#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAT1	2195	broad.mit.edu	37	4	187630900	187630900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:187630900C>A	ENST00000441802.2	-	2	291	c.82G>T	c.(82-84)Gaa>Taa	p.E28*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	28					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						GGAGTCTGTTCAAGTCGTTGG	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(82-84)Gaa>Taa		FAT atypical cadherin 1							46.0	44.0	45.0					4																	187630900		2065	4206	6271	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630900C>A	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.82G>T	4.37:g.187630900C>A	ENSP00000406229:p.Glu28*	HNSCC(5;0.00058)					p.E28*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	291	-			28						Nonsense_Mutation	SNP	ENST00000441802.2	37	c.82G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014667	0.75161	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	.	.	.	4.51	4.51	0.55191	.	1.000120	0.08080	N	1.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.2241	0.65848	0.0:0.8495:0.1505:0.0	.	.	.	.	X	28	.	ENSP00000260147:E28X	E	-	1	0	FAT1	187867894	0.322000	0.24634	0.015000	0.15790	0.108000	0.19459	2.545000	0.45769	2.501000	0.84356	0.313000	0.20887	GAA		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	32	1	0	0.0293803	1	0.0296325	7	32				
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	A	rs587778720		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:7578211C>A	ENST00000269305.4	-	6	827	c.638G>T	c.(637-639)cGa>cTa	p.R213L	TP53_ENST00000445888.2_Missense_Mutation_p.R213L|TP53_ENST00000420246.2_Missense_Mutation_p.R213L|TP53_ENST00000413465.2_Missense_Mutation_p.R213L|TP53_ENST00000455263.2_Missense_Mutation_p.R213L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R213L	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(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	GRCh37	CM004906|CM022474	TP53	M		c.(637-639)cGa>cTa	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	122.0					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211C>A	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.638G>T	17.37:g.7578211C>A	ENSP00000269305:p.Arg213Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R213L|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R213L|TP53_ENST00000359597.4_Missense_Mutation_p.R213L|TP53_ENST00000455263.2_Missense_Mutation_p.R213L|TP53_ENST00000445888.2_Missense_Mutation_p.R213L	p.R213L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	770	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.638G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890676	0.97074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	D	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.53688	D	0.999978	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.996;0.999;0.989;0.986;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213L;ENSP00000352610:R213L;ENSP00000269305:R213L;ENSP00000398846:R213L;ENSP00000391127:R213L;ENSP00000391478:R213L;ENSP00000425104:R81L;ENSP00000423862:R120L	ENSP00000269305:R213L	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	44	1	0	0.0293803	1	0.0296325	6	44				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	105	0	0	0	1	0	4	105				
LRRC71	149499	broad.mit.edu	37	1	156897444	156897444	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:156897444G>A	ENST00000337428.7	+	7	973	c.819G>A	c.(817-819)gcG>gcA	p.A273A	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	273										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GCTACATCGCGGACGTGAGTG	0.692											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(817-819)gcG>gcA		leucine rich repeat containing 71							15.0	18.0	17.0					1																	156897444		2040	4174	6214	SO:0001819	synonymous_variant	149499							g.chr1:156897444G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.819G>A	1.37:g.156897444G>A			OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	LRRC71_ENST00000490146.1_3'UTR	p.A273A	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			7	973	+			273					Q96M24	Silent	SNP	ENST00000337428.7	37	c.819G>A	CCDS44249.1																																																																																				0.692	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		4	29	0	0	0	1	0	4	29				
SLITRK4	139065	broad.mit.edu	37	X	142718733	142718733	+	Silent	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:142718733G>C	ENST00000381779.4	-	2	417	c.192C>G	c.(190-192)ctC>ctG	p.L64L	SLITRK4_ENST00000356928.1_Silent_p.L64L|SLITRK4_ENST00000338017.4_Silent_p.L64L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	64						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGAAATTGAGGTGATAAA	0.368																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(190-192)ctC>ctG		SLIT and NTRK-like family, member 4							49.0	50.0	50.0					X																	142718733		2203	4298	6501	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718733G>C	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.192C>G	X.37:g.142718733G>C						SLITRK4_ENST00000356928.1_Silent_p.L64L|SLITRK4_ENST00000338017.4_Silent_p.L64L	p.L64L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	417	-	Acute lymphoblastic leukemia(192;6.56e-05)		64					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.192C>G	CCDS14679.1																																																																																				0.368	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		24	126	0	0	0	1	0	24	126				
DDX60L	91351	broad.mit.edu	37	4	169336575	169336575	+	Missense_Mutation	SNP	G	G	A	rs375142237	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:169336575G>A	ENST00000511577.1	-	22	3210	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	DDX60L_ENST00000505890.1_Missense_Mutation_p.A988V|DDX60L_ENST00000260184.7_Missense_Mutation_p.A988V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	988							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTCGTTAGCGCAGCACAGGG	0.343													G|||	4	0.000798722	0.0023	0.0	5008	,	,		14564	0.001		0.0	False		,,,				2504	0.0					ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2962-2964)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like		G	VAL/ALA	3,3785		0,3,1891	108.0	102.0	104.0		2963	2.2	0.5	4		104	0,8238		0,0,4119	no	missense	DDX60L	NM_001012967.1	64	0,3,6010	AA,AG,GG		0.0,0.0792,0.0249	possibly-damaging	988/1707	169336575	3,12023	1894	4119	6013	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169336575G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2963C>T	4.37:g.169336575G>A	ENSP00000422423:p.Ala988Val					DDX60L_ENST00000505890.1_Missense_Mutation_p.A988V|DDX60L_ENST00000260184.7_Missense_Mutation_p.A988V	p.A988V			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	22	3210	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	988					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2963C>T		.	.	.	.	.	.	.	.	.	.	G	12.90	2.077735	0.36662	7.92E-4	0.0	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.19394	2.15;2.15;2.15;2.9	3.05	2.19	0.27852	.	0.206126	0.22867	U	0.054680	T	0.32556	0.0833	L	0.49350	1.555	0.22842	N	0.998666	D;D;D	0.76494	0.999;0.989;0.999	P;P;P	0.60949	0.881;0.637;0.881	T	0.06752	-1.0809	10	0.59425	D	0.04	.	9.7156	0.40272	0.1101:0.0:0.8899:0.0	.	988;988;988	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	V	988;988;988;684	ENSP00000260184:A988V;ENSP00000422423:A988V;ENSP00000422202:A988V;ENSP00000421026:A684V	ENSP00000260184:A988V	A	-	2	0	DDX60L	169573150	0.993000	0.37304	0.526000	0.27913	0.194000	0.23727	4.309000	0.59135	0.367000	0.24454	0.313000	0.20887	GCG		0.343	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		17	38	0	0	0	1	0	17	38				
MUC5B	727897	broad.mit.edu	37	11	1276645	1276645	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:1276645C>T	ENST00000529681.1	+	37	15981	c.15923C>T	c.(15922-15924)cCg>cTg	p.P5308L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P5311L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5308					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTGTGCCCCCGGGCCCATTC	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15931-15933)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming							23.0	26.0	25.0					11																	1276645		1985	4150	6135	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1276645C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15923C>T	11.37:g.1276645C>T	ENSP00000436812:p.Pro5308Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P5308L	p.P5311L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	37	15990	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5308					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15932C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663962	0.14710	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.79033	-1.23;-1.23	3.48	2.55	0.30701	.	.	.	.	.	D	0.88032	0.6328	M	0.92833	3.35	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.973	T	0.76181	-0.3053	9	0.87932	D	0	.	5.1682	0.15096	0.2086:0.6759:0.0:0.1155	.	5645;5311	A7Y9J9;E9PBJ0	.;.	L	5308;5311;5252;207;5020	ENSP00000436812:P5308L;ENSP00000415793:P5311L	ENSP00000343037:P5252L	P	+	2	0	MUC5B	1233221	0.002000	0.14202	0.019000	0.16419	0.041000	0.13682	1.368000	0.34216	1.868000	0.54150	0.448000	0.29417	CCG		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	11	0	0	0	1	0	5	11				
SPATA22	84690	broad.mit.edu	37	17	3365871	3365871	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:3365871G>T	ENST00000573128.1	-	5	718	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	SPATA22_ENST00000541913.1_Splice_Site_p.Q63K|SPATA22_ENST00000397168.3_Splice_Site_p.Q79K|SPATA22_ENST00000575375.1_Splice_Site_p.Q79K|SPATA22_ENST00000572969.1_Splice_Site_p.Q79K|SPATA22_ENST00000355380.4_Splice_Site_p.Q36K|SPATA22_ENST00000268981.5_Splice_Site_p.Q79K			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	79					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TGTGGTATTTGCCTTTCAAGG	0.353																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.e5-1		spermatogenesis associated 22							107.0	110.0	109.0					17																	3365871		2203	4300	6503	SO:0001630	splice_region_variant	84690							g.chr17:3365871G>T	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.234-1C>A	17.37:g.3365871G>T						SPATA22_ENST00000355380.4_Splice_Site_p.Q36_splice|SPATA22_ENST00000541913.1_Splice_Site_p.Q63_splice|SPATA22_ENST00000397168.3_Splice_Site_p.Q79_splice|SPATA22_ENST00000572969.1_Splice_Site_p.Q79_splice|SPATA22_ENST00000268981.5_Splice_Site_p.Q79_splice|SPATA22_ENST00000575375.1_Splice_Site_p.Q79_splice	p.Q79_splice			Q8NHS9	SPT22_HUMAN			5	718	-			79					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Splice_Site	SNP	ENST00000573128.1	37	c.233_splice	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	14.87	2.664566	0.47572	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.18338	2.22;2.35;2.26;2.23	4.95	3.96	0.45880	.	0.116735	0.39210	N	0.001440	T	0.14056	0.0340	L	0.32530	0.975	0.27391	N	0.955123	P;P;P;B	0.40731	0.728;0.557;0.728;0.341	B;B;B;B	0.39258	0.282;0.295;0.282;0.109	T	0.06917	-1.0800	10	0.48119	T	0.1	-15.1953	11.8646	0.52486	0.0:0.1773:0.8227:0.0	.	63;79;36;79	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	K	36;79;79;63	ENSP00000347541:Q36K;ENSP00000380354:Q79K;ENSP00000268981:Q79K;ENSP00000441920:Q63K	ENSP00000268981:Q79K	Q	-	1	0	SPATA22	3312621	1.000000	0.71417	0.842000	0.33263	0.992000	0.81027	2.208000	0.42797	1.361000	0.45981	0.650000	0.86243	CAA		0.353	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598	Missense_Mutation	26	73	1	0	9.57634e-11	1	1.02293e-10	26	73				
RASGRP1	10125	broad.mit.edu	37	15	38808409	38808409	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:38808409G>A	ENST00000310803.5	-	6	841	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RASGRP1_ENST00000559830.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R222W|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R174W|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R273W	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	222	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GATATCCTCCGGAAAGACTTG	0.448																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(664-666)Cgg>Tgg		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							136.0	126.0	129.0					15																	38808409		1870	4096	5966	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38808409G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.664C>T	15.37:g.38808409G>A	ENSP00000310244:p.Arg222Trp					RASGRP1_ENST00000450598.2_Missense_Mutation_p.R222W|RASGRP1_ENST00000559830.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R174W|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R273W	p.R222W	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	6	841	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	222			Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.664C>T	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859325	0.51376	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.03	5.03	0.67393	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.063520	0.64402	D	0.000004	T	0.63570	0.2522	M	0.85197	2.74	0.53005	D	0.999966	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.76071	0.94;0.987;0.987;0.983	T	0.68017	-0.5520	10	0.66056	D	0.02	-16.6263	14.7643	0.69626	0.0:0.0:0.8468:0.1532	.	222;222;222;222	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	W	222;222;222;222;174;222;222	ENSP00000310244:R222W;ENSP00000388540:R222W;ENSP00000444762:R174W;ENSP00000413105:R222W	ENSP00000310244:R222W	R	-	1	2	RASGRP1	36595701	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	3.053000	0.49901	2.778000	0.95560	0.655000	0.94253	CGG		0.448	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		7	60	0	0	0	1	0	7	60				
RECK	8434	broad.mit.edu	37	9	36100388	36100388	+	Missense_Mutation	SNP	G	G	T	rs144037912	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:36100388G>T	ENST00000377966.3	+	11	1712	c.1146G>T	c.(1144-1146)atG>atT	p.M382I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	382					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGAATGACATGAAGTTGTGGG	0.388																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1144-1146)atG>atT		reversion-inducing-cysteine-rich protein with kazal motifs							92.0	81.0	85.0					9																	36100388		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36100388G>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1146G>T	9.37:g.36100388G>T	ENSP00000367202:p.Met382Ile						p.M382I	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		11	1712	+			382					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1146G>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632709	0.47049	.	.	ENSG00000122707	ENST00000377966	T	0.42513	0.97	5.34	5.34	0.76211	.	0.093644	0.64402	D	0.000001	T	0.37293	0.0998	L	0.36672	1.1	0.39059	D	0.960496	B;B	0.15473	0.013;0.013	B;B	0.12837	0.008;0.008	T	0.26360	-1.0105	10	0.66056	D	0.02	-19.4972	16.5337	0.84367	0.0:0.0:1.0:0.0	.	382;382	A8K9D8;O95980	.;RECK_HUMAN	I	382	ENSP00000367202:M382I	ENSP00000367202:M382I	M	+	3	0	RECK	36090388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.760000	0.55235	2.498000	0.84270	0.655000	0.94253	ATG		0.388	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			24	70	1	0	4.47668e-21	1	4.93906e-21	24	70				
GEMIN8	54960	broad.mit.edu	37	X	14027046	14027046	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:14027046G>A	ENST00000380523.4	-	5	1033	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GEMIN8_ENST00000398355.3_Missense_Mutation_p.P239S	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	239					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						AACTTCAGGGGGATGACCGGC	0.557																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(715-717)Ccc>Tcc		gem (nuclear organelle) associated protein 8							74.0	70.0	71.0					X																	14027046		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027046G>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.715C>T	X.37:g.14027046G>A	ENSP00000369895:p.Pro239Ser					GEMIN8_ENST00000398355.3_Missense_Mutation_p.P239S	p.P239S	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			5	1033	-			239					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.715C>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.044710	0.75732	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.69926	-0.44;-0.44	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81899	-0.0721	10	0.87932	D	0	-0.1264	17.2595	0.87066	0.0:0.0:1.0:0.0	.	239	Q9NWZ8	GEMI8_HUMAN	S	239	ENSP00000369895:P239S;ENSP00000381398:P239S	ENSP00000369895:P239S	P	-	1	0	GEMIN8	13936967	1.000000	0.71417	0.959000	0.39883	0.887000	0.51463	9.630000	0.98420	2.288000	0.76882	0.529000	0.55759	CCC		0.557	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		13	119	0	0	0	1	0	13	119				
CALCA	796	broad.mit.edu	37	11	14991582	14991582	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:14991582G>A	ENST00000486207.1	-	2	134	c.126C>T	c.(124-126)ctC>ctT	p.L42L	CALCA_ENST00000359642.3_Silent_p.L42L|CALCA_ENST00000396372.2_Silent_p.L42L|CALCA_ENST00000331587.4_Silent_p.L42L|CALCA_ENST00000361010.3_Silent_p.L42L|CALCB_ENST00000523376.1_Intron			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	42					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CGTCCTCACTGAGCGTGGCCG	0.637											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361010.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(124-126)ctC>ctT		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						39.0	39.0	39.0					11																	14991582		2200	4294	6494	SO:0001819	synonymous_variant	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14991582G>A	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.126C>T	11.37:g.14991582G>A			OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	699	CALCA_ENST00000359642.3_Silent_p.L42L|CALCA_ENST00000396372.2_Silent_p.L42L|CALCA_ENST00000331587.4_Silent_p.L42L|CALCA_ENST00000486207.1_Silent_p.L42L|CALCB_ENST00000523376.1_Intron	p.L42L	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN			3	200	-			42					Q93048|Q9UCP0	Silent	SNP	ENST00000486207.1	37	c.126C>T	CCDS31432.1																																																																																				0.637	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		7	34	0	0	0	1	0	7	34				
CNGA3	1261	broad.mit.edu	37	2	99006124	99006124	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:99006124G>C	ENST00000272602.2	+	5	492	c.453G>C	c.(451-453)aaG>aaC	p.K151N	CNGA3_ENST00000436404.2_Missense_Mutation_p.K133N|CNGA3_ENST00000409937.1_Missense_Mutation_p.K155N|CNGA3_ENST00000393504.1_Missense_Mutation_p.K151N			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	151					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTCCAGGAAGAAGACGAAAA	0.527																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(451-453)aaG>aaC		cyclic nucleotide gated channel alpha 3							181.0	172.0	175.0					2																	99006124		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99006124G>C	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.453G>C	2.37:g.99006124G>C	ENSP00000272602:p.Lys151Asn					CNGA3_ENST00000436404.2_Missense_Mutation_p.K133N|CNGA3_ENST00000409937.1_Missense_Mutation_p.K155N|CNGA3_ENST00000272602.2_Missense_Mutation_p.K151N	p.K151N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			6	870	+			151					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.453G>C	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414953	0.42817	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97850	-4.49;-4.3;-4.49;-4.57	4.2	3.3	0.37823	.	0.611431	0.14301	U	0.328254	D	0.92344	0.7571	N	0.21448	0.665	0.39327	D	0.965356	P;B;B	0.34462	0.454;0.242;0.002	B;B;B	0.24701	0.055;0.033;0.005	D	0.89048	0.3453	10	0.29301	T	0.29	.	7.3714	0.26804	0.0957:0.1742:0.7301:0.0	.	155;133;151	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	N	151;133;151;155	ENSP00000377140:K151N;ENSP00000410070:K133N;ENSP00000272602:K151N;ENSP00000386761:K155N	ENSP00000272602:K151N	K	+	3	2	CNGA3	98372556	1.000000	0.71417	0.820000	0.32676	0.346000	0.29079	3.035000	0.49759	0.926000	0.37118	0.561000	0.74099	AAG		0.527	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		24	242	0	0	0	1	0	24	242				
KCTD3	51133	broad.mit.edu	37	1	215777532	215777532	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:215777532G>A	ENST00000259154.4	+	13	1491	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	399					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAGTACGAGTGATTGTACAAC	0.458																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1195-1197)gtG>gtA		potassium channel tetramerization domain containing 3							143.0	136.0	138.0					1																	215777532		2203	4300	6503	SO:0001819	synonymous_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215777532G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1197G>A	1.37:g.215777532G>A							p.V399V	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	13	1491	+			399					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	c.1197G>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697824	0.30142	.	.	ENSG00000136636	ENST00000452413	.	.	.	6.17	-2.24	0.06909	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	-26.1638	3.3821	0.07259	0.1863:0.3043:0.4052:0.1041	.	.	.	.	N	31	.	.	D	+	1	0	KCTD3	213844155	0.998000	0.40836	0.978000	0.43139	0.998000	0.95712	0.421000	0.21280	-0.065000	0.13021	0.655000	0.94253	GAT		0.458	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		17	79	0	0	0	1	0	17	79				
AGTR1	185	broad.mit.edu	37	3	148458871	148458871	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:148458871G>A	ENST00000497524.1	+	2	440	c.49G>A	c.(49-51)Gat>Aat	p.D17N	AGTR1_ENST00000475347.1_Missense_Mutation_p.D17N|AGTR1_ENST00000418473.2_Missense_Mutation_p.D17N|AGTR1_ENST00000349243.3_Missense_Mutation_p.D17N|AGTR1_ENST00000402260.1_Missense_Mutation_p.D17N|AGTR1_ENST00000404754.2_Missense_Mutation_p.D17N|AGTR1_ENST00000461609.1_Missense_Mutation_p.D17N|AGTR1_ENST00000474935.1_Missense_Mutation_p.D17N|AGTR1_ENST00000542281.1_Missense_Mutation_p.D17N	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	17					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AATCCAAGATGATTGTCCCAA	0.368																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(49-51)Gat>Aat		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						83.0	83.0	83.0					3																	148458871		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148458871G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.49G>A	3.37:g.148458871G>A	ENSP00000419422:p.Asp17Asn					AGTR1_ENST00000404754.2_Missense_Mutation_p.D17N|AGTR1_ENST00000461609.1_Missense_Mutation_p.D17N|AGTR1_ENST00000349243.3_Missense_Mutation_p.D17N|AGTR1_ENST00000418473.2_Missense_Mutation_p.D17N|AGTR1_ENST00000475347.1_Missense_Mutation_p.D17N|AGTR1_ENST00000497524.1_Missense_Mutation_p.D17N|AGTR1_ENST00000402260.1_Missense_Mutation_p.D17N|AGTR1_ENST00000474935.1_Missense_Mutation_p.D17N	p.D17N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	495	+			17					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.49G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037331	0.35989	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.33	5.33	0.75918	.	0.299915	0.36628	N	0.002483	T	0.40791	0.1131	N	0.17082	0.46	0.38823	D	0.955676	B	0.06786	0.001	B	0.06405	0.002	T	0.29058	-1.0024	10	0.33940	T	0.23	-18.7725	12.5179	0.56042	0.0758:0.0:0.9242:0.0	.	17	P30556	AGTR1_HUMAN	N	17	ENSP00000419422:D17N;ENSP00000273430:D17N;ENSP00000443186:D17N;ENSP00000398832:D17N;ENSP00000385612:D17N;ENSP00000419783:D17N;ENSP00000418084:D17N;ENSP00000418851:D17N;ENSP00000385641:D17N	ENSP00000273430:D17N	D	+	1	0	AGTR1	149941561	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.888000	0.56204	2.766000	0.95052	0.650000	0.86243	GAT		0.368	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			17	70	0	0	0	1	0	17	70				
GP6	51206	broad.mit.edu	37	19	55525965	55525965	+	3'UTR	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:55525965C>T	ENST00000417454.1	-	0	1371				GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.A450T|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCGTCTGGAGCCCATATTAGA	0.542																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1348-1350)Gct>Act		glycoprotein VI (platelet)							91.0	98.0	96.0					19																	55525965		1938	4133	6071	SO:0001624	3_prime_UTR_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55525965C>T	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*324G>A	19.37:g.55525965C>T						GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR	p.A450T	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	8	1375	-			68					Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.1348G>A	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516479	0.44763	.	.	ENSG00000088053	ENST00000310373	T	0.00554	6.64	1.98	1.98	0.26296	.	.	.	.	.	T	0.00724	0.0024	.	.	.	0.20074	N	0.999932	P	0.44659	0.84	P	0.47744	0.556	T	0.54866	-0.8229	8	0.87932	D	0	.	7.4732	0.27361	0.0:1.0:0.0:0.0	.	450	Q9HCN6-3	.	T	450	ENSP00000308782:A450T	ENSP00000308782:A450T	A	-	1	0	GP6	60217777	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	0.129000	0.15830	1.415000	0.47037	0.561000	0.74099	GCT		0.542	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			6	28	0	0	0	1	0	6	28				
TAF1	6872	broad.mit.edu	37	X	70613190	70613190	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:70613190C>T	ENST00000373790.4	+	21	3139	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	TAF1_ENST00000449580.1_Missense_Mutation_p.R1030C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1051C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1051C	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1030					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGATGTGGTGCGCACAATGTC	0.458																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3088-3090)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							125.0	114.0	118.0					X																	70613190		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613190C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3088C>T	X.37:g.70613190C>T	ENSP00000362895:p.Arg1030Cys					TAF1_ENST00000423759.1_Missense_Mutation_p.R1051C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1051C|TAF1_ENST00000373790.4_Missense_Mutation_p.R1030C	p.R1030C			P21675	TAF1_HUMAN			21	3139	+	Renal(35;0.156)	all_lung(315;0.000321)	1030					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3088C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.326523	0.81690	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.26810	1.75;1.85;1.76;1.71	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65429	-0.6170	10	0.87932	D	0	.	18.4528	0.90710	0.0:1.0:0.0:0.0	.	1030;1030;1051	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	C	1030;1030;1051;1051	ENSP00000362895:R1030C;ENSP00000389000:R1030C;ENSP00000406549:R1051C;ENSP00000276072:R1051C	ENSP00000276072:R1051C	R	+	1	0	TAF1	70529915	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	4.383000	0.59600	2.299000	0.77371	0.600000	0.82982	CGC		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		24	91	0	0	0	1	0	24	91				
DCTN1	1639	broad.mit.edu	37	2	74597184	74597184	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:74597184G>A	ENST00000361874.3	-	13	1617	c.1300C>T	c.(1300-1302)Ctg>Ttg	p.L434L	DCTN1_ENST00000409567.3_Silent_p.L414L|DCTN1_ENST00000409240.1_Silent_p.L397L|DCTN1_ENST00000409868.1_Silent_p.L417L|DCTN1_ENST00000407639.2_Silent_p.L300L|DCTN1_ENST00000394003.3_Silent_p.L427L|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Silent_p.L300L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	434					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.L434V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGCACCCAGAGCAGCATCC	0.542																																						ENST00000361874.3																			1	Substitution - Missense(1)	p.L434V(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1300-1302)Ctg>Ttg		dynactin 1							138.0	117.0	124.0					2																	74597184		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597184G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1300C>T	2.37:g.74597184G>A						DCTN1_ENST00000409438.1_Silent_p.L300L|DCTN1_ENST00000409567.3_Silent_p.L414L|DCTN1_ENST00000409868.1_Silent_p.L417L|DCTN1_ENST00000394003.3_Silent_p.L427L|DCTN1_ENST00000409240.1_Silent_p.L397L|DCTN1_ENST00000407639.2_Silent_p.L300L	p.L434L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			13	1617	-			434					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.1300C>T	CCDS1939.1																																																																																				0.542	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		25	89	0	0	0	1	0	25	89				
KIAA1143	57456	broad.mit.edu	37	3	44795848	44795848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:44795848G>A	ENST00000296121.4	-	2	180	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	41								p.Q41K(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTGGGGGCTGAGGCTGAATT	0.408																																						ENST00000296121.4																			1	Substitution - Missense(1)	p.Q41K(1)	breast(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(121-123)Cag>Tag		KIAA1143							85.0	84.0	85.0					3																	44795848		2203	4300	6503	SO:0001587	stop_gained	57456							g.chr3:44795848G>A	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.121C>T	3.37:g.44795848G>A	ENSP00000296121:p.Gln41*					KIAA1143_ENST00000484437.1_5'UTR	p.Q41*	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	2	180	-			41					A8K0I4|Q96HJ8|Q9ULS7	Nonsense_Mutation	SNP	ENST00000296121.4	37	c.121C>T	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825044	0.90955	.	.	ENSG00000163807	ENST00000296121	.	.	.	5.63	4.73	0.59995	.	0.102992	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.2713	15.0284	0.71687	0.0:0.1407:0.8593:0.0	.	.	.	.	X	41	.	ENSP00000296121:Q41X	Q	-	1	0	KIAA1143	44770852	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.299000	0.59073	2.652000	0.90054	0.655000	0.94253	CAG		0.408	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		8	106	0	0	0	1	0	8	106				
USP26	83844	broad.mit.edu	37	X	132159687	132159687	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:132159687C>A	ENST00000511190.1	-	6	3031	c.2562G>T	c.(2560-2562)tgG>tgT	p.W854C	USP26_ENST00000370832.1_Missense_Mutation_p.W854C|USP26_ENST00000406273.1_Missense_Mutation_p.W854C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	854	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CGTAAGTGAACCAGATCTGTT	0.453																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2560-2562)tgG>tgT		ubiquitin specific peptidase 26							154.0	129.0	137.0					X																	132159687		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159687C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2562G>T	X.37:g.132159687C>A	ENSP00000423390:p.Trp854Cys					USP26_ENST00000406273.1_Missense_Mutation_p.W854C|USP26_ENST00000370832.1_Missense_Mutation_p.W854C	p.W854C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	3031	-	Acute lymphoblastic leukemia(192;0.000127)		854					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2562G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003052	0.54254	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	D;D;D	0.92299	-3.01;-3.01;-3.01	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.34200	N	0.004161	D	0.95227	0.8452	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95462	0.8544	10	0.87932	D	0	-6.9339	12.8624	0.57922	0.0:1.0:0.0:0.0	.	854	Q9BXU7	UBP26_HUMAN	C	854	ENSP00000359869:W854C;ENSP00000423390:W854C;ENSP00000384360:W854C	ENSP00000359869:W854C	W	-	3	0	USP26	131987353	1.000000	0.71417	0.929000	0.37066	0.560000	0.35617	6.469000	0.73555	2.193000	0.70182	0.513000	0.50165	TGG		0.453	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		45	119	1	0	1.23713e-20	1	1.35853e-20	45	119				
CARD8	22900	broad.mit.edu	37	19	48715113	48715113	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:48715113C>G	ENST00000359009.4	-	10	1462	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000357778.5_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.E440Q|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000391898.3_Missense_Mutation_p.E490Q|CARD8_ENST00000521613.1_Missense_Mutation_p.E440Q|CARD8_ENST00000519940.1_Missense_Mutation_p.E490Q|CARD8_ENST00000447740.2_Missense_Mutation_p.E440Q			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	384	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTTTCCTGCTCCACCAGCTCC	0.542																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(1468-1470)Gag>Cag		caspase recruitment domain family, member 8							261.0	244.0	250.0					19																	48715113		2203	4300	6503	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48715113C>G	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1150G>C	19.37:g.48715113C>G	ENSP00000351901:p.Glu384Gln					CARD8_ENST00000521613.1_Missense_Mutation_p.E440Q|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.E440Q|CARD8_ENST00000519940.1_Missense_Mutation_p.E490Q|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.E440Q|CARD8_ENST00000359009.4_Missense_Mutation_p.E384Q|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_Intron|CTC-453G23.8_ENST00000595201.1_RNA	p.E490Q	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	11	1510	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	384					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.1468G>C		.	.	.	.	.	.	.	.	.	.	C	13.91	2.378861	0.42207	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520153;ENST00000521613;ENST00000519940	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	2.01	-0.285	0.12866	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.08537	0.0212	N	0.10874	0.06	0.21416	N	0.999695	B;B;B;B	0.33883	0.114;0.43;0.23;0.114	B;B;B;B	0.28916	0.054;0.096;0.032;0.031	T	0.26224	-1.0109	9	0.39692	T	0.17	.	4.0494	0.09788	0.2701:0.4652:0.2647:0.0	.	409;490;440;384	B5KVR7;E9PEM7;G3XAM9;Q9Y2G2	.;.;.;CARD8_HUMAN	Q	440;490;384;440;440;490	ENSP00000391248:E440Q;ENSP00000375767:E490Q;ENSP00000351901:E384Q;ENSP00000428736:E440Q;ENSP00000427858:E440Q;ENSP00000428883:E490Q	ENSP00000351901:E384Q	E	-	1	0	CARD8	53406925	0.429000	0.25530	0.827000	0.32855	0.922000	0.55478	-0.512000	0.06313	-0.011000	0.14247	0.591000	0.81541	GAG		0.542	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		19	222	0	0	0	1	0	19	222				
MAP2	4133	broad.mit.edu	37	2	210561334	210561334	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:210561334G>C	ENST00000360351.4	+	8	4755	c.4249G>C	c.(4249-4251)Gct>Cct	p.A1417P	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1413P|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1417					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGAAAAGGAAGCTCGGAGATC	0.388																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4249-4251)Gct>Cct		microtubule-associated protein 2	Estramustine(DB01196)						68.0	74.0	72.0					2																	210561334		2203	4299	6502	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210561334G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4249G>C	2.37:g.210561334G>C	ENSP00000353508:p.Ala1417Pro					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1413P	p.A1417P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	8	4755	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1417					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4249G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458611	0.26248	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26373	1.74;1.74	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.249520	0.29369	N	0.012342	T	0.39600	0.1084	L	0.47716	1.5	0.28970	N	0.889286	D;B	0.63880	0.993;0.078	P;B	0.61132	0.884;0.109	T	0.24657	-1.0154	10	0.51188	T	0.08	-7.6962	12.7858	0.57504	0.0:0.0:0.7272:0.2728	.	1413;1417	P11137-3;P11137	.;MAP2_HUMAN	P	1417;1413	ENSP00000353508:A1417P;ENSP00000392164:A1413P	ENSP00000353508:A1417P	A	+	1	0	MAP2	210269579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.738000	0.38207	2.673000	0.90976	0.650000	0.86243	GCT		0.388	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		7	93	0	0	0	1	0	7	93				
PITPNM3	83394	broad.mit.edu	37	17	6377809	6377809	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:6377809C>T	ENST00000262483.8	-	10	1288	c.1201G>A	c.(1201-1203)Ggc>Agc	p.G401S	PITPNM3_ENST00000576664.1_5'Flank|PITPNM3_ENST00000421306.3_Missense_Mutation_p.G365S	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	401	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGTGGCGAGCCGAAGAGGAAG	0.672																																						ENST00000262483.8																			0											c.(1201-1203)Ggc>Agc									41.0	35.0	37.0					17																	6377809		2200	4299	6499	SO:0001583	missense	83394							g.chr17:6377809C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1201G>A	17.37:g.6377809C>T	ENSP00000262483:p.Gly401Ser					ACKR6_ENST00000421306.3_Missense_Mutation_p.G365S	p.G401S	NM_031220.3	NP_112497.2					10	1288	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1201G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714502	0.96830	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.78481	-1.18;-1.17	5.13	5.13	0.70059	DDHD (2);	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.85945	2.785	0.80722	D	1	D;P	0.60160	0.987;0.867	P;B	0.48368	0.575;0.4	D	0.87469	0.2413	10	0.87932	D	0	-21.7622	16.0675	0.80893	0.0:1.0:0.0:0.0	.	365;401	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	401;365	ENSP00000262483:G401S;ENSP00000407882:G365S	ENSP00000262483:G401S	G	-	1	0	PITPNM3	6318533	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	7.264000	0.78432	2.377000	0.81083	0.563000	0.77884	GGC		0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		5	20	0	0	0	1	0	5	20				
SQRDL	58472	broad.mit.edu	37	15	45954317	45954317	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:45954317C>T	ENST00000260324.7	+	3	785	c.399C>T	c.(397-399)gaC>gaT	p.D133D	RP11-96O20.4_ENST00000564080.1_Silent_p.D133D|SQRDL_ENST00000568606.1_Silent_p.D133D	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	133					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CAGATGACGACGAGAAGGTAA	0.443																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(397-399)gaC>gaT		sulfide quinone reductase-like (yeast)							101.0	90.0	93.0					15																	45954317		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45954317C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.399C>T	15.37:g.45954317C>T						RP11-96O20.4_ENST00000564080.1_Silent_p.D133D|SQRDL_ENST00000568606.1_Silent_p.D133D	p.D133D	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	3	785	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	133					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.399C>T	CCDS10127.1																																																																																				0.443	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			13	72	0	0	0	1	0	13	72				
CTNNA2	1496	broad.mit.edu	37	2	80136803	80136803	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:80136803C>T	ENST00000402739.4	+	6	941	c.936C>T	c.(934-936)agC>agT	p.S312S	CTNNA2_ENST00000541047.1_Silent_p.S312S|CTNNA2_ENST00000496558.1_Silent_p.S312S|CTNNA2_ENST00000540488.1_Silent_p.S312S|CTNNA2_ENST00000361291.4_Silent_p.S346S|CTNNA2_ENST00000466387.1_Silent_p.S312S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	312					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCATCATCAGCGGCGCAGCGC	0.642																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(934-936)agC>agT		catenin (cadherin-associated protein), alpha 2							49.0	56.0	53.0					2																	80136803		2004	4184	6188	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136803C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.936C>T	2.37:g.80136803C>T						CTNNA2_ENST00000541047.1_Silent_p.S312S|CTNNA2_ENST00000361291.4_Silent_p.S346S|CTNNA2_ENST00000402739.4_Silent_p.S312S|CTNNA2_ENST00000540488.1_Silent_p.S312S|CTNNA2_ENST00000496558.1_Silent_p.S312S	p.S312S			P26232	CTNA2_HUMAN			11	1660	+			312					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.936C>T																																																																																					0.642	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		18	77	0	0	0	1	0	18	77				
HNF1A	6927	broad.mit.edu	37	12	121435467	121435467	+	Splice_Site	SNP	C	C	T	rs201694197		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:121435467C>T	ENST00000257555.6	+	7	1726	c.1500C>T	c.(1498-1500)caC>caT	p.H500H	HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000538626.1_Silent_p.H82H|HNF1A_ENST00000544413.1_Splice_Site_p.H500H|HNF1A_ENST00000400024.2_Silent_p.H500H|HNF1A_ENST00000541395.1_Splice_Site_p.H500H|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	500					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGCCCCCACGGTGAGCGCC	0.627									Hepatic Adenoma, Familial Clustering of				c|||	1	0.000199681	0.0	0.0014	5008	,	,		18173	0.0		0.0	False		,,,				2504	0.0					ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.e7+1		HNF1 homeobox A		C		0,4404		0,0,2202	21.0	20.0	20.0		1500	-3.7	0.9	12		20	1,8597		0,1,4298	no	coding-synonymous-near-splice	HNF1A	NM_000545.5		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		500/632	121435467	1,13001	2202	4299	6501	SO:0001630	splice_region_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121435467C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1501+1C>T	12.37:g.121435467C>T						HNF1A_ENST00000544413.1_Splice_Site_p.H500_splice|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Silent_p.H500H|HNF1A_ENST00000541395.1_Splice_Site_p.H500_splice|HNF1A_ENST00000538626.1_Silent_p.H82H	p.H500_splice			P20823	HNF1A_HUMAN			7	1726	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		500					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Splice_Site	SNP	ENST00000257555.6	37	c.1501_splice	CCDS9209.1																																																																																				0.627	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	Silent	3	19	0	0	0	1	0	3	19				
