.23018	0.043	T	0.47341	-0.9125	10	0.27785	T	0.31	.	10.879	0.46927	0.0:0.8009:0.0:0.1991	.	1627	Q14517	FAT1_HUMAN	Q	1627;1629	ENSP00000406229:R1627Q	ENSP00000260147:R1629Q	R	-	2	0	0	FAT1	187779854	187779854	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.960000	0.40422	1.514000	0.48869	0.650000	0.86243	CGA	0.523369		TCGA-IB-7886-01A-11D-2154-08	0.368	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	2.620000	-20.000000	1	0.510000	NM_005245		0	35	35	0	109	108	1		1	1		0	0	25	0	0	1.000000	1	0	28	0	86	0	35	109
ANKHD1	54882	broad.mit.edu	37	5	139918629	139918629	+	Silent	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:139918629A>G	ENST00000360839.2	+	33	7684	c.7530A>G	c.(7528-7530)aaA>aaG	p.K2510K	ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1_ENST00000297183.6_Silent_p.K2510K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2510						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATAAAAGTTATCCAAA	0.403																																						ENST00000360839.2	1.000000	0.820000	1.000000	0.910000	0.990000	0.970894	0.990000	1.000000																										0				60						c.(7528-7530)aaA>aaG		ankyrin repeat and KH domain containing 1							83.0	81.0	81.0					5																	139918629		2203	4300	6503	SO:0001819	synonymous_variant	54882	0	0					g.chr5:139918629A>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7530A>G	chr5.hg19:g.139918629A>G		1					ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K|ANKHD1_ENST00000297183.6_Silent_p.K2510K	p.K2510K	NM_017747.2	NP_060217.1	1	2	3	2.196943	Q8IWZ3	ANKH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	33	7684	+			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	1	1	hg19	c.7530A>G	CCDS4225.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.539|4.539	0.100145|0.100145	0.08731|0.08731	.|.	.|.	ENSG00000131503|ENSG00000131503	ENST00000421706|ENST00000435794;ENST00000432301	T|.	0.59638|.	0.25|.	5.87|5.87	4.73|4.73	0.59995|0.59995	5.87|5.87	4.73|4.73	0.59995|0.59995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59445|0.59445	0.2194|0.2194	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57619|0.57619	-0.7780|-0.7780	7|4	0.87932|.	D|.	0|.	.|.	8.6414|8.6414	0.33978|0.33978	0.8578:0.0:0.1422:0.0|0.8578:0.0:0.1422:0.0	.|.	.|.	.|.	.|.	R|G	168|992;902	ENSP00000405345:K168R|.	ENSP00000405345:K168R|.	K|S	+|+	2|1	0|0	0|0	ANKHD1|ANKHD1	139898813|139898813	139898813|139898813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.347000|2.347000	0.44036|0.44036	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	AAG|AGT	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	1	0	1	2	2	2	2	0	0	0	0	39	39	39	39	1	2.620000	-20.000000	1	0.510000	NM_017747		0	73	73	0	278	276	1		1	1		0	0	39	0	0	1.000000	1	0	34	0	101	0	73	278
DAB2	1601	broad.mit.edu	37	5	39383071	39383071	+	Silent	SNP	C	C	T	rs199558080		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:39383071C>T	ENST00000320816.6	-	10	1457	c.990G>A	c.(988-990)ccG>ccA	p.P330P	DAB2_ENST00000509337.1_Silent_p.P309P|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	330	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTACTCAGCGGAGTAGACG	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19568	0.0		0.0	False		,,,				2504	0.0					ENST00000320816.6	0.980000	0.680000	0.910000	0.750000	0.820000	0.836859	0.820000	0.840000																										0				47						c.(988-990)ccG>ccA		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)		C		1,4405	2.1+/-5.4	0,1,2202	94.0	98.0	96.0		990	-4.7	1.0	5		96	0,8600		0,0,4300	no	coding-synonymous	DAB2	NM_001343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		330/771	39383071	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1601	6	121412	43				g.chr5:39383071C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.990G>A	chr5.hg19:g.39383071C>T		1					DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000509337.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron	p.P330P	NM_001343.3	NP_001334.2	1	2	3	2.177618	P98082	DAB2_HUMAN	Epithelial(62;0.137)	10	1457	-	all_lung(31;0.000197)		A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	1	1	hg19	c.990G>A	CCDS34149.1	0																																																																																								0.609562		TCGA-IB-7886-01A-11D-2154-08	0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	1	0	1	2	2	2	2	0	0	0	0	81	81	81	79	1	2.620000	-20.000000	1	0.510000	NM_001343		0	99	99	0	486	482	1		1	1		0	0	81	0	0	1.000000	1	0	14	0	157	0	99	486