NFKB1	4790	broad.mit.edu	37	4	103534694	103534694	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:103534694C>A	ENST00000505458.1	+	23	2979	c.2702C>A	c.(2701-2703)gCc>gAc	p.A901D	NFKB1_ENST00000226574.4_Missense_Mutation_p.A902D|NFKB1_ENST00000394820.4_Missense_Mutation_p.A901D|NFKB1_ENST00000600343.1_Missense_Mutation_p.A721D			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	901	Interaction with CFLAR.		A -> T (in dbSNP:rs4648118). {ECO:0000269|Ref.8}.		apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	ACCTCTCAGGCCCACTCGCTG	0.542																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2704-2706)gCc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						57.0	45.0	49.0					4																	103534694		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103534694C>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2702C>A	4.37:g.103534694C>A	ENSP00000424790:p.Ala901Asp					NFKB1_ENST00000600343.1_Missense_Mutation_p.A721D|NFKB1_ENST00000394820.4_Missense_Mutation_p.A901D|NFKB1_ENST00000505458.1_Missense_Mutation_p.A901D	p.A902D	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	23	3172	+		Hepatocellular(203;0.217)	901			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2705C>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624293	0.28889	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.38240	1.16;1.15;1.15	5.17	0.783	0.18572	Ankyrin repeat-containing domain (1);	0.847496	0.10016	N	0.726627	T	0.22044	0.0531	N	0.24115	0.695	0.09310	N	1	B;B;B	0.26258	0.09;0.09;0.145	B;B;B	0.25759	0.047;0.029;0.063	T	0.28138	-1.0053	10	0.11794	T	0.64	-1.7089	10.0178	0.42024	0.0:0.6632:0.0:0.3368	.	721;901;902	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	D	902;901;901	ENSP00000226574:A902D;ENSP00000378297:A901D;ENSP00000424790:A901D	ENSP00000226574:A902D	A	+	2	0	NFKB1	103753740	0.019000	0.18553	0.087000	0.20705	0.091000	0.18340	0.072000	0.14617	0.172000	0.19760	0.650000	0.86243	GCC		0.542	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			10	42	1	0	4.68919e-08	1	4.91946e-08	10	42				
RPRD2	23248	broad.mit.edu	37	1	150443841	150443841	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:150443841G>C	ENST00000369068.4	+	11	2421	c.2417G>C	c.(2416-2418)gGa>gCa	p.G806A	RPRD2_ENST00000401000.4_Missense_Mutation_p.G780A|RPRD2_ENST00000539519.1_Missense_Mutation_p.G780A|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	806	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTTCTGATGGAATGGAGAGA	0.458																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2338-2340)gGa>gCa		regulation of nuclear pre-mRNA domain containing 2							71.0	65.0	67.0					1																	150443841		1870	4104	5974	SO:0001583	missense	23248						protein binding	g.chr1:150443841G>C	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2417G>C	1.37:g.150443841G>C	ENSP00000358064:p.Gly806Ala					RPRD2_ENST00000369068.4_Missense_Mutation_p.G806A|RPRD2_ENST00000539519.1_Missense_Mutation_p.G780A|RPRD2_ENST00000492220.1_3'UTR	p.G780A			Q5VT52	RPRD2_HUMAN			10	2404	+			806			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2339G>C	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164996	0.21538	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.43688	0.94;0.94;0.94	5.0	4.08	0.47627	.	0.315781	0.30419	N	0.009661	T	0.11495	0.0280	N	0.12182	0.205	0.24096	N	0.995891	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.09377	0.001;0.002;0.004	T	0.15867	-1.0422	10	0.26408	T	0.33	-4.9769	15.7721	0.78176	0.0:0.1363:0.8637:0.0	.	780;806;780	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	A	780;780;806	ENSP00000383785:G780A;ENSP00000445482:G780A;ENSP00000358064:G806A	ENSP00000358064:G806A	G	+	2	0	RPRD2	148710465	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	2.203000	0.42752	1.314000	0.45095	0.650000	0.86243	GGA		0.458	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		14	43	0	0	0	1	0	14	43				
ZNF763	284390	broad.mit.edu	37	19	12089301	12089301	+	Missense_Mutation	SNP	C	C	G	rs371555033		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:12089301C>G	ENST00000358987.3	+	4	689	c.562C>G	c.(562-564)Cga>Gga	p.R188G	ZNF763_ENST00000590798.1_Missense_Mutation_p.R208G|ZNF763_ENST00000545530.1_Missense_Mutation_p.R66G|ZNF763_ENST00000538752.1_Missense_Mutation_p.R208G|ZNF763_ENST00000343949.5_Missense_Mutation_p.R191G			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTCAGGCATTCGAAGACGCAT	0.403																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(571-573)Cga>Gga		zinc finger protein 763							119.0	121.0	120.0					19																	12089301		2203	4300	6503	SO:0001583	missense	284390							g.chr19:12089301C>G	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.562C>G	19.37:g.12089301C>G	ENSP00000402017:p.Arg188Gly					ZNF763_ENST00000538752.1_Missense_Mutation_p.R208G|ZNF763_ENST00000590798.1_Missense_Mutation_p.R208G|ZNF763_ENST00000358987.3_Missense_Mutation_p.R188G|ZNF763_ENST00000545530.1_Missense_Mutation_p.R66G	p.R191G	NM_001012753.1	NP_001012771.1					4	726	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.571C>G		.	.	.	.	.	.	.	.	.	.	c	7.188	0.590918	0.13812	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	1.4	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	M	0.75884	2.315	0.09310	N	1	B;P;B	0.36282	0.275;0.546;0.027	B;B;B	0.30105	0.057;0.111;0.027	T	0.27806	-1.0063	9	0.52906	T	0.07	.	0.4278	0.00466	0.2361:0.3264:0.235:0.2025	.	208;188;191	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	G	208;191;66;188	ENSP00000438117:R208G;ENSP00000369774:R191G;ENSP00000446166:R66G;ENSP00000402017:R188G	ENSP00000369774:R191G	R	+	1	2	ZNF763	11950301	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.193000	0.09573	-0.100000	0.12241	0.195000	0.17529	CGA		0.403	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		22	166	0	0	0	1	0	22	166				
ANKRD11	29123	broad.mit.edu	37	16	89341312	89341312	+	Silent	SNP	C	C	T	rs190789698		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:89341312C>T	ENST00000301030.4	-	11	8083	c.7623G>A	c.(7621-7623)gcG>gcA	p.A2541A	ANKRD11_ENST00000378330.2_Silent_p.A2541A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2541					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGTCCTGGCCGCCCGGCAGT	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17526	0.0		0.0	False		,,,				2504	0.0					ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7621-7623)gcG>gcA		ankyrin repeat domain 11							60.0	57.0	58.0					16																	89341312		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341312C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7623G>A	16.37:g.89341312C>T						ANKRD11_ENST00000378330.2_Silent_p.A2541A	p.A2541A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8083	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2541					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7623G>A	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		18	54	0	0	0	1	0	18	54				
MAGEA3	4102	broad.mit.edu	37	X	151935644	151935644	+	Missense_Mutation	SNP	A	A	C	rs35845634		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:151935644A>C	ENST00000393902.3	-	3	1090	c.523T>G	c.(523-525)Ttg>Gtg	p.L175V	MAGEA3_ENST00000370278.3_Missense_Mutation_p.L175V			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	175	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGTACAAGTGGCCGATG	0.532																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(523-525)Ttg>Gtg		melanoma antigen family A, 3							111.0	104.0	106.0					X																	151935644		2202	4293	6495	SO:0001583	missense	4102							g.chrX:151935644A>C		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.523T>G	X.37:g.151935644A>C	ENSP00000377480:p.Leu175Val					MAGEA3_ENST00000370278.3_Missense_Mutation_p.L175V	p.L175V			P43357	MAGA3_HUMAN			3	1090	-	Acute lymphoblastic leukemia(192;6.56e-05)		175			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.523T>G	CCDS14715.1	31	0.018685955394816153	6	0.012195121951219513	3	0.008287292817679558	5	0.008741258741258742	18	0.023746701846965697	N	0.048	-1.258055	0.01457	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.04317	3.65;3.65;3.65	1.07	-2.13	0.07144	.	2.721290	0.00848	N	0.001812	T	0.02767	0.0083	L	0.39397	1.21	0.80722	P	0.0	B	0.29270	0.24	B	0.40702	0.338	T	0.34502	-0.9826	9	0.17369	T	0.5	.	1.94	0.03345	0.3906:0.3056:0.0:0.3038	rs35845634	175	P43357	MAGA3_HUMAN	V	175	ENSP00000359301:L175V;ENSP00000377480:L175V;ENSP00000392758:L175V	ENSP00000359301:L175V	L	-	1	2	MAGEA3	151686300	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.479000	0.02327	-0.934000	0.03733	-0.848000	0.03037	TTG		0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		30	180	0	0	0	1	0	30	180				
NLRC4	58484	broad.mit.edu	37	2	32474719	32474719	+	Silent	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:32474719C>A	ENST00000404025.2	-	5	2702	c.2214G>T	c.(2212-2214)ctG>ctT	p.L738L	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.L738L|NLRC4_ENST00000402280.1_Silent_p.L738L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	738					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCAAGGTTTTCAGGTTTGTTA	0.408																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2212-2214)ctG>ctT		NLR family, CARD domain containing 4							197.0	194.0	195.0					2																	32474719		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474719C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2214G>T	2.37:g.32474719C>A						NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L738L|NLRC4_ENST00000360906.5_Silent_p.L738L	p.L738L			Q9NPP4	NLRC4_HUMAN			5	2702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		738					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2214G>T	CCDS33174.1																																																																																				0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		37	309	1	0	2.05212e-20	1	2.24301e-20	37	309				
FAM155A	728215	broad.mit.edu	37	13	108518288	108518288	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr13:108518288C>T	ENST00000375915.2	-	1	795	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTAAAAATCCGACAAGTTCC	0.577																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(655-657)tcG>tcA		family with sequence similarity 155, member A							88.0	98.0	95.0					13																	108518288		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518288C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.657G>A	13.37:g.108518288C>T							p.S219S	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	795	-			219					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.657G>A	CCDS32006.1																																																																																				0.577	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		20	73	0	0	0	1	0	20	73				
GLUD1	2746	broad.mit.edu	37	10	88822525	88822525	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:88822525G>C	ENST00000277865.4	-	6	905	c.809C>G	c.(808-810)tCt>tGt	p.S270C	GLUD1_ENST00000465164.1_5'Flank|GLUD1_ENST00000537649.1_Missense_Mutation_p.S103C|GLUD1_ENST00000544149.1_Missense_Mutation_p.S137C	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	270			S -> C (in HHF6; diminished sensitivity to GTP). {ECO:0000269|PubMed:11297618}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GCCAGTAGCAGAGATGCGTCC	0.433																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22	GRCh37	CM004843	GLUD1	M		c.(808-810)tCt>tGt		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						73.0	63.0	67.0					10																	88822525		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88822525G>C	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.809C>G	10.37:g.88822525G>C	ENSP00000277865:p.Ser270Cys					GLUD1_ENST00000544149.1_Missense_Mutation_p.S137C|GLUD1_ENST00000537649.1_Missense_Mutation_p.S103C	p.S270C	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			6	905	-			270		S -> C (in HHF6; diminished sensitivity to GTP).			B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.809C>G	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942701	0.92526	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.95307	-3.67;-3.67;-3.67	5.42	5.42	0.78866	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.98676	1.0690	10	0.72032	D	0.01	-0.511	19.6437	0.95767	0.0:0.0:1.0:0.0	.	137;270	B4DGN5;P00367	.;DHE3_HUMAN	C	270;227;103;202;137	ENSP00000277865:S270C;ENSP00000439291:S103C;ENSP00000444732:S137C	ENSP00000277865:S270C	S	-	2	0	GLUD1	88812505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.863000	0.99569	2.716000	0.92895	0.650000	0.86243	TCT		0.433	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		6	49	0	0	0	1	0	6	49				
ZFAND5	7763	broad.mit.edu	37	9	74975561	74975561	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:74975561C>T	ENST00000237937.3	-	2	691	c.134G>A	c.(133-135)gGc>gAc	p.G45D	ZFAND5_ENST00000376962.5_Missense_Mutation_p.G45D|ZFAND5_ENST00000376960.4_Missense_Mutation_p.G45D|ZFAND5_ENST00000343431.2_Missense_Mutation_p.G45D|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	45					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GCTCATTCTGCCACTATTTTG	0.413																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(133-135)gGc>gAc		zinc finger, AN1-type domain 5							177.0	176.0	177.0					9																	74975561		2203	4299	6502	SO:0001583	missense	7763						DNA binding|zinc ion binding	g.chr9:74975561C>T	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.134G>A	9.37:g.74975561C>T	ENSP00000237937:p.Gly45Asp					ZFAND5_ENST00000376962.5_Missense_Mutation_p.G45D|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.G45D|ZFAND5_ENST00000343431.2_Missense_Mutation_p.G45D	p.G45D	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			2	691	-			45					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.134G>A	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779909	0.49891	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	L	0.43152	1.355	0.58432	D	0.999998	B	0.18461	0.028	B	0.16722	0.016	T	0.51180	-0.8738	9	0.15952	T	0.53	-5.5674	20.5948	0.99439	0.0:1.0:0.0:0.0	.	45	O76080	ZFAN5_HUMAN	D	45;45;45;45;97	.	ENSP00000237937:G45D	G	-	2	0	ZFAND5	74165381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.824000	0.62701	2.873000	0.98535	0.563000	0.77884	GGC		0.413	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			42	222	0	0	0	1	0	42	222				
TMPRSS15	5651	broad.mit.edu	37	21	19737462	19737462	+	Silent	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr21:19737462G>T	ENST00000284885.3	-	7	801	c.768C>A	c.(766-768)atC>atA	p.I256I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	256	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTACCGTATGATCCACTGGC	0.353																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(766-768)atC>atA		transmembrane protease, serine 15							139.0	134.0	136.0					21																	19737462		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19737462G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.768C>A	21.37:g.19737462G>T							p.I256I	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			7	801	-			256			CUB 1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.768C>A	CCDS13571.1																																																																																				0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		9	103	1	0	7.48243e-07	1	7.74613e-07	9	103				
PLIN4	729359	broad.mit.edu	37	19	4511710	4511710	+	Silent	SNP	A	A	G	rs200701465	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:4511710A>G	ENST00000301286.3	-	3	2219	c.2220T>C	c.(2218-2220)acT>acC	p.T740T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	740	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAGACTTTGTAGTGTCCAGGC	0.587																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2218-2220)acT>acC		perilipin 4							104.0	74.0	84.0					19																	4511710		1934	4101	6035	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511710A>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2220T>C	19.37:g.4511710A>G							p.T740T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2219	-			740			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2220T>C	CCDS45927.1																																																																																				0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		31	302	0	0	0	1	0	31	302				
GABRE	2564	broad.mit.edu	37	X	151128415	151128415	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:151128415C>G	ENST00000370328.3	-	6	733	c.680G>C	c.(679-681)tGg>tCg	p.W227S	MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.W227S|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Missense_Mutation_p.W34S	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	227					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAATTTTCCCACTTGTAGAT	0.413																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(679-681)tGg>tCg		gamma-aminobutyric acid (GABA) A receptor, epsilon							101.0	98.0	99.0					X																	151128415		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151128415C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.680G>C	X.37:g.151128415C>G	ENSP00000359353:p.Trp227Ser					GABRE_ENST00000370328.3_Missense_Mutation_p.W227S|GABRE_ENST00000393914.3_Missense_Mutation_p.W34S	p.W227S			P78334	GBRE_HUMAN			6	733	-	Acute lymphoblastic leukemia(192;6.56e-05)		227					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.680G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396634	0.62177	.	.	ENSG00000102287	ENST00000370328;ENST00000370325;ENST00000393914	T;T	0.80123	-1.34;-1.34	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.56097	D	0.000036	D	0.91270	0.7248	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92590	0.6082	10	0.87932	D	0	.	16.3838	0.83490	0.0:1.0:0.0:0.0	.	227	P78334	GBRE_HUMAN	S	227;227;34	ENSP00000359353:W227S;ENSP00000359350:W227S	ENSP00000359350:W227S	W	-	2	0	GABRE	150879071	1.000000	0.71417	0.986000	0.45419	0.568000	0.35870	5.759000	0.68785	2.562000	0.86427	0.600000	0.82982	TGG		0.413	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		30	105	0	0	0	1	0	30	105				
ABCA2	20	broad.mit.edu	37	9	139904519	139904519	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:139904519G>A	ENST00000371605.3	-	41	6555	c.6408C>T	c.(6406-6408)gaC>gaT	p.D2136D	ABCA2_ENST00000341511.6_Silent_p.D2137D|ABCA2_ENST00000265662.5_Silent_p.D2137D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2136	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAACAGCGCGTCACACTGCG	0.697																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6409-6411)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 2							11.0	14.0	13.0					9																	139904519		2129	4204	6333	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904519G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6408C>T	9.37:g.139904519G>A						ABCA2_ENST00000371605.3_Silent_p.D2136D|ABCA2_ENST00000341511.6_Silent_p.D2137D	p.D2137D			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6558	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2136			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6411C>T																																																																																					0.697	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	14	0	0	0	1	0	3	14				
SCN4A	6329	broad.mit.edu	37	17	62026810	62026810	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:62026810C>T	ENST00000435607.1	-	15	3008	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	SCN4A_ENST00000578147.1_Missense_Mutation_p.E978K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	978					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCTGCTCCTCAGGGTCCTCC	0.652																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2932-2934)Gag>Aag		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						30.0	37.0	35.0					17																	62026810		1954	4157	6111	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62026810C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2932G>A	17.37:g.62026810C>T	ENSP00000396320:p.Glu978Lys					SCN4A_ENST00000435607.1_Missense_Mutation_p.E978K	p.E978K			P35499	SCN4A_HUMAN			15	3008	-			978					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.2932G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562372	0.65538	.	.	ENSG00000007314	ENST00000435607	D	0.84730	-1.89	4.71	3.66	0.41972	Sodium ion transport-associated (1);	0.051457	0.85682	D	0.000000	D	0.86343	0.5910	M	0.74647	2.275	0.35671	D	0.813284	B	0.29378	0.243	B	0.38378	0.272	D	0.89653	0.3871	10	0.49607	T	0.09	.	13.7011	0.62608	0.0:0.8448:0.1552:0.0	.	978	P35499	SCN4A_HUMAN	K	978	ENSP00000396320:E978K	ENSP00000396320:E978K	E	-	1	0	SCN4A	59380542	0.635000	0.27199	0.997000	0.53966	0.995000	0.86356	3.730000	0.55006	2.339000	0.79563	0.561000	0.74099	GAG		0.652	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	31	0	0	0	1	0	4	31				
FAM186B	84070	broad.mit.edu	37	12	49993562	49993562	+	Missense_Mutation	SNP	G	G	A	rs139362702		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:49993562G>A	ENST00000257894.2	-	4	2022	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.R531W	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	621						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGCGGGTCCGTGGTCTGTAG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16427	0.001		0.0	False		,,,				2504	0.0					ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1591-1593)Cgg>Tgg		family with sequence similarity 186, member B		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	92.0	84.0	87.0		1861	-3.5	0.0	12	dbSNP_134	87	0,8600		0,0,4300	no	missense	FAM186B	NM_032130.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	621/894	49993562	2,13004	2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49993562G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1861C>T	12.37:g.49993562G>A	ENSP00000257894:p.Arg621Trp					FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.R621W	p.R531W			Q8IYM0	F186B_HUMAN			4	2190	-			621					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.1591C>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548000	0.27652	4.54E-4	0.0	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12569	2.67;2.67;2.87	4.6	-3.45	0.04781	.	1.812890	0.02983	N	0.145870	T	0.13415	0.0325	M	0.65975	2.015	0.09310	N	1	B;B	0.20887	0.049;0.01	B;B	0.12156	0.007;0.004	T	0.27400	-1.0075	9	.	.	.	-0.0414	1.6485	0.02766	0.44:0.1384:0.2804:0.1412	.	531;621	B4DZ15;Q8IYM0	.;F186B_HUMAN	W	531;234;621	ENSP00000438569:R531W;ENSP00000436995:R234W;ENSP00000257894:R621W	.	R	-	1	2	FAM186B	48279829	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.108000	0.03313	-0.565000	0.06061	0.563000	0.77884	CGG		0.567	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		18	120	0	0	0	1	0	18	120				
FFAR1	2864	broad.mit.edu	37	19	35842961	35842961	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:35842961C>T	ENST00000246553.2	+	1	517	c.507C>T	c.(505-507)gtC>gtT	p.V169V		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	169					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCTCTCCGGTCTGCCTGGAGG	0.647																																						ENST00000246553.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(505-507)gtC>gtT		free fatty acid receptor 1	Icosapent(DB00159)						39.0	41.0	41.0					19																	35842961		2203	4300	6503	SO:0001819	synonymous_variant	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842961C>T	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.507C>T	19.37:g.35842961C>T							p.V169V	NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	517	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		169					Q0VAS2|Q4VBL4	Silent	SNP	ENST00000246553.2	37	c.507C>T	CCDS12458.1																																																																																				0.647	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		15	37	0	0	0	1	0	15	37				
IQSEC2	23096	broad.mit.edu	37	X	53268428	53268428	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:53268428G>A	ENST00000375368.5	-	10	3234	c.3034C>T	c.(3034-3036)Cgt>Tgt	p.R1012C	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R1022C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R817C			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1012	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AAAGACTGACGGAAACTGTAC	0.507											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(3064-3066)Cgt>Tgt		IQ motif and Sec7 domain 2							112.0	102.0	105.0					X																	53268428		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268428G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3034C>T	X.37:g.53268428G>A	ENSP00000364517:p.Arg1012Cys		OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_ENST00000375365.2_Missense_Mutation_p.R817C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R1012C	p.R1022C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			11	3264	-			1012			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3064C>T		.	.	.	.	.	.	.	.	.	.	G	18.23	3.578676	0.65878	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.52754	0.65;0.65;0.65	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.991	T	0.59643	-0.7416	10	0.40728	T	0.16	.	17.3444	0.87306	0.0:0.0:1.0:0.0	.	1022;817	Q5JU85-2;Q5JU85-3	.;.	C	1022;1012;817	ENSP00000379712:R1022C;ENSP00000364517:R1012C;ENSP00000364514:R817C	ENSP00000364514:R817C	R	-	1	0	IQSEC2	53285153	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.712000	0.47186	2.363000	0.80096	0.511000	0.50034	CGT		0.507	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		6	62	0	0	0	1	0	6	62				
ANKRD52	283373	broad.mit.edu	37	12	56648679	56648679	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:56648679G>A	ENST00000267116.7	-	6	641	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	174										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGAGGCTGCCGCTCCTTTTTG	0.493																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(520-522)Cgg>Tgg		ankyrin repeat domain 52							75.0	75.0	75.0					12																	56648679		1893	4117	6010	SO:0001583	missense	283373						protein binding	g.chr12:56648679G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.520C>T	12.37:g.56648679G>A	ENSP00000267116:p.Arg174Trp						p.R174W	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			6	641	-			174					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.520C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166241	0.78339	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66638	-0.22	4.75	4.75	0.60458	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.42581	1.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.70753	-0.4786	10	0.34782	T	0.22	.	12.708	0.57073	0.0:0.0:0.8346:0.1653	.	174	Q8NB46	ANR52_HUMAN	W	174	ENSP00000267116:R174W	ENSP00000267116:R174W	R	-	1	2	ANKRD52	54934946	0.393000	0.25237	1.000000	0.80357	0.998000	0.95712	0.591000	0.23969	2.632000	0.89209	0.655000	0.94253	CGG		0.493	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		39	82	0	0	0	1	0	39	82				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	141	0	0	0	1	0	6	141				
SSX7	280658	broad.mit.edu	37	X	52681920	52681920	+	Splice_Site	SNP	C	C	G	rs141868047		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:52681920C>G	ENST00000298181.5	-	3	342	c.184G>C	c.(184-186)Ggc>Cgc	p.G62R		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	62	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTTCTGTTACCTAGTTTAGTC	0.413																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.e3+1		synovial sarcoma, X breakpoint 7							113.0	89.0	97.0					X																	52681920		2203	4297	6500	SO:0001630	splice_region_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681920C>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.184+1G>C	X.37:g.52681920C>G							p.G62_splice	NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			3	342	-	Ovarian(276;0.236)		62			KRAB-related.			Splice_Site	SNP	ENST00000298181.5	37	c.184_splice	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	10.45	1.354135	0.24512	.	.	ENSG00000187754	ENST00000298181	T	0.01178	5.22	0.56	0.56	0.17279	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.132116	0.35320	N	0.003298	T	0.08492	0.0211	H	0.95611	3.695	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02868	-1.1100	8	.	.	.	.	.	.	.	.	62	Q7RTT5	SSX7_HUMAN	R	62	ENSP00000298181:G62R	.	G	-	1	0	SSX7	52698645	0.993000	0.37304	0.036000	0.18154	0.084000	0.17831	1.775000	0.38584	0.518000	0.28383	0.174000	0.16983	GGC		0.413	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358	Missense_Mutation	16	169	0	0	0	1	0	16	169				
MAN1A2	10905	broad.mit.edu	37	1	117944812	117944812	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:117944812G>A	ENST00000356554.3	+	2	1042	c.307G>A	c.(307-309)Gag>Aag	p.E103K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	103					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E103Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCACAGGGAAGAGGAAGAACG	0.363																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			1	Substitution - Missense(1)	p.E103Q(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(307-309)Gag>Aag		mannosidase, alpha, class 1A, member 2							57.0	61.0	60.0					1																	117944812		2197	4300	6497	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944812G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.307G>A	1.37:g.117944812G>A	ENSP00000348959:p.Glu103Lys					MAN1A2_ENST00000482811.1_Intron	p.E103K	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1042	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	103					Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.307G>A	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958378	0.74016	.	.	ENSG00000198162	ENST00000356554	D	0.82803	-1.65	5.66	5.66	0.87406	.	0.052085	0.85682	D	0.000000	T	0.70684	0.3252	L	0.47716	1.5	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.66006	-0.6030	10	0.31617	T	0.26	-26.0736	17.2254	0.86969	0.0:0.0:1.0:0.0	.	103	O60476	MA1A2_HUMAN	K	103	ENSP00000348959:E103K	ENSP00000348959:E103K	E	+	1	0	MAN1A2	117746335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.311000	0.96282	2.665000	0.90641	0.585000	0.79938	GAG		0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		6	76	0	0	0	1	0	6	76				
AKAP11	11215	broad.mit.edu	37	13	42877782	42877782	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr13:42877782C>T	ENST00000025301.2	+	8	5075	c.4900C>T	c.(4900-4902)Cat>Tat	p.H1634Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1634					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TAGGATTTTTCATCTCAGTGT	0.423																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4900-4902)Cat>Tat		A kinase (PRKA) anchor protein 11							72.0	76.0	75.0					13																	42877782		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877782C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4900C>T	13.37:g.42877782C>T	ENSP00000025301:p.His1634Tyr						p.H1634Y	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	5075	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1634					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4900C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228478	0.39399	.	.	ENSG00000023516	ENST00000025301	T	0.61392	0.11	5.58	5.58	0.84498	.	0.264545	0.37393	N	0.002118	T	0.70613	0.3244	M	0.69823	2.125	0.35965	D	0.834852	D	0.56035	0.974	P	0.53689	0.732	T	0.76961	-0.2765	10	0.49607	T	0.09	.	19.5841	0.95484	0.0:1.0:0.0:0.0	.	1634	Q9UKA4	AKA11_HUMAN	Y	1634	ENSP00000025301:H1634Y	ENSP00000025301:H1634Y	H	+	1	0	AKAP11	41775782	1.000000	0.71417	0.987000	0.45799	0.450000	0.32258	3.789000	0.55454	2.604000	0.88044	0.655000	0.94253	CAT		0.423	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		30	100	0	0	0	1	0	30	100				
PTPRZ1	5803	broad.mit.edu	37	7	121650440	121650440	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:121650440G>T	ENST00000393386.2	+	12	1751	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R447I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	447					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATCCTGGTAGAGACAGTGCT	0.398																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1339-1341)aGa>aTa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							143.0	137.0	139.0					7																	121650440		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650440G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1340G>T	7.37:g.121650440G>T	ENSP00000377047:p.Arg447Ile					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R447I	p.R447I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	1751	+			447					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1340G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166013	0.57476	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.44482	0.92;0.92	5.47	4.53	0.55603	.	0.238483	0.35525	N	0.003159	T	0.39462	0.1079	M	0.65975	2.015	0.45607	D	0.998541	P;P	0.45902	0.664;0.868	B;B	0.37198	0.08;0.243	T	0.48246	-0.9052	10	0.62326	D	0.03	.	12.9657	0.58483	0.0:0.3814:0.6186:0.0	.	447;447	C9JFM0;P23471	.;PTPRZ_HUMAN	I	447	ENSP00000377047:R447I;ENSP00000410000:R447I	ENSP00000377047:R447I	R	+	2	0	PTPRZ1	121437676	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.507000	0.35758	2.726000	0.93360	0.655000	0.94253	AGA		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		15	104	1	0	3.45872e-05	1	3.54934e-05	15	104				
C1orf101	257044	broad.mit.edu	37	1	244681979	244681979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:244681979C>T	ENST00000366534.4	+	8	569	c.515C>T	c.(514-516)tCa>tTa	p.S172L	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.S172L|C1orf101_ENST00000366531.3_Missense_Mutation_p.S21L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	172						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTTTATTCTTCAAATGAGAAA	0.294																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(514-516)tCa>tTa		chromosome 1 open reading frame 101							40.0	45.0	44.0					1																	244681979		2195	4294	6489	SO:0001583	missense	257044					integral to membrane		g.chr1:244681979C>T	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.515C>T	1.37:g.244681979C>T	ENSP00000355492:p.Ser172Leu					C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.S172L|C1orf101_ENST00000366531.3_Missense_Mutation_p.S21L	p.S172L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		8	569	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		172					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.515C>T	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190063	0.38707	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000366531	T;T	0.32988	1.43;1.43	4.79	4.79	0.61399	.	0.778889	0.11623	N	0.545611	T	0.26011	0.0634	L	0.36672	1.1	0.09310	N	1	B;B	0.32160	0.358;0.358	B;B	0.25140	0.058;0.058	T	0.16012	-1.0417	10	0.72032	D	0.01	.	13.5613	0.61790	0.0:1.0:0.0:0.0	.	172;172	Q5SY80;Q5SY80-2	CA101_HUMAN;.	L	172;172;172;21	ENSP00000355492:S172L;ENSP00000355491:S172L	ENSP00000355489:S21L	S	+	2	0	C1orf101	242748602	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	1.540000	0.36115	2.648000	0.89879	0.650000	0.86243	TCA		0.294	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		10	62	0	0	0	1	0	10	62				
PIK3CA	5290	broad.mit.edu	37	3	178947838	178947838	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:178947838T>A	ENST00000263967.3	+	19	2870	c.2713T>A	c.(2713-2715)Tgt>Agt	p.C905S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	905	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGCTGGATACTGTGTAGCTAC	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2713-2715)Tgt>Agt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							216.0	203.0	207.0					3																	178947838		1908	4128	6036	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947838T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2713T>A	3.37:g.178947838T>A	ENSP00000263967:p.Cys905Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C905S	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2870	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		905			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2713T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864502	0.91511	.	.	ENSG00000121879	ENST00000263967	T	0.74526	-0.85	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	N	0.20881	0.62	0.80722	D	1	D	0.54397	0.966	P	0.57502	0.822	T	0.74794	-0.3544	10	0.37606	T	0.19	-10.7155	15.802	0.78458	0.0:0.0:0.0:1.0	.	905	P42336	PK3CA_HUMAN	S	905	ENSP00000263967:C905S	ENSP00000263967:C905S	C	+	1	0	PIK3CA	180430532	1.000000	0.71417	0.966000	0.40874	0.965000	0.64279	7.611000	0.82962	2.139000	0.66308	0.477000	0.44152	TGT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			76	214	0	0	0	1	0	76	214				
MAP1A	4130	broad.mit.edu	37	15	43815351	43815351	+	Silent	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:43815351T>C	ENST00000300231.5	+	4	2130	c.1680T>C	c.(1678-1680)ccT>ccC	p.P560P	MAP1A_ENST00000399453.1_Silent_p.P560P|MAP1A_ENST00000382031.1_Silent_p.P798P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	560					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCCATTCCCTCTAGACACTG	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2392-2394)ccT>ccC		microtubule-associated protein 1A	Estramustine(DB01196)						67.0	70.0	69.0					15																	43815351		2048	4192	6240	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815351T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1680T>C	15.37:g.43815351T>C						MAP1A_ENST00000300231.5_Silent_p.P560P|MAP1A_ENST00000399453.1_Silent_p.P560P	p.P798P			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	2425	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	560					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.2394T>C	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		23	64	0	0	0	1	0	23	64				
ERF	2077	broad.mit.edu	37	19	42754072	42754072	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:42754072G>A	ENST00000222329.4	-	3	437	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	ERF_ENST00000440177.2_Silent_p.L19L|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	94					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCTTGTGCAGAATGCGCTTG	0.473																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(280-282)Ctg>Ttg		Ets2 repressor factor							299.0	265.0	276.0					19																	42754072		2203	4300	6503	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754072G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.280C>T	19.37:g.42754072G>A						ERF_ENST00000440177.2_Silent_p.L19L|AC006486.9_ENST00000594664.1_Intron	p.L94L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			3	437	-		Prostate(69;0.00682)	94					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.280C>T	CCDS12600.1																																																																																				0.473	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		34	182	0	0	0	1	0	34	182				
CCDC88C	440193	broad.mit.edu	37	14	91805805	91805805	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:91805805A>G	ENST00000389857.6	-	8	712	c.626T>C	c.(625-627)cTg>cCg	p.L209P		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	209					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTCCACGATCAGCTGCAGCCG	0.602																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.e8-1		coiled-coil domain containing 88C							41.0	49.0	46.0					14																	91805805		2140	4256	6396	SO:0001630	splice_region_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91805805A>G		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.625-1T>C	14.37:g.91805805A>G							p.L209_splice	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			8	712	-		all_cancers(154;0.0468)	209					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Splice_Site	SNP	ENST00000389857.6	37	c.624_splice	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916753	0.73098	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.42131	0.98	5.25	5.25	0.73442	.	0.196770	0.24633	U	0.036862	T	0.57844	0.2081	L	0.58101	1.795	0.80722	D	1	D	0.63880	0.993	P	0.62560	0.904	T	0.57556	-0.7791	10	0.44086	T	0.13	-19.0081	15.1663	0.72828	1.0:0.0:0.0:0.0	.	209	Q9P219	DAPLE_HUMAN	P	209;173	ENSP00000374507:L209P	ENSP00000374507:L209P	L	-	2	0	CCDC88C	90875558	0.999000	0.42202	1.000000	0.80357	0.858000	0.48976	5.273000	0.65564	1.988000	0.58038	0.459000	0.35465	CTG		0.602	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	Missense_Mutation	3	14	0	0	0	1	0	3	14				
RNF141	50862	broad.mit.edu	37	11	10540606	10540606	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:10540606A>G	ENST00000265981.2	-	5	659	c.517T>C	c.(517-519)Ttt>Ctt	p.F173L	RNF141_ENST00000528665.1_Missense_Mutation_p.F173L	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	173					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TTCTGACAAAAGCTGTGAGCA	0.468																																					Ovarian(8;377 410 25844 26058 41491)	ENST00000265981.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(517-519)Ttt>Ctt		ring finger protein 141							133.0	106.0	115.0					11																	10540606		2201	4294	6495	SO:0001583	missense	50862						zinc ion binding	g.chr11:10540606A>G	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.517T>C	11.37:g.10540606A>G	ENSP00000265981:p.Phe173Leu					RNF141_ENST00000528665.1_Missense_Mutation_p.F173L	p.F173L	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	5	659	-			173					A8K149|Q9NZB4	Missense_Mutation	SNP	ENST00000265981.2	37	c.517T>C	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	A	36	5.794456	0.96952	.	.	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	D;D;D	0.83335	-1.71;-1.71;-1.71	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.88155	0.2853	10	0.34782	T	0.22	-22.6199	16.3631	0.83280	1.0:0.0:0.0:0.0	.	173	Q8WVD5	RN141_HUMAN	L	173	ENSP00000265981:F173L;ENSP00000434320:F173L;ENSP00000435086:F173L	ENSP00000265981:F173L	F	-	1	0	RNF141	10497182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.866000	0.92307	2.266000	0.75297	0.533000	0.62120	TTT		0.468	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422		4	40	0	0	0	1	0	4	40				
ARHGAP29	9411	broad.mit.edu	37	1	94640110	94640110	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:94640110C>T	ENST00000260526.6	-	23	3283	c.3101G>A	c.(3100-3102)aGa>aAa	p.R1034K	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1034					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTGCCATTTCTCTCATTAGG	0.398																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3100-3102)aGa>aAa		Rho GTPase activating protein 29							113.0	112.0	112.0					1																	94640110		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94640110C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3101G>A	1.37:g.94640110C>T	ENSP00000260526:p.Arg1034Lys						p.R1034K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3283	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1034					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3101G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361236	0.24684	.	.	ENSG00000137962	ENST00000260526	T	0.23348	1.91	5.4	3.5	0.40072	.	0.000000	0.42172	D	0.000757	T	0.07007	0.0178	L	0.40543	1.245	0.32408	N	0.551054	P	0.36144	0.539	B	0.28011	0.085	T	0.19647	-1.0299	10	0.22109	T	0.4	-19.6816	10.1235	0.42634	0.0:0.7836:0.0:0.2164	.	1034	Q52LW3	RHG29_HUMAN	K	1034	ENSP00000260526:R1034K	ENSP00000260526:R1034K	R	-	2	0	ARHGAP29	94412698	1.000000	0.71417	0.969000	0.41365	0.256000	0.26092	1.410000	0.34691	1.431000	0.47355	0.591000	0.81541	AGA		0.398	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		22	136	0	0	0	1	0	22	136				
PACS2	23241	broad.mit.edu	37	14	105821444	105821444	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:105821444G>C	ENST00000325438.8	+	4	857	c.353G>C	c.(352-354)aGa>aCa	p.R118T	PACS2_ENST00000547217.1_Missense_Mutation_p.R88T|PACS2_ENST00000447393.1_Missense_Mutation_p.R118T|PACS2_ENST00000458164.2_Missense_Mutation_p.R118T|PACS2_ENST00000430725.2_Missense_Mutation_p.R51T			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	118					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CTGCAGCGCAGAAAGCGCTAC	0.607																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(352-354)aGa>aCa		phosphofurin acidic cluster sorting protein 2							78.0	63.0	68.0					14																	105821444		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105821444G>C	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.353G>C	14.37:g.105821444G>C	ENSP00000321834:p.Arg118Thr					PACS2_ENST00000430725.2_Missense_Mutation_p.R51T|PACS2_ENST00000547217.1_Missense_Mutation_p.R88T|PACS2_ENST00000325438.8_Missense_Mutation_p.R118T|PACS2_ENST00000458164.2_Missense_Mutation_p.R118T	p.R118T	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	4	528	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	118					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.353G>C	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653769	0.88056	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000546915	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.49081	0.1536	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.973;0.996	D;D;P;D	0.83275	0.964;0.996;0.663;0.99	T	0.60845	-0.7182	10	0.87932	D	0	-8.3311	16.0228	0.80512	0.0:0.0:1.0:0.0	.	118;118;118;127	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	T	51;118;118;118;88;51	ENSP00000393524:R51T;ENSP00000321834:R118T;ENSP00000399732:R118T;ENSP00000393559:R118T;ENSP00000449525:R88T	ENSP00000321834:R118T	R	+	2	0	PACS2	104892489	1.000000	0.71417	0.947000	0.38551	0.980000	0.70556	9.416000	0.97383	2.092000	0.63282	0.563000	0.77884	AGA		0.607	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		7	37	0	0	0	1	0	7	37				
LCK	3932	broad.mit.edu	37	1	32740385	32740385	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:32740385C>T	ENST00000336890.5	+	3	291	c.153C>T	c.(151-153)taC>taT	p.Y51Y	LCK_ENST00000333070.4_Silent_p.Y51Y|LCK_ENST00000373564.3_Silent_p.Y51Y	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	51	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TGGTTACCTACGAAGGCTCCA	0.612			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(151-153)taC>taT		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						70.0	62.0	65.0					1																	32740385		2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740385C>T	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.153C>T	1.37:g.32740385C>T						LCK_ENST00000373564.3_Silent_p.Y51Y|LCK_ENST00000336890.5_Silent_p.Y51Y	p.Y51Y	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			3	253	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	51			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.153C>T	CCDS359.1																																																																																				0.612	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		4	35	0	0	0	1	0	4	35				
TRPV2	51393	broad.mit.edu	37	17	16342471	16342471	+	IGR	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:16342471C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCCGGGAAGCCTGTCTAGAGG	0.642																																						ENST00000475953.1																			0																				27.0	33.0	31.0					17																	16342471		2000	4019	6019	SO:0001628	intergenic_variant	125144							g.chr17:16342471C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342471C>T						C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA		NR_027667.1						0	113	+								A6NML2|A8K0Z0|Q9Y670	RNA	SNP	ENST00000338560.7	37		CCDS32576.1																																																																																				0.642	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		11	61	0	0	0	1	0	11	61				
TMTC4	84899	broad.mit.edu	37	13	101266643	101266643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr13:101266643C>T	ENST00000376234.3	-	15	2010	c.1821G>A	c.(1819-1821)tgG>tgA	p.W607*	TMTC4_ENST00000328767.5_Nonsense_Mutation_p.W496*|TMTC4_ENST00000342624.5_Nonsense_Mutation_p.W626*	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	607						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCATTTCTCCACGCATTCA	0.448																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1876-1878)tgG>tgA		transmembrane and tetratricopeptide repeat containing 4							184.0	159.0	168.0					13																	101266643		2203	4300	6503	SO:0001587	stop_gained	84899					integral to membrane	binding	g.chr13:101266643C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1821G>A	13.37:g.101266643C>T	ENSP00000365408:p.Trp607*					TMTC4_ENST00000376234.3_Nonsense_Mutation_p.W607*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.W496*	p.W626*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			16	2136	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		607					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Nonsense_Mutation	SNP	ENST00000376234.3	37	c.1878G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	38	6.823556	0.97865	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4557	0.94886	0.0:1.0:0.0:0.0	.	.	.	.	X	607;626;496	.	ENSP00000365409:W496X	W	-	3	0	TMTC4	100064644	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.433000	0.80362	2.587000	0.87381	0.561000	0.74099	TGG		0.448	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		29	95	0	0	0	1	0	29	95				
KEAP1	9817	broad.mit.edu	37	19	10610554	10610554	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:10610554G>A	ENST00000171111.5	-	2	703	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KEAP1_ENST00000393623.2_Silent_p.F52F|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	52					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGTGTAGCTGAAGGTGCGGT	0.617																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(154-156)ttC>ttT		kelch-like ECH-associated protein 1							141.0	111.0	121.0					19																	10610554		2203	4300	6503	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610554G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.156C>T	19.37:g.10610554G>A						KEAP1_ENST00000393623.2_Silent_p.F52F	p.F52F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	703	-			52					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.156C>T	CCDS12239.1																																																																																				0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		9	112	0	0	0	1	0	9	112				
ASTE1	28990	broad.mit.edu	37	3	130743867	130743867	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:130743867C>G	ENST00000264992.3	-	3	725	c.284G>C	c.(283-285)aGa>aCa	p.R95T	NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.R95T|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	95					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTCTCTAGCTCTATCCTTTAA	0.393																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(283-285)aGa>aCa		asteroid homolog 1 (Drosophila)							119.0	117.0	118.0					3																	130743867		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130743867C>G	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.284G>C	3.37:g.130743867C>G	ENSP00000264992:p.Arg95Thr					ASTE1_ENST00000514044.1_Missense_Mutation_p.R95T	p.R95T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	725	-			95					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.284G>C	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598819	0.28445	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	T;T	0.73047	-0.71;-0.71	5.45	4.58	0.56647	XPG N-terminal (1);	0.056572	0.64402	D	0.000001	D	0.85826	0.5787	M	0.88906	2.99	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80037	-0.1550	10	0.72032	D	0.01	-10.4285	14.048	0.64716	0.0:0.9264:0.0:0.0736	.	95;95	D6RG30;Q2TB18	.;ASTE1_HUMAN	T	95	ENSP00000426421:R95T;ENSP00000264992:R95T	ENSP00000264992:R95T	R	-	2	0	ASTE1	132226557	0.845000	0.29573	0.019000	0.16419	0.003000	0.03518	4.402000	0.59722	1.300000	0.44818	-0.150000	0.13652	AGA		0.393	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		4	73	0	0	0	1	0	4	73				
ARID4A	5926	broad.mit.edu	37	14	58831438	58831438	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:58831438G>A	ENST00000355431.3	+	20	3004	c.2631G>A	c.(2629-2631)atG>atA	p.M877I	ARID4A_ENST00000395168.3_Missense_Mutation_p.M877I|ARID4A_ENST00000431317.2_Missense_Mutation_p.M877I|ARID4A_ENST00000348476.3_Missense_Mutation_p.M877I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	877					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAATGGAAATGACAAATACTG	0.328																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2629-2631)atG>atA		AT rich interactive domain 4A (RBP1-like)							74.0	67.0	69.0					14																	58831438		2203	4299	6502	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831438G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2631G>A	14.37:g.58831438G>A	ENSP00000347602:p.Met877Ile					ARID4A_ENST00000431317.2_Missense_Mutation_p.M877I|ARID4A_ENST00000395168.3_Missense_Mutation_p.M877I|ARID4A_ENST00000348476.3_Missense_Mutation_p.M877I	p.M877I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3004	+			877					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2631G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834867	0.32421	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.13420	2.6;2.59;2.59;2.59;2.6	5.59	5.59	0.84812	.	0.548741	0.22573	N	0.058310	T	0.14013	0.0339	L	0.36672	1.1	0.28009	N	0.934976	B;B;B	0.14438	0.01;0.001;0.01	B;B;B	0.10450	0.005;0.001;0.005	T	0.06391	-1.0829	10	0.49607	T	0.09	-6.4089	15.9548	0.79880	0.0:0.0:0.8648:0.1352	.	877;877;877	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	I	877;877;877;877;555	ENSP00000347602:M877I;ENSP00000344556:M877I;ENSP00000378597:M877I;ENSP00000397368:M877I;ENSP00000416053:M555I	ENSP00000344556:M877I	M	+	3	0	ARID4A	57901191	0.964000	0.33143	1.000000	0.80357	0.963000	0.63663	0.387000	0.20718	2.638000	0.89438	0.650000	0.86243	ATG		0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		10	50	0	0	0	1	0	10	50				
UNC50	25972	broad.mit.edu	37	2	99226346	99226346	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:99226346C>T	ENST00000357765.2	+	2	276	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.R59W|UNC50_ENST00000409975.1_Missense_Mutation_p.R59W|COA5_ENST00000483527.1_5'Flank|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	42					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTCCGCTTTCGGCAAATGGA	0.473																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(175-177)Cgg>Tgg		unc-50 homolog (C. elegans)							124.0	123.0	123.0					2																	99226346		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226346C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.124C>T	2.37:g.99226346C>T	ENSP00000350409:p.Arg42Trp					UNC50_ENST00000357765.2_Missense_Mutation_p.R42W|UNC50_ENST00000409347.1_Missense_Mutation_p.R59W	p.R59W			Q53HI1	UNC50_HUMAN			1	1305	+			42					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.175C>T	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175711	0.78564	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	3.36	0.38483	.	0.137147	0.51477	D	0.000090	T	0.75488	0.3856	M	0.82517	2.595	0.58432	D	0.999999	D	0.71674	0.998	D	0.63381	0.914	T	0.77765	-0.2465	9	0.72032	D	0.01	-34.658	9.09	0.36605	0.2295:0.6904:0.0:0.0802	.	42	Q53HI1	UNC50_HUMAN	W	42;59;59	.	ENSP00000350409:R42W	R	+	1	2	UNC50	98592778	0.993000	0.37304	0.972000	0.41901	0.952000	0.60782	0.573000	0.23699	1.258000	0.44101	0.591000	0.81541	CGG		0.473	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		8	174	0	0	0	1	0	8	174				
TERT	7015	broad.mit.edu	37	5	1264618	1264618	+	Missense_Mutation	SNP	C	C	T	rs202033269	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:1264618C>T	ENST00000310581.5	-	11	2801	c.2744G>A	c.(2743-2745)gGt>gAt	p.G915D	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	915	Required for oligomerization.|Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGCCGTGCCACCCAGGGCCTC	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18085	0.0		0.0	False		,,,				2504	0.0					ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2743-2745)gGt>gAt		telomerase reverse transcriptase							63.0	74.0	70.0					5																	1264618		2098	4206	6304	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1264618C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2744G>A	5.37:g.1264618C>T	ENSP00000309572:p.Gly915Asp					TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	p.G915D	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2801	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		915			Required for oligomerization.|Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2744G>A	CCDS3861.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.05	1.243973	0.22796	.	.	ENSG00000164362	ENST00000310581	D	0.96619	-4.07	4.11	3.23	0.37069	Reverse transcriptase (1);	0.663216	0.15155	N	0.277477	D	0.94427	0.8207	L	0.46157	1.445	0.09310	N	0.999999	P	0.39883	0.693	P	0.48982	0.597	D	0.86173	0.1601	10	0.12430	T	0.62	-19.8652	6.7816	0.23648	0.0:0.7206:0.1788:0.1006	.	915	O14746	TERT_HUMAN	D	915	ENSP00000309572:G915D	ENSP00000309572:G915D	G	-	2	0	TERT	1317618	0.021000	0.18746	0.021000	0.16686	0.006000	0.05464	1.293000	0.33353	0.704000	0.31869	0.462000	0.41574	GGT		0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			11	52	0	0	0	1	0	11	52				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			21	91	0	0	0	1	0	21	91				
CHD3	1107	broad.mit.edu	37	17	7793095	7793095	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:7793095G>T	ENST00000330494.7	+	2	363		c.e2+1		CHD3_ENST00000380358.4_Splice_Site|CHD3_ENST00000358181.4_Splice_Site|CHD3_ENST00000570758.1_Splice_Site	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGAAGCGTGTAAGTGTCAA	0.507																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.e2+1		chromodomain helicase DNA binding protein 3							98.0	91.0	93.0					17																	7793095		2203	4300	6503	SO:0001630	splice_region_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7793095G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.213+1G>T	17.37:g.7793095G>T						CHD3_ENST00000358181.4_Splice_Site|CHD3_ENST00000330494.7_Splice_Site|CHD3_ENST00000570758.1_Splice_Site		NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			2	391	+		Prostate(122;0.202)						D3DTQ9|E9PG89|Q9Y4I0	Splice_Site	SNP	ENST00000330494.7	37		CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208389	0.58343	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.573	0.61858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD3	7733820	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.225000	0.72271	2.332000	0.79248	0.448000	0.29417	.		0.507	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Intron	16	33	1	0	6.31663e-08	1	6.59737e-08	16	33				
CCDC112	153733	broad.mit.edu	37	5	114611171	114611171	+	Silent	SNP	A	A	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:114611171A>T	ENST00000512261.1	-	7	827	c.411T>A	c.(409-411)ccT>ccA	p.P137P	CCDC112_ENST00000379611.5_Silent_p.P220P|CCDC112_ENST00000395557.4_Silent_p.P137P|CCDC112_ENST00000506442.1_Silent_p.P137P|CCDC112_ENST00000503027.1_5'UTR			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	137										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTTGTCTACAGGAACTTTGC	0.403																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(658-660)ccT>ccA		coiled-coil domain containing 112							140.0	142.0	141.0					5																	114611171		2202	4300	6502	SO:0001819	synonymous_variant	153733							g.chr5:114611171A>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.411T>A	5.37:g.114611171A>T						CCDC112_ENST00000512261.1_Silent_p.P137P|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Silent_p.P137P|CCDC112_ENST00000395557.4_Silent_p.P137P	p.P220P	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	947	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	137					Q6A334	Silent	SNP	ENST00000512261.1	37	c.660T>A	CCDS4117.1																																																																																				0.403	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		42	142	0	0	0	1	0	42	142				
PCDHB3	56132	broad.mit.edu	37	5	140482233	140482233	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:140482233C>G	ENST00000231130.2	+	1	2000	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.692																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1999-2001)tCc>tGc									46.0	51.0	49.0					5																	140482233		2176	4235	6411	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482233C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2000C>G	5.37:g.140482233C>G	ENSP00000231130:p.Ser667Cys						p.S667C	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2000	+			667			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2000C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253733	0.59212	.	.	ENSG00000113205	ENST00000231130	T	0.52983	0.64	4.29	4.29	0.51040	Cadherin (2);	.	.	.	.	T	0.73063	0.3539	M	0.87900	2.915	0.34098	D	0.661464	D	0.89917	1.0	D	0.85130	0.997	D	0.84525	0.0630	9	0.87932	D	0	.	16.7676	0.85528	0.0:1.0:0.0:0.0	.	667	Q9Y5E6	PCDB3_HUMAN	C	667	ENSP00000231130:S667C	ENSP00000231130:S667C	S	+	2	0	PCDHB3	140462417	0.974000	0.33945	1.000000	0.80357	0.982000	0.71751	2.303000	0.43646	2.095000	0.63458	0.485000	0.47835	TCC		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		16	138	0	0	0	1	0	16	138				
LCN15	389812	broad.mit.edu	37	9	139658213	139658213	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:139658213C>G	ENST00000316144.5	-	3	283	c.259G>C	c.(259-261)Gat>Cat	p.D87H	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	87					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TACTCGGCATCCACCTGGTTA	0.672																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(259-261)Gat>Cat		lipocalin 15							68.0	66.0	66.0					9																	139658213		2203	4300	6503	SO:0001583	missense	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139658213C>G		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.259G>C	9.37:g.139658213C>G	ENSP00000313833:p.Asp87His					LCN15_ENST00000482511.1_5'UTR	p.D87H	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			3	283	-			87						Missense_Mutation	SNP	ENST00000316144.5	37	c.259G>C	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326410	0.60743	.	.	ENSG00000177984	ENST00000316144	T	0.08008	3.14	4.12	4.12	0.48240	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.123056	0.35739	N	0.003002	T	0.26991	0.0661	M	0.77103	2.36	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02484	-1.1152	10	0.44086	T	0.13	.	11.7096	0.51618	0.0:1.0:0.0:0.0	.	87	Q6UWW0	LCN15_HUMAN	H	87	ENSP00000313833:D87H	ENSP00000313833:D87H	D	-	1	0	LCN15	138778034	0.385000	0.25172	0.011000	0.14972	0.884000	0.51177	3.137000	0.50562	2.129000	0.65627	0.655000	0.94253	GAT		0.672	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		7	32	0	0	0	1	0	7	32				
SMG6	23293	broad.mit.edu	37	17	2203825	2203825	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:2203825G>C	ENST00000263073.6	-	2	272	c.222C>G	c.(220-222)ttC>ttG	p.F74L	SMG6_ENST00000544865.1_Missense_Mutation_p.F43L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	74					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTCATCTTTGAATTCCTCAC	0.453																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(127-129)ttC>ttG		SMG6 nonsense mediated mRNA decay factor							135.0	135.0	135.0					17																	2203825		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203825G>C	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.222C>G	17.37:g.2203825G>C	ENSP00000263073:p.Phe74Leu					SMG6_ENST00000263073.5_Missense_Mutation_p.F74L	p.F43L			Q86US8	EST1A_HUMAN			2	639	-			74					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.129C>G	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	5.635	0.301767	0.10678	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.07567	3.2;3.18	5.2	-1.38	0.09027	.	0.933983	0.09215	N	0.832664	T	0.04770	0.0129	L	0.27053	0.805	0.23271	N	0.998005	B	0.02656	0.0	B	0.01281	0.0	T	0.47535	-0.9110	10	0.10902	T	0.67	-6.679	5.4735	0.16682	0.2453:0.3366:0.4182:0.0	.	74	Q86US8	EST1A_HUMAN	L	74;43	ENSP00000263073:F74L;ENSP00000443920:F43L	ENSP00000263073:F74L	F	-	3	2	SMG6	2150575	0.517000	0.26226	0.996000	0.52242	0.877000	0.50540	0.261000	0.18442	0.039000	0.15632	-0.302000	0.09304	TTC		0.453	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			33	185	0	0	0	1	0	33	185				
PRDM1	639	broad.mit.edu	37	6	106555311	106555311	+	Missense_Mutation	SNP	C	C	G	rs149770989		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:106555311C>G	ENST00000369096.4	+	7	2662	c.2428C>G	c.(2428-2430)Ctg>Gtg	p.L810V	PRDM1_ENST00000369091.2_Missense_Mutation_p.L774V|PRDM1_ENST00000369089.3_Missense_Mutation_p.L676V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	810					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCACTACCTCTGGTACCTGT	0.433			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(2428-2430)Ctg>Gtg		PR domain containing 1, with ZNF domain							74.0	76.0	75.0					6																	106555311		2202	4299	6501	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106555311C>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2428C>G	6.37:g.106555311C>G	ENSP00000358092:p.Leu810Val					PRDM1_ENST00000369091.2_Missense_Mutation_p.L774V|PRDM1_ENST00000369089.3_Missense_Mutation_p.L676V	p.L810V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2662	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	810					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.2428C>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534147	0.45073	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07688	3.18;3.17;3.17	5.78	5.78	0.91487	.	0.168359	0.43747	D	0.000527	T	0.09992	0.0245	L	0.60455	1.87	0.48571	D	0.999671	P;P	0.51791	0.948;0.828	P;B	0.45794	0.493;0.15	T	0.02031	-1.1226	10	0.62326	D	0.03	-19.5176	20.0137	0.97470	0.0:1.0:0.0:0.0	.	676;810	Q86WM7;O75626	.;PRDM1_HUMAN	V	774;810;773;676	ENSP00000358087:L774V;ENSP00000358092:L810V;ENSP00000358085:L676V	ENSP00000358085:L676V	L	+	1	2	PRDM1	106662004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.512000	0.60469	2.734000	0.93682	0.563000	0.77884	CTG		0.433	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			16	103	0	0	0	1	0	16	103				
SV2A	9900	broad.mit.edu	37	1	149879277	149879277	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:149879277G>A	ENST00000369146.3	-	10	2143	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	SV2A_ENST00000369145.1_Silent_p.F551F	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	551					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGTGTTGATGAATGTGCAGT	0.483																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(1651-1653)ttC>ttT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						187.0	157.0	167.0					1																	149879277		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149879277G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1653C>T	1.37:g.149879277G>A						SV2A_ENST00000369145.1_Silent_p.F551F	p.F551F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	2143	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		551					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.1653C>T	CCDS940.1																																																																																				0.483	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			15	121	0	0	0	1	0	15	121				
ITGA7	3679	broad.mit.edu	37	12	56086664	56086664	+	Silent	SNP	T	T	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:56086664T>G	ENST00000555728.1	-	22	2968	c.2940A>C	c.(2938-2940)ccA>ccC	p.P980P	ITGA7_ENST00000394229.2_Silent_p.P936P|ITGA7_ENST00000257879.6_Silent_p.P936P|ITGA7_ENST00000257880.7_Silent_p.P980P|ITGA7_ENST00000553804.1_Silent_p.P940P|ITGA7_ENST00000394230.2_Silent_p.P940P|ITGA7_ENST00000452168.2_Silent_p.P843P|ITGA7_ENST00000347027.6_Silent_p.P930P			Q13683	ITA7_HUMAN	integrin, alpha 7	980					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGAGGACACTGGCCACCAGG	0.637																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2938-2940)ccA>ccC		integrin, alpha 7							43.0	39.0	40.0					12																	56086664		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56086664T>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2940A>C	12.37:g.56086664T>G						ITGA7_ENST00000452168.2_Silent_p.P843P|ITGA7_ENST00000394230.2_Silent_p.P940P|ITGA7_ENST00000553804.1_Silent_p.P940P|ITGA7_ENST00000347027.6_Silent_p.P930P|ITGA7_ENST00000555728.1_Silent_p.P980P|ITGA7_ENST00000257879.6_Silent_p.P936P|ITGA7_ENST00000394229.2_Silent_p.P936P	p.P980P			Q13683	ITA7_HUMAN			22	3159	-			980					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2940A>C																																																																																					0.637	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	20	0	0	0	1	0	7	20				
FAT1	2195	broad.mit.edu	37	4	187524602	187524602	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:187524602T>C	ENST00000441802.2	-	19	11287	c.11078A>G	c.(11077-11079)gAc>gGc	p.D3693G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3693					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						AAGTAAGACGTCCAGATGTGG	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(11077-11079)gAc>gGc		FAT atypical cadherin 1							68.0	67.0	68.0					4																	187524602		1951	4151	6102	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524602T>C	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.11078A>G	4.37:g.187524602T>C	ENSP00000406229:p.Asp3693Gly	HNSCC(5;0.00058)					p.D3693G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			19	11287	-			3693						Missense_Mutation	SNP	ENST00000441802.2	37	c.11078A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051023	0.55218	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.56103	0.48	4.88	4.88	0.63580	.	0.050041	0.85682	D	0.000000	T	0.66992	0.2846	M	0.80422	2.495	0.80722	D	1	P	0.47962	0.903	P	0.52386	0.697	T	0.73251	-0.4042	10	0.72032	D	0.01	.	14.6484	0.68777	0.0:0.0:0.0:1.0	.	3693	Q14517	FAT1_HUMAN	G	3693;3695	ENSP00000406229:D3693G	ENSP00000260147:D3695G	D	-	2	0	FAT1	187761596	1.000000	0.71417	0.989000	0.46669	0.401000	0.30781	7.868000	0.87116	2.052000	0.61016	0.460000	0.39030	GAC		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	40	0	0	0	1	0	14	40				
SGPP1	81537	broad.mit.edu	37	14	64194623	64194623	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:64194623G>C	ENST00000247225.6	-	1	134	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	14					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GGGTCCTGCAGACGGCCAACC	0.721																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(40-42)Ctg>Gtg		sphingosine-1-phosphate phosphatase 1							4.0	4.0	4.0					14																	64194623		1746	3581	5327	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64194623G>C	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.40C>G	14.37:g.64194623G>C	ENSP00000247225:p.Leu14Val						p.L14V	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	1	134	-			14					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.40C>G	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803978	0.50315	.	.	ENSG00000126821	ENST00000247225	.	.	.	3.86	0.363	0.16118	.	0.191127	0.33217	U	0.005152	T	0.34600	0.0903	L	0.58810	1.83	0.20975	N	0.999819	D	0.54397	0.966	P	0.48598	0.583	T	0.27400	-1.0075	9	0.87932	D	0	-39.6985	4.2943	0.10894	0.413:0.0:0.4388:0.1482	.	14	Q9BX95	SGPP1_HUMAN	V	14	.	ENSP00000247225:L14V	L	-	1	2	SGPP1	63264376	0.173000	0.23056	0.060000	0.19600	0.702000	0.40608	0.387000	0.20718	-0.289000	0.09038	0.298000	0.19748	CTG		0.721	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		3	5	0	0	0	1	0	3	5				
OBSCN	84033	broad.mit.edu	37	1	228402696	228402696	+	Silent	SNP	C	C	T	rs374799747	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:228402696C>T	ENST00000422127.1	+	5	1769	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	OBSCN_ENST00000570156.2_Silent_p.T575T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T575T|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_5'Flank	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	575	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCTGACCGTGGCTGATG	0.587													C|||	7	0.00139776	0.0045	0.0	5008	,	,		18988	0.0		0.0	False		,,,				2504	0.001					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1723-1725)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	12,4158		0,12,2073	51.0	62.0	59.0		1725,1725	-8.8	0.0	1		59	2,8400		0,2,4199	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,14,6272	TT,TC,CC		0.0238,0.2878,0.1114	,	575/7969,575/6621	228402696	14,12558	2085	4201	6286	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228402696C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1725C>T	1.37:g.228402696C>T						OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T575T|OBSCN_ENST00000422127.1_Silent_p.T575T|OBSCN_ENST00000366707.4_5'UTR	p.T575T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			5	1799	+		Prostate(94;0.0405)	575			Fibronectin type-III 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.1725C>T	CCDS58065.1																																																																																				0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	25	0	0	0	1	0	11	25				
SEPT6	23157	broad.mit.edu	37	X	118787004	118787004	+	Splice_Site	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:118787004C>T	ENST00000343984.5	-	4	606		c.e4-1		SEPT6_ENST00000394610.1_Splice_Site|SEPT6_ENST00000354228.4_Splice_Site|SEPT6_ENST00000394617.2_Splice_Site|SEPT6_ENST00000489216.1_Splice_Site|SEPT6_ENST00000354416.3_Splice_Site|SEPT6_ENST00000394616.4_Splice_Site|SEPT6_ENST00000360156.7_Splice_Site	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6						cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						AGGCTTGTAGCTAAAAGGGAG	0.483			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.e4-1		septin 6							137.0	106.0	117.0					X																	118787004		2203	4300	6503	SO:0001630	splice_region_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118787004C>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.342-1G>A	X.37:g.118787004C>T						SEPT6_ENST00000394617.2_Splice_Site|SEPT6_ENST00000354416.3_Splice_Site|SEPT6_ENST00000394616.4_Splice_Site|SEPT6_ENST00000343984.5_Splice_Site|SEPT6_ENST00000354228.4_Splice_Site|SEPT6_ENST00000360156.7_Splice_Site|SEPT6_ENST00000489216.1_Splice_Site		NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			4	606	-								Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Splice_Site	SNP	ENST00000343984.5	37		CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571105	0.45798	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3367	0.87283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPT6	118671032	1.000000	0.71417	0.994000	0.49952	0.219000	0.24729	5.765000	0.68834	2.308000	0.77769	0.544000	0.68410	.		0.483	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802	Intron	15	76	0	0	0	1	0	15	76				
SEC13	6396	broad.mit.edu	37	3	10357041	10357041	+	Missense_Mutation	SNP	C	C	T	rs201150723		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:10357041C>T	ENST00000350697.3	-	3	253	c.128G>A	c.(127-129)cGc>cAc	p.R43H	SEC13_ENST00000383801.2_Missense_Mutation_p.R89H|SEC13_ENST00000397109.3_Missense_Mutation_p.R29H|SEC13_ENST00000397117.1_Missense_Mutation_p.R29H|SEC13_ENST00000337354.4_Missense_Mutation_p.R46H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	43					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.R43H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CCCTCCATTGCGCACATCAAA	0.592																																						ENST00000397117.1																			1	Substitution - Missense(1)	p.R43H(1)	ovary(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(85-87)cGc>cAc		SEC13 homolog (S. cerevisiae)							79.0	70.0	73.0					3																	10357041		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10357041C>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.128G>A	3.37:g.10357041C>T	ENSP00000312122:p.Arg43His					SEC13_ENST00000397109.3_Missense_Mutation_p.R29H|SEC13_ENST00000337354.4_Missense_Mutation_p.R46H|SEC13_ENST00000383801.2_Missense_Mutation_p.R89H|SEC13_ENST00000350697.3_Missense_Mutation_p.R43H	p.R29H			P55735	SEC13_HUMAN			3	677	-			43					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.86G>A	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517390	0.64634	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352;ENST00000397102;ENST00000397101;ENST00000397099	T;T;T;T;T;T	0.81415	-0.18;-0.18;-0.18;-1.49;-1.49;-1.49	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155329	0.53938	D	0.000044	T	0.64316	0.2587	L	0.35341	1.055	0.58432	D	0.999999	D;P;P;D;P	0.56968	0.963;0.853;0.76;0.978;0.695	B;B;B;B;B	0.30316	0.114;0.111;0.111;0.08;0.045	T	0.70633	-0.4818	10	0.56958	D	0.05	.	10.4748	0.44659	0.0:0.9127:0.0:0.0873	.	43;43;29;89;43	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	29;46;43;29;89;43;46;43;43;89	ENSP00000380298:R29H;ENSP00000336566:R46H;ENSP00000312122:R43H;ENSP00000380306:R29H;ENSP00000373312:R89H;ENSP00000401368:R46H	ENSP00000336566:R46H	R	-	2	0	SEC13	10332041	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.572000	0.53849	2.617000	0.88574	0.655000	0.94253	CGC		0.592	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			9	33	0	0	0	1	0	9	33				
GLTP	51228	broad.mit.edu	37	12	110290475	110290475	+	Missense_Mutation	SNP	G	G	A	rs548487246	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:110290475G>A	ENST00000318348.4	-	5	628	c.515C>T	c.(514-516)aCg>aTg	p.T172M	GLTP_ENST00000544393.1_Missense_Mutation_p.T153M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	172					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		CTCCTCCTCCGTAACATTCTG	0.542											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	3	0.000599042	0.0	0.0	5008	,	,		16546	0.0		0.0	False		,,,				2504	0.0031					ENST00000318348.4																			0				endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(514-516)aCg>aTg		glycolipid transfer protein							278.0	262.0	267.0					12																	110290475		2203	4300	6503	SO:0001583	missense	51228					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr12:110290475G>A	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.515C>T	12.37:g.110290475G>A	ENSP00000315263:p.Thr172Met		OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1426	GLTP_ENST00000544393.1_Missense_Mutation_p.T153M	p.T172M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0025)	5	628	-		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)	172					Q53Z13|Q96J68	Missense_Mutation	SNP	ENST00000318348.4	37	c.515C>T	CCDS9136.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523652	0.44866	.	.	ENSG00000139433	ENST00000318348;ENST00000544393	.	.	.	5.11	5.11	0.69529	Glycolipid transfer protein domain (2);	0.149748	0.64402	D	0.000019	T	0.39655	0.1086	N	0.14661	0.345	0.42082	D	0.991253	B	0.13145	0.007	B	0.09377	0.004	T	0.28427	-1.0044	9	0.46703	T	0.11	.	11.5476	0.50702	0.0:0.0:0.7218:0.2782	.	172	Q9NZD2	GLTP_HUMAN	M	172;153	.	ENSP00000315263:T172M	T	-	2	0	GLTP	108774858	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	6.320000	0.72876	2.546000	0.85860	0.650000	0.86243	ACG		0.542	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2	NM_016433		66	304	0	0	0	1	0	66	304				
PRKCD	5580	broad.mit.edu	37	3	53215501	53215501	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:53215501C>T	ENST00000394729.2	+	5	746	c.418C>T	c.(418-420)Cca>Tca	p.P140S	PRKCD_ENST00000330452.3_Missense_Mutation_p.P140S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	140					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GGCCAAGTTCCCAACGATGAA	0.537																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(418-420)Cca>Tca		protein kinase C, delta							126.0	113.0	117.0					3																	53215501		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53215501C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.418C>T	3.37:g.53215501C>T	ENSP00000378217:p.Pro140Ser					PRKCD_ENST00000330452.3_Missense_Mutation_p.P140S	p.P140S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	5	746	+		Ovarian(412;0.0728)	140					B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.418C>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	c	8.445	0.851762	0.17034	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000464818	T;T;D	0.82255	-0.34;-0.34;-1.59	5.14	4.22	0.49857	.	0.277274	0.40064	N	0.001198	T	0.65688	0.2715	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.16396	0.017;0.001	B;B	0.09377	0.004;0.003	T	0.47249	-0.9132	10	0.09084	T	0.74	.	5.7992	0.18403	0.2999:0.6006:0.0:0.0995	.	140;140	C9K0E3;Q05655	.;KPCD_HUMAN	S	140	ENSP00000378217:P140S;ENSP00000331602:P140S;ENSP00000419629:P140S	ENSP00000331602:P140S	P	+	1	0	PRKCD	53190541	0.015000	0.18098	0.299000	0.25016	0.963000	0.63663	1.156000	0.31712	1.223000	0.43536	0.556000	0.70494	CCA		0.537	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			9	39	0	0	0	1	0	9	39				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	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	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)	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	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				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	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	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		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)	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)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	.|.	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	CDKN2A|CDKN2A	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		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	14	0	0	0	1	0	6	14				