GPR98	84059	broad.mit.edu	37	5	89971103	89971103	+	Silent	SNP	C	C	T	rs371138490		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:89971103C>T	ENST00000405460.2	+	24	5250	c.5154C>T	c.(5152-5154)gaC>gaT	p.D1718D	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1718	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCTAAGGACGCAATGACCC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16840	0.0		0.0	False		,,,				2504	0.0					ENST00000405460.2	0.790000	0.360000	0.680000	0.450000	0.560000	0.572702	0.560000	0.550000																										0				269						c.(5152-5154)gaC>gaT		G protein-coupled receptor 98		C		4,4166		0,4,2081	62.0	65.0	64.0		5154	-4.0	0.0	5		64	0,8434		0,0,4217	no	coding-synonymous	GPR98	NM_032119.3		0,4,6298	TT,TC,CC		0.0,0.0959,0.0317		1718/6307	89971103	4,12600	2085	4217	6302	SO:0001819	synonymous_variant	84059	11	120964	38				g.chr5:89971103C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5154C>T	chr5.hg19:g.89971103C>T		1					GPR98_ENST00000450321.2_3'UTR	p.D1718D	NM_032119.3	NP_115495.3	1	2	3	2.196943	Q8WXG9	GPR98_HUMAN		24	5250	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	0	1	hg19	c.5154C>T	CCDS47246.1	0																																																																																								0.609562		TCGA-IB-7886-01A-11D-2154-08	0.527	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	2	2	2	2	0	0	0	0	19	19	19	19	1	2.620000	-20.000000	1	0.510000	NM_032119		0	22	22	0	173	173	1		1			0	0	19	0	0	0.999999	0	0	0	0	0	0	22	173
HMMR	3161	broad.mit.edu	37	5	162901193	162901193	+	Silent	SNP	A	A	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:162901193A>T	ENST00000358715.3	+	10	1068	c.1032A>T	c.(1030-1032)tcA>tcT	p.S344S	HMMR_ENST00000393915.4_Silent_p.S345S|HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000432118.2_Silent_p.S258S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	344					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAATTGATTCACTTCTGCAAC	0.303																																						ENST00000358715.3	0.870000	0.420000	0.760000	0.520000	0.630000	0.644012	0.630000	0.630000																										0				23						c.(1030-1032)tcA>tcT		hyaluronan-mediated motility receptor (RHAMM)	Hyaluronan(DB08818)						72.0	72.0	72.0					5																	162901193		2202	4299	6501	SO:0001819	synonymous_variant	3161	0	0					g.chr5:162901193A>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1032A>T	chr5.hg19:g.162901193A>T		1					HMMR_ENST00000432118.2_Silent_p.S258S|HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000393915.4_Silent_p.S345S	p.S344S			1	2	3	2.196943	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	10	1068	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	1	1	hg19	c.1032A>T	CCDS4362.1	0																																																																																								0.609562		TCGA-IB-7886-01A-11D-2154-08	0.303	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	1	0	1	2	2	2	2	0	0	0	0	31	31	31	31	1	2.620000	-12.684170	1	0.510000	NM_012484		0	25	25	0	171	171	1		1	1		0	0	31	0	0	1.000000	9.125242e-01	0	10	0	21	0	25	171