GRIK1	2897	broad.mit.edu	37	21	31066223	31066223	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr21:31066223G>A	ENST00000399907.1	-	2	689	c.278C>T	c.(277-279)tCg>tTg	p.S93L	GRIK1_ENST00000399914.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S93L|GRIK1_ENST00000327783.4_Missense_Mutation_p.S93L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.S93L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389124.2_Missense_Mutation_p.S93L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S93L|GRIK1_ENST00000309434.7_Missense_Mutation_p.S93L	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	93					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ACCTCTCCGCGAGGCTTCAAA	0.423																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(277-279)tCg>tTg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						120.0	116.0	117.0					21																	31066223		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31066223G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.278C>T	21.37:g.31066223G>A	ENSP00000382791:p.Ser93Leu					GRIK1_ENST00000389124.2_Missense_Mutation_p.S93L|GRIK1_ENST00000399907.1_Missense_Mutation_p.S93L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S93L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S93L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S93L|GRIK1_ENST00000309434.7_Missense_Mutation_p.S93L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.S93L	p.S93L			P39086	GRIK1_HUMAN			2	799	-			93					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.278C>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197641	0.94997	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.986;0.997	P;P;P;P	0.51945	0.685;0.685;0.595;0.46	T	0.42447	-0.9451	10	0.87932	D	0	.	18.3733	0.90420	0.0:0.0:1.0:0.0	.	93;93;93;93	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	L	93	ENSP00000327687:S93L;ENSP00000373777:S93L;ENSP00000382797:S93L;ENSP00000382798:S93L;ENSP00000446326:S93L;ENSP00000373776:S93L;ENSP00000382791:S93L;ENSP00000382793:S93L;ENSP00000311646:S93L	ENSP00000311646:S93L	S	-	2	0	GRIK1	29988094	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	9.549000	0.98106	2.669000	0.90835	0.655000	0.94253	TCG		0.423	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			22	86	0	0	0	1	0	22	86				
ADAR	103	broad.mit.edu	37	1	154569319	154569319	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:154569319G>C	ENST00000368474.4	-	6	2431	c.2232C>G	c.(2230-2232)ttC>ttG	p.F744L	ADAR_ENST00000368471.3_Missense_Mutation_p.F449L|ADAR_ENST00000292205.5_Missense_Mutation_p.F787L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	744	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGACCAACTTGAATTCAGCAG	0.562																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2230-2232)ttC>ttG		adenosine deaminase, RNA-specific							112.0	95.0	101.0					1																	154569319		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154569319G>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2232C>G	1.37:g.154569319G>C	ENSP00000357459:p.Phe744Leu					ADAR_ENST00000292205.5_Missense_Mutation_p.F787L|ADAR_ENST00000368471.3_Missense_Mutation_p.F449L	p.F744L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	6	2431	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		744			DRBM 3.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2232C>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712577	0.89112	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.27	5.27	0.74061	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.051373	0.85682	D	0.000000	D	0.88020	0.6325	M	0.87682	2.9	0.54753	D	0.999989	P;P;D	0.63046	0.532;0.532;0.992	B;B;D	0.76071	0.264;0.264;0.987	D	0.87179	0.2226	10	0.39692	T	0.17	-22.8814	12.4047	0.55432	0.0763:0.0:0.9237:0.0	.	725;744;744	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	L	787;744;449;739	ENSP00000292205:F787L;ENSP00000357459:F744L;ENSP00000357456:F449L;ENSP00000431794:F739L	ENSP00000292205:F787L	F	-	3	2	ADAR	152835943	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.843000	0.69424	2.733000	0.93635	0.462000	0.41574	TTC		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		9	71	0	0	0	1	0	9	71				
LRFN2	57497	broad.mit.edu	37	6	40360117	40360117	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:40360117G>A	ENST00000338305.6	-	3	2477	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	645						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S645S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCGCGGGGCGGAGGGTGGGA	0.711																																						ENST00000338305.6																			1	Substitution - coding silent(1)	p.S645S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1933-1935)tcC>tcT		leucine rich repeat and fibronectin type III domain containing 2							6.0	7.0	7.0					6																	40360117		2132	4195	6327	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360117G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1935C>T	6.37:g.40360117G>A							p.S645S	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2477	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		645					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.1935C>T	CCDS34443.1																																																																																				0.711	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		4	15	0	0	0	1	0	4	15				
MXI1	4601	broad.mit.edu	37	10	111988081	111988081	+	Splice_Site	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:111988081T>C	ENST00000239007.7	+	2	424		c.e2+2		MXI1_ENST00000485566.1_Splice_Site|MXI1_ENST00000361248.4_Splice_Site|MXI1_ENST00000332674.5_Splice_Site|MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000393134.1_Splice_Site	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCCAACAGGTAGCAAGCTGG	0.572																																						ENST00000332674.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.e2+2		MAX interactor 1, dimerization protein							51.0	48.0	49.0					10																	111988081		2203	4300	6503	SO:0001630	splice_region_variant	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:111988081T>C	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.206+2T>C	10.37:g.111988081T>C						MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000361248.4_Splice_Site|MXI1_ENST00000393134.1_Splice_Site|MXI1_ENST00000485566.1_Splice_Site|MXI1_ENST00000239007.7_Splice_Site		NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	2	611	+		Breast(234;0.052)|Lung NSC(174;0.223)						B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Splice_Site	SNP	ENST00000239007.7	37		CCDS7564.2	.	.	.	.	.	.	.	.	.	.	t	10.11	1.261668	0.23051	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000442296;ENST00000369612	.	.	.	4.65	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6269	0.17487	0.0:0.273:0.0:0.727	.	.	.	.	.	-1	.	.	.	+	.	.	MXI1	111978071	1.000000	0.71417	0.422000	0.26621	0.493000	0.33554	4.854000	0.62918	0.632000	0.30432	0.364000	0.22116	.		0.572	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439	Intron	4	37	0	0	0	1	0	4	37				
FLT4	2324	broad.mit.edu	37	5	180043378	180043378	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:180043378G>A	ENST00000261937.6	-	23	3286	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	FLT4_ENST00000393347.3_Missense_Mutation_p.R1070C|FLT4_ENST00000502649.1_Missense_Mutation_p.R1070C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1070	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCCCTTGCGGACGTAGTCG	0.602																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3208-3210)Cgc>Tgc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						114.0	103.0	107.0					5																	180043378		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043378G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3208C>T	5.37:g.180043378G>A	ENSP00000261937:p.Arg1070Cys					FLT4_ENST00000393347.3_Missense_Mutation_p.R1070C|FLT4_ENST00000502649.1_Missense_Mutation_p.R1070C	p.R1070C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3286	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1070			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3208C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943516	0.53079	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	3.19	2.2	0.27929	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.84938	0.5583	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85059	0.0933	9	0.87932	D	0	.	10.0559	0.42244	0.0:0.0:0.7079:0.2921	.	1070;1070	E9PD35;P35916	.;VGFR3_HUMAN	C	1070;1070;1070;108	ENSP00000261937:R1070C;ENSP00000377016:R1070C;ENSP00000426057:R1070C;ENSP00000421535:R108C	ENSP00000261937:R1070C	R	-	1	0	FLT4	179975984	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	4.611000	0.61162	1.807000	0.52817	0.491000	0.48974	CGC		0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			10	52	0	0	0	1	0	10	52				
OR7A5	26659	broad.mit.edu	37	19	14938848	14938848	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:14938848G>A	ENST00000322301.3	-	2	293	c.206C>T	c.(205-207)gCt>gTt	p.A69V	OR7A5_ENST00000594432.1_Missense_Mutation_p.A69V|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	69					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACAAATGTCAGCAAAGGACAG	0.493																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(205-207)gCt>gTt		olfactory receptor, family 7, subfamily A, member 5							163.0	146.0	151.0					19																	14938848		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938848G>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.206C>T	19.37:g.14938848G>A	ENSP00000316955:p.Ala69Val					OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.A69V	p.A69V			Q15622	OR7A5_HUMAN			2	293	-			69					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.206C>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.888899	0.00527	.	.	ENSG00000188269	ENST00000322301	T	0.02837	4.14	3.13	-3.5	0.04710	GPCR, rhodopsin-like superfamily (1);	1.501620	0.05731	U	0.599576	T	0.00845	0.0028	N	0.01417	-0.88	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41840	-0.9486	10	0.02654	T	1	.	1.1306	0.01744	0.3839:0.1552:0.3093:0.1516	.	69	Q15622	OR7A5_HUMAN	V	69	ENSP00000316955:A69V	ENSP00000316955:A69V	A	-	2	0	OR7A5	14799848	0.000000	0.05858	0.000000	0.03702	0.494000	0.33585	-0.440000	0.06888	-1.085000	0.03088	0.134000	0.15878	GCT		0.493	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		17	143	0	0	0	1	0	17	143				
TRBV24-1	28563	broad.mit.edu	37	7	142364624	142364624	+	RNA	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:142364624C>T	ENST00000390397.2	+	0	295									T cell receptor beta variable 24-1																		CAGTGTCTCTCGACAGGCACA	0.478																																						ENST00000390397.2																			0																				80.0	78.0	78.0					7																	142364624		1931	4137	6068			28563							g.chr7:142364624C>T	M11951		7q34	2012-02-07			ENSG00000211750	ENSG00000211750		"""T cell receptors / TRB locus"""	12203	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV241, TCRBV15S1, TCRBV24S1			OTTHUMG00000158889		7.37:g.142364624C>T														0	295	+									RNA	SNP	ENST00000390397.2	37																																																																																						0.478	TRBV24-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352499.1	NG_001333		7	26	0	0	0	1	0	7	26				
PLCG1	5335	broad.mit.edu	37	20	39794930	39794930	+	Silent	SNP	C	C	G	rs139798242	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:39794930C>G	ENST00000373271.1	+	17	2301	c.1896C>G	c.(1894-1896)ctC>ctG	p.L632L	PLCG1_ENST00000244007.3_Silent_p.L632L|PLCG1_ENST00000373272.2_Silent_p.L632L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	632	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TTGACTCCCTCTATGACCTCA	0.567																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(1894-1896)ctC>ctG		phospholipase C, gamma 1							102.0	93.0	96.0					20																	39794930		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39794930C>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1896C>G	20.37:g.39794930C>G						PLCG1_ENST00000373271.1_Silent_p.L632L|PLCG1_ENST00000244007.3_Silent_p.L632L	p.L632L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			17	2301	+		Myeloproliferative disorder(115;0.00878)	632			SH2 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.1896C>G	CCDS13314.1																																																																																				0.567	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		13	63	0	0	0	1	0	13	63				
LSR	51599	broad.mit.edu	37	19	35757744	35757744	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:35757744C>T	ENST00000361790.3	+	8	1321	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	LSR_ENST00000354900.3_Missense_Mutation_p.R369C|LSR_ENST00000360798.3_Missense_Mutation_p.R320C|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Missense_Mutation_p.R232C|LSR_ENST00000602122.1_Missense_Mutation_p.R368C|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000347609.4_Missense_Mutation_p.R330C|USF2_ENST00000343550.5_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	388					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTAGAAGTCCGCAGTGGCTA	0.602																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(1102-1104)Cgc>Tgc		lipolysis stimulated lipoprotein receptor							44.0	41.0	42.0					19																	35757744		2201	4300	6501	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757744C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1162C>T	19.37:g.35757744C>T	ENSP00000354575:p.Arg388Cys					LSR_ENST00000354900.3_Missense_Mutation_p.R369C|LSR_ENST00000360798.3_Missense_Mutation_p.R320C|LSR_ENST00000427250.1_Missense_Mutation_p.R232C|LSR_ENST00000347609.4_Missense_Mutation_p.R330C|LSR_ENST00000361790.3_Missense_Mutation_p.R388C	p.R368C			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1589	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		388					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1102C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088076	0.55968	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;D	0.87809	-0.18;0.06;-1.05;-0.05;-2.3	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;0.999;0.999	D	0.92846	0.6293	10	0.87932	D	0	-18.7974	15.115	0.72394	0.0:1.0:0.0:0.0	.	326;330;368;320;369;388	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	C	388;369;320;330;232	ENSP00000354575:R388C;ENSP00000346976:R369C;ENSP00000354034:R320C;ENSP00000262627:R330C;ENSP00000394479:R232C	ENSP00000262627:R330C	R	+	1	0	LSR	40449584	1.000000	0.71417	0.113000	0.21522	0.005000	0.04900	4.913000	0.63341	2.390000	0.81377	0.655000	0.94253	CGC		0.602	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		6	11	0	0	0	1	0	6	11				
GABARAPL1	23710	broad.mit.edu	37	12	10374431	10374431	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:10374431G>C	ENST00000266458.5	+	4	659	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	GABARAPL1_ENST00000535576.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.E112Q|GABARAPL1_ENST00000546017.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.E22Q	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	112					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						CTACAGTGATGAGAGTGTCTA	0.478																																					Melanoma(3;46 76 4652 22680 42285)	ENST00000546017.1																			0				NS(1)|lung(1)	2						c.(64-66)Gag>Cag		GABA(A) receptor-associated protein like 1							115.0	106.0	109.0					12																	10374431		2203	4300	6503	SO:0001583	missense	23710					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding	g.chr12:10374431G>C	AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.334G>C	12.37:g.10374431G>C	ENSP00000266458:p.Glu112Gln					GABARAPL1_ENST00000266458.5_Missense_Mutation_p.E112Q|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.E112Q|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.E22Q	p.E22Q			Q9H0R8	GBRL1_HUMAN			4	1003	+			112			Interaction with beta-tubulin (By similarity).		B4E0Y7|Q6FIE6	Missense_Mutation	SNP	ENST00000266458.5	37	c.64G>C	CCDS8620.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754893	0.69648	.	.	ENSG00000139112	ENST00000266458;ENST00000544284;ENST00000545887;ENST00000546017;ENST00000535576;ENST00000539170	T;T;T;T;T;T	0.50001	0.76;0.79;0.76;0.79;0.79;0.79	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.61218	1.895	0.37828	D	0.928623	P	0.51933	0.949	P	0.61940	0.896	T	0.67393	-0.5682	10	0.48119	T	0.1	.	16.7377	0.85451	0.0:0.0:1.0:0.0	.	112	Q9H0R8	GBRL1_HUMAN	Q	112;22;112;22;22;22	ENSP00000266458:E112Q;ENSP00000439734:E22Q;ENSP00000444186:E112Q;ENSP00000446456:E22Q;ENSP00000444738:E22Q;ENSP00000444209:E22Q	ENSP00000266458:E112Q	E	+	1	0	GABARAPL1	10265698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.443000	0.97568	2.547000	0.85894	0.655000	0.94253	GAG		0.478	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1			5	54	0	0	0	1	0	5	54				
DIS3L2	129563	broad.mit.edu	37	2	233028272	233028272	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:233028272C>G	ENST00000409307.1	+	8	1054	c.1054C>G	c.(1054-1056)Cta>Gta	p.L352V	DIS3L2_ENST00000325385.7_Missense_Mutation_p.L352V|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L352V					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCAGAAGTTCTAGAATGTCT	0.453																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1054-1056)Cta>Gta		DIS3 mitotic control homolog (S. cerevisiae)-like 2							93.0	97.0	95.0					2																	233028272		1886	4105	5991	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233028272C>G	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1054C>G	2.37:g.233028272C>G	ENSP00000386799:p.Leu352Val					DIS3L2_ENST00000273009.6_Missense_Mutation_p.L352V|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L352V	p.L352V	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	9	1330	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	352						Missense_Mutation	SNP	ENST00000409307.1	37	c.1054C>G	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521055	0.64747	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307	T;T;T	0.50001	1.32;0.76;0.76	5.36	3.53	0.40419	.	0.000000	0.64402	D	0.000005	T	0.59074	0.2167	M	0.85462	2.755	0.80722	D	1	P	0.47604	0.898	P	0.50490	0.642	T	0.61662	-0.7017	10	0.72032	D	0.01	-6.6843	8.4594	0.32919	0.0:0.7645:0.0:0.2355	.	352	Q8IYB7	DI3L2_HUMAN	V	352	ENSP00000273009:L352V;ENSP00000315569:L352V;ENSP00000386799:L352V	ENSP00000273009:L352V	L	+	1	2	DIS3L2	232736516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.606000	0.46291	0.599000	0.29845	0.557000	0.71058	CTA		0.453	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		9	40	0	0	0	1	0	9	40				
BAI3	577	broad.mit.edu	37	6	69666071	69666071	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:69666071G>C	ENST00000370598.1	+	7	2172	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	451	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTATAACCCTGAATGTACAGG	0.512																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1351-1353)Gaa>Caa		brain-specific angiogenesis inhibitor 3							59.0	53.0	55.0					6																	69666071		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666071G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1351G>C	6.37:g.69666071G>C	ENSP00000359630:p.Glu451Gln						p.E451Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			7	2172	+		all_lung(197;0.212)	451			TSP type-1 3.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1351G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457782	0.26161	.	.	ENSG00000135298	ENST00000370598	T	0.55234	0.53	5.71	5.71	0.89125	.	0.111285	0.64402	D	0.000013	T	0.31606	0.0802	L	0.37897	1.145	0.80722	D	1	B	0.19445	0.036	B	0.19391	0.025	T	0.12863	-1.0531	10	0.19590	T	0.45	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	451	O60242	BAI3_HUMAN	Q	451	ENSP00000359630:E451Q	ENSP00000359630:E451Q	E	+	1	0	BAI3	69722792	1.000000	0.71417	0.990000	0.47175	0.771000	0.43674	7.639000	0.83342	2.701000	0.92244	0.591000	0.81541	GAA		0.512	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	32	0	0	0	1	0	12	32				
C2orf54	79919	broad.mit.edu	37	2	241835205	241835205	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:241835205G>A	ENST00000388934.4	-	1	368	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	70										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCGCAGGGCGAACTGGAAGG	0.657																																						ENST00000388934.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(208-210)ttC>ttT		chromosome 2 open reading frame 54							28.0	32.0	31.0					2																	241835205		2119	4223	6342	SO:0001819	synonymous_variant	79919							g.chr2:241835205G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.210C>T	2.37:g.241835205G>A							p.F70F	NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	368	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	70					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.210C>T	CCDS42839.1																																																																																				0.657	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		10	30	0	0	0	1	0	10	30				
EVPL	2125	broad.mit.edu	37	17	74005808	74005808	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:74005808C>T	ENST00000301607.3	-	22	3731	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1182K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1160	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCTCCTCCTCGAGGAGGCTC	0.622																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3478-3480)Gag>Aag		envoplakin							42.0	39.0	40.0					17																	74005808		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005808C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3478G>A	17.37:g.74005808C>T	ENSP00000301607:p.Glu1160Lys					EVPL_ENST00000586740.1_Missense_Mutation_p.E1182K	p.E1160K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3731	-			1160			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3478G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216128	0.39201	.	.	ENSG00000167880	ENST00000301607	T	0.42900	0.96	5.14	4.15	0.48705	.	0.158962	0.53938	D	0.000045	T	0.37785	0.1016	M	0.64404	1.975	0.43010	D	0.994546	P;P	0.49696	0.927;0.783	B;B	0.34452	0.183;0.058	T	0.47509	-0.9112	10	0.54805	T	0.06	-37.8342	15.8029	0.78471	0.0:0.8637:0.1363:0.0	.	1182;1160	B7ZLH8;Q92817	.;EVPL_HUMAN	K	1160	ENSP00000301607:E1160K	ENSP00000301607:E1160K	E	-	1	0	EVPL	71517403	1.000000	0.71417	0.963000	0.40424	0.257000	0.26127	4.914000	0.63348	1.149000	0.42402	0.485000	0.47835	GAG		0.622	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		8	56	0	0	0	1	0	8	56				
NLGN3	54413	broad.mit.edu	37	X	70375176	70375176	+	Silent	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:70375176C>G	ENST00000358741.3	+	5	993	c.690C>G	c.(688-690)gtC>gtG	p.V230V	NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.V210V	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	230					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.V230V(1)|p.V210V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGGCAATGTCATCGTCATCA	0.542																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			2	Substitution - coding silent(2)	p.V230V(1)|p.V210V(1)	lung(2)	biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(628-630)gtC>gtG		neuroligin 3							302.0	195.0	231.0					X																	70375176		2203	4300	6503	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375176C>G	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.690C>G	X.37:g.70375176C>G						NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.V230V	p.V210V	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			4	952	+	Renal(35;0.156)		230					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.630C>G	CCDS55441.1																																																																																				0.542	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		6	105	0	0	0	1	0	6	105				
NDUFS5	4725	broad.mit.edu	37	1	39494450	39494450	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:39494450G>C	ENST00000372969.3	+	2	141	c.54G>C	c.(52-54)ttG>ttC	p.L18F	NDUFS5_ENST00000372967.3_Missense_Mutation_p.L18F	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	18					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			ATCGATGGTTGACAATCCAGA	0.408																																						ENST00000372969.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5						c.(52-54)ttG>ttC		NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						99.0	93.0	95.0					1																	39494450		2203	4300	6503	SO:0001583	missense	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39494450G>C	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.54G>C	1.37:g.39494450G>C	ENSP00000362060:p.Leu18Phe					NDUFS5_ENST00000372967.3_Missense_Mutation_p.L18F	p.L18F	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		2	141	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	18						Missense_Mutation	SNP	ENST00000372969.3	37	c.54G>C	CCDS434.1	.	.	.	.	.	.	.	.	.	.	G	6.687	0.495429	0.12762	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	T;T	0.80909	-1.43;-1.43	5.82	3.91	0.45181	.	0.642453	0.17084	N	0.187661	T	0.65080	0.2657	N	0.16656	0.425	0.24605	N	0.993758	B	0.06786	0.001	B	0.09377	0.004	T	0.52845	-0.8521	10	0.33940	T	0.23	-3.8622	8.7642	0.34694	0.0791:0.0:0.7661:0.1548	.	18	O43920	NDUS5_HUMAN	F	18	ENSP00000362060:L18F;ENSP00000362058:L18F	ENSP00000362058:L18F	L	+	3	2	NDUFS5	39267037	1.000000	0.71417	0.693000	0.30195	0.037000	0.13140	1.763000	0.38461	0.774000	0.33427	0.655000	0.94253	TTG		0.408	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		8	110	0	0	0	1	0	8	110				
KIF1A	547	broad.mit.edu	37	2	241659322	241659322	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:241659322C>T	ENST00000320389.7	-	44	4745	c.4587G>A	c.(4585-4587)cgG>cgA	p.R1529R	KIF1A_ENST00000498729.2_Silent_p.R1630R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1529					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCTGGCTGGCCGGGAGCAGG	0.706																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4888-4890)cgG>cgA		kinesin family member 1A							26.0	35.0	32.0					2																	241659322		1995	4173	6168	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241659322C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4587G>A	2.37:g.241659322C>T						KIF1A_ENST00000320389.7_Silent_p.R1529R	p.R1630R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	46	5136	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1529			PH.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.4890G>A	CCDS46561.1																																																																																				0.706	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	33	0	0	0	1	0	4	33				
SEMG1	6406	broad.mit.edu	37	20	43836061	43836061	+	Silent	SNP	C	C	T	rs202058933		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:43836061C>T	ENST00000372781.3	+	2	180	c.123C>T	c.(121-123)caC>caT	p.H41H	SEMG1_ENST00000244069.6_Silent_p.H41H	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	41					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATTTCCACACGGACAAAAGG	0.393													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19697	0.0		0.0	False		,,,				2504	0.0					ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(121-123)caC>caT		semenogelin I		T		1,4405	2.1+/-5.4	0,1,2202	113.0	117.0	116.0		123	-0.6	0.0	20		116	0,8600		0,0,4300	no	coding-synonymous	SEMG1	NM_003007.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		41/463	43836061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836061C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.123C>T	20.37:g.43836061C>T						SEMG1_ENST00000244069.6_Silent_p.H41H	p.H41H	NM_003007.3	NP_002998.1					2	180	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.123C>T	CCDS13345.1																																																																																				0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		24	126	0	0	0	1	0	24	126				
SPIN4	139886	broad.mit.edu	37	X	62570071	62570071	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:62570071C>G	ENST00000335144.3	-	1	1147	c.628G>C	c.(628-630)Gat>Cat	p.D210H	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.D192H	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	210					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GACCCGTCATCTTTGGCATGC	0.448																																						ENST00000374884.2																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(574-576)Gat>Cat		spindlin family, member 4							113.0	109.0	110.0					X																	62570071		1980	4140	6120	SO:0001583	missense	139886				gamete generation			g.chrX:62570071C>G	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.628G>C	X.37:g.62570071C>G	ENSP00000334163:p.Asp210His					SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.D210H	p.D192H			Q56A73	SPIN4_HUMAN			1	1152	-			210					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.574G>C	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576319	0.65878	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.46819	0.86;0.86	3.76	3.76	0.43208	.	0.000000	0.64402	D	0.000001	T	0.58779	0.2146	L	0.47190	1.495	0.46416	D	0.999039	D	0.57257	0.979	D	0.67382	0.951	T	0.62651	-0.6809	10	0.87932	D	0	-27.9861	12.6174	0.56584	0.0:1.0:0.0:0.0	.	210	Q56A73	SPIN4_HUMAN	H	192;210	ENSP00000364018:D192H;ENSP00000334163:D210H	ENSP00000334163:D210H	D	-	1	0	SPIN4	62486796	1.000000	0.71417	0.996000	0.52242	0.519000	0.34347	6.280000	0.72626	2.130000	0.65690	0.544000	0.68410	GAT		0.448	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		14	109	0	0	0	1	0	14	109				
EXOC3L1	283849	broad.mit.edu	37	16	67219151	67219151	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:67219151G>A	ENST00000314586.6	-	11	1877	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V	EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	546					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGCAGATCCGCGAACAGGGG	0.637																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1636-1638)gCg>gTg		exocyst complex component 3-like 1							48.0	59.0	55.0					16																	67219151		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67219151G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1637C>T	16.37:g.67219151G>A	ENSP00000325674:p.Ala546Val						p.A546V	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			11	1877	-			546					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1637C>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	5.742	0.321265	0.10845	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.06849	3.25;3.25	5.6	0.723	0.18231	.	0.810453	0.11678	N	0.540120	T	0.04770	0.0129	L	0.33485	1.01	0.09310	N	1	B;P;B	0.35684	0.229;0.515;0.113	B;B;B	0.21546	0.021;0.035;0.024	T	0.40327	-0.9569	10	0.28530	T	0.3	-1.7753	6.0241	0.19646	0.1086:0.0:0.4528:0.4386	.	443;443;546	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	V	546;443;448	ENSP00000325674:A546V;ENSP00000439910:A443V	ENSP00000325008:A448V	A	-	2	0	EXOC3L1	65776652	0.000000	0.05858	0.010000	0.14722	0.055000	0.15305	-0.157000	0.10085	0.280000	0.22209	0.563000	0.77884	GCG		0.637	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		15	66	0	0	0	1	0	15	66				
DTD1	92675	broad.mit.edu	37	20	18576734	18576734	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:18576734G>C	ENST00000377452.3	+	3	399	c.219G>C	c.(217-219)gaG>gaC	p.E73D	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	73					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						AACAGTACGAGATTCTGTGTG	0.502																																						ENST00000377452.3																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(217-219)gaG>gaC		D-tyrosyl-tRNA deacylase 1							137.0	112.0	121.0					20																	18576734		2203	4300	6503	SO:0001583	missense	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18576734G>C	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.219G>C	20.37:g.18576734G>C	ENSP00000366672:p.Glu73Asp					DTD1_ENST00000494921.1_3'UTR	p.E73D	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN			3	399	+			73					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	c.219G>C	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533100	0.64972	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	2.42	0.29668	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.64170	1.965	0.80722	D	1	P	0.35481	0.504	B	0.40009	0.316	T	0.53830	-0.8383	9	0.42905	T	0.14	-12.6113	9.541	0.39251	0.3118:0.0:0.6882:0.0	.	73	Q8TEA8	DTD1_HUMAN	D	73	.	ENSP00000366672:E73D	E	+	3	2	DTD1	18524734	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.105000	0.57797	0.807000	0.34208	0.655000	0.94253	GAG		0.502	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		6	80	0	0	0	1	0	6	80				
TNK2	10188	broad.mit.edu	37	3	195595418	195595418	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:195595418G>A	ENST00000333602.6	-	12	2323	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	TNK2_ENST00000392400.1_Missense_Mutation_p.T569M|TNK2_ENST00000381916.2_Missense_Mutation_p.T647M|TNK2_ENST00000428187.1_Missense_Mutation_p.T601M	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	569				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCGATGAGCGTGACCTCAGC	0.751																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1705-1707)aCg>aTg		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						5.0	6.0	6.0					3																	195595418		1992	3956	5948	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595418G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1706C>T	3.37:g.195595418G>A	ENSP00000329425:p.Thr569Met					TNK2_ENST00000392400.1_Missense_Mutation_p.T569M|TNK2_ENST00000428187.1_Missense_Mutation_p.T601M|TNK2_ENST00000381916.2_Missense_Mutation_p.T647M	p.T569M	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2323	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	569	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1706C>T	CCDS33928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.193600|2.193600	0.38707|0.38707	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000424563|ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	.|T;T;T;T;T	.|0.75367	.|-0.9;-0.93;2.83;-0.92;-0.9	5.41|5.41	4.51|4.51	0.55191|0.55191	.|.	.|0.499117	.|0.22219	.|N	.|0.062988	T|T	0.70430|0.70430	0.3223|0.3223	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.63880	.|0.949;0.993;0.986;0.979	.|P;P;P;P	.|0.56916	.|0.542;0.809;0.53;0.66	T|T	0.74343|0.74343	-0.3696|-0.3696	5|10	.|0.72032	.|D	.|0.01	.|.	12.0072|12.0072	0.53265|0.53265	0.0:0.0:0.6859:0.3141|0.0:0.0:0.6859:0.3141	.|.	.|569;647;601;94	.|Q07912;Q07912-3;C9J1X3;B3KXJ4	.|ACK1_HUMAN;.;.;.	C|M	179|569;647;136;601;569	.|ENSP00000329425:T569M;ENSP00000371341:T647M;ENSP00000398614:T136M;ENSP00000392546:T601M;ENSP00000376201:T569M	.|ENSP00000329425:T569M	R|T	-|-	1|2	0|0	TNK2|TNK2	197079815|197079815	1.000000|1.000000	0.71417|0.71417	0.550000|0.550000	0.28217|0.28217	0.176000|0.176000	0.22953|0.22953	5.862000|5.862000	0.69560|0.69560	1.230000|1.230000	0.43646|0.43646	0.586000|0.586000	0.80456|0.80456	CGC|ACG		0.751	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		6	9	0	0	0	1	0	6	9				
CHN1	1123	broad.mit.edu	37	2	175689187	175689187	+	Silent	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:175689187G>C	ENST00000409900.3	-	8	1000	c.687C>G	c.(685-687)ctC>ctG	p.L229L	CHN1_ENST00000409597.1_Silent_p.L45L|CHN1_ENST00000295497.7_Silent_p.L104L|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Silent_p.L203L	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	229					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTGAGCAATGAGACCCCACA	0.453			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(685-687)ctC>ctG		chimerin 1							82.0	74.0	76.0					2																	175689187		1956	4188	6144	SO:0001819	synonymous_variant	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175689187G>C		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.687C>G	2.37:g.175689187G>C						CHN1_ENST00000295497.7_Silent_p.L104L|CHN1_ENST00000409156.3_Silent_p.L203L|CHN1_ENST00000409597.1_Silent_p.L45L|CHN1_ENST00000488080.1_5'UTR	p.L229L	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		8	1000	-			229					A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP	ENST00000409900.3	37	c.687C>G	CCDS46455.1																																																																																				0.453	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		4	23	0	0	0	1	0	4	23				
SIGLEC6	946	broad.mit.edu	37	19	52034457	52034457	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:52034457C>T	ENST00000425629.3	-	2	538	c.384G>A	c.(382-384)atG>atA	p.M128I	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.M92I|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.M128I	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	128					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AACCGTATTTCATCCATTTGG	0.537																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(382-384)atG>atA		sialic acid binding Ig-like lectin 6							100.0	104.0	103.0					19																	52034457		2153	4264	6417	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034457C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.384G>A	19.37:g.52034457C>T	ENSP00000401502:p.Met128Ile					SIGLEC6_ENST00000391797.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.M92I	p.M128I	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	452	-		all_neural(266;0.0199)	128					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.384G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	5.584	0.292561	0.10567	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	2.39	-4.37	0.03633	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18676	0.0448	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B	0.12156	0.004;0.001;0.005;0.004;0.001;0.007;0.001	T	0.20438	-1.0275	9	0.33940	T	0.23	.	0.3042	0.00278	0.2017:0.3037:0.1999:0.2947	.	128;92;128;128;128;128;128	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	I	117;128;128;128;92;128;128	ENSP00000375674:M128I;ENSP00000401502:M128I;ENSP00000353071:M128I;ENSP00000410679:M92I;ENSP00000345907:M128I	ENSP00000345907:M128I	M	-	3	0	SIGLEC6	56726269	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.580000	0.00213	-0.470000	0.06901	-0.734000	0.03567	ATG		0.537	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	123	0	0	0	1	0	32	123				
GRIA1	2890	broad.mit.edu	37	5	153190726	153190726	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:153190726C>A	ENST00000285900.5	+	16	3005	c.2662C>A	c.(2662-2664)Caa>Aaa	p.Q888K	GRIA1_ENST00000518142.1_Missense_Mutation_p.Q808K|GRIA1_ENST00000521843.2_Missense_Mutation_p.Q819K|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q898K|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q898K|GRIA1_ENST00000340592.5_Missense_Mutation_p.Q888K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	888					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAAGTCCATGCAATCGATTCC	0.627																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2662-2664)Caa>Aaa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						60.0	57.0	58.0					5																	153190726		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190726C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2662C>A	5.37:g.153190726C>A	ENSP00000285900:p.Gln888Lys					GRIA1_ENST00000340592.5_Missense_Mutation_p.Q888K|GRIA1_ENST00000518142.1_Missense_Mutation_p.Q808K|GRIA1_ENST00000521843.2_Missense_Mutation_p.Q819K|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q898K|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q898K	p.Q888K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	3005	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	888					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2662C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300719	0.81136	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.68952	2.095	0.80722	D	1	D;D;P;D;P	0.67145	0.993;0.993;0.92;0.996;0.749	D;D;B;D;B	0.72982	0.952;0.952;0.422;0.979;0.248	T	0.77902	-0.2414	10	0.46703	T	0.11	.	17.3487	0.87316	0.0:1.0:0.0:0.0	.	898;898;808;888;888	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	K	888;888;808;888;821;819;898;898	ENSP00000285900:Q888K;ENSP00000427920:Q808K;ENSP00000339343:Q888K;ENSP00000427864:Q821K;ENSP00000442108:Q819K;ENSP00000428994:Q898K;ENSP00000415569:Q898K	ENSP00000285900:Q888K	Q	+	1	0	GRIA1	153170919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.307000	0.78920	2.330000	0.79161	0.561000	0.74099	CAA		0.627	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			15	50	1	0	2.61681e-11	1	2.82088e-11	15	50				
UVRAG	7405	broad.mit.edu	37	11	75715074	75715074	+	Silent	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:75715074C>G	ENST00000356136.3	+	9	1093	c.852C>G	c.(850-852)ctC>ctG	p.L284L	UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Silent_p.L183L|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	284					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTGAGCACCTCAAACTTCAAC	0.418																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(850-852)ctC>ctG		UV radiation resistance associated							113.0	106.0	108.0					11																	75715074		2200	4293	6493	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75715074C>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.852C>G	11.37:g.75715074C>G						UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Silent_p.L183L	p.L284L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			9	1093	+			284					B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.852C>G	CCDS8241.1																																																																																				0.418	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		42	148	0	0	0	1	0	42	148				
ITPR2	3709	broad.mit.edu	37	12	26943114	26943114	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:26943114C>T	ENST00000381340.3	-	2	555	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	ITPR2_ENST00000242737.5_Missense_Mutation_p.A47T	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	47					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGAGGGTTGGCAAGGTCCCCG	0.388																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(139-141)Gcc>Acc		inositol 1,4,5-trisphosphate receptor, type 2							91.0	89.0	90.0					12																	26943114		1890	4132	6022	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26943114C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.139G>A	12.37:g.26943114C>T	ENSP00000370744:p.Ala47Thr					ITPR2_ENST00000242737.5_Missense_Mutation_p.A47T	p.A47T	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			2	555	-	Colorectal(261;0.0847)		47					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.139G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	9.291	1.050637	0.19827	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.98249	-4.82;-4.82	4.95	1.85	0.25348	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.218019	0.47852	N	0.000206	D	0.90007	0.6880	N	0.02674	-0.535	0.32441	N	0.546722	B;B	0.12013	0.0;0.005	B;B	0.20955	0.003;0.032	D	0.85094	0.0953	10	0.15952	T	0.53	.	4.0673	0.09866	0.2465:0.5625:0.0:0.1909	.	47;47	Q14571-2;Q14571	.;ITPR2_HUMAN	T	47	ENSP00000370744:A47T;ENSP00000242737:A47T	ENSP00000242737:A47T	A	-	1	0	ITPR2	26834381	0.019000	0.18553	0.994000	0.49952	0.997000	0.91878	0.157000	0.16402	0.731000	0.32448	0.563000	0.77884	GCC		0.388	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	100	0	0	0	1	0	4	100				
GPR149	344758	broad.mit.edu	37	3	154146790	154146790	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:154146790G>A	ENST00000389740.2	-	1	714	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	205					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGAGGCCCACGAGGAGTCCGA	0.602																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(613-615)ctC>ctT		G protein-coupled receptor 149							53.0	60.0	58.0					3																	154146790		1994	4166	6160	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146790G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.615C>T	3.37:g.154146790G>A							p.L205L	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	714	-			205						Silent	SNP	ENST00000389740.2	37	c.615C>T	CCDS43162.1																																																																																				0.602	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		28	93	0	0	0	1	0	28	93				
DNAH9	1770	broad.mit.edu	37	17	11711205	11711205	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:11711205C>A	ENST00000262442.4	+	44	8645	c.8577C>A	c.(8575-8577)gaC>gaA	p.D2859E	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2859E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2859	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATCCAGGACTTCAAGGTAA	0.557																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8575-8577)gaC>gaA		dynein, axonemal, heavy chain 9							54.0	48.0	51.0					17																	11711205		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11711205C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8577C>A	17.37:g.11711205C>A	ENSP00000262442:p.Asp2859Glu					DNAH9_ENST00000454412.2_Missense_Mutation_p.D2859E	p.D2859E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	44	8645	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2859			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8577C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974838	0.53720	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	5.07	2.67	0.31697	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	N	0.13352	0.335	0.80722	D	1	P	0.50369	0.934	P	0.52454	0.699	T	0.21793	-1.0235	10	0.30854	T	0.27	.	10.3793	0.44101	0.0:0.7632:0.0:0.2368	.	2859	Q9NYC9	DYH9_HUMAN	E	2859;2859;1441	ENSP00000262442:D2859E;ENSP00000414874:D2859E	ENSP00000262442:D2859E	D	+	3	2	DNAH9	11651930	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	1.419000	0.34793	1.131000	0.42111	0.558000	0.71614	GAC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	32	1	0	0.014758	1	0.0150135	5	32				
CCDC132	55610	broad.mit.edu	37	7	92926149	92926149	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:92926149G>A	ENST00000305866.5	+	15	1390		c.e15+1		CCDC132_ENST00000535481.1_Splice_Site|CCDC132_ENST00000544910.1_Splice_Site|CCDC132_ENST00000541136.1_Splice_Site|CCDC132_ENST00000317751.6_Splice_Site	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TAATCAGCAGGTAGTATTTAA	0.299																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.e16+1		coiled-coil domain containing 132							69.0	66.0	67.0					7																	92926149		1812	4074	5886	SO:0001630	splice_region_variant	55610							g.chr7:92926149G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1262+1G>A	7.37:g.92926149G>A						CCDC132_ENST00000535481.1_Splice_Site|CCDC132_ENST00000305866.5_Splice_Site|CCDC132_ENST00000541136.1_Splice_Site|CCDC132_ENST00000317751.6_Splice_Site		NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		16	1392	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)							B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Splice_Site	SNP	ENST00000305866.5	37		CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010673	0.75046	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751;ENST00000458707	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2952	0.90143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC132	92764085	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.711000	0.98735	2.409000	0.81822	0.557000	0.71058	.		0.299	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	Intron	12	47	0	0	0	1	0	12	47				
INPP5A	3632	broad.mit.edu	37	10	134563078	134563078	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:134563078G>T	ENST00000368594.3	+	10	1067	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	INPP5A_ENST00000368593.3_Missense_Mutation_p.V264L	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	264					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CAATGAAGTGGTGAAGCTCAT	0.622																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(790-792)Gtg>Ttg		inositol polyphosphate-5-phosphatase, 40kDa							78.0	68.0	71.0					10																	134563078		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563078G>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.790G>T	10.37:g.134563078G>T	ENSP00000357583:p.Val264Leu					INPP5A_ENST00000368593.3_Missense_Mutation_p.V264L	p.V264L	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	10	1067	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	264					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.790G>T	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802398	0.31869	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.44482	0.92;0.94	5.1	5.1	0.69264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.117705	0.56097	D	0.000034	T	0.35128	0.0921	L	0.29908	0.895	0.44899	D	0.997911	P;P	0.42123	0.771;0.771	B;B	0.42495	0.389;0.389	T	0.06006	-1.0851	10	0.09843	T	0.71	-3.3339	18.9259	0.92544	0.0:0.0:1.0:0.0	.	264;264	Q14642;Q5T1B5	I5P1_HUMAN;.	L	264;264;181	ENSP00000357583:V264L;ENSP00000357582:V264L	ENSP00000357582:V264L	V	+	1	0	INPP5A	134413068	1.000000	0.71417	0.196000	0.23383	0.056000	0.15407	6.810000	0.75216	2.547000	0.85894	0.655000	0.94253	GTG		0.622	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		20	59	1	0	1.64293e-13	1	1.78745e-13	20	59				
PCDHGC3	5098	broad.mit.edu	37	5	140857005	140857005	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:140857005C>G	ENST00000308177.3	+	1	1426	c.1322C>G	c.(1321-1323)aCa>aGa	p.T441R	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCCTTACAATAGTGCGT	0.517																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1321-1323)aCa>aGa									119.0	120.0	120.0					5																	140857005		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140857005C>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1322C>G	5.37:g.140857005C>G	ENSP00000312070:p.Thr441Arg					PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T441R	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1426	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1322C>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	4.443	0.081995	0.08533	.	.	ENSG00000240184	ENST00000308177	T	0.56941	0.43	5.18	5.18	0.71444	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.35248	0.0925	N	0.12853	0.265	0.25398	N	0.988466	B;B	0.27910	0.193;0.161	B;B	0.27608	0.081;0.079	T	0.13710	-1.0499	9	0.33141	T	0.24	.	11.9894	0.53166	0.2846:0.7154:0.0:0.0	.	441;441	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	R	441	ENSP00000312070:T441R	ENSP00000312070:T441R	T	+	2	0	PCDHGC3	140837189	0.982000	0.34865	0.158000	0.22627	0.122000	0.20287	2.858000	0.48356	2.861000	0.98227	0.650000	0.86243	ACA		0.517	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		13	85	0	0	0	1	0	13	85				
SLC2A2	6514	broad.mit.edu	37	3	170724960	170724960	+	Missense_Mutation	SNP	C	C	T	rs121909741		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:170724960C>T	ENST00000314251.3	-	5	668	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.V78I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	197			V -> I (in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes). {ECO:0000269|PubMed:8063045}.		carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.V197I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATGCCCGTGACGATGGCCAGC	0.483																																						ENST00000314251.3																			1	Substitution - Missense(1)	p.V197I(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	GRCh37	CM941278	SLC2A2	M	rs121909741	c.(589-591)Gtc>Atc		solute carrier family 2 (facilitated glucose transporter), member 2		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106.0	95.0	99.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	589	5.7	1.0	3	dbSNP_133	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A2	NM_000340.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	197/525	170724960	2,13004	2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170724960C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.589G>A	3.37:g.170724960C>T	ENSP00000323568:p.Val197Ile					SLC2A2_ENST00000382808.4_Missense_Mutation_p.V78I	p.V197I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		5	668	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		197		V -> I (in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes).			A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.589G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506749	0.85282	2.27E-4	1.16E-4	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.74526	-0.85;-0.85;-0.85	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	M	0.83312	2.635	0.80722	A	1	D	0.64830	0.994	P	0.58820	0.846	D	0.85624	0.1266	9	0.46703	T	0.11	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	197	P11168	GTR2_HUMAN	I	197;78;24	ENSP00000323568:V197I;ENSP00000372258:V78I;ENSP00000418888:V24I	ENSP00000323568:V197I	V	-	1	0	SLC2A2	172207654	1.000000	0.71417	0.993000	0.49108	0.378000	0.30076	5.697000	0.68295	2.854000	0.98071	0.655000	0.94253	GTC		0.483	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		18	34	0	0	0	1	0	18	34				
CHRM1	1128	broad.mit.edu	37	11	62677313	62677313	+	Silent	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:62677313G>C	ENST00000306960.3	-	2	1801	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	420					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CTTTGTTGCAGAGTGCGTAGC	0.612																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1258-1260)ctC>ctG		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						177.0	163.0	168.0					11																	62677313		2201	4298	6499	SO:0001819	synonymous_variant	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677313G>C	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1260C>G	11.37:g.62677313G>C						AP000438.2_ENST00000543624.1_RNA	p.L420L	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	1801	-			420					Q96RH1	Silent	SNP	ENST00000306960.3	37	c.1260C>G	CCDS8040.1																																																																																				0.612	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		47	151	0	0	0	1	0	47	151				
TTN	7273	broad.mit.edu	37	2	179623873	179623873	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:179623873C>G	ENST00000591111.1	-	44	10365	c.10141G>C	c.(10141-10143)Gac>Cac	p.D3381H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3335H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D3381H|TTN_ENST00000342992.6_Missense_Mutation_p.D3381H|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3381H|TTN_ENST00000342175.6_Missense_Mutation_p.D3335H|TTN_ENST00000460472.2_Missense_Mutation_p.D3335H			Q8WZ42	TITIN_HUMAN	titin	13697	Ig-like 20.				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)			ATTTTCTTGTCTTTGCTGTAC	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10141-10143)Gac>Cac		titin							125.0	110.0	115.0					2																	179623873		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623873C>G	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.10141G>C	2.37:g.179623873C>G	ENSP00000465570:p.Asp3381His					TTN_ENST00000342992.6_Missense_Mutation_p.D3381H|TTN_ENST00000342175.6_Missense_Mutation_p.D3335H|TTN_ENST00000359218.5_Missense_Mutation_p.D3335H|TTN_ENST00000591111.1_Missense_Mutation_p.D3381H|TTN_ENST00000360870.5_Missense_Mutation_p.D3381H|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3335H|TTN-AS1_ENST00000585451.1_RNA	p.D3381H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10365	-			3094			Ig-like 20.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.10141G>C		.	.	.	.	.	.	.	.	.	.	C	15.44	2.835275	0.50951	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.92	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80969	0.4726	M	0.68952	2.095	0.37975	D	0.933425	P;P;P;D;D	0.76494	0.901;0.901;0.901;0.972;0.999	P;P;P;P;D	0.64237	0.739;0.739;0.739;0.78;0.923	D	0.84219	0.0460	9	0.87932	D	0	.	14.5222	0.67859	0.0:0.9303:0.0:0.0697	.	3335;3335;3335;3381;3381	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	3381;3335;3335;3335;3335;3381	ENSP00000343764:D3381H;ENSP00000434586:D3335H;ENSP00000340554:D3335H;ENSP00000352154:D3335H;ENSP00000354117:D3381H	ENSP00000340554:D3335H	D	-	1	0	TTN	179332118	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.968000	0.63728	2.804000	0.96469	0.655000	0.94253	GAC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	100	0	0	0	1	0	21	100				
MFN2	9927	broad.mit.edu	37	1	12067225	12067225	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:12067225G>T	ENST00000235329.5	+	17	2310	c.1988G>T	c.(1987-1989)cGc>cTc	p.R663L	MFN2_ENST00000444836.1_Missense_Mutation_p.R663L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	663					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCCTTCAAGCGCCAGTTTGTG	0.602																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(1987-1989)cGc>cTc		mitofusin 2							76.0	68.0	71.0					1																	12067225		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12067225G>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1988G>T	1.37:g.12067225G>T	ENSP00000235329:p.Arg663Leu					MFN2_ENST00000444836.1_Missense_Mutation_p.R663L	p.R663L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	17	2310	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	663					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.1988G>T	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749330	0.89753	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.96745	-4.11;-4.11	4.57	4.57	0.56435	Fzo/mitofusin HR2 domain (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.74881	2.28	0.80722	D	1	D	0.57257	0.979	P	0.62382	0.901	D	0.98254	1.0495	10	0.72032	D	0.01	-20.952	16.5619	0.84568	0.0:0.0:1.0:0.0	.	663	O95140	MFN2_HUMAN	L	663;663;361	ENSP00000416338:R663L;ENSP00000235329:R663L	ENSP00000235329:R663L	R	+	2	0	MFN2	11989812	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.455000	0.80726	2.370000	0.80446	0.561000	0.74099	CGC		0.602	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		15	41	1	0	6.72482e-11	1	7.21613e-11	15	41				
ZDHHC21	340481	broad.mit.edu	37	9	14674322	14674322	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:14674322T>C	ENST00000380916.4	-	4	483	c.17A>G	c.(16-18)cAc>cGc	p.H6R		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	6					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		AACAACAAAGTGAATCCGGAG	0.383																																						ENST00000380916.3																			0				endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9						c.(16-18)cAc>cGc		zinc finger, DHHC-type containing 21							100.0	105.0	103.0					9																	14674322		2203	4300	6503	SO:0001583	missense	340481				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding	g.chr9:14674322T>C	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.17A>G	9.37:g.14674322T>C	ENSP00000370303:p.His6Arg						p.H6R	NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN		GBM - Glioblastoma multiforme(50;4.31e-06)	4	483	-			6					A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	ENST00000380916.4	37	c.17A>G	CCDS6475.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459795	0.63401	.	.	ENSG00000175893	ENST00000380916	T	0.41758	0.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.27053	0.805	0.53688	D	0.999972	P	0.50156	0.932	P	0.58520	0.84	T	0.33675	-0.9859	10	0.28530	T	0.3	-5.911	16.3432	0.83101	0.0:0.0:0.0:1.0	.	6	Q8IVQ6	ZDH21_HUMAN	R	6	ENSP00000370303:H6R	ENSP00000370303:H6R	H	-	2	0	ZDHHC21	14664322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.814000	0.75236	2.263000	0.75096	0.377000	0.23210	CAC		0.383	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566		6	142	0	0	0	1	0	6	142				
EP400	57634	broad.mit.edu	37	12	132504724	132504724	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:132504724C>T	ENST00000333577.4	+	23	4625	c.4516C>T	c.(4516-4518)Ccg>Tcg	p.P1506S	EP400_ENST00000330386.6_Missense_Mutation_p.P1470S|EP400_ENST00000332482.4_Missense_Mutation_p.P1433S|EP400_ENST00000389561.2_Missense_Mutation_p.P1470S|EP400_ENST00000389562.2_Missense_Mutation_p.P1469S			Q96L91	EP400_HUMAN	E1A binding protein p400	1506					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGAGGACGGCCGCCCATCGC	0.642																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4516-4518)Ccg>Tcg		E1A binding protein p400							43.0	46.0	45.0					12																	132504724		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132504724C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4516C>T	12.37:g.132504724C>T	ENSP00000333602:p.Pro1506Ser					EP400_ENST00000389562.2_Missense_Mutation_p.P1469S|EP400_ENST00000332482.4_Missense_Mutation_p.P1433S|EP400_ENST00000330386.6_Missense_Mutation_p.P1470S|EP400_ENST00000389561.2_Missense_Mutation_p.P1470S	p.P1506S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	23	4625	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1506					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4516C>T		.	.	.	.	.	.	.	.	.	.	C	13.44	2.238652	0.39598	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.56	4.56	0.56223	.	0.171847	0.52532	D	0.000066	T	0.67011	0.2848	N	0.03608	-0.345	0.34845	D	0.74111	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.12156	0.007;0.005;0.007	T	0.65207	-0.6224	10	0.02654	T	1	.	3.6251	0.08111	0.0:0.6499:0.0:0.3501	.	1470;1470;1469	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	1506;1470;1469;1433;1470;1470;1470	ENSP00000333602:P1506S;ENSP00000374212:P1470S;ENSP00000374213:P1469S;ENSP00000331737:P1433S;ENSP00000330620:P1470S	ENSP00000330620:P1470S	P	+	1	0	EP400	131070677	0.998000	0.40836	0.990000	0.47175	0.824000	0.46624	2.096000	0.41738	2.604000	0.88044	0.650000	0.86243	CCG		0.642	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	96	0	0	0	1	0	4	96				
NPM3	10360	broad.mit.edu	37	10	103542039	103542039	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:103542039G>A	ENST00000370110.5	-	4	416	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	132					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCAGTGATCCGCACAGGGCCA	0.617																																						ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(394-396)Cgg>Tgg		nucleophosmin/nucleoplasmin 3							58.0	58.0	58.0					10																	103542039		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542039G>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.394C>T	10.37:g.103542039G>A	ENSP00000359128:p.Arg132Trp					NPM3_ENST00000474993.1_5'UTR	p.R132W	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	4	416	-		Colorectal(252;0.122)	132					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.394C>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417592	0.62622	.	.	ENSG00000107833	ENST00000370110	T	0.42513	0.97	5.67	1.65	0.23941	Nucleoplasmin core (2);	0.864844	0.10346	N	0.685746	T	0.35422	0.0931	N	0.22421	0.69	0.09310	N	1	D	0.56746	0.977	P	0.51229	0.663	T	0.16958	-1.0385	10	0.66056	D	0.02	-2.1818	5.2787	0.15663	0.1471:0.0:0.5658:0.2871	.	132	O75607	NPM3_HUMAN	W	132	ENSP00000359128:R132W	ENSP00000359128:R132W	R	-	1	2	NPM3	103532029	0.114000	0.22134	0.438000	0.26821	0.865000	0.49528	0.223000	0.17719	0.042000	0.15717	-0.169000	0.13324	CGG		0.617	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		3	35	0	0	0	1	0	3	35				
C5orf42	65250	broad.mit.edu	37	5	37187536	37187536	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:37187536C>G	ENST00000508244.1	-	22	4153	c.4060G>C	c.(4060-4062)Gaa>Caa	p.E1354Q	C5orf42_ENST00000274258.7_Missense_Mutation_p.E235Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1354Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1354						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGTGGCAGTTCTCCAATAAGG	0.338																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(703-705)Gaa>Caa		chromosome 5 open reading frame 42							78.0	82.0	80.0					5																	37187536		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37187536C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4060G>C	5.37:g.37187536C>G	ENSP00000421690:p.Glu1354Gln					C5orf42_ENST00000508244.1_Missense_Mutation_p.E1354Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1354Q	p.E235Q			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		23	4290	-	all_lung(31;0.000616)		1354					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.703G>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	34	5.363052	0.95877	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.53	5.53	0.82687	.	0.000000	0.46758	D	0.000265	T	0.78635	0.4314	L	0.29908	0.895	0.46631	D	0.999132	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.80482	-0.1363	10	0.87932	D	0	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	1354;235	E9PH94;Q9H799	.;CE042_HUMAN	Q	1354;1354;235;402;235	ENSP00000421690:E1354Q;ENSP00000389014:E1354Q;ENSP00000274258:E235Q;ENSP00000424223:E402Q	ENSP00000274258:E235Q	E	-	1	0	C5orf42	37223293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.756000	0.74919	2.755000	0.94549	0.491000	0.48974	GAA		0.338	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		6	69	0	0	0	1	0	6	69				
PLS1	5357	broad.mit.edu	37	3	142430410	142430410	+	Missense_Mutation	SNP	G	G	A	rs146341428		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:142430410G>A	ENST00000337777.3	+	15	1910	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H	PLS1_ENST00000497002.1_Missense_Mutation_p.R566H|PLS1_ENST00000457734.2_Missense_Mutation_p.R566H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	566	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AATGCAGTTCGTCAAGAAATG	0.333																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(1696-1698)cGt>cAt		plastin 1		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	85.0	86.0	86.0		1697,1697,1697	4.8	1.0	3	dbSNP_134	86	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	PLS1	NM_001145319.1,NM_001172312.1,NM_002670.2	29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	566/630,566/630,566/630	142430410	1,13001	2203	4298	6501	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142430410G>A	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1697G>A	3.37:g.142430410G>A	ENSP00000336831:p.Arg566His					PLS1_ENST00000457734.2_Missense_Mutation_p.R566H|PLS1_ENST00000497002.1_Missense_Mutation_p.R566H	p.R566H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			15	1910	+			566			Actin-binding 2.|CH 4.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.1697G>A	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066329	0.76187	0.0	1.16E-4	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95377	-3.69;-3.69;-3.69	5.62	4.75	0.60458	Calponin homology domain (5);	0.152248	0.64402	D	0.000019	D	0.91646	0.7360	L	0.38175	1.15	0.43453	D	0.995645	B	0.13145	0.007	B	0.08055	0.003	D	0.88614	0.3158	10	0.72032	D	0.01	-11.6771	10.8312	0.46661	0.1435:0.0:0.8565:0.0	.	566	Q14651	PLSI_HUMAN	H	566	ENSP00000387890:R566H;ENSP00000336831:R566H;ENSP00000418700:R566H	ENSP00000336831:R566H	R	+	2	0	PLS1	143913100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.320000	0.65841	1.531000	0.49152	0.650000	0.86243	CGT		0.333	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		18	79	0	0	0	1	0	18	79				
OGDHL	55753	broad.mit.edu	37	10	50959895	50959895	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:50959895C>A	ENST00000374103.4	-	6	812	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	OGDHL_ENST00000432695.1_Missense_Mutation_p.A34S|OGDHL_ENST00000419399.1_Missense_Mutation_p.A186S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	243					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTAGCCGGGCCAGCAGGGTC	0.607																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(727-729)Gcc>Tcc		oxoglutarate dehydrogenase-like							92.0	94.0	94.0					10																	50959895		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50959895C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.727G>T	10.37:g.50959895C>A	ENSP00000363216:p.Ala243Ser					OGDHL_ENST00000432695.1_Missense_Mutation_p.A34S|OGDHL_ENST00000419399.1_Missense_Mutation_p.A186S	p.A243S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			6	812	-			243					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.727G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666233	0.67814	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.13420	2.59;2.59;3.46	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.28636	0.09;0.182;0.218	B;B;B	0.35114	0.124;0.124;0.196	T	0.04017	-1.0984	10	0.30854	T	0.27	.	19.5544	0.95335	0.0:1.0:0.0:0.0	.	186;34;243	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	S	243;186;34	ENSP00000363216:A243S;ENSP00000401356:A186S;ENSP00000390240:A34S	ENSP00000363216:A243S	A	-	1	0	OGDHL	50629901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.768000	0.68858	2.627000	0.88993	0.655000	0.94253	GCC		0.607	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		21	96	1	0	2.27731e-05	1	2.34722e-05	21	96				
CCDC172	374355	broad.mit.edu	37	10	118101575	118101575	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:118101575G>A	ENST00000333254.3	+	5	561	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	104																	AATGATAGAGGAGGAAGACAA	0.234																																						ENST00000333254.3																			0											c.(310-312)Gag>Aag		coiled-coil domain containing 172							30.0	35.0	34.0					10																	118101575		2149	4245	6394	SO:0001583	missense	374355							g.chr10:118101575G>A	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.310G>A	10.37:g.118101575G>A	ENSP00000329860:p.Glu104Lys					CCDC172_ENST00000497093.1_3'UTR	p.E104K	NM_198515.2	NP_940917.1					5	561	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.310G>A	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732929	0.48939	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.17	4.25	0.50352	.	0.054165	0.64402	D	0.000001	T	0.63546	0.2520	M	0.74258	2.255	0.42578	D	0.993208	P	0.45957	0.869	P	0.45276	0.475	T	0.71196	-0.4664	9	0.72032	D	0.01	-14.4776	15.3233	0.74139	0.0:0.2638:0.7362:0.0	.	104	P0C7W6	CJ096_HUMAN	K	104	.	ENSP00000329860:E104K	E	+	1	0	C10orf96	118091565	1.000000	0.71417	0.902000	0.35471	0.197000	0.23852	3.180000	0.50895	1.296000	0.44742	0.655000	0.94253	GAG		0.234	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		15	70	0	0	0	1	0	15	70				
FCRL4	83417	broad.mit.edu	37	1	157551407	157551407	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:157551407A>T	ENST00000271532.1	-	7	1298	c.1163T>A	c.(1162-1164)gTc>gAc	p.V388D	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	388					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCCCGCGGCGACAAGGCCATC	0.572																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1162-1164)gTc>gAc		Fc receptor-like 4							44.0	43.0	43.0					1																	157551407		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551407A>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1163T>A	1.37:g.157551407A>T	ENSP00000271532:p.Val388Asp					FCRL4_ENST00000448509.2_5'UTR	p.V388D	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			7	1298	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	388					Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1163T>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181579	0.38511	.	.	ENSG00000163518	ENST00000271532	T	0.21543	2.0	4.63	4.63	0.57726	.	0.597438	0.13749	N	0.365390	T	0.10766	0.0263	L	0.57536	1.79	0.09310	N	0.999999	P	0.34724	0.465	B	0.33042	0.157	T	0.10660	-1.0620	10	0.66056	D	0.02	.	10.3472	0.43913	1.0:0.0:0.0:0.0	.	388	Q96PJ5	FCRL4_HUMAN	D	388	ENSP00000271532:V388D	ENSP00000271532:V388D	V	-	2	0	FCRL4	155818031	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.581000	0.23819	1.924000	0.55735	0.383000	0.25322	GTC		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		4	24	0	0	0	1	0	4	24				
CEP350	9857	broad.mit.edu	37	1	180053305	180053305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:180053305C>T	ENST00000367607.3	+	31	6695	c.6277C>T	c.(6277-6279)Cag>Tag	p.Q2093*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2093					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTGATCAAGCAGTTAGAGGT	0.373																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6277-6279)Cag>Tag		centrosomal protein 350kDa							58.0	56.0	56.0					1																	180053305		2201	4300	6501	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:180053305C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6277C>T	1.37:g.180053305C>T	ENSP00000356579:p.Gln2093*						p.Q2093*	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			31	6695	+			2093					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.6277C>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.823558|4.823558	0.90873|0.90873	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000437245	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.42964	.|D	.|0.000631	T|.	0.74816|.	0.3766|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73757|.	-0.3882|.	3|.	.|.	.|.	.|.	.|.	18.9064|18.9064	0.92464|0.92464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	267|2093;100	.|.	.|.	A|Q	+|+	2|1	0|0	CEP350|CEP350	178319928|178319928	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.967000|0.967000	0.64934|0.64934	5.661000|5.661000	0.68025|0.68025	2.448000|2.448000	0.82819|0.82819	0.555000|0.555000	0.69702|0.69702	GCA|CAG		0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	10	0	0	0	1	0	3	10				
VSIG4	11326	broad.mit.edu	37	X	65252479	65252479	+	Silent	SNP	A	A	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:65252479A>G	ENST00000374737.4	-	3	633	c.525T>C	c.(523-525)taT>taC	p.Y175Y	VSIG4_ENST00000455586.2_Silent_p.Y175Y|VSIG4_ENST00000412866.2_Intron	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	175	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATACCAAATATAACTGATGG	0.512																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(523-525)taT>taC		V-set and immunoglobulin domain containing 4							138.0	121.0	127.0					X																	65252479		2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252479A>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.525T>C	X.37:g.65252479A>G						VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Silent_p.Y175Y	p.Y175Y	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			3	651	-			175			Ig-like 2.		Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.525T>C	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	A	4.419	0.077402	0.08485	.	.	ENSG00000155659	ENST00000427538	T	0.03524	3.9	3.91	2.77	0.32553	.	0.334574	0.21943	N	0.066859	T	0.06690	0.0171	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19192	-1.0313	7	0.87932	D	0	-3.1999	3.0423	0.06142	0.6985:0.0:0.3015:0.0	.	.	.	.	H	102	ENSP00000393108:Y102H	ENSP00000393108:Y102H	Y	-	1	0	VSIG4	65169204	0.845000	0.29573	1.000000	0.80357	0.582000	0.36321	0.805000	0.27112	1.256000	0.44068	0.412000	0.27726	TAT		0.512	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		6	66	0	0	0	1	0	6	66				
PPTC7	160760	broad.mit.edu	37	12	110977654	110977654	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:110977654C>T	ENST00000354300.3	-	4	987	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	233	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CCTGAAGAATCATATAATCAG	0.433																																						ENST00000354300.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(697-699)atG>atA		PTC7 protein phosphatase homolog (S. cerevisiae)							114.0	109.0	111.0					12																	110977654		2203	4300	6503	SO:0001583	missense	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:110977654C>T	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.699G>A	12.37:g.110977654C>T	ENSP00000346255:p.Met233Ile						p.M233I	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN			4	987	-			233			PP2C-like.		B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	ENST00000354300.3	37	c.699G>A	CCDS9149.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992339	0.74703	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.77	5.77	0.91146	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	N	0.11845	0.185	0.80722	D	1	B	0.19073	0.033	B	0.25987	0.065	T	0.43669	-0.9377	9	0.46703	T	0.11	-22.0505	20.3559	0.98840	0.0:1.0:0.0:0.0	.	233	Q8NI37	PPTC7_HUMAN	I	233	.	ENSP00000346255:M233I	M	-	3	0	PPTC7	109462037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.890000	0.99128	0.585000	0.79938	ATG		0.433	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		9	67	0	0	0	1	0	9	67				
HHLA3	11147	broad.mit.edu	37	1	70820689	70820689	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:70820689G>A	ENST00000359875.5	+	1	195	c.55G>A	c.(55-57)Gca>Aca	p.A19T	HHLA3_ENST00000486110.1_3'UTR|ANKRD13C_ENST00000262346.6_5'Flank|HHLA3_ENST00000370940.5_Missense_Mutation_p.A19T|HHLA3_ENST00000432224.1_Missense_Mutation_p.A19T|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000361764.4_Missense_Mutation_p.A19T|HHLA3_ENST00000531950.1_Missense_Mutation_p.A19T	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	19										large_intestine(3)|lung(1)	4						TGAGCCTCCCGCAGAGGAATG	0.522																																						ENST00000359875.5																			0				large_intestine(3)|lung(1)	4						c.(55-57)Gca>Aca		HERV-H LTR-associating 3							94.0	78.0	84.0					1																	70820689		2203	4300	6503	SO:0001583	missense	11147						protein binding	g.chr1:70820689G>A	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.55G>A	1.37:g.70820689G>A	ENSP00000352938:p.Ala19Thr					HHLA3_ENST00000370940.5_Missense_Mutation_p.A19T|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.A19T|HHLA3_ENST00000361764.4_Missense_Mutation_p.A19T|HHLA3_ENST00000531950.1_Missense_Mutation_p.A19T	p.A19T	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN			1	195	+			19					D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Missense_Mutation	SNP	ENST00000359875.5	37	c.55G>A	CCDS30753.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991552	0.35131	.	.	ENSG00000197568	ENST00000361764;ENST00000359875;ENST00000370940;ENST00000531950;ENST00000432224	.	.	.	2.76	-0.553	0.11815	.	.	.	.	.	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.55545	0.665;0.647;0.778	T	0.10154	-1.0642	8	0.87932	D	0	.	8.3542	0.32321	0.0:0.0:0.3591:0.6408	.	19;19;19	Q9XRX5-2;Q9XRX5-3;Q9XRX5	.;.;HHLA3_HUMAN	T	19	.	ENSP00000352938:A19T	A	+	1	0	HHLA3	70593277	0.000000	0.05858	0.007000	0.13788	0.050000	0.14768	0.091000	0.15046	-0.097000	0.12307	0.650000	0.86243	GCA		0.522	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		11	25	0	0	0	1	0	11	25				
COL6A2	1292	broad.mit.edu	37	21	47535818	47535818	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr21:47535818G>A	ENST00000300527.4	+	6	938	c.834G>A	c.(832-834)gaG>gaA	p.E278E	COL6A2_ENST00000357838.4_Silent_p.E278E|COL6A2_ENST00000409416.1_Silent_p.E278E|COL6A2_ENST00000397763.1_Silent_p.E278E|COL6A2_ENST00000310645.5_Silent_p.E278E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	278	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCGGGAGAGCCTGGCCAGA	0.657																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(832-834)gaG>gaA		collagen, type VI, alpha 2							64.0	58.0	60.0					21																	47535818		2200	4299	6499	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47535818G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.834G>A	21.37:g.47535818G>A						COL6A2_ENST00000310645.5_Silent_p.E278E|COL6A2_ENST00000397763.1_Silent_p.E278E|COL6A2_ENST00000357838.4_Silent_p.E278E|COL6A2_ENST00000409416.1_Silent_p.E278E	p.E278E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	6	938	+	Breast(49;0.245)		278			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.834G>A	CCDS13728.1																																																																																				0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	33	0	0	0	1	0	9	33				
BCAR3	8412	broad.mit.edu	37	1	94033378	94033378	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:94033378G>A	ENST00000370244.1	-	12	2293	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	BCAR3_ENST00000370243.1_Silent_p.L669L|BCAR3_ENST00000260502.6_Silent_p.L669L|BCAR3_ENST00000370247.3_Silent_p.L578L|BCAR3_ENST00000539242.1_Silent_p.L345L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	669	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGGTGCCGCAGAGCAGTCCAC	0.488																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2005-2007)Ctg>Ttg		breast cancer anti-estrogen resistance 3							117.0	115.0	116.0					1																	94033378		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94033378G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2005C>T	1.37:g.94033378G>A						BCAR3_ENST00000370243.1_Silent_p.L669L|BCAR3_ENST00000370247.3_Silent_p.L578L|BCAR3_ENST00000539242.1_Silent_p.L345L|BCAR3_ENST00000260502.6_Silent_p.L669L	p.L669L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	12	2293	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	669			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.2005C>T	CCDS745.1																																																																																				0.488	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			8	71	0	0	0	1	0	8	71				
AGBL5	60509	broad.mit.edu	37	2	27278919	27278919	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:27278919C>T	ENST00000360131.4	+	7	1437	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AGBL5_ENST00000323064.8_Silent_p.G426G|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	426					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGAGTGGCGTTGCTTACT	0.522																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1276-1278)ggC>ggT		ATP/GTP binding protein-like 5							186.0	185.0	185.0					2																	27278919		2203	4300	6503	SO:0001819	synonymous_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278919C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1278C>T	2.37:g.27278919C>T						AGBL5_ENST00000323064.8_Silent_p.G426G	p.G426G	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			7	1437	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		426					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	ENST00000360131.4	37	c.1278C>T	CCDS1732.3																																																																																				0.522	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		54	204	0	0	0	1	0	54	204				
CEP350	9857	broad.mit.edu	37	1	180044257	180044257	+	Missense_Mutation	SNP	C	C	A	rs148196085	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:180044257C>A	ENST00000367607.3	+	28	6086	c.5668C>A	c.(5668-5670)Cgt>Agt	p.R1890S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1890					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCAGAAATTCGTCAAATGGA	0.438																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5668-5670)Cgt>Agt		centrosomal protein 350kDa							76.0	68.0	71.0					1																	180044257		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180044257C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5668C>A	1.37:g.180044257C>A	ENSP00000356579:p.Arg1890Ser						p.R1890S	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			28	6086	+			1890					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5668C>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.641403|4.641403	0.87859|0.87859	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.55413|.	0.52|.	5.81|5.81	4.9|4.9	0.64082|0.64082	.|.	0.000000|.	0.47093|.	D|.	0.000249|.	T|.	0.60444|.	0.2269|.	L|L	0.55481|0.55481	1.735|1.735	0.43179|0.43179	D|D	0.99499|0.99499	P;P|.	0.50710|.	0.845;0.938|.	B;B|.	0.40901|.	0.195;0.343|.	T|.	0.59408|.	-0.7460|.	9|.	.|.	.|.	.|.	.|.	9.8539|9.8539	0.41073|0.41073	0.1383:0.7921:0.0:0.0696|0.1383:0.7921:0.0:0.0696	.|.	1890;1890|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	S|X	1890|64	ENSP00000356579:R1890S|.	.|.	R|S	+|+	1|2	0|0	CEP350|CEP350	178310880|178310880	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.974000|2.974000	0.49272|0.49272	1.463000|1.463000	0.47967|0.47967	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.438	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		7	23	1	0	0.0381472	1	0.0383103	7	23				