TNXB	7148	broad.mit.edu	37	6	32038177	32038177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:32038177C>T	ENST00000375244.3	-	14	5206	c.5005G>A	c.(5005-5007)Gcc>Acc	p.A1669T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T			P22105	TENX_HUMAN	tenascin XB	1751	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGCTGGCGTCACCTCGG	0.607																																						ENST00000375244.3	1.000000	0.740000	1.000000	0.880000	0.990000	0.959706	0.990000	1.000000																										0				8						c.(5005-5007)Gcc>Acc		tenascin XB							14.0	15.0	15.0					6																	32038177		1915	4096	6011	SO:0001583	missense	7148	0	0					g.chr6:32038177C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5005G>A	chr6.hg19:g.32038177C>T	ENSP00000364393:p.Ala1669Thr	0					TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T	p.A1669T			1	2	3	1.740710	P22105	TENX_HUMAN		14	5206	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	1	1	hg19	c.5005G>A		1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133059	0.21041	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55760	0.66;0.5	4.87	0.759	0.18438	4.87	0.759	0.18438	.	0.363230	0.20233	N	0.096454	T	0.08714	0.0216	N	0.17379	0.485	0.09310	N	1	P	0.37352	0.591	B	0.28385	0.089	T	0.28106	-1.0054	10	0.11182	T	0.66	.	4.8372	0.13471	0.1514:0.5711:0.0:0.2775	.	1669	P22105-3	.	T	1669	ENSP00000364393:A1669T;ENSP00000364396:A1669T	ENSP00000364393:A1669T	A	-	1	0	0	TNXB	32146155	32146155	0.028000	0.19301	0.707000	0.30419	0.942000	0.58702	-0.065000	0.11617	0.459000	0.27016	0.609000	0.83330	GCC	0.512486		TCGA-IB-7886-01A-11D-2154-08	0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1	2	2	2	2	0	0	0	0	23	23	23	22	1	2.620000	-19.996360	1	0.510000	NM_019105		0	28	27	0	77	76	1		1	0		0	0	23	0	0	1.000000	1.830337e-01	0	0	0	3	0	28	77
PDE10A	10846	broad.mit.edu	37	6	165809905	165809905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:165809905G>A	ENST00000366882.1	-	15	1446	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M|PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	431					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.T431M(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTTTTCCATCGTTACCCGGTA	0.393																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1	1.000000	0.940000	1.000000	0.990000	0.990000	0.996794	0.990000	1.000000																										1	Substitution - Missense(1)	p.T431M(1)	large_intestine(1)	71						c.(1291-1293)aCg>aTg		phosphodiesterase 10A	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)						190.0	159.0	170.0					6																	165809905		2203	4300	6503	SO:0001583	missense	10846	0	0					g.chr6:165809905G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1292C>T	chr6.hg19:g.165809905G>A	ENSP00000355847:p.Thr431Met	0					PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M|PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M	p.T431M			1	2	3	1.761470	Q9Y233	PDE10_HUMAN		15	1446	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	1	1	hg19	c.1292C>T		1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233162	0.79688	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69806	-0.43;-0.43	5.34	5.34	0.76211	5.34	5.34	0.76211	.	1.162770	0.06098	N	0.664795	T	0.79981	0.4540	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.80764	0.994;0.882	T	0.71823	-0.4476	10	0.52906	T	0.07	.	19.0469	0.93025	0.0:0.0:1.0:0.0	.	441;431	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	431;459;441;431;430	ENSP00000355847:T431M;ENSP00000346435:T431M	ENSP00000341187:T441M	T	-	2	0	0	PDE10A	165729895	165729895	1.000000	0.71417	0.148000	0.22405	0.607000	0.37147	9.409000	0.97331	2.508000	0.84585	0.650000	0.86243	ACG	0.516169		TCGA-IB-7886-01A-11D-2154-08	0.393	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1	2	2	2	2	0	0	0	0	89	89	89	89	1	2.620000	-20.000000	1	0.510000			0	165	163	0	436	432	1		1	0		0	0	89	0	0	1.000000	5.242315e-01	0	1	0	5	0	165	436
ZMIZ2	83637	broad.mit.edu	37	7	44801069	44801069	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:44801069T>G	ENST00000309315.4	+	10	1385	c.1262T>G	c.(1261-1263)tTg>tGg	p.L421W	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	421					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTGACGAGTTGCGGCTGACC	0.637																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4	1.000000	0.670000	0.970000	0.760000	0.860000	0.869228	0.860000	1.000000																										0				35						c.