RHOA	387	broad.mit.edu	37	3	49394958	49394958	+	IGR	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:49394958C>T	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.D159N|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419349.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGGCAACATCGTTGCGACAC	0.627																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(475-477)Gat>Aat		glutathione peroxidase 1	Glutathione(DB00143)						47.0	52.0	50.0					3																	49394958		2035	4176	6211	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49394958C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49394958C>T						GPX1_ENST00000419349.1_3'UTR	p.D159N	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	796	-			159					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.475G>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189377	0.94923	.	.	ENSG00000233276	ENST00000419783	T	0.04119	3.7	5.18	5.18	0.71444	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	P	0.53549	0.729	T	0.00231	-1.1896	10	0.87932	D	0	.	17.2747	0.87112	0.0:1.0:0.0:0.0	.	159	P07203	GPX1_HUMAN	N	159	ENSP00000407375:D159N	ENSP00000407375:D159N	D	-	1	0	GPX1	49369962	1.000000	0.71417	0.991000	0.47740	0.367000	0.29736	7.792000	0.85828	2.414000	0.81942	0.561000	0.74099	GAT		0.627	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		12	48	0	0	0	1	0	12	48				
SFTPA1	653509	broad.mit.edu	37	10	81371740	81371740	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:81371740C>T	ENST00000398636.3	+	3	297	c.159C>T	c.(157-159)gaC>gaT	p.D53D	SFTPA1_ENST00000428376.2_Silent_p.D53D|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Silent_p.D53D|SFTPA1_ENST00000419470.2_Silent_p.D68D	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	53	Collagen-like.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCAAAGGAGACCCTGGCCCTC	0.637																																						ENST00000398636.3																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(157-159)gaC>gaT		surfactant protein A1							69.0	60.0	63.0					10																	81371740		2202	4276	6478	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81371740C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.159C>T	10.37:g.81371740C>T						SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Silent_p.D53D|SFTPA1_ENST00000419470.2_Silent_p.D68D|SFTPA1_ENST00000428376.2_Silent_p.D53D	p.D53D	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	297	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		53			Collagen-like.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.159C>T	CCDS44445.1																																																																																				0.637	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		12	44	0	0	0	1	0	12	44				
LMNTD2	256329	broad.mit.edu	37	11	557947	557947	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:557947G>A	ENST00000329451.3	-	5	554	c.492C>T	c.(490-492)ctC>ctT	p.L164L	RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		164										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCTGCAGGAGGCAGGACT	0.677																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(490-492)ctC>ctT		chromosome 11 open reading frame 35							23.0	23.0	23.0					11																	557947		2197	4297	6494	SO:0001819	synonymous_variant	256329							g.chr11:557947G>A																												ENST00000329451.3:c.492C>T	11.37:g.557947G>A						RP11-496I9.1_ENST00000527620.1_RNA	p.L164L	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	554	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	164						Silent	SNP	ENST00000329451.3	37	c.492C>T	CCDS7701.1																																																																																				0.677	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			5	22	0	0	0	1	0	5	22				
STARD6	147323	broad.mit.edu	37	18	51851063	51851063	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr18:51851063C>T	ENST00000581310.1	-	9	1035	c.662G>A	c.(661-663)tGa>tAa	p.*221*	STARD6_ENST00000580990.2_Silent_p.*97*|STARD6_ENST00000307844.3_Silent_p.*221*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	0					lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTTTTGGTATCATGAATGACT	0.348																																						ENST00000581310.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8						c.(661-663)tGa>tAa		StAR-related lipid transfer (START) domain containing 6							151.0	135.0	141.0					18																	51851063		2202	4300	6502	SO:0001819	synonymous_variant	147323				lipid transport		lipid binding	g.chr18:51851063C>T	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.662G>A	18.37:g.51851063C>T						STARD6_ENST00000307844.3_Silent_p.*221*|STARD6_ENST00000580990.2_Silent_p.*97*	p.*221*			P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	9	1035	-			0						Silent	SNP	ENST00000581310.1	37	c.662G>A	CCDS11955.1																																																																																				0.348	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		20	86	0	0	0	1	0	20	86				
ZNF276	92822	broad.mit.edu	37	16	89804288	89804288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:89804288C>T	ENST00000443381.2	+	10	1646	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	ZNF276_ENST00000568064.1_Nonsense_Mutation_p.R425*|ZNF276_ENST00000446326.2_Nonsense_Mutation_p.R303*|ZNF276_ENST00000289816.5_Nonsense_Mutation_p.R442*|FANCA_ENST00000389301.3_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCACCAAATGCGACATTCGGG	0.572																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1324-1326)Cga>Tga		zinc finger protein 276							125.0	113.0	117.0					16																	89804288		2198	4300	6498	SO:0001587	stop_gained	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804288C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1549C>T	16.37:g.89804288C>T	ENSP00000415836:p.Arg517*					ZNF276_ENST00000443381.2_Nonsense_Mutation_p.R517*|ZNF276_ENST00000446326.2_Nonsense_Mutation_p.R303*|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_Nonsense_Mutation_p.R425*	p.R442*	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	10	1636	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	517					Q0VGA1|Q2TBE8|Q3B7H7	Nonsense_Mutation	SNP	ENST00000443381.2	37	c.1324C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	38	6.976267	0.97975	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	.	.	.	5.62	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-37.8397	8.6263	0.33892	0.1505:0.7733:0.0:0.0762	.	.	.	.	X	303;442;517	.	ENSP00000289816:R442X	R	+	1	2	ZNF276	88331789	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.580000	0.53907	1.385000	0.46445	0.555000	0.69702	CGA		0.572	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		13	66	0	0	0	1	0	13	66				
DEF8	54849	broad.mit.edu	37	16	90020771	90020771	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:90020771C>T	ENST00000268676.7	+	3	383	c.294C>T	c.(292-294)gaC>gaT	p.D98D	DEF8_ENST00000418391.2_Silent_p.D37D|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Silent_p.D37D|DEF8_ENST00000570182.1_Silent_p.D37D|DEF8_ENST00000563594.1_Silent_p.D37D|DEF8_ENST00000563795.1_Silent_p.D37D	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	98					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGGTCCCGGACGTCACTCCTG	0.647																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(109-111)gaC>gaT		differentially expressed in FDCP 8 homolog (mouse)							68.0	67.0	67.0					16																	90020771		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90020771C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.294C>T	16.37:g.90020771C>T						DEF8_ENST00000563795.1_Silent_p.D37D|DEF8_ENST00000570182.1_Silent_p.D37D|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Silent_p.D37D|DEF8_ENST00000268676.7_Silent_p.D98D|DEF8_ENST00000418391.2_Silent_p.D37D	p.D37D	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	3	1108	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	98					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.111C>T	CCDS10989.1																																																																																				0.647	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		8	57	0	0	0	1	0	8	57				
SMC5	23137	broad.mit.edu	37	9	72962884	72962884	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:72962884A>T	ENST00000361138.5	+	22	2877	c.2819A>T	c.(2818-2820)aAt>aTt	p.N940I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	940					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAAAATTAATGAAAAATTC	0.274																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2818-2820)aAt>aTt		structural maintenance of chromosomes 5							31.0	35.0	33.0					9																	72962884		2181	4274	6455	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72962884A>T	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2819A>T	9.37:g.72962884A>T	ENSP00000354957:p.Asn940Ile					SMC5_ENST00000471372.1_3'UTR	p.N940I	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			22	2877	+			940					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.2819A>T	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947492	0.73672	.	.	ENSG00000198887	ENST00000361138	T	0.80480	-1.38	5.9	5.9	0.94986	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90940	0.7152	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91900	0.5531	10	0.56958	D	0.05	-28.995	16.3291	0.83001	1.0:0.0:0.0:0.0	.	940	Q8IY18	SMC5_HUMAN	I	940	ENSP00000354957:N940I	ENSP00000354957:N940I	N	+	2	0	SMC5	72152704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.922000	0.92789	2.257000	0.74773	0.528000	0.53228	AAT		0.274	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		11	53	0	0	0	1	0	11	53				
TP53BP2	7159	broad.mit.edu	37	1	223983857	223983857	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:223983857T>C	ENST00000343537.7	-	13	2675	c.2384A>G	c.(2383-2385)aAt>aGt	p.N795S	TP53BP2_ENST00000391879.2_Missense_Mutation_p.N28S|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.N666S	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	789					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAAATATGGATTCTGGATTTC	0.512																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1996-1998)aAt>aGt		tumor protein p53 binding protein, 2							121.0	132.0	128.0					1																	223983857		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223983857T>C	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2384A>G	1.37:g.223983857T>C	ENSP00000341957:p.Asn795Ser					TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.N28S|TP53BP2_ENST00000343537.7_Missense_Mutation_p.N795S	p.N666S	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	14	2765	-			789					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1997A>G	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770659	0.49680	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.51325	0.83;0.99;0.71	5.55	4.42	0.53409	.	0.479976	0.26514	N	0.023955	T	0.57227	0.2039	L	0.47716	1.5	0.31211	N	0.698654	P;D	0.69078	0.595;0.997	B;D	0.70716	0.192;0.97	T	0.60910	-0.7169	10	0.49607	T	0.09	.	8.848	0.35181	0.0:0.1451:0.0:0.8549	.	795;789	B4DG66;Q13625	.;ASPP2_HUMAN	S	666;795;28	ENSP00000375750:N666S;ENSP00000341957:N795S;ENSP00000375751:N28S	ENSP00000341957:N795S	N	-	2	0	TP53BP2	222050480	1.000000	0.71417	0.860000	0.33809	0.948000	0.59901	2.545000	0.45769	0.946000	0.37632	0.460000	0.39030	AAT		0.512	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		22	105	0	0	0	1	0	22	105				
VEGFB	7423	broad.mit.edu	37	11	64003411	64003411	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:64003411G>A	ENST00000309422.2	+	3	526	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_Missense_Mutation_p.R77H|RP11-783K16.14_ENST00000534988.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	77					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	ACTGTGCAGCGCTGTGGTGGC	0.682																																						ENST00000309422.2																			0				endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						c.(229-231)cGc>cAc		vascular endothelial growth factor B							56.0	50.0	52.0					11																	64003411		2200	4296	6496	SO:0001583	missense	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64003411G>A	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.230G>A	11.37:g.64003411G>A	ENSP00000311127:p.Arg77His					VEGFB_ENST00000426086.2_Missense_Mutation_p.R77H	p.R77H	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN			3	526	+			77					Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	c.230G>A	CCDS8062.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928465	0.73327	.	.	ENSG00000173511	ENST00000309422;ENST00000426086	.	.	.	4.92	4.92	0.64577	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	D	0.83667	0.5304	M	0.87456	2.885	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86755	0.1963	9	0.87932	D	0	-28.1528	15.4182	0.74987	0.0:0.0:1.0:0.0	.	77;77	P49765-2;P49765	.;VEGFB_HUMAN	H	77	.	ENSP00000311127:R77H	R	+	2	0	VEGFB	63759987	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.756000	0.55205	2.439000	0.82584	0.561000	0.74099	CGC		0.682	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		7	22	0	0	0	1	0	7	22				
TAF1	6872	broad.mit.edu	37	X	70603878	70603878	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:70603878C>A	ENST00000373790.4	+	13	2062	c.2011C>A	c.(2011-2013)Ctc>Atc	p.L671I	TAF1_ENST00000449580.1_Missense_Mutation_p.L671I|TAF1_ENST00000423759.1_Missense_Mutation_p.L692I|TAF1_ENST00000276072.3_Missense_Mutation_p.L692I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	671	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACCTCAGGACCTCACAGGCAA	0.428																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2011-2013)Ctc>Atc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							200.0	162.0	175.0					X																	70603878		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603878C>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2011C>A	X.37:g.70603878C>A	ENSP00000362895:p.Leu671Ile					TAF1_ENST00000423759.1_Missense_Mutation_p.L692I|TAF1_ENST00000276072.3_Missense_Mutation_p.L692I|TAF1_ENST00000373790.4_Missense_Mutation_p.L671I	p.L671I			P21675	TAF1_HUMAN			13	2062	+	Renal(35;0.156)	all_lung(315;0.000321)	671					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2011C>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.067211	0.76301	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.88	5.01	0.66863	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	M	0.84773	2.715	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65829	-0.6073	10	0.72032	D	0.01	.	14.4381	0.67296	0.0:0.9265:0.0:0.0735	.	671;692	P21675;P21675-2	TAF1_HUMAN;.	I	671;671;692;692	ENSP00000362895:L671I;ENSP00000389000:L671I;ENSP00000406549:L692I;ENSP00000276072:L692I	ENSP00000276072:L692I	L	+	1	0	TAF1	70520603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.484000	0.60271	2.474000	0.83562	0.600000	0.82982	CTC		0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		11	128	1	0	0.000673444	1	0.000688084	11	128				
PADI3	51702	broad.mit.edu	37	1	17586195	17586195	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:17586195C>T	ENST00000375460.3	+	2	255	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	72					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCTTTGACGCGACTTTGGAG	0.597																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(214-216)gCg>gTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						79.0	66.0	70.0					1																	17586195		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17586195C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.215C>T	1.37:g.17586195C>T	ENSP00000364609:p.Ala72Val						p.A72V	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	2	255	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	72					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.215C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	8.572	0.880229	0.17467	.	.	ENSG00000142619	ENST00000375460	T	0.10099	2.91	5.2	-3.66	0.04489	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	1.605260	0.03128	N	0.164719	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39418	-0.9615	10	0.52906	T	0.07	0.1931	4.7011	0.12827	0.4182:0.2254:0.0:0.3564	.	72	Q9ULW8	PADI3_HUMAN	V	72	ENSP00000364609:A72V	ENSP00000364609:A72V	A	+	2	0	PADI3	17458782	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.248000	0.00541	-0.540000	0.06265	-0.217000	0.12591	GCG		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			17	51	0	0	0	1	0	17	51				
LTB	4050	broad.mit.edu	37	6	31548884	31548884	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:31548884G>A	ENST00000429299.2	-	4	344	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	113					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CCGCTCGTCAGAAACGCCTGT	0.682																																						ENST00000429299.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(337-339)Ctg>Ttg		lymphotoxin beta (TNF superfamily, member 3)	Infliximab(DB00065)|Simvastatin(DB00641)						32.0	36.0	35.0					6																	31548884		1508	2708	4216	SO:0001819	synonymous_variant	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548884G>A	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.337C>T	6.37:g.31548884G>A						LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	p.L113L	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN			4	344	-			113					P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	c.337C>T	CCDS4703.1																																																																																				0.682	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			22	27	0	0	0	1	0	22	27				
LGALS2	3957	broad.mit.edu	37	22	37967898	37967898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr22:37967898G>C	ENST00000215886.4	-	2	221	c.47C>G	c.(46-48)tCa>tGa	p.S16*		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	16	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CTTCAGGGTTGACCCCGGCTT	0.572																																					GBM(193;1840 2185 13711 20676 24505)	ENST00000215886.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11						c.(46-48)tCa>tGa		lectin, galactoside-binding, soluble, 2							159.0	134.0	143.0					22																	37967898		2203	4300	6503	SO:0001587	stop_gained	3957							g.chr22:37967898G>C		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.47C>G	22.37:g.37967898G>C	ENSP00000215886:p.Ser16*						p.S16*	NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN			2	221	-	Melanoma(58;0.0574)		16			Galectin.		Q6FGY4	Nonsense_Mutation	SNP	ENST00000215886.4	37	c.47C>G	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375148	0.95923	.	.	ENSG00000100079	ENST00000215886;ENST00000416480	.	.	.	5.15	-3.07	0.05363	.	1.454960	0.03495	N	0.217243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	2.1979	1.949	0.03363	0.1487:0.1963:0.1829:0.4721	.	.	.	.	X	16	.	ENSP00000215886:S16X	S	-	2	0	LGALS2	36297844	0.000000	0.05858	0.006000	0.13384	0.933000	0.57130	-0.318000	0.08050	-0.101000	0.12219	0.561000	0.74099	TCA		0.572	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		18	74	0	0	0	1	0	18	74				
LRRTM3	347731	broad.mit.edu	37	10	68688010	68688010	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:68688010C>T	ENST00000361320.4	+	2	1914	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	446					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAAGCGGTACCCTGCGAGCAT	0.537																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1336-1338)Cct>Tct		leucine rich repeat transmembrane neuronal 3							90.0	89.0	89.0					10																	68688010		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68688010C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1336C>T	10.37:g.68688010C>T	ENSP00000355187:p.Pro446Ser					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.P446S	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1914	+			446					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1336C>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876084	0.72180	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.79554	-1.28	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	D	0.90601	0.7053	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90270	0.4307	10	0.59425	D	0.04	.	19.3958	0.94607	0.0:1.0:0.0:0.0	.	446;446	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	S	446	ENSP00000355187:P446S	ENSP00000355187:P446S	P	+	1	0	LRRTM3	68358016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	CCT		0.537	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		30	80	0	0	0	1	0	30	80				
GGT1	2678	broad.mit.edu	37	22	25007085	25007085	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr22:25007085G>A	ENST00000400382.1	+	5	792	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	GGT1_ENST00000248923.4_Missense_Mutation_p.V13M|GGT1_ENST00000406383.2_Missense_Mutation_p.V13M|GGT1_ENST00000400380.1_Missense_Mutation_p.V13M|GGT1_ENST00000400383.1_Missense_Mutation_p.V13M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	13					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCTGCTGGCCGTGGTCCTGGT	0.627																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(37-39)Gtg>Atg		gamma-glutamyltransferase 1	Glutathione(DB00143)						10.0	10.0	10.0					22																	25007085		1956	4102	6058	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25007085G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.37G>A	22.37:g.25007085G>A	ENSP00000383232:p.Val13Met					GGT1_ENST00000406383.2_Missense_Mutation_p.V13M|GGT1_ENST00000400380.1_Missense_Mutation_p.V13M|GGT1_ENST00000248923.4_Missense_Mutation_p.V13M|GGT1_ENST00000400383.1_Missense_Mutation_p.V13M	p.V13M			P19440	GGT1_HUMAN			5	792	+			13					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.37G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698108	0.30142	.	.	ENSG00000100031	ENST00000248923;ENST00000456869;ENST00000411974;ENST00000412658;ENST00000445029;ENST00000419133;ENST00000400382;ENST00000438643;ENST00000452551;ENST00000400383;ENST00000412898;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26957	3.52;1.79;3.4;1.7;1.82;3.52;1.78;3.52;1.74;3.52;1.74;1.76;1.78;1.77;1.78;3.52;1.78	3.5	1.19	0.21007	.	0.594837	0.15115	U	0.279721	T	0.23171	0.0560	M	0.62723	1.935	0.09310	N	1	B	0.24258	0.1	B	0.17433	0.018	T	0.18555	-1.0333	10	0.52906	T	0.07	-0.9664	6.786	0.23673	0.2562:0.0:0.7438:0.0	.	13	P19440	GGT1_HUMAN	M	13	ENSP00000248923:V13M;ENSP00000389935:V13M;ENSP00000393537:V13M;ENSP00000393135:V13M;ENSP00000395271:V13M;ENSP00000383232:V13M;ENSP00000415553:V13M;ENSP00000383233:V13M;ENSP00000408151:V13M;ENSP00000383231:V13M;ENSP00000415024:V13M;ENSP00000417044:V13M;ENSP00000400621:V13M;ENSP00000398589:V13M;ENSP00000387796:V13M;ENSP00000385975:V13M;ENSP00000415068:V13M	ENSP00000248923:V13M	V	+	1	0	GGT1	23337085	0.300000	0.24435	0.002000	0.10522	0.994000	0.84299	2.118000	0.41949	0.230000	0.21059	0.650000	0.86243	GTG		0.627	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		4	14	0	0	0	1	0	4	14				
HELZ2	85441	broad.mit.edu	37	20	62193700	62193700	+	Missense_Mutation	SNP	G	G	A	rs571327252	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr20:62193700G>A	ENST00000467148.1	-	9	6407	c.6338C>T	c.(6337-6339)gCg>gTg	p.A2113V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A1544V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2113					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAGCGGGGACGCCTCCTCTAG	0.677													G|||	2	0.000399361	0.0	0.0029	5008	,	,		5248	0.0		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(6337-6339)gCg>gTg		helicase with zinc finger 2, transcriptional coactivator							11.0	12.0	12.0					20																	62193700		2155	4259	6414	SO:0001583	missense	85441							g.chr20:62193700G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6338C>T	20.37:g.62193700G>A	ENSP00000417401:p.Ala2113Val					HELZ2_ENST00000427522.2_Missense_Mutation_p.A1544V	p.A2113V	NM_001037335.2	NP_001032412.2					9	6407	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.6338C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234178	0.39498	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80994	-1.44;-1.33	3.8	3.8	0.43715	.	0.870668	0.09892	N	0.742220	D	0.85396	0.5687	M	0.72894	2.215	0.09310	N	1	D;D	0.59357	0.984;0.985	P;P	0.54431	0.625;0.752	T	0.74390	-0.3681	10	0.30854	T	0.27	-30.6235	13.147	0.59467	0.0:0.0:1.0:0.0	.	2113;1544	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	1544;2113	ENSP00000393257:A1544V;ENSP00000417401:A2113V	ENSP00000393257:A1544V	A	-	2	0	RP4-697K14.7	61664144	0.974000	0.33945	0.094000	0.20943	0.087000	0.18053	2.179000	0.42528	1.672000	0.50884	0.313000	0.20887	GCG		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	9	0	0	0	1	0	4	9				
MED10	84246	broad.mit.edu	37	5	6374523	6374523	+	Silent	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:6374523G>T	ENST00000255764.3	-	3	333	c.223C>A	c.(223-225)Cga>Aga	p.R75R		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	75					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TGGGGATTTCGACCTTGATCT	0.423																																						ENST00000255764.3																			0				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(223-225)Cga>Aga		mediator complex subunit 10							158.0	152.0	154.0					5																	6374523		2203	4300	6503	SO:0001819	synonymous_variant	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6374523G>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.223C>A	5.37:g.6374523G>T							p.R75R	NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN			3	333	-			75					C6G491	Silent	SNP	ENST00000255764.3	37	c.223C>A	CCDS34134.1																																																																																				0.423	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		9	120	1	0	1.05317e-09	1	1.11484e-09	9	120				
HMCN1	83872	broad.mit.edu	37	1	186106782	186106782	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:186106782C>G	ENST00000271588.4	+	88	13964	c.13735C>G	c.(13735-13737)Caa>Gaa	p.Q4579E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4579E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4579	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCGAAACTGTCAAAATAAGCC	0.458																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13735-13737)Caa>Gaa		hemicentin 1							81.0	83.0	83.0					1																	186106782		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106782C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13735C>G	1.37:g.186106782C>G	ENSP00000271588:p.Gln4579Glu					HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4579E	p.Q4579E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			88	13964	+			4579			TSP type-1 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13735C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379668	0.42207	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.49432	0.78;0.78	5.78	4.85	0.62838	.	0.315886	0.39083	N	0.001478	T	0.40694	0.1127	L	0.37800	1.135	0.45718	D	0.998627	B	0.23735	0.09	B	0.28385	0.089	T	0.16689	-1.0394	10	0.20519	T	0.43	.	16.0245	0.80532	0.1355:0.8645:0.0:0.0	.	4579	Q96RW7	HMCN1_HUMAN	E	4579	ENSP00000271588:Q4579E;ENSP00000356462:Q4579E	ENSP00000271588:Q4579E	Q	+	1	0	HMCN1	184373405	1.000000	0.71417	0.905000	0.35620	0.553000	0.35397	4.501000	0.60393	1.403000	0.46800	0.650000	0.86243	CAA		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	48	0	0	0	1	0	9	48				
TCF20	6942	broad.mit.edu	37	22	42605836	42605836	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr22:42605836G>A	ENST00000359486.3	-	1	5612	c.5476C>T	c.(5476-5478)Ccc>Tcc	p.P1826S	TCF20_ENST00000335626.4_Missense_Mutation_p.P1826S|TCF20_ENST00000404876.1_Missense_Mutation_p.P127S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1826					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCACGGAGGGCTTCGAGTCC	0.542																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5476-5478)Ccc>Tcc		transcription factor 20 (AR1)							118.0	121.0	120.0					22																	42605836		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605836G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5476C>T	22.37:g.42605836G>A	ENSP00000352463:p.Pro1826Ser					TCF20_ENST00000404876.1_Missense_Mutation_p.P127S|TCF20_ENST00000335626.4_Missense_Mutation_p.P1826S	p.P1826S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5612	-			1826					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5476C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335294	0.60853	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.68181	0.3;0.3;-0.31	6.07	6.07	0.98685	.	0.167338	0.42821	D	0.000651	T	0.79969	0.4538	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79524	-0.1768	10	0.66056	D	0.02	-16.5528	18.8245	0.92111	0.0:0.0:1.0:0.0	.	1826;1826	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	1826;1826;127	ENSP00000352463:P1826S;ENSP00000335561:P1826S;ENSP00000385531:P127S	ENSP00000335561:P1826S	P	-	1	0	TCF20	40935780	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.044000	0.64214	2.884000	0.98904	0.655000	0.94253	CCC		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	199	0	0	0	1	0	8	199				
MUC16	94025	broad.mit.edu	37	19	8993422	8993422	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:8993422G>A	ENST00000397910.4	-	66	41870	c.41667C>T	c.(41665-41667)atC>atT	p.I13889I	MUC16_ENST00000380951.5_Silent_p.I530I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13892	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGCTCAGTGATGCTGTGGG	0.592																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41665-41667)atC>atT		mucin 16, cell surface associated							149.0	137.0	141.0					19																	8993422		2037	4189	6226	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993422G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41667C>T	19.37:g.8993422G>A						MUC16_ENST00000380951.5_Silent_p.I530I	p.I13889I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			66	41870	-			13892	Missing (in Ref. 3; AAK74120).		SEA 12.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41667C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.831	-0.035757	0.07497	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.61	2.55	0.30701	.	.	.	.	.	T	0.50017	0.1591	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58346	-0.7652	3	.	.	.	.	9.0367	0.36291	0.0:0.2266:0.7734:0.0	.	.	.	.	L	729	.	.	S	-	2	0	MUC16	8854422	0.878000	0.30173	0.039000	0.18376	0.023000	0.10783	0.543000	0.23237	0.865000	0.35603	0.557000	0.71058	TCA		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	172	0	0	0	1	0	23	172				
PRKACA	5566	broad.mit.edu	37	19	14217608	14217608	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:14217608C>T	ENST00000308677.4	-	3	397	c.201G>A	c.(199-201)ggG>ggA	p.G67G	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.G59G	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	67	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CATAGTGGTTCCCGGTCTCCT	0.592																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(199-201)ggG>ggA		protein kinase, cAMP-dependent, catalytic, alpha							139.0	122.0	128.0					19																	14217608		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14217608C>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.201G>A	19.37:g.14217608C>T						PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.G59G|PRKACA_ENST00000350356.3_5'UTR	p.G67G	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			3	397	-			67			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.201G>A	CCDS12304.1																																																																																				0.592	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		6	84	0	0	0	1	0	6	84				
SYNGAP1	8831	broad.mit.edu	37	6	33391282	33391282	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:33391282C>T	ENST00000418600.2	+	2	197	c.96C>T	c.(94-96)acC>acT	p.T32T	SYNGAP1_ENST00000293748.5_Silent_p.T32T|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	32					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCACCGAACCCAATACGTTC	0.527																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(94-96)acC>acT		synaptic Ras GTPase activating protein 1							263.0	227.0	239.0					6																	33391282		2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33391282C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.96C>T	6.37:g.33391282C>T						SYNGAP1_ENST00000293748.5_Silent_p.T32T|SYNGAP1_ENST00000496374.1_3'UTR	p.T32T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			2	197	+			32					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.96C>T	CCDS34434.2																																																																																				0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		13	203	0	0	0	1	0	13	203				
METTL17	64745	broad.mit.edu	37	14	21460779	21460779	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:21460779G>A	ENST00000339374.6	+	5	759	c.526G>A	c.(526-528)Gag>Aag	p.E176K	METTL17_ENST00000382985.4_Missense_Mutation_p.E176K|METTL17_ENST00000556670.2_Missense_Mutation_p.E176K	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	176					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						AGCATTCCATGAGGTGAAAGT	0.453																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(526-528)Gag>Aag		methyltransferase like 17							99.0	101.0	100.0					14																	21460779		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21460779G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.526G>A	14.37:g.21460779G>A	ENSP00000343041:p.Glu176Lys					METTL17_ENST00000382985.4_Missense_Mutation_p.E176K|METTL17_ENST00000556670.2_Missense_Mutation_p.E176K	p.E176K	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			5	759	+			176					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.526G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883906	0.91814	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000553564;ENST00000554751;ENST00000555670	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.86	5.86	0.93980	.	0.055369	0.64402	D	0.000001	T	0.62233	0.2411	M	0.83774	2.66	0.53688	D	0.99997	D;D;D	0.67145	0.996;0.994;0.992	P;D;P	0.65573	0.894;0.936;0.894	T	0.65154	-0.6237	10	0.59425	D	0.04	.	15.6803	0.77364	0.0:0.0:1.0:0.0	.	176;176;176	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	K	176;176;94;94;94	ENSP00000343041:E176K;ENSP00000372445:E176K;ENSP00000451478:E94K;ENSP00000451049:E94K	ENSP00000343041:E176K	E	+	1	0	METTL17	20530619	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.923000	0.70045	2.777000	0.95525	0.655000	0.94253	GAG		0.453	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		12	50	0	0	0	1	0	12	50				
RING1	6015	broad.mit.edu	37	6	33176605	33176605	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:33176605G>A	ENST00000374656.4	+	2	214	c.6G>A	c.(4-6)acG>acA	p.T2T	MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	2					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TCACCATGACGACGCCGGCGA	0.652																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(4-6)acG>acA		ring finger protein 1							50.0	33.0	39.0					6																	33176605		1511	2709	4220	SO:0001819	synonymous_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33176605G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.6G>A	6.37:g.33176605G>A							p.T2T	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			2	214	+			2					A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Silent	SNP	ENST00000374656.4	37	c.6G>A	CCDS34424.1																																																																																				0.652	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			4	26	0	0	0	1	0	4	26				
HTR1D	3352	broad.mit.edu	37	1	23520183	23520183	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:23520183C>T	ENST00000374619.1	-	1	1039	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R177Q(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTTGGCCTGCCGCCAGAAGAG	0.597																																						ENST00000374619.1																			1	Substitution - Missense(1)	p.R177Q(1)	upper_aerodigestive_tract(1)	NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(529-531)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						51.0	58.0	56.0					1																	23520183		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520183C>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.530G>A	1.37:g.23520183C>T	ENSP00000363748:p.Arg177Gln					HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1039	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	177						Missense_Mutation	SNP	ENST00000374619.1	37	c.530G>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208456	0.79240	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.38077	1.16;1.16	5.31	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.58510	1.815	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.56854	-0.7910	10	0.51188	T	0.08	.	14.4357	0.67279	0.1485:0.8515:0.0:0.0	.	177	P28221	5HT1D_HUMAN	Q	177	ENSP00000313661:R177Q;ENSP00000363748:R177Q	ENSP00000313661:R177Q	R	-	2	0	HTR1D	23392770	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	1.244000	0.43870	0.467000	0.42956	CGG		0.597	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		9	39	0	0	0	1	0	9	39				
LRRC61	65999	broad.mit.edu	37	7	150034380	150034380	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:150034380C>G	ENST00000359623.4	+	3	1018	c.430C>G	c.(430-432)Ccc>Gcc	p.P144A	LRRC61_ENST00000493307.1_Missense_Mutation_p.P144A|LRRC61_ENST00000323078.7_Missense_Mutation_p.P144A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	144	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGTGCCAACCCCTCCTACTG	0.657																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(430-432)Ccc>Gcc		leucine rich repeat containing 61							58.0	58.0	58.0					7																	150034380		2203	4300	6503	SO:0001583	missense	65999							g.chr7:150034380C>G	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.430C>G	7.37:g.150034380C>G	ENSP00000352642:p.Pro144Ala					LRRC61_ENST00000493307.1_Missense_Mutation_p.P144A|LRRC61_ENST00000323078.7_Missense_Mutation_p.P144A	p.P144A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1018	+			144			LRRCT.		B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	c.430C>G	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	2.312	-0.357763	0.05138	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.24538	1.85;1.85;1.85	3.82	0.851	0.18989	.	0.413845	0.24669	N	0.036564	T	0.09024	0.0223	N	0.04880	-0.145	0.29883	N	0.825836	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	10	0.16420	T	0.52	-15.0019	4.7187	0.12909	0.0:0.4497:0.3414:0.2088	.	144	Q9BV99	LRC61_HUMAN	A	144	ENSP00000339047:P144A;ENSP00000352642:P144A;ENSP00000420560:P144A	ENSP00000339047:P144A	P	+	1	0	LRRC61	149665313	0.000000	0.05858	0.265000	0.24526	0.512000	0.34134	-0.118000	0.10692	0.294000	0.22547	0.306000	0.20318	CCC		0.657	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		4	29	0	0	0	1	0	4	29				
STOX1	219736	broad.mit.edu	37	10	70645099	70645099	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:70645099C>T	ENST00000298596.6	+	3	1630	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	STOX1_ENST00000399169.4_Missense_Mutation_p.T516M|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.T406M|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	516						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ATTCAGAAGACGAGTGATCTG	0.438																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1546-1548)aCg>aTg		storkhead box 1							51.0	48.0	49.0					10																	70645099		1869	4097	5966	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645099C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1547C>T	10.37:g.70645099C>T	ENSP00000298596:p.Thr516Met					STOX1_ENST00000399169.4_Missense_Mutation_p.T516M|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.T406M	p.T516M	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1630	+			516					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1547C>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205389	0.39003	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74421	-0.84;-0.84;-0.52	5.98	-2.14	0.07123	.	1.105900	0.06634	N	0.759746	T	0.69097	0.3073	M	0.67953	2.075	0.09310	N	1	P	0.51240	0.943	P	0.45037	0.467	T	0.61028	-0.7145	10	0.66056	D	0.02	.	1.2767	0.02032	0.1996:0.3524:0.2419:0.2061	.	516	Q6ZVD7	STOX1_HUMAN	M	516;516;406	ENSP00000382121:T516M;ENSP00000298596:T516M;ENSP00000394509:T406M	ENSP00000298596:T516M	T	+	2	0	STOX1	70315105	0.065000	0.20965	0.081000	0.20488	0.620000	0.37586	0.429000	0.21412	-0.073000	0.12842	0.591000	0.81541	ACG		0.438	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		6	58	0	0	0	1	0	6	58				
ADAM21	8747	broad.mit.edu	37	14	70926267	70926267	+	Missense_Mutation	SNP	T	T	C	rs78717717		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:70926267T>C	ENST00000603540.1	+	2	2309	c.2051T>C	c.(2050-2052)tTg>tCg	p.L684S	ADAM21_ENST00000267499.3_Missense_Mutation_p.L684S|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	684					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGAGTTTTTTTGCCGCTGATT	0.488																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(2050-2052)tTg>tCg		ADAM metallopeptidase domain 21							71.0	57.0	62.0					14																	70926267		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70926267T>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2051T>C	14.37:g.70926267T>C	ENSP00000474385:p.Leu684Ser					ADAM21_ENST00000267499.3_Missense_Mutation_p.L684S|RP11-486O13.4_ENST00000556646.1_lincRNA	p.L684S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	2309	+			684					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.2051T>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744261	0.15710	.	.	ENSG00000139985	ENST00000267499	T	0.01192	5.2	4.62	0.592	0.17471	.	2.134690	0.03162	U	0.169513	T	0.01124	0.0037	N	0.04880	-0.145	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.51601	-0.8685	10	0.54805	T	0.06	.	13.4882	0.61379	0.0:0.0:0.5293:0.4707	.	684	Q9UKJ8	ADA21_HUMAN	S	684	ENSP00000267499:L684S	ENSP00000267499:L684S	L	+	2	0	ADAM21	69996020	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.182000	0.16900	0.014000	0.14944	-0.316000	0.08728	TTG		0.488	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			7	58	0	0	0	1	0	7	58				