(1261-1263)tTg>tGg		zinc finger, MIZ-type containing 2							48.0	58.0	55.0					7																	44801069		2202	4299	6501	SO:0001583	missense	83637	0	0					g.chr7:44801069T>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1262T>G	chr7.hg19:g.44801069T>G	ENSP00000311778:p.Leu421Trp	1					ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W	p.L421W	NM_031449.3	NP_113637.3	1	2	3	2.154831	Q8NF64	ZMIZ2_HUMAN		10	1385	+			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	1	1	hg19	c.1262T>G	CCDS43576.1	1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744049	0.89663	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.91	4.91	0.64330	4.91	4.91	0.64330	.	0.000000	0.46145	D	0.000305	T	0.66436	0.2789	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70245	-0.4925	10	0.72032	D	0.01	-8.1827	14.3763	0.66879	0.0:0.0:0.0:1.0	.	395;421;363	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	W	363;421;421;389;395;421	ENSP00000409648:L363W;ENSP00000311778:L421W;ENSP00000414723:L421W;ENSP00000396601:L389W;ENSP00000265346:L395W	ENSP00000265346:L395W	L	+	2	0	0	ZMIZ2	44767594	44767594	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.408000	0.80041	2.060000	0.61445	0.533000	0.62120	TTG	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.637	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	1	0	1	2	2	2	2	0	0	0	0	73	73	73	70	1	2.620000	-20.000000	1	0.510000	NM_031449		0	61	54	0	285	278	1		1	1		0	0	73	0	0	1.000000	9.999999e-01	0	23	0	93	0	61	285
ABCB1	5243	broad.mit.edu	37	7	87195527	87195527	+	Silent	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:87195527A>G	ENST00000265724.3	-	8	978	c.561T>C	c.(559-561)ggT>ggC	p.G187G	ABCB1_ENST00000543898.1_Silent_p.G123G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	187	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAATTTTGTCACCAATTCCTT	0.363																																						ENST00000265724.3	1.000000	0.740000	1.000000	0.820000	0.900000	0.907314	0.900000	1.000000																										0				111						c.(559-561)ggT>ggC		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)						144.0	134.0	137.0					7																	87195527		2203	4300	6503	SO:0001819	synonymous_variant	5243	0	0					g.chr7:87195527A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.561T>C	chr7.hg19:g.87195527A>G		1					ABCB1_ENST00000543898.1_Silent_p.G123G	p.G187G	NM_000927.4	NP_000918.2	1	2	3	2.173754	P08183	MDR1_HUMAN		8	978	-	Esophageal squamous(14;0.00164)		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	1	1	hg19	c.561T>C	CCDS5608.1	1																																																																																								0.609562		TCGA-IB-7886-01A-11D-2154-08	0.363	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1	2	2	2	2	0	0	0	0	62	62	62	62	1	2.620000	-20.000000	1	0.510000	NM_000927		0	91	91	0	401	399	1		1	0		0	0	62	0	0	1.000000	9.170654e-02	0	0	0	3	0	91	401
CDK14	5218	broad.mit.edu	37	7	90356126	90356126	+	Splice_Site	SNP	G	G	C	rs55722725		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:90356126G>C	ENST00000380050.3	+	3	500	c.369G>C	c.(367-369)tcG>tcC	p.S123S	CDK14_ENST00000265741.3_Splice_Site_p.S105S|CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000406263.1_Splice_Site_p.S77S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	123					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCCCAGCTCGGTAAGTGCAG	0.463																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000380050.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				32						c.(367-369)tcG>tcC		cyclin-dependent kinase 14							64.0	61.0	62.0					7																	90356126		2203	4299	6502	SO:0001630	splice_region_variant	5218	0	0					g.chr7:90356126G>C		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.369+1G>C	chr7.hg19:g.90356126G>C		1					CDK14_ENST00000406263.1_Splice_Site_p.S77S|CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000265741.3_Splice_Site_p.S105S	p.S123S			1	2	3	2.173754	O94921	CDK14_HUMAN		3	500	+			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Splice_Site	SNP	ENST00000380050.3	0	0	hg19	c.369G>C		1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624665	0.46840	.	.	ENSG00000058091	ENST00000436577	T	0.46451	0.87	5.51	4.6	0.57074	5.51	4.6	0.57074	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.19775	N	0.999956	P	0.43287	0.802	B	0.39465	0.3	T	0.38415	-0.9662	8	0.87932	D	0	-2.8377	14.3863	0.66947	0.0:0.0:0.7431:0.2569	.	26	E7EUK8	.	P	26	ENSP00000398936:R26P	ENSP00000398936:R26P	R	+	2	0	0	CDK14	90194062	90194062	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.836000	0.39191	2.588000	0.87417	0.563000	0.77884	CGG	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.463	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	1	0	1	2	2	2	2	0	0	0	0	62	62	62	62	1	2.620000	-20.000000	1	0.510000	NM_012395	Silent	0	201	196	0	306	303	1		1	1		0	0	62	0	0	1.000000	1	0	3	0	49	0	201	306
PIK3CG	5294	broad.mit.edu	37	7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCAGACCCGGCCCTAGAC	0.587																																						ENST00000359195.3	1.000000	0.890000	1.000000	0.990000	0.990000	0.991492	0.990000	1.000000																										0				132						c.(937-939)cCg>cTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							56.0	53.0	54.0					7																	106508944		2203	4300	6503	SO:0001583	missense	5294	0	0					g.chr7:106508944C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.938C>T	chr7.hg19:g.106508944C>T	ENSP00000352121:p.Pro313Leu	1					PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L	p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	1	2	3	2.170677	P48736	PK3CG_HUMAN		2	1248	+			A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	1	1	hg19	c.938C>T	CCDS5739.1	1	.	.	.	.	.	.	.	.	.	.	C	4.728	0.135454	0.09032	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.68181	-0.31;-0.31;-0.31	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.047482	0.85682	D	0.000000	T	0.62575	0.2439	L	0.48362	1.52	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.55579	-0.8119	10	0.24483	T	0.36	-17.0025	19.9421	0.97168	0.0:1.0:0.0:0.0	.	313	P48736	PK3CG_HUMAN	L	313	ENSP00000392258:P313L;ENSP00000419260:P313L;ENSP00000352121:P313L	ENSP00000352121:P313L	P	+	2	0	0	PIK3CG	106296180	106296180	1.000000	0.71417	0.967000	0.41034	0.035000	0.12851	6.044000	0.71012	2.714000	0.92807	0.561000	0.74099	CCG	0.609562		TCGA-IB-7886-01A-11D-2154-08	0.587	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	1	0	1	2	2	2	2	0	0	0	0	58	58	58	58	1	2.620000	-3.425926	1	0.510000			0	90	90	0	315	312	1		1	0		0	0	58	0	0	1.000000	5.618462e-01	0	0	0	8	0	90	315
KHDRBS3	10656	broad.mit.edu	37	8	136594144	136594144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:136594144G>A	ENST00000355849.5	+	6	1045	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	212	Interaction with SIAH1.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTTACAGCCCGGCCAGTTGGA	0.502																																						ENST00000355849.5	1.000000	0.640000	0.910000	0.720000	0.800000	0.817499	0.800000	0.800000																										0				26						c.(634-636)cGg>cAg		KH domain containing, RNA binding, signal transduction associated 3							87.0	88.0	88.0					8																	136594144		2203	4300	6503	SO:0001583	missense	10656	2	121410	37				g.chr8:136594144G>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.635G>A	chr8.hg19:g.136594144G>A	ENSP00000348108:p.Arg212Gln	1					KHDRBS3_ENST00000520981.1_Intron	p.R212Q	NM_006558.1	NP_006549.1	2	2	4	2.524000	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)	6	1045	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	1	1	hg19	c.635G>A	CCDS6374.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.942837|2.942837	0.53079|0.53079	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.45668	.|0.89	5.98|5.98	5.98|5.98	0.97165|0.97165	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.364746	.|0.32372	.|N	.|0.006188	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;P	.|0.44816	.|0.431;0.844	.|B;B	.|0.37833	.|0.099;0.259	T|T	0.12400|0.12400	-1.0549|-1.0549	5|10	.|0.46703	.|T	.|0.11	-17.1845|-17.1845	14.227|14.227	0.65866|0.65866	0.0:0.2458:0.7542:0.0|0.0:0.2458:0.7542:0.0	.|.	.|212;212	.|O75525-2;O75525	.|.;KHDR3_HUMAN	S|Q	127|212;184	.|ENSP00000348108:R212Q	.|ENSP00000348108:R212Q	G|R	+|+	1|2	0|0	0|0	KHDRBS3|KHDRBS3	136663326|136663326	136663326|136663326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	4.526000|4.526000	0.60566|0.60566	2.843000|2.843000	0.97960|0.97960	0.585000|0.585000	0.79938|0.79938	GGC|CGG	0.665323		TCGA-IB-7886-01A-11D-2154-08	0.502	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1	1	0	1	2	2	2	2	0	0	0	0	79	79	79	79	1	2.620000	-3.318814	1	0.510000			0	85	84	0	527	518	1		1	1		0	0	79	0	0	1.000000	9.912226e-01	0	2	0	45	0	85	527