CYP7B1	9420	broad.mit.edu	37	8	65537090	65537090	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr8:65537090G>A	ENST00000310193.3	-	2	302	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	43					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.P43P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GAGGCTCACCGGGTCTCCTAC	0.363																																						ENST00000310193.3																			1	Substitution - coding silent(1)	p.P43P(1)	endometrium(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(127-129)ccC>ccT		cytochrome P450, family 7, subfamily B, polypeptide 1							91.0	92.0	92.0					8																	65537090		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65537090G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.129C>T	8.37:g.65537090G>A							p.P43P	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			2	302	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	43					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.129C>T	CCDS6180.1																																																																																				0.363	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			17	122	0	0	0	1	0	17	122				
C3orf20	84077	broad.mit.edu	37	3	14798948	14798948	+	Missense_Mutation	SNP	C	C	T	rs199803083		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:14798948C>T	ENST00000253697.3	+	13	2463	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	C3orf20_ENST00000412910.1_Missense_Mutation_p.R549W|C3orf20_ENST00000435614.1_Missense_Mutation_p.R549W	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	671						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R671W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTGGTGCTGCGGAAGCTCAT	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		18903	0.001		0.0	False		,,,				2504	0.0					ENST00000253697.3																			1	Substitution - Missense(1)	p.R671W(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2011-2013)Cgg>Tgg		chromosome 3 open reading frame 20							48.0	48.0	48.0					3																	14798948		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14798948C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2011C>T	3.37:g.14798948C>T	ENSP00000253697:p.Arg671Trp					C3orf20_ENST00000435614.1_Missense_Mutation_p.R549W|C3orf20_ENST00000412910.1_Missense_Mutation_p.R549W	p.R671W	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			13	2463	+			671					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2011C>T	CCDS33706.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.86	2.662677	0.47572	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.26223	2.04;1.75;1.75	4.95	4.05	0.47172	.	0.000000	0.46442	D	0.000294	T	0.48519	0.1504	M	0.76574	2.34	0.38457	D	0.94711	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54735	-0.8249	10	0.87932	D	0	-26.1088	10.4301	0.44403	0.1953:0.8047:0.0:0.0	.	549;671	Q8ND61-2;Q8ND61	.;CC020_HUMAN	W	671;549;549	ENSP00000253697:R671W;ENSP00000402933:R549W;ENSP00000396081:R549W	ENSP00000253697:R671W	R	+	1	2	C3orf20	14773952	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	0.582000	0.23834	1.041000	0.40125	0.297000	0.19635	CGG		0.682	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		12	51	0	0	0	1	0	12	51				
FAM83H	286077	broad.mit.edu	37	8	144808407	144808407	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr8:144808407G>A	ENST00000388913.3	-	5	3349	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1075					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGCAGCCGGTGGACGGCC	0.687																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3223-3225)cCg>cTg		family with sequence similarity 83, member H							13.0	17.0	16.0					8																	144808407		1955	4126	6081	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808407G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3224C>T	8.37:g.144808407G>A	ENSP00000373565:p.Pro1075Leu						p.P1075L	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3349	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1075					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3224C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	5.666	0.307540	0.10733	.	.	ENSG00000180921	ENST00000388913	T	0.13778	2.56	4.96	3.14	0.36123	.	3.171660	0.02644	N	0.105690	T	0.11836	0.0288	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20706	-1.0267	10	0.45353	T	0.12	.	5.6292	0.17501	0.1757:0.0:0.6644:0.1599	.	1075	Q6ZRV2	FA83H_HUMAN	L	1075	ENSP00000373565:P1075L	ENSP00000373565:P1075L	P	-	2	0	FAM83H	144880395	0.023000	0.18921	0.001000	0.08648	0.142000	0.21351	1.757000	0.38400	1.092000	0.41356	-0.265000	0.10407	CCG		0.687	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		4	29	0	0	0	1	0	4	29				
NUP153	9972	broad.mit.edu	37	6	17616845	17616845	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:17616845G>T	ENST00000262077.2	-	21	4255	c.4256C>A	c.(4255-4257)gCa>gAa	p.A1419E	NUP153_ENST00000537253.1_Missense_Mutation_p.A1450E|RNU6-190P_ENST00000384154.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTAGAATTTGCACCAAATGT	0.473																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(4255-4257)gCa>gAa		nucleoporin 153kDa							104.0	96.0	99.0					6																	17616845		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17616845G>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4256C>A	6.37:g.17616845G>T	ENSP00000262077:p.Ala1419Glu					NUP153_ENST00000537253.1_Missense_Mutation_p.A1450E	p.A1419E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		21	4255	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1419					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.4256C>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506142	0.64410	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.55588	0.51;0.51	5.3	5.3	0.74995	Retro-transposon transporting, conserved site (1);	0.000000	0.50627	D	0.000116	T	0.66934	0.2840	M	0.64997	1.995	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.989;0.999	T	0.69068	-0.5243	10	0.72032	D	0.01	-10.9564	19.3069	0.94165	0.0:0.0:1.0:0.0	.	1450;1399;1419	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	E	1419;1399;1450	ENSP00000262077:A1419E;ENSP00000444029:A1450E	ENSP00000262077:A1419E	A	-	2	0	NUP153	17724824	0.998000	0.40836	0.992000	0.48379	0.975000	0.68041	2.812000	0.47994	2.631000	0.89168	0.591000	0.81541	GCA		0.473	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			9	90	1	0	9.70103e-10	1	1.03156e-09	9	90				
CHAF1A	10036	broad.mit.edu	37	19	4423824	4423824	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:4423824G>A	ENST00000301280.5	+	7	1431	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	444	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAAGGCCGAAATCACGAG	0.498								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1330-1332)Gaa>Aaa	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							89.0	80.0	83.0					19																	4423824		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4423824G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1330G>A	19.37:g.4423824G>A	ENSP00000301280:p.Glu444Lys						p.E444K	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1431	+		Hepatocellular(1079;0.137)	444			Arg/Glu/Lys-rich.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1330G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771929	0.69992	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.07688	3.17	5.02	5.02	0.67125	.	.	.	.	.	T	0.21062	0.0507	M	0.68952	2.095	0.80722	D	1	D	0.58620	0.983	P	0.53988	0.739	T	0.00313	-1.1825	9	0.87932	D	0	-33.6248	15.8386	0.78824	0.0:0.0:1.0:0.0	.	444	Q13111	CAF1A_HUMAN	K	444	ENSP00000301280:E444K	ENSP00000301280:E444K	E	+	1	0	CHAF1A	4374824	1.000000	0.71417	0.717000	0.30585	0.943000	0.58893	7.425000	0.80255	2.488000	0.83962	0.561000	0.74099	GAA		0.498	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		4	94	0	0	0	1	0	4	94				
KBTBD3	143879	broad.mit.edu	37	11	105924819	105924819	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:105924819C>G	ENST00000526793.1	-	3	756	c.597G>C	c.(595-597)caG>caC	p.Q199H	KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q199H|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q120H	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	195	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCAGACATTTCTGTAGTACTC	0.323																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(595-597)caG>caC		kelch repeat and BTB (POZ) domain containing 3							47.0	49.0	49.0					11																	105924819		2201	4296	6497	SO:0001583	missense	143879							g.chr11:105924819C>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.597G>C	11.37:g.105924819C>G	ENSP00000436262:p.Gln199His					KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q199H|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q120H	p.Q199H	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	756	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	195			BACK.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.597G>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025750	0.35701	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.69040	-0.37;-0.37;-0.37	5.86	-3.77	0.04346	BTB/Kelch-associated (2);	0.148767	0.64402	D	0.000014	T	0.67021	0.2849	M	0.71036	2.16	0.30514	N	0.769136	P;P	0.37612	0.53;0.602	B;B	0.44085	0.44;0.353	T	0.70644	-0.4815	10	0.66056	D	0.02	.	14.3907	0.66975	0.0:0.5208:0.0:0.4792	.	199;195	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	H	120;199;199	ENSP00000431910:Q120H;ENSP00000436262:Q199H;ENSP00000432163:Q199H	ENSP00000436262:Q199H	Q	-	3	2	KBTBD3	105430029	0.974000	0.33945	0.875000	0.34327	0.976000	0.68499	0.077000	0.14738	-0.692000	0.05128	-0.247000	0.11927	CAG		0.323	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		13	63	0	0	0	1	0	13	63				
SETD3	84193	broad.mit.edu	37	14	99866585	99866585	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:99866585C>G	ENST00000331768.5	-	12	1348	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	397					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGCAAGTGTTCTTTCAGTTCT	0.403																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1189-1191)Gaa>Caa		SET domain containing 3							97.0	96.0	97.0					14																	99866585		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99866585C>G	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1189G>C	14.37:g.99866585C>G	ENSP00000327436:p.Glu397Gln						p.E397Q	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			12	1348	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	397					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1189G>C	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858391	0.71834	.	.	ENSG00000183576	ENST00000331768	T	0.19105	2.17	5.57	5.57	0.84162	Rubisco LS methyltransferase, substrate-binding domain (3);	0.252295	0.45867	D	0.000336	T	0.19446	0.0467	N	0.20401	0.57	0.80722	D	1	B	0.22414	0.069	B	0.33295	0.161	T	0.09100	-1.0690	10	0.21014	T	0.42	-29.8925	19.5529	0.95328	0.0:1.0:0.0:0.0	.	397	Q86TU7	SETD3_HUMAN	Q	397	ENSP00000327436:E397Q	ENSP00000327436:E397Q	E	-	1	0	SETD3	98936338	1.000000	0.71417	0.388000	0.26195	0.925000	0.55904	5.839000	0.69395	2.621000	0.88768	0.655000	0.94253	GAA		0.403	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		11	123	0	0	0	1	0	11	123				
ZNF510	22869	broad.mit.edu	37	9	99521743	99521743	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:99521743C>T	ENST00000375231.1	-	6	2019	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	ZNF510_ENST00000223428.4_Missense_Mutation_p.E457K			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TAGGGTTTTTCTGCTGTATGA	0.393																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1369-1371)Gaa>Aaa		zinc finger protein 510							92.0	94.0	94.0					9																	99521743		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521743C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1369G>A	9.37:g.99521743C>T	ENSP00000364379:p.Glu457Lys					ZNF510_ENST00000223428.4_Missense_Mutation_p.E457K	p.E457K			Q9Y2H8	ZN510_HUMAN			6	2019	-		Acute lymphoblastic leukemia(62;0.0527)	457					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1369G>A	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.058595	0.76074	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.24350	1.86;1.86	3.16	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31482	0.0798	L	0.45581	1.43	0.26675	N	0.971657	D	0.55800	0.973	P	0.52386	0.697	T	0.09465	-1.0673	9	0.72032	D	0.01	.	8.3196	0.32121	0.0:0.8785:0.0:0.1215	.	457	Q9Y2H8	ZN510_HUMAN	K	457	ENSP00000364379:E457K;ENSP00000223428:E457K	ENSP00000223428:E457K	E	-	1	0	ZNF510	98561564	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	2.406000	0.44557	0.899000	0.36444	0.655000	0.94253	GAA		0.393	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		14	126	0	0	0	1	0	14	126				
EFTUD2	9343	broad.mit.edu	37	17	42940217	42940217	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:42940217G>A	ENST00000426333.2	-	16	1768	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H456Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H491Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H481Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	491					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAAAGGCGTGAAACTGGACT	0.562																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1471-1473)Cac>Tac		elongation factor Tu GTP binding domain containing 2							110.0	88.0	96.0					17																	42940217		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42940217G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1471C>T	17.37:g.42940217G>A	ENSP00000392094:p.His491Tyr					EFTUD2_ENST00000402521.3_Missense_Mutation_p.H456Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H481Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H491Y	p.H491Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			16	1768	-		Prostate(33;0.109)	491					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1471C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	6.573	0.474005	0.12521	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.62364	0.03;0.03	6.16	6.16	0.99307	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.02368	-0.58	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.012	T	0.46527	-0.9185	10	0.02654	T	1	-10.8761	20.8598	0.99761	0.0:0.0:1.0:0.0	.	481;491	B4DMC0;Q15029	.;U5S1_HUMAN	Y	491;481;456	ENSP00000392094:H491Y;ENSP00000385873:H456Y	ENSP00000262414:H481Y	H	-	1	0	EFTUD2	40295743	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	9.430000	0.97488	2.937000	0.99478	0.650000	0.86243	CAC		0.562	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		16	43	0	0	0	1	0	16	43				
CD84	8832	broad.mit.edu	37	1	160535272	160535272	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:160535272C>T	ENST00000311224.4	-	2	376	c.310G>A	c.(310-312)Gca>Aca	p.A104T	CD84_ENST00000368051.3_Missense_Mutation_p.A104T|CD84_ENST00000368048.3_Missense_Mutation_p.A104T|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Missense_Mutation_p.A104T	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	104	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A104T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAGTCTCCTGCGTCTTCCATC	0.468																																						ENST00000368054.3																			1	Substitution - Missense(1)	p.A104T(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(310-312)Gca>Aca		CD84 molecule							334.0	263.0	287.0					1																	160535272		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535272C>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.310G>A	1.37:g.160535272C>T	ENSP00000312367:p.Ala104Thr					CD84_ENST00000311224.4_Missense_Mutation_p.A104T|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.A104T|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.A104T|CD84_ENST00000368047.3_5'UTR	p.A104T	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	345	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		104					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.310G>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006642	0.54361	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.25	-0.589	0.11683	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.569999	0.20130	N	0.098604	T	0.11324	0.0276	L	0.42529	1.33	0.09310	N	1	D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.993;0.996;0.996	P;P;P;B;P;P	0.50490	0.559;0.536;0.642;0.308;0.506;0.506	T	0.23226	-1.0194	10	0.31617	T	0.26	-1.6013	8.0978	0.30840	0.6258:0.2918:0.0:0.0823	.	104;104;104;104;104;104	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	T	104	ENSP00000357033:A104T;ENSP00000357027:A104T;ENSP00000312367:A104T;ENSP00000357030:A104T;ENSP00000353163:A104T;ENSP00000357026:A104T	ENSP00000312367:A104T	A	-	1	0	CD84	158801896	0.001000	0.12720	0.012000	0.15200	0.547000	0.35210	-0.345000	0.07770	-0.180000	0.10637	0.591000	0.81541	GCA		0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		65	222	0	0	0	1	0	65	222				
LRRC10	376132	broad.mit.edu	37	12	70004328	70004328	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:70004328C>G	ENST00000361484.3	-	1	614	c.291G>C	c.(289-291)ttG>ttC	p.L97F		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	97					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGAGCTGTTTCAAGGTGCACA	0.572																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(289-291)ttG>ttC		leucine rich repeat containing 10							80.0	76.0	78.0					12																	70004328		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004328C>G	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.291G>C	12.37:g.70004328C>G	ENSP00000355166:p.Leu97Phe						p.L97F	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	614	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		97					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.291G>C	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212190	0.58452	.	.	ENSG00000198812	ENST00000361484	T	0.37584	1.19	5.62	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.82193	2.58	0.49299	D	0.999778	D	0.89917	1.0	D	0.85130	0.997	T	0.53892	-0.8374	10	0.87932	D	0	.	4.0698	0.09877	0.1326:0.6023:0.128:0.1371	.	97	Q5BKY1	LRC10_HUMAN	F	97	ENSP00000355166:L97F	ENSP00000355166:L97F	L	-	3	2	LRRC10	68290595	0.957000	0.32711	0.968000	0.41197	0.968000	0.65278	1.185000	0.32065	0.399000	0.25367	0.555000	0.69702	TTG		0.572	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		14	148	0	0	0	1	0	14	148				
HMGCS1	3157	broad.mit.edu	37	5	43298225	43298225	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:43298225G>A	ENST00000325110.6	-	4	666	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	HMGCS1_ENST00000433297.2_Silent_p.L154L	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	154					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GCAACTACCAGGGCATACCGT	0.403																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(460-462)Ctg>Ttg		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							101.0	94.0	96.0					5																	43298225		2203	4300	6503	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43298225G>A		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.460C>T	5.37:g.43298225G>A						HMGCS1_ENST00000433297.2_Silent_p.L154L	p.L154L	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			4	666	-			154					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.460C>T	CCDS34154.1																																																																																				0.403	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			14	54	0	0	0	1	0	14	54				
TACC3	10460	broad.mit.edu	37	4	1730384	1730384	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:1730384G>A	ENST00000313288.4	+	4	1361	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	419					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CATCCCGTTCGGAGGTGACAC	0.627																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1255-1257)Gga>Aga		transforming, acidic coiled-coil containing protein 3							73.0	81.0	78.0					4																	1730384		2203	4299	6502	SO:0001583	missense	10460					centrosome		g.chr4:1730384G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1255G>A	4.37:g.1730384G>A	ENSP00000326550:p.Gly419Arg						p.G419R	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1361	+		Breast(71;0.212)|all_epithelial(65;0.241)	419					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1255G>A	CCDS3352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.654|8.654	0.899024|0.899024	0.17686|0.17686	.|.	.|.	ENSG00000013810|ENSG00000013810	ENST00000313288|ENST00000470136	T|.	0.12672|.	2.66|.	5.4|5.4	3.66|3.66	0.41972|0.41972	.|.	1.696560|.	0.04661|.	N|.	0.408882|.	T|T	0.37758|0.37758	0.1015|0.1015	L|L	0.31065|0.31065	0.9|0.9	0.09310|0.09310	N|N	1|1	P;B|.	0.40032|.	0.699;0.346|.	B;B|.	0.31390|.	0.129;0.03|.	T|T	0.17228|0.17228	-1.0376|-1.0376	10|5	0.44086|.	T|.	0.13|.	.|.	14.3726|14.3726	0.66852|0.66852	0.1356:0.0:0.8644:0.0|0.1356:0.0:0.8644:0.0	.|.	419;419|.	B4DYJ1;Q9Y6A5|.	.;TACC3_HUMAN|.	R|Q	419|85	ENSP00000326550:G419R|.	ENSP00000326550:G419R|.	G|R	+|+	1|2	0|0	TACC3|TACC3	1700182|1700182	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	2.296000|2.296000	0.43584|0.43584	0.272000|0.272000	0.22027|0.22027	-1.094000|-1.094000	0.02160|0.02160	GGA|CGG		0.627	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			20	93	0	0	0	1	0	20	93				
LPA	4018	broad.mit.edu	37	6	160969656	160969656	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:160969656G>A	ENST00000316300.5	-	31	5053	c.5009C>T	c.(5008-5010)gCc>gTc	p.A1670V	LPA_ENST00000447678.1_Missense_Mutation_p.A1670V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4178	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCCTGTATCGGCATCTGGATT	0.522																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5008-5010)gCc>gTc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						70.0	77.0	75.0					6																	160969656		2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160969656G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5009C>T	6.37:g.160969656G>A	ENSP00000321334:p.Ala1670Val					LPA_ENST00000316300.5_Missense_Mutation_p.A1670V	p.A1670V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	32	5129	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4178			Kringle 15.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5009C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	7.719	0.696804	0.15106	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.71	-5.41	0.02648	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	T	0.42630	0.1211	L	0.61387	1.9	0.22050	N	0.9994	P	0.44478	0.836	P	0.47981	0.563	T	0.55509	-0.8130	9	0.87932	D	0	.	8.9812	0.35966	0.0:0.5669:0.1342:0.2989	.	4178	P08519	APOA_HUMAN	V	1670	ENSP00000321334:A1670V;ENSP00000395608:A1670V	ENSP00000321334:A1670V	A	-	2	0	LPA	160889646	0.000000	0.05858	0.037000	0.18230	0.155000	0.21991	-2.906000	0.00701	-2.579000	0.00463	-0.662000	0.03851	GCC		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		19	98	0	0	0	1	0	19	98				
SLC13A5	284111	broad.mit.edu	37	17	6610395	6610395	+	Silent	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:6610395G>C	ENST00000433363.2	-	2	416	c.183C>G	c.(181-183)ctC>ctG	p.L61L	SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000293800.6_Silent_p.L61L|SLC13A5_ENST00000573648.1_Silent_p.L61L	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	61					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGACAGGCATGAGAGAGGTGA	0.527																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(181-183)ctC>ctG		solute carrier family 13 (sodium-dependent citrate transporter), member 5							160.0	138.0	145.0					17																	6610395		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6610395G>C	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.183C>G	17.37:g.6610395G>C						SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.L61L|SLC13A5_ENST00000293800.6_Silent_p.L61L	p.L61L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			2	416	-			61					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.183C>G	CCDS11079.1																																																																																				0.527	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		12	43	0	0	0	1	0	12	43				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	55	0	0	0	1	0	4	55				
PIK3C2B	5287	broad.mit.edu	37	1	204438850	204438850	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:204438850G>A	ENST00000367187.3	-	3	637	c.81C>T	c.(79-81)gcC>gcT	p.A27A	PIK3C2B_ENST00000424712.2_Silent_p.A27A	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	27	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCAGGGCTTCGGCCATCGCTA	0.597																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(79-81)gcC>gcT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							64.0	55.0	58.0					1																	204438850		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438850G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.81C>T	1.37:g.204438850G>A						PIK3C2B_ENST00000424712.2_Silent_p.A27A	p.A27A	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	637	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		27			Interaction with GRB2.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.81C>T	CCDS1446.1																																																																																				0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		14	60	0	0	0	1	0	14	60				
NETO2	81831	broad.mit.edu	37	16	47117201	47117201	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr16:47117201C>T	ENST00000562435.1	-	9	1893	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	NETO2_ENST00000303155.5_Silent_p.E496E	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	503					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CACAGGGAATCTCCTCCATTA	0.428										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(1507-1509)gaG>gaA		neuropilin (NRP) and tolloid (TLL)-like 2							135.0	130.0	132.0					16																	47117201		2203	4300	6503	SO:0001819	synonymous_variant	81831					integral to membrane	receptor activity	g.chr16:47117201C>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1509G>A	16.37:g.47117201C>T		HNSCC(25;0.065)				NETO2_ENST00000303155.5_Silent_p.E496E	p.E503E	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			9	1893	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	503					J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Silent	SNP	ENST00000562435.1	37	c.1509G>A	CCDS10727.1																																																																																				0.428	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		15	120	0	0	0	1	0	15	120				
OR2C3	81472	broad.mit.edu	37	1	247694861	247694861	+	Missense_Mutation	SNP	G	G	A	rs147306837		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:247694861G>A	ENST00000366487.3	-	2	1314	c.953C>T	c.(952-954)gCg>gTg	p.A318V	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A317V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTAAATTTGCGCCAGCTTGCC	0.512																																						ENST00000366487.3																			1	Substitution - Missense(1)	p.A317V(1)	endometrium(1)	breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(952-954)gCg>gTg		olfactory receptor, family 2, subfamily C, member 3							56.0	53.0	54.0					1																	247694861		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694861G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.953C>T	1.37:g.247694861G>A	ENSP00000355443:p.Ala318Val					GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	p.A318V	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1314	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	318					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.953C>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514533	0.27123	.	.	ENSG00000196242	ENST00000366487	T	0.00472	7.19	3.56	-2.08	0.07254	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.06405	0.002	T	0.27571	-1.0070	9	0.16896	T	0.51	.	0.5934	0.00731	0.1689:0.3067:0.1824:0.342	.	318	Q8N628	OR2C3_HUMAN	V	318	ENSP00000355443:A318V	ENSP00000355443:A318V	A	-	2	0	OR2C3	245761484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.285000	0.08410	-0.627000	0.05589	-0.867000	0.03001	GCG		0.512	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		17	67	0	0	0	1	0	17	67				
OR2F2	135948	broad.mit.edu	37	7	143633211	143633211	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:143633211G>C	ENST00000408955.2	+	1	953	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AAGGAATAAAGAGGTGAAGGG	0.433																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(886-888)Gag>Cag		olfactory receptor, family 2, subfamily F, member 2							62.0	62.0	62.0					7																	143633211		2055	4254	6309	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633211G>C		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.886G>C	7.37:g.143633211G>C	ENSP00000386222:p.Glu296Gln						p.E296Q	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	953	+	Melanoma(164;0.0903)		296					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.886G>C	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711078	0.48517	.	.	ENSG00000221910	ENST00000408955	T	0.38240	1.15	3.78	2.86	0.33363	.	0.133844	0.33834	N	0.004503	T	0.36663	0.0975	L	0.33093	0.98	0.29199	N	0.875332	D	0.53462	0.96	P	0.52514	0.701	T	0.24835	-1.0149	10	0.87932	D	0	-14.8506	10.3271	0.43801	0.0:0.0:0.8017:0.1983	.	296	O95006	OR2F2_HUMAN	Q	296	ENSP00000386222:E296Q	ENSP00000386222:E296Q	E	+	1	0	OR2F2	143264144	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.735000	0.68587	0.888000	0.36160	0.491000	0.48974	GAG		0.433	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			18	55	0	0	0	1	0	18	55				
ZFR	51663	broad.mit.edu	37	5	32390475	32390475	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:32390475C>T	ENST00000265069.8	-	12	2150	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	683					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATCTGGCATTCGGCGGCGATC	0.507																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2047-2049)cGa>cAa		zinc finger RNA binding protein							144.0	138.0	140.0					5																	32390475		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390475C>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2048G>A	5.37:g.32390475C>T	ENSP00000265069:p.Arg683Gln						p.R683Q	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2150	-			683					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2048G>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440147	0.83993	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05925	3.37	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	L	0.45051	1.395	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.07635	-1.0762	10	0.19147	T	0.46	.	19.2198	0.93791	0.0:1.0:0.0:0.0	.	683	Q96KR1	ZFR_HUMAN	Q	683;661	ENSP00000265069:R683Q	ENSP00000265069:R683Q	R	-	2	0	ZFR	32426232	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.248000	0.78268	2.550000	0.86006	0.561000	0.74099	CGA		0.507	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			27	73	0	0	0	1	0	27	73				
XDH	7498	broad.mit.edu	37	2	31621561	31621561	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:31621561C>G	ENST00000379416.3	-	5	359	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	104					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TTTGGCAATTCTCTCCTAAAA	0.557																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(310-312)aGa>aCa		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						90.0	97.0	94.0					2																	31621561		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31621561C>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.311G>C	2.37:g.31621561C>G	ENSP00000368727:p.Arg104Thr						p.R104T	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			5	359	-	Acute lymphoblastic leukemia(172;0.155)		104					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.311G>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101601	0.76983	.	.	ENSG00000158125	ENST00000379416	T	0.62941	-0.01	6.16	6.16	0.99307	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81512	-0.0899	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	104	P47989	XDH_HUMAN	T	104	ENSP00000368727:R104T	ENSP00000368727:R104T	R	-	2	0	XDH	31475065	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.572000	0.60886	2.937000	0.99478	0.650000	0.86243	AGA		0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		29	117	0	0	0	1	0	29	117				
MED16	10025	broad.mit.edu	37	19	879973	879973	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:879973C>T	ENST00000589119.1	-	7	1316	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	MED16_ENST00000312090.6_Silent_p.T439T|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.T439T|MED16_ENST00000395808.3_Silent_p.T439T|MED16_ENST00000325464.1_Silent_p.T439T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	439					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCAGTGACGTCCACGATA	0.692																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1315-1317)acG>acA		mediator complex subunit 16							15.0	14.0	14.0					19																	879973		2171	4266	6437	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:879973C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1317G>A	19.37:g.879973C>T						MED16_ENST00000589119.1_Silent_p.T439T|MED16_ENST00000395808.3_Silent_p.T439T|MED16_ENST00000325464.1_Silent_p.T439T|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.T439T	p.T439T			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1467	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	439					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1317G>A	CCDS12047.1																																																																																				0.692	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		5	11	0	0	0	1	0	5	11				
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:10610576G>A	ENST00000171111.5	-	2	681	c.134C>T	c.(133-135)tCc>tTc	p.S45F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S45F|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCCATGCTGGGAGGGCGTCAC	0.637																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(133-135)tCc>tTc		kelch-like ECH-associated protein 1							132.0	105.0	114.0					19																	10610576		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610576G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.134C>T	19.37:g.10610576G>A	ENSP00000171111:p.Ser45Phe					KEAP1_ENST00000393623.2_Missense_Mutation_p.S45F	p.S45F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	681	-			45					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.134C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501133	0.85176	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71817	-0.6;-0.6	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	N	0.19112	0.55	0.54753	D	0.999984	D	0.76494	0.999	D	0.85130	0.997	T	0.78494	-0.2182	10	0.66056	D	0.02	.	15.778	0.78240	0.0:0.0:1.0:0.0	.	45	Q14145	KEAP1_HUMAN	F	45	ENSP00000171111:S45F;ENSP00000377245:S45F	ENSP00000171111:S45F	S	-	2	0	KEAP1	10471576	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.091000	0.71406	2.335000	0.79485	0.462000	0.41574	TCC		0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		7	112	0	0	0	1	0	7	112				
NXF4	55999	broad.mit.edu	37	X	101821949	101821949	+	RNA	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:101821949C>T	ENST00000360035.2	+	0	1702					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						TGCATCCAAACGGTGAGCACC	0.498																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														55999							g.chrX:101821949C>T	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101821949C>T								NR_002216.1						0	1702	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.498	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			9	23	0	0	0	1	0	9	23				
ACVR2B	93	broad.mit.edu	37	3	38524631	38524631	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:38524631C>T	ENST00000352511.4	+	11	1819	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTGCTTAGGGCCTGGCCCAGC	0.557																																						ENST00000352511.3																			0				lung(1)	1						c.(1345-1347)ggC>ggT		activin A receptor, type IIB							201.0	186.0	191.0					3																	38524631		2203	4300	6503	SO:0001819	synonymous_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38524631C>T	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1347C>T	3.37:g.38524631C>T							p.G449G	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	11	1819	+	Medulloblastoma(35;0.163)		449			Protein kinase.		Q4VAV0	Silent	SNP	ENST00000352511.4	37	c.1347C>T	CCDS2679.1																																																																																				0.557	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		5	187	0	0	0	1	0	5	187				
FETUB	26998	broad.mit.edu	37	3	186364068	186364068	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:186364068A>G	ENST00000265029.3	+	5	727	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	FETUB_ENST00000382134.3_Missense_Mutation_p.Y144C|FETUB_ENST00000539949.1_Missense_Mutation_p.Y61C|FETUB_ENST00000450521.1_Missense_Mutation_p.Y209C|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.Y172C|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	209	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TTTGTGGAATACTTAATTAAA	0.423																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(625-627)tAc>tGc		fetuin B							145.0	152.0	150.0					3																	186364068		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186364068A>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.626A>G	3.37:g.186364068A>G	ENSP00000265029:p.Tyr209Cys					FETUB_ENST00000382134.3_Missense_Mutation_p.Y144C|FETUB_ENST00000382136.3_Missense_Mutation_p.Y172C|FETUB_ENST00000539949.1_Missense_Mutation_p.Y61C|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.Y209C	p.Y209C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	5	727	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		209			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.626A>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312461	0.60414	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	4.97	4.97	0.65823	Proteinase inhibitor I25, cystatin (2);	0.000000	0.52532	D	0.000077	T	0.37461	0.1004	M	0.81239	2.535	0.44562	D	0.997523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.987;0.995;0.994	T	0.21999	-1.0229	10	0.87932	D	0	-26.7466	11.2343	0.48931	1.0:0.0:0.0:0.0	.	172;144;209	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	C	209;61;61;209;144;172	ENSP00000404288:Y209C;ENSP00000396581:Y61C;ENSP00000443704:Y61C;ENSP00000265029:Y209C;ENSP00000371569:Y144C;ENSP00000371571:Y172C	ENSP00000265029:Y209C	Y	+	2	0	FETUB	187846762	0.998000	0.40836	0.972000	0.41901	0.831000	0.47069	1.321000	0.33678	2.228000	0.72767	0.533000	0.62120	TAC		0.423	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		38	169	0	0	0	1	0	38	169				
TRMT2B	79979	broad.mit.edu	37	X	100274273	100274273	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:100274273G>A	ENST00000372936.3	-	12	2060	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	TRMT2B_ENST00000372935.1_Splice_Site_p.H430Y|TRMT2B_ENST00000372939.1_Splice_Site_p.H385Y|TRMT2B_ENST00000338687.7_Splice_Site_p.H385Y|TRMT2B_ENST00000372931.5_Splice_Site_p.H430Y|TRMT2B_ENST00000545398.1_Splice_Site_p.H430Y	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	430						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATCCTTACGCAGTCCGGCA	0.498																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e11+1		tRNA methyltransferase 2 homolog B (S. cerevisiae)							114.0	87.0	97.0					X																	100274273		2203	4300	6503	SO:0001630	splice_region_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100274273G>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1288+1C>T	X.37:g.100274273G>A						TRMT2B_ENST00000372936.3_Splice_Site_p.H430_splice|TRMT2B_ENST00000372939.1_Splice_Site_p.H385_splice|TRMT2B_ENST00000372935.1_Splice_Site_p.H430_splice|TRMT2B_ENST00000545398.1_Splice_Site_p.H430_splice|TRMT2B_ENST00000372931.5_Splice_Site_p.H430_splice	p.H385_splice			Q96GJ1	TRM2_HUMAN			11	1958	-			430					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Splice_Site	SNP	ENST00000372936.3	37	c.1153_splice	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805544	0.31961	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.06	-2.86	0.05717	.	0.426594	0.26272	N	0.025335	T	0.18299	0.0439	M	0.78344	2.41	0.80722	D	1	B;B;B	0.34181	0.017;0.376;0.44	B;B;B	0.30572	0.01;0.117;0.082	T	0.02721	-1.1119	9	.	.	.	-14.9835	6.565	0.22507	0.4722:0.0:0.4124:0.1154	.	385;430;430	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	Y	385;430;385;430;430;430	ENSP00000340970:H385Y;ENSP00000438134:H430Y;ENSP00000362030:H385Y;ENSP00000362026:H430Y;ENSP00000362027:H430Y;ENSP00000362022:H430Y	.	H	-	1	0	TRMT2B	100160929	0.458000	0.25760	0.003000	0.11579	0.805000	0.45488	-0.052000	0.11865	-0.696000	0.05098	0.600000	0.82982	CAT		0.498	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917	Missense_Mutation	10	82	0	0	0	1	0	10	82				