COL22A1	169044	broad.mit.edu	37	8	139629165	139629165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:139629165C>T	ENST00000303045.6	-	54	4308	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587										HNSCC(7;0.00092)																												ENST00000303045.6	1.000000	0.740000	1.000000	0.830000	0.930000	0.924188	0.930000	1.000000																										0				211						c.(3862-3864)Ggt>Agt		collagen, type XXII, alpha 1							67.0	69.0	68.0					8																	139629165		2203	4300	6503	SO:0001583	missense	169044	1	121412	32				g.chr8:139629165C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3862G>A	chr8.hg19:g.139629165C>T	ENSP00000303153:p.Gly1288Ser	1	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S	p.G1288S	NM_152888.1	NP_690848.1	2	2	4	2.524000	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)	54	4308	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	1	1	hg19	c.3862G>A	CCDS6376.1	1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252523	0.39797	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99329	-5.75;-5.75	4.35	4.35	0.52113	4.35	4.35	0.52113	.	0.281024	0.24791	N	0.035575	D	0.99704	0.9887	H	0.99634	4.67	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97160	0.9837	10	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1268;1288	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1288;1268;981	ENSP00000303153:G1288S;ENSP00000387655:G1268S	ENSP00000303153:G1288S	G	-	1	0	0	COL22A1	139698347	139698347	0.997000	0.39634	0.990000	0.47175	0.154000	0.21943	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGT	0.665323		TCGA-IB-7886-01A-11D-2154-08	0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1	2	2	2	2	0	0	0	0	76	76	76	76	1	2.620000	-2.973463	1	0.510000	XM_291257		0	79	79	0	411	407	1		1	1		0	0	76	0	0	1.000000	8.724390e-01	0	2	0	19	0	79	411
LMX1B	4010	broad.mit.edu	37	9	129455511	129455511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:129455511G>A	ENST00000373474.4	+	4	657	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217Q|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AAGGACCCGCGGAGGCCCAAG	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000373474.4	1.000000	0.170000	1.000000	0.260000	0.400000	0.494489	0.400000	0.350000																										0				15						c.(649-651)cGg>cAg		LIM homeobox transcription factor 1, beta							37.0	39.0	39.0					9																	129455511		2202	4300	6502	SO:0001583	missense	4010	0	0		Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	g.chr9:129455511G>A	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.650G>A	chr9.hg19:g.129455511G>A	ENSP00000362573:p.Arg217Gln	1					LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217Q|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q	p.R217Q			0	4	4	1.918591	O60663	LMX1B_HUMAN		4	657	+			F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	0	1	hg19	c.650G>A	CCDS55342.1	0	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989886	0.93106	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.95853	-1.08;-1.08;-3.83;-1.08	4.97	4.97	0.65823	4.97	4.97	0.65823	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	L	0.51422	1.61	0.80722	D	1	P;P;D	0.55800	0.8;0.88;0.973	B;B;B	0.44108	0.206;0.164;0.441	D	0.91782	0.5436	10	0.10636	T	0.68	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	Q	217;217;217;194	ENSP00000436930:R217Q;ENSP00000362573:R217Q;ENSP00000347684:R217Q;ENSP00000390923:R194Q	ENSP00000347684:R217Q	R	+	2	0	0	LMX1B	128495332	128495332	1.000000	0.71417	0.882000	0.34594	0.936000	0.57629	6.381000	0.73163	2.299000	0.77371	0.462000	0.41574	CGG	0.563435		TCGA-IB-7886-01A-11D-2154-08	0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	1	0	1	2	2	2	2	0	0	0	0	17	17	17	17	1	2.620000	-11.746420	1	0.510000			0	7	7	0	81	81	0		1			0	0	17	0	0	0.982073	0	0	0	0	0	0	7	81
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	1.000000	0.990000	1.000000	0.990000	0.990000	0.999998	0.990000	1.000000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																								1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	0	0					g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	chr9.hg19:g.21971120G>A	ENSP00000307101:p.Arg80*	1	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	0	2	2	1.611550	P42771	CD2A1_HUMAN		2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	0	1	hg19	c.238C>T	CCDS6510.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	0|2	CDKN2A|CDKN2A	21961120|21961120	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA	0.510000		TCGA-IB-7886-01A-11D-2154-08	0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	22	1	2.620000	-10.111250	1	0.510000	NM_000077		0	44	36	0	58	47	0		1		1	0	0	27	129	0	1.000000	0	1	0	65	0	52	44	58
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597																																						ENST00000371817.3	1.000000	0.420000	1.000000	0.490000	0.580000	0.659994	0.580000	0.550000																										0				115						c.(1969-1971)cCg>cTg		collagen, type V, alpha 1			LEU/PRO	0,4404		0,0,2202	109.0	100.0	103.0		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	SO:0001583	missense	1289	6	121392	41				g.chr9:137653805C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1970C>T	chr9.hg19:g.137653805C>T	ENSP00000360882:p.Pro657Leu	1						p.P657L	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	0	3	3	1.907760	P20908	CO5A1_HUMAN		19	2384	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.1970C>T	CCDS6982.1	0	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	0	COL5A1	136793626	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG	0.552246		TCGA-IB-7886-01A-11D-2154-08	0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	2	2	2	2	0	0	0	0	82	82	82	82	1	2.620000	-3.075841	1	0.510000	NM_000093		0	48	48	0	324	321	1		1	0		0	0	82	0	0	1.000000	1	0	0	0	250	0	48	324
ARMCX1	51309	broad.mit.edu	37	X	100808322	100808322	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:100808322A>G	ENST00000372829.3	+	4	780	c.409A>G	c.(409-411)Acc>Gcc	p.T137A		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	137						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGGGAACAGGACCCTTGCACC	0.612																																						ENST00000372829.3	0.630000	0.440000	0.580000	0.480000	0.530000	0.540591	0.530000	0.540000																										0				19						c.(409-411)Acc>Gcc		armadillo repeat containing, X-linked 1							74.0	68.0	70.0					X																	100808322		2203	4300	6503	SO:0001583	missense	51309	0	0					g.chrX:100808322A>G	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.409A>G	chrX.hg19:g.100808322A>G	ENSP00000361917:p.Thr137Ala							p.T137A	NM_016608.1	NP_057692.1	0	1	1		Q9P291	ARMX1_HUMAN		4	780	+			Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	1	1	hg19	c.409A>G	CCDS14487.1	0	.	.	.	.	.	.	.	.	.	.	a	9.041	0.989764	0.18966	.	.	ENSG00000126947	ENST00000372829	T	0.28454	1.61	3.86	1.39	0.22231	3.86	1.39	0.22231	.	0.509670	0.16809	N	0.198655	T	0.11153	0.0272	N	0.12182	0.205	0.24652	N	0.993514	B	0.06786	0.001	B	0.04013	0.001	T	0.33523	-0.9865	10	0.02654	T	1	-1.2837	3.4353	0.07444	0.6406:0.2323:0.1271:0.0	.	137	Q9P291	ARMX1_HUMAN	A	137	ENSP00000361917:T137A	ENSP00000361917:T137A	T	+	1	0	0	ARMCX1	100694978	100694978	0.868000	0.29978	0.977000	0.42913	0.890000	0.51754	0.859000	0.27858	0.166000	0.19597	0.451000	0.29950	ACC	0.510000		TCGA-IB-7886-01A-11D-2154-08	0.612	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	1	0	1	2	2	2	2	0	0	0	0	52	52	52	52	1	2.620000	-20.000000	1	0.510000	NM_016608		0	101	101	0	266	260	1		1	0		0	0	52	0	0	1.000000	9.997161e-01	0	0	0	34	0	101	266