CLN6	54982	broad.mit.edu	37	15	68506654	68506654	+	Missense_Mutation	SNP	C	C	T	rs140519790	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:68506654C>T	ENST00000249806.5	-	3	428	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	CLN6_ENST00000564752.1_Missense_Mutation_p.V91I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000418702.2_Silent_p.T56T|CLN6_ENST00000566347.1_Missense_Mutation_p.V91I|CLN6_ENST00000538696.1_Missense_Mutation_p.V123I	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	91					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGTGATGACGTTGTAGGCC	0.547													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16395	0.0		0.0	False		,,,				2504	0.001					ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(271-273)Gtc>Atc		ceroid-lipofuscinosis, neuronal 6, late infantile, variant			ILE/VAL	2,4398	4.2+/-10.8	0,2,2198	234.0	170.0	192.0		271	-2.2	1.0	15	dbSNP_134	192	0,8596		0,0,4298	no	missense	CLN6	NM_017882.2	29	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	benign	91/312	68506654	2,12994	2200	4298	6498	SO:0001583	missense	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68506654C>T	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.271G>A	15.37:g.68506654C>T	ENSP00000249806:p.Val91Ile					CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Silent_p.T56T|CLN6_ENST00000538696.1_Missense_Mutation_p.V123I|CLN6_ENST00000564752.1_Missense_Mutation_p.V91I|CLN6_ENST00000566347.1_Missense_Mutation_p.V91I	p.V91I	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			3	428	-			91					A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	37	c.271G>A	CCDS10227.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.09	2.134011	0.37630	4.55E-4	0.0	ENSG00000128973	ENST00000249806;ENST00000538696	D;D	0.93763	-3.28;-3.28	5.36	-2.19	0.07015	.	0.278878	0.34628	N	0.003812	T	0.82208	0.4987	L	0.28192	0.835	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.001	T	0.66540	-0.5898	10	0.07175	T	0.84	-24.5134	6.4116	0.21694	0.0:0.3343:0.1296:0.536	.	123;91	B4DDH6;Q9NWW5	.;CLN6_HUMAN	I	91;123	ENSP00000249806:V91I;ENSP00000445770:V123I	ENSP00000249806:V91I	V	-	1	0	CLN6	66293708	0.006000	0.16342	0.994000	0.49952	0.990000	0.78478	-0.117000	0.10708	-0.042000	0.13535	0.457000	0.33378	GTC		0.547	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		12	42	0	0	0	1	0	12	42				
UBQLN2	29978	broad.mit.edu	37	X	56590909	56590909	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:56590909G>T	ENST00000338222.5	+	1	884	c.603G>T	c.(601-603)atG>atT	p.M201I		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	201					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CCGATCTGATGAGGCAGCTCA	0.468																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(601-603)atG>atT		ubiquilin 2							74.0	71.0	72.0					X																	56590909		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590909G>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.603G>T	X.37:g.56590909G>T	ENSP00000345195:p.Met201Ile						p.M201I	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	884	+			201					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.603G>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352760	0.24512	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80566	-1.39	4.63	3.76	0.43208	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	L	0.48642	1.525	0.58432	D	0.999997	B;B	0.29378	0.201;0.243	B;B	0.36335	0.222;0.119	T	0.68492	-0.5394	10	0.27082	T	0.32	-9.4664	9.9948	0.41893	0.1021:0.0:0.8979:0.0	.	201;201	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	I	201	ENSP00000345195:M201I	ENSP00000345195:M201I	M	+	3	0	UBQLN2	56607634	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.595000	0.98260	1.091000	0.41335	-0.208000	0.12717	ATG		0.468	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		12	81	1	0	7.03913e-09	1	7.41791e-09	12	81				
METTL2B	55798	broad.mit.edu	37	7	128119373	128119373	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:128119373G>A	ENST00000262432.8	+	3	401	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	METTL2B_ENST00000480046.1_Missense_Mutation_p.E57K|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	122					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAACAAGAGTGAAGTATGTGA	0.398																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(169-171)Gaa>Aaa		methyltransferase like 2B							95.0	93.0	94.0					7																	128119373		2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119373G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.364G>A	7.37:g.128119373G>A	ENSP00000262432:p.Glu122Lys					METTL2B_ENST00000262432.8_Missense_Mutation_p.E122K	p.E57K			Q6P1Q9	MTL2B_HUMAN			2	284	+			122					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.169G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	3.950	-0.012454	0.07727	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;D;T	0.82344	2.24;-1.6;2.77	2.65	1.75	0.24633	.	0.642616	0.17814	N	0.161098	T	0.65954	0.2741	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.003	T	0.45731	-0.9241	10	0.09084	T	0.74	0.024	7.5376	0.27719	0.1394:0.0:0.8606:0.0	.	57;122	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	K	116;122;57	ENSP00000418634:E116K;ENSP00000262432:E122K;ENSP00000418402:E57K	ENSP00000262432:E122K	E	+	1	0	METTL2B	127906609	0.973000	0.33851	0.004000	0.12327	0.010000	0.07245	3.516000	0.53436	0.446000	0.26666	0.405000	0.27470	GAA		0.398	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		14	83	0	0	0	1	0	14	83				
IGHV3-11	28450	broad.mit.edu	37	14	106573465	106573465	+	RNA	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr14:106573465G>A	ENST00000390601.2	-	0	238									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		GGCTGCACAGGAGAGTCTCAG	0.557																																						ENST00000390601.2																			0																				111.0	99.0	103.0					14																	106573465		1854	4099	5953			28450							g.chr14:106573465G>A	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573465G>A														0	238	-									RNA	SNP	ENST00000390601.2	37																																																																																						0.557	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		45	204	0	0	0	1	0	45	204				
SLC9B2	133308	broad.mit.edu	37	4	103988644	103988644	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:103988644T>C	ENST00000394785.3	-	2	695	c.64A>G	c.(64-66)Acg>Gcg	p.T22A	SLC9B2_ENST00000503230.1_Missense_Mutation_p.T22A|SLC9B2_ENST00000362026.3_Missense_Mutation_p.T22A|SLC9B2_ENST00000503103.1_Missense_Mutation_p.T22A|SLC9B2_ENST00000339611.4_Missense_Mutation_p.T22A|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	22					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										ATGGAGGGCGTGTAATTCATT	0.368																																						ENST00000394785.3																			0											c.(64-66)Acg>Gcg		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							286.0	241.0	256.0					4																	103988644		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103988644T>C	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.64A>G	4.37:g.103988644T>C	ENSP00000378265:p.Thr22Ala					SLC9B2_ENST00000503103.1_Missense_Mutation_p.T22A|SLC9B2_ENST00000362026.3_Missense_Mutation_p.T22A|SLC9B2_ENST00000503230.1_Missense_Mutation_p.T22A|SLC9B2_ENST00000339611.4_Missense_Mutation_p.T22A|SLC9B2_ENST00000505838.1_5'UTR	p.T22A	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			2	695	-			22					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.64A>G	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	T	7.122	0.578083	0.13686	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.22336	2.01;1.99;2.01;1.96;2.0	3.67	-1.38	0.09027	.	0.913471	0.09195	N	0.835493	T	0.11239	0.0274	L	0.31065	0.9	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39165	-0.9627	10	0.15499	T	0.54	-0.2475	3.1027	0.06331	0.209:0.4051:0.0:0.3859	.	22;22;22	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	A	22	ENSP00000354574:T22A;ENSP00000345241:T22A;ENSP00000378265:T22A;ENSP00000425385:T22A;ENSP00000422477:T22A	ENSP00000345241:T22A	T	-	1	0	SLC9B2	104208093	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.043000	0.12043	-0.221000	0.09973	0.533000	0.62120	ACG		0.368	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		16	85	0	0	0	1	0	16	85				
FMN2	56776	broad.mit.edu	37	1	240371619	240371619	+	Silent	SNP	C	C	T	rs374929692		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:240371619C>T	ENST00000319653.9	+	5	3737	c.3507C>T	c.(3505-3507)ccC>ccT	p.P1169P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1169	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGCGGGCA	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3505-3507)ccC>ccT		formin 2		C		4,4226		0,4,2111	6.0	7.0	7.0		3507	-5.7	0.0	1		7	6,8356		0,6,4175	no	coding-synonymous	FMN2	NM_020066.4		0,10,6286	TT,TC,CC		0.0718,0.0946,0.0794		1169/1723	240371619	10,12582	2115	4181	6296	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371619C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3507C>T	1.37:g.240371619C>T							p.P1169P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3737	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1169			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3507C>T	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	13	0	0	0	1	0	3	13				
PAH	5053	broad.mit.edu	37	12	103234269	103234269	+	Silent	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:103234269C>A	ENST00000553106.1	-	12	1696	c.1224G>T	c.(1222-1224)cgG>cgT	p.R408R	PAH_ENST00000307000.2_Silent_p.R403R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	408			R -> Q (in PKU; haplotypes 4,12). {ECO:0000269|PubMed:1355066}.|R -> W (in HPA and PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery; dbSNP:rs5030858). {ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:1355066, ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:23792259, ECO:0000269|PubMed:8889590, ECO:0000269|PubMed:9452062, ECO:0000269|PubMed:9600453}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTGAGAAGGGCCGAGGTATTG	0.458																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(1222-1224)cgG>cgT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						156.0	140.0	145.0					12																	103234269		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103234269C>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1224G>T	12.37:g.103234269C>A						PAH_ENST00000307000.2_Silent_p.R403R	p.R408R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			12	1696	-			408		R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.1224G>T	CCDS9092.1																																																																																				0.458	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			16	68	1	0	1.52009e-12	1	1.64618e-12	16	68				
TP53	7157	broad.mit.edu	37	17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:7579369G>C	ENST00000269305.4	-	4	507	c.318C>G	c.(316-318)agC>agG	p.S106R	TP53_ENST00000445888.2_Missense_Mutation_p.S106R|TP53_ENST00000420246.2_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R|TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S106R	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	106	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	GGAAACCGTAGCTGCCCTGGT	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		27	Deletion - Frameshift(12)|Whole gene deletion(8)|Substitution - Missense(3)|Complex - deletion inframe(2)|Deletion - In frame(2)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|ovary(3)|breast(3)|central_nervous_system(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(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	GRCh37	CM013441	TP53	M		c.(316-318)agC>agG	Other conserved DNA damage response genes	tumor protein p53							58.0	57.0	57.0					17																	7579369		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579369G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.318C>G	17.37:g.7579369G>C	ENSP00000269305:p.Ser106Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R|TP53_ENST00000359597.4_Missense_Mutation_p.S106R|TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000445888.2_Missense_Mutation_p.S106R	p.S106R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	450	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	106		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.318C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219579	0.22373	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.75	2.77	0.32553	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	1.175280	0.05775	N	0.607434	D	0.99133	0.9701	L	0.38175	1.15	0.28839	N	0.896688	B;P;B;B;B;B;B	0.34615	0.305;0.459;0.042;0.005;0.086;0.029;0.313	B;B;B;B;B;B;B	0.43103	0.107;0.408;0.117;0.007;0.186;0.186;0.061	D	0.99992	1.4503	10	0.40728	T	0.16	-0.4975	9.0942	0.36629	0.1857:0.0:0.8143:0.0	.	67;106;106;106;106;106;106	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	106	ENSP00000410739:S106R;ENSP00000352610:S106R;ENSP00000269305:S106R;ENSP00000398846:S106R;ENSP00000391127:S106R;ENSP00000391478:S106R;ENSP00000424104:S106R;ENSP00000426252:S106R	ENSP00000269305:S106R	S	-	3	2	TP53	7520094	0.247000	0.23920	0.636000	0.29352	0.532000	0.34746	0.437000	0.21543	1.364000	0.46038	0.655000	0.94253	AGC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	80	0	0	0	1	0	19	80				
CGN	57530	broad.mit.edu	37	1	151491225	151491225	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:151491225C>G	ENST00000271636.7	+	2	363	c.230C>G	c.(229-231)tCc>tGc	p.S77C		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	71	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGGTGACTCCTTTGGGGTC	0.577																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(229-231)tCc>tGc		cingulin							61.0	66.0	64.0					1																	151491225		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491225C>G	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.230C>G	1.37:g.151491225C>G	ENSP00000271636:p.Ser77Cys						p.S77C	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	363	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		71			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.230C>G	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633883	0.87660	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.78595	-0.08;-1.19	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85603	0.1253	10	0.87932	D	0	-12.3981	17.5427	0.87852	0.0:1.0:0.0:0.0	.	71	Q9P2M7	CING_HUMAN	C	77	ENSP00000410836:S77C;ENSP00000271636:S77C	ENSP00000271636:S77C	S	+	2	0	CGN	149757849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.412000	0.66392	2.808000	0.96608	0.655000	0.94253	TCC		0.577	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		9	52	0	0	0	1	0	9	52				
COL6A3	1293	broad.mit.edu	37	2	238245116	238245116	+	Missense_Mutation	SNP	G	G	A	rs367635298		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:238245116G>A	ENST00000295550.4	-	40	9079	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2876	Nonhelical region.|Thr-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTAGTCACCGGCTTCGTTGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.001					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8626-8628)cCg>cTg		collagen, type VI, alpha 3		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	170.0	158.0	162.0		8627,6806,8009	4.1	0.1	2		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2876/3178,2269/2571,2670/2972	238245116	1,13005	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238245116G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8627C>T	2.37:g.238245116G>A	ENSP00000295550:p.Pro2876Leu					COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L	p.P2876L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9079	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2876			Nonhelical region.|Thr-rich.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8627C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	4.155	0.027127	0.08054	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90563	-2.69;-2.65;-2.65;-2.64;-2.65;-2.62	4.05	4.05	0.47172	.	0.145674	0.31797	N	0.007057	D	0.84469	0.5479	L	0.48877	1.53	0.19575	N	0.999962	P;P;P	0.39404	0.672;0.655;0.524	B;B;B	0.28784	0.043;0.094;0.043	T	0.80460	-0.1373	10	0.72032	D	0.01	.	12.0817	0.53675	0.0:0.0:1.0:0.0	.	2269;2670;2876	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	2876;2675;2670;2269;2670;2676	ENSP00000295550:P2876L;ENSP00000315609:P2675L;ENSP00000315873:P2670L;ENSP00000418285:P2269L;ENSP00000386844:P2670L;ENSP00000295546:P2676L	ENSP00000295550:P2876L	P	-	2	0	COL6A3	237909855	0.051000	0.20477	0.056000	0.19401	0.093000	0.18481	2.136000	0.42121	1.952000	0.56665	0.563000	0.77884	CCG		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		58	143	0	0	0	1	0	58	143				
LRRC8C	84230	broad.mit.edu	37	1	90179377	90179377	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:90179377G>C	ENST00000370454.4	+	3	1503	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	416					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTGAGGCAGAAGCTACAGA	0.403																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1246-1248)caG>caC		leucine rich repeat containing 8 family, member C							84.0	78.0	80.0					1																	90179377		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179377G>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1248G>C	1.37:g.90179377G>C	ENSP00000359483:p.Gln416His					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.Q416H	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1503	+		all_lung(203;0.126)	416					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.1248G>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131694	0.37630	.	.	ENSG00000171488	ENST00000370454	T	0.20598	2.06	5.77	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	M	0.74467	2.265	0.49389	D	0.999788	D	0.76494	0.999	D	0.64687	0.928	T	0.07849	-1.0751	10	0.66056	D	0.02	.	8.7262	0.34471	0.2831:0.0:0.7169:0.0	.	416	Q8TDW0	LRC8C_HUMAN	H	416	ENSP00000359483:Q416H	ENSP00000359483:Q416H	Q	+	3	2	LRRC8C	89951965	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.020000	0.49643	0.801000	0.34066	-0.142000	0.14014	CAG		0.403	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		11	83	0	0	0	1	0	11	83				
SIMC1	375484	broad.mit.edu	37	5	175763877	175763877	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:175763877C>G	ENST00000443967.1	+	10	2676	c.2269C>G	c.(2269-2271)Cag>Gag	p.Q757E	SIMC1_ENST00000341199.6_Missense_Mutation_p.Q342E|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q218E|SIMC1_ENST00000430704.2_Missense_Mutation_p.Q342E			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	757							SUMO polymer binding (GO:0032184)										GCTCAAGTGTCAGGTACATTT	0.488																																						ENST00000443967.1																			0											c.(2269-2271)Cag>Gag		SUMO-interacting motifs containing 1							53.0	54.0	54.0					5																	175763877		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175763877C>G	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2269C>G	5.37:g.175763877C>G	ENSP00000406571:p.Gln757Glu					SIMC1_ENST00000341199.6_Missense_Mutation_p.Q342E|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q218E|SIMC1_ENST00000430704.2_Missense_Mutation_p.Q342E	p.Q757E							10	2676	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2269C>G		.	.	.	.	.	.	.	.	.	.	C	14.46	2.541486	0.45280	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.86	4.86	0.63082	.	0.398091	0.22521	N	0.058979	T	0.60971	0.2310	L	0.40543	1.245	0.80722	D	1	D;B;D	0.58268	0.982;0.202;0.982	D;B;D	0.70227	0.968;0.188;0.968	T	0.57991	-0.7715	10	0.41790	T	0.15	-12.3077	11.2497	0.49017	0.0:0.8154:0.1846:0.0	.	218;342;757	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	E	342;342;757;218	ENSP00000342075:Q342E;ENSP00000409287:Q342E;ENSP00000406571:Q757E;ENSP00000331311:Q218E	ENSP00000331311:Q218E	Q	+	1	0	C5orf25	175696483	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	2.463000	0.45058	2.529000	0.85273	0.467000	0.42956	CAG		0.488	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		5	43	0	0	0	1	0	5	43				
CNPY2	10330	broad.mit.edu	37	12	56712917	56712917	+	5'Flank	SNP	G	G	A	rs375649878		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:56712917G>A	ENST00000273308.4	-	0	0				PAN2_ENST00000548043.1_Nonsense_Mutation_p.R1111*|PAN2_ENST00000425394.2_Nonsense_Mutation_p.R1111*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.R1110*|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000440411.3_Nonsense_Mutation_p.R1107*	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						ATTCGTTTTCGGGGCATATGG	0.498																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3331-3333)Cga>Tga		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	104.0	95.0	98.0		3331,3328,3319	4.7	1.0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1111/1203,1110/1202,1107/1199	56712917	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712917G>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712917G>A	Exception_encountered					PAN2_ENST00000549090.1_Intron|PAN2_ENST00000548043.1_Nonsense_Mutation_p.R1111*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.R1107*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.R1110*	p.R1111*	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			24	3707	-			1111			Exonuclease.		B2R7B9|Q9UHE9	Nonsense_Mutation	SNP	ENST00000273308.4	37	c.3331C>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	44	10.651991	0.99444	0.0	1.16E-4	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5313	13.5319	0.61627	0.0:0.0:0.7173:0.2827	.	.	.	.	X	1111;1107;1110;1111	.	ENSP00000257931:R1110X	R	-	1	2	PAN2	54999184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.131000	0.50515	1.502000	0.48669	0.655000	0.94253	CGA		0.498	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		29	54	0	0	0	1	0	29	54				
SCLT1	132320	broad.mit.edu	37	4	129924970	129924970	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:129924970C>G	ENST00000281142.5	-	6	855	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	SCLT1_ENST00000434680.1_Missense_Mutation_p.E118Q|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Missense_Mutation_p.E95Q	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	118					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTTCCTACCTCTGTGCCCAGG	0.368																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(352-354)Gag>Cag		sodium channel and clathrin linker 1							148.0	130.0	136.0					4																	129924970		2202	4300	6502	SO:0001583	missense	132320					centrosome		g.chr4:129924970C>G	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.352G>C	4.37:g.129924970C>G	ENSP00000281142:p.Glu118Gln					SCLT1_ENST00000434680.1_Missense_Mutation_p.E118Q|SCLT1_ENST00000503215.1_Missense_Mutation_p.E95Q|SCLT1_ENST00000439369.2_Intron	p.E118Q	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	855	-			118					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.352G>C	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	2.905	-0.226734	0.06022	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.10477	2.87;2.87;2.87	5.34	4.41	0.53225	.	0.831928	0.10718	N	0.642098	T	0.10035	0.0246	L	0.47716	1.5	0.09310	N	1	P;P	0.44241	0.829;0.467	B;B	0.38985	0.287;0.277	T	0.19647	-1.0299	9	.	.	.	-0.7065	5.8042	0.18430	0.1785:0.6555:0.0:0.1659	.	118;118	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	Q	118;118;95	ENSP00000281142:E118Q;ENSP00000401539:E118Q;ENSP00000424029:E95Q	.	E	-	1	0	SCLT1	130144420	0.000000	0.05858	0.989000	0.46669	0.268000	0.26511	0.372000	0.20467	2.520000	0.84964	0.455000	0.32223	GAG		0.368	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		15	89	0	0	0	1	0	15	89				
CACNA1G	8913	broad.mit.edu	37	17	48704104	48704104	+	Missense_Mutation	SNP	G	G	A	rs372838388		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:48704104G>A	ENST00000359106.5	+	38	7126	c.7126G>A	c.(7126-7128)Gac>Aac	p.D2376N	CACNA1G_ENST00000507510.2_Missense_Mutation_p.D2331N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D2342N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D2320N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D2313N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D2226N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D2265N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D2242N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D2238N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D2249N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D2204N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D2286N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D2276N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D2272N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D2290N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D2193N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D2283N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D2260N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D2305N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D2231N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D2170N|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D2258N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D2249N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D2365N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D2297N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2376					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCAGACCTGGACCCCTGAGT	0.572											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6745-6747)Gac>Aac		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						90.0	96.0	94.0					17																	48704104		1965	4143	6108	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48704104G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.7126G>A	17.37:g.48704104G>A	ENSP00000352011:p.Asp2376Asn		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000505165.1_Missense_Mutation_p.D2204N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D2283N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D2290N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D2249N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D2238N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D2242N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D2286N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D2265N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D2272N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D2193N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D2376N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D2170N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D2342N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D2320N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D2231N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D2313N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D2305N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D2297N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D2226N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D2260N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D2276N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D2331N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D2365N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D2258N	p.D2249N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	7117	+	Breast(11;6.7e-17)		2376					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.6745G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822084	0.71028	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97232	-4.2;-4.19;-4.05;-4.19;-4.21;-4.22;-4.3;-4.26;-4.27;-4.29;-4.16;-4.06;-4.23;-4.19;-4.13;-4.23;-4.18;-4.16;-4.23;-4.26;-4.06;-4.22;-4.15;-4.29;-4.28	5.5	4.53	0.55603	.	0.912962	0.09479	N	0.796637	D	0.96873	0.8979	N	0.22421	0.69	0.30665	N	0.753945	D;P;D;D;P;D;D;P;D;B;B;P;P;P;D;P;D;D;P;D;D;P;P;P;D	0.76494	0.998;0.944;0.997;0.998;0.774;0.997;0.997;0.615;0.997;0.008;0.008;0.64;0.859;0.857;0.992;0.647;0.997;0.999;0.474;0.968;0.998;0.616;0.917;0.914;0.98	D;P;D;D;B;D;D;B;D;B;B;P;P;B;D;B;D;D;B;P;D;B;P;B;D	0.83275	0.991;0.772;0.993;0.993;0.345;0.993;0.993;0.434;0.993;0.002;0.002;0.547;0.665;0.427;0.93;0.345;0.993;0.996;0.275;0.772;0.991;0.275;0.601;0.427;0.966	D	0.93034	0.6451	10	0.49607	T	0.09	.	12.3491	0.55139	0.0781:0.0:0.9219:0.0	.	2226;2238;2231;2313;2286;2258;2290;2249;2276;2193;2204;2305;2272;2365;2265;2320;2283;2353;2331;2249;2242;2297;2260;2376;2170	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	N	2260;2249;2342;2242;2305;2272;2238;2226;2231;2249;2331;2365;2286;2276;2297;2283;2258;2320;2290;2170;2376;2265;2313;2204;2193	ENSP00000353990:D2260N;ENSP00000339302:D2249N;ENSP00000347078:D2342N;ENSP00000409759:D2242N;ENSP00000425522:D2305N;ENSP00000426261:D2272N;ENSP00000425451:D2238N;ENSP00000422407:D2226N;ENSP00000426814:D2231N;ENSP00000427238:D2249N;ENSP00000423112:D2331N;ENSP00000420918:D2365N;ENSP00000426172:D2286N;ENSP00000423045:D2276N;ENSP00000427173:D2297N;ENSP00000426098:D2283N;ENSP00000425698:D2258N;ENSP00000426232:D2320N;ENSP00000423317:D2290N;ENSP00000350979:D2170N;ENSP00000352011:D2376N;ENSP00000414388:D2265N;ENSP00000423155:D2313N;ENSP00000422268:D2204N;ENSP00000421518:D2193N	ENSP00000339302:D2249N	D	+	1	0	CACNA1G	46059103	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.295000	0.72744	1.320000	0.45209	0.561000	0.74099	GAC		0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		29	87	0	0	0	1	0	29	87				
ZNF157	7712	broad.mit.edu	37	X	47272087	47272087	+	Silent	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chrX:47272087C>T	ENST00000377073.3	+	4	701	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	205					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GATCATACCTCATTGCTCATC	0.428																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(613-615)ctC>ctT		zinc finger protein 157							69.0	62.0	64.0					X																	47272087		2203	4300	6503	SO:0001819	synonymous_variant	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272087C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.615C>T	X.37:g.47272087C>T							p.L205L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	701	+			205					Q96LE9	Silent	SNP	ENST00000377073.3	37	c.615C>T	CCDS14278.1																																																																																				0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		4	37	0	0	0	1	0	4	37				
DUSP8	1850	broad.mit.edu	37	11	1586850	1586850	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:1586850G>A	ENST00000397374.3	-	2	334	c.207C>T	c.(205-207)ctC>ctT	p.L69L	DUSP8_ENST00000331588.4_Silent_p.L69L	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	69	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCGGCTGGATGAGCTCCGCAA	0.642																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(205-207)ctC>ctT		dual specificity phosphatase 8							35.0	29.0	31.0					11																	1586850		2199	4292	6491	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1586850G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.207C>T	11.37:g.1586850G>A						DUSP8_ENST00000331588.4_Silent_p.L69L	p.L69L	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	2	334	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	69			Rhodanese.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.207C>T	CCDS7724.1																																																																																				0.642	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		4	24	0	0	0	1	0	4	24				
BCO2	83875	broad.mit.edu	37	11	112064603	112064603	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr11:112064603C>A	ENST00000357685.5	+	4	654	c.519C>A	c.(517-519)gcC>gcA	p.A173A	AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000393032.2_Splice_Site_p.A139A|BCO2_ENST00000532593.1_Splice_Site_p.A68A|BCO2_ENST00000531169.1_Splice_Site_p.A139A|BCO2_ENST00000438022.1_Splice_Site_p.A139A|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000526088.1_Splice_Site_p.A139A			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	173					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TGGTTTCAGCCATGACTGACA	0.423																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.e4-1		beta-carotene oxygenase 2							116.0	102.0	107.0					11																	112064603		2201	4297	6498	SO:0001630	splice_region_variant	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112064603C>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.518-1C>A	11.37:g.112064603C>A						BCO2_ENST00000531169.1_Splice_Site_p.A139_splice|BCO2_ENST00000393032.2_Splice_Site_p.A139_splice|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000438022.1_Splice_Site_p.A139_splice|BCO2_ENST00000526088.1_Splice_Site_p.A139_splice|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000532593.1_Splice_Site_p.A68_splice	p.A173_splice			Q9BYV7	BCDO2_HUMAN			4	654	+			173					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Splice_Site	SNP	ENST00000357685.5	37	c.517_splice	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892569	0.33442	.	.	ENSG00000197580	ENST00000530677	.	.	.	5.29	-1.53	0.08611	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31308	-0.9948	4	.	.	.	.	3.1232	0.06398	0.1262:0.5103:0.1404:0.2232	.	.	.	.	N	72	.	.	H	+	1	0	BCO2	111569813	0.000000	0.05858	0.894000	0.35097	0.975000	0.68041	-0.655000	0.05348	0.098000	0.17522	0.655000	0.94253	CAT		0.423	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290	Silent	19	68	1	0	3.32936e-07	1	3.46194e-07	19	68				
FILIP1	27145	broad.mit.edu	37	6	76022129	76022129	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:76022129C>T	ENST00000237172.7	-	5	3749	c.3419G>A	c.(3418-3420)cGa>cAa	p.R1140Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.R1041Q|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1140Q|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1140										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTGGGTTCCTCGAGCAGATGA	0.562																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3418-3420)cGa>cAa		filamin A interacting protein 1							151.0	136.0	141.0					6																	76022129		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022129C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3419G>A	6.37:g.76022129C>T	ENSP00000237172:p.Arg1140Gln					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1140Q|FILIP1_ENST00000370020.1_Missense_Mutation_p.R1041Q	p.R1140Q			Q7Z7B0	FLIP1_HUMAN			5	3640	-			1140					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3419G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721685	0.89298	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.27104	1.7;1.69;1.69	5.76	5.76	0.90799	.	0.055075	0.64402	D	0.000001	T	0.35335	0.0928	L	0.52759	1.655	0.52501	D	0.999959	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.57911	0.829;0.75;0.822	T	0.06807	-1.0806	10	0.87932	D	0	-12.8099	19.9705	0.97284	0.0:1.0:0.0:0.0	.	1140;1140;1140	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	1140;1140;1041	ENSP00000376728:R1140Q;ENSP00000237172:R1140Q;ENSP00000359037:R1041Q	ENSP00000237172:R1140Q	R	-	2	0	FILIP1	76078849	1.000000	0.71417	0.943000	0.38184	0.890000	0.51754	5.776000	0.68924	2.728000	0.93425	0.655000	0.94253	CGA		0.562	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		31	153	0	0	0	1	0	31	153				
KPNA4	3840	broad.mit.edu	37	3	160231914	160231914	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:160231914G>A	ENST00000334256.4	-	13	1393	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V	SCARNA7_ENST00000458797.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	363	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATCAATTACTGCCTGTACCTG	0.363																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(1087-1089)gCa>gTa		karyopherin alpha 4 (importin alpha 3)							129.0	113.0	118.0					3																	160231914		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160231914G>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1088C>T	3.37:g.160231914G>A	ENSP00000334373:p.Ala363Val						p.A363V	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		13	1393	-			363			NLS binding site (minor) (By similarity).		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.1088C>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378497	0.95945	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.71817	-0.6;1.53	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	L	0.60904	1.88	0.80722	D	1	D	0.53462	0.96	P	0.54431	0.752	T	0.80799	-0.1221	10	0.72032	D	0.01	-3.0516	19.249	0.93914	0.0:0.0:1.0:0.0	.	363	O00629	IMA4_HUMAN	V	363;68	ENSP00000334373:A363V;ENSP00000417172:A68V	ENSP00000334373:A363V	A	-	2	0	KPNA4	161714608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.555000	0.86185	0.655000	0.94253	GCA		0.363	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		16	62	0	0	0	1	0	16	62				
WDR76	79968	broad.mit.edu	37	15	44134857	44134857	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:44134857C>G	ENST00000263795.6	+	7	936	c.866C>G	c.(865-867)tCt>tGt	p.S289C	WDR76_ENST00000381246.2_Missense_Mutation_p.S225C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	289										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAGGGATTATCTAGCATTAAA	0.284											OREG0003949	type=REGULATORY REGION|Gene=AK124169|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(865-867)tCt>tGt		WD repeat domain 76							63.0	66.0	65.0					15																	44134857		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44134857C>G	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.866C>G	15.37:g.44134857C>G	ENSP00000263795:p.Ser289Cys		OREG0003949	type=REGULATORY REGION|Gene=AK124169|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	921	WDR76_ENST00000381246.2_Missense_Mutation_p.S225C	p.S289C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	7	936	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	289					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.866C>G	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465706	0.43839	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	D;D;T	0.83673	-1.75;-1.72;0.5	5.08	4.17	0.49024	.	0.902436	0.09691	N	0.768376	D	0.84065	0.5390	M	0.74881	2.28	0.24821	N	0.99258	D	0.61697	0.99	P	0.46049	0.502	T	0.73733	-0.3890	10	0.49607	T	0.09	-16.3961	9.6277	0.39761	0.0:0.9049:0.0:0.0951	.	289	Q9H967	WDR76_HUMAN	C	289;225;225	ENSP00000263795:S289C;ENSP00000370645:S225C;ENSP00000404665:S225C	ENSP00000263795:S289C	S	+	2	0	WDR76	41922149	0.001000	0.12720	0.575000	0.28536	0.685000	0.39939	0.348000	0.20031	1.367000	0.46095	0.467000	0.42956	TCT		0.284	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		19	71	0	0	0	1	0	19	71				
TIPARP	25976	broad.mit.edu	37	3	156411951	156411951	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:156411951C>T	ENST00000461166.1	+	3	1648	c.1060C>T	c.(1060-1062)Cac>Tac	p.H354Y	TIPARP_ENST00000295924.7_Missense_Mutation_p.H354Y|TIPARP_ENST00000486483.1_Missense_Mutation_p.H354Y|TIPARP_ENST00000542783.1_Missense_Mutation_p.H354Y	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	354	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGTAGGGACCACTTTGGATG	0.373																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1060-1062)Cac>Tac		TCDD-inducible poly(ADP-ribose) polymerase							149.0	147.0	148.0					3																	156411951		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411951C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1060C>T	3.37:g.156411951C>T	ENSP00000420612:p.His354Tyr					TIPARP_ENST00000295924.7_Missense_Mutation_p.H354Y|TIPARP_ENST00000486483.1_Missense_Mutation_p.H354Y|TIPARP_ENST00000542783.1_Missense_Mutation_p.H354Y	p.H354Y	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1648	+			354			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1060C>T	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.56|16.56	3.157577|3.157577	0.57368|0.57368	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.24151|.	2.89;2.89;2.89;1.87;2.89;2.89|.	5.04|5.04	5.04|5.04	0.67666|0.67666	WWE domain (1);|.	0.119241|.	0.53938|.	D|.	0.000056|.	T|T	0.66117|0.66117	0.2757|0.2757	L|L	0.40543|0.40543	1.245|1.245	0.53005|0.53005	D|D	0.999964|0.999964	P|.	0.41450|.	0.75|.	B|.	0.31390|.	0.129|.	T|T	0.62120|0.62120	-0.6921|-0.6921	10|5	0.66056|.	D|.	0.02|.	.|.	18.3718|18.3718	0.90409|0.90409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	354|.	Q7Z3E1|.	PARPT_HUMAN|.	Y|L	354|56	ENSP00000418757:H354Y;ENSP00000295924:H354Y;ENSP00000420612:H354Y;ENSP00000419982:H354Y;ENSP00000418829:H354Y;ENSP00000438345:H354Y|.	ENSP00000295924:H354Y|.	H|P	+|+	1|2	0|0	TIPARP|TIPARP	157894645|157894645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.708000|5.708000	0.68377|0.68377	2.525000|2.525000	0.85131|0.85131	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.373	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		16	207	0	0	0	1	0	16	207				
MTBP	27085	broad.mit.edu	37	8	121502758	121502758	+	Silent	SNP	G	G	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr8:121502758G>A	ENST00000305949.1	+	13	1440	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	465					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATTGTACAGAGAGAGAAAC	0.328																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1393-1395)caG>caA		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							139.0	137.0	138.0					8																	121502758		2203	4300	6503	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121502758G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1395G>A	8.37:g.121502758G>A							p.Q465Q	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		13	1440	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		465					B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.1395G>A	CCDS6333.1																																																																																				0.328	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		7	70	0	0	0	1	0	7	70				
ATR	545	broad.mit.edu	37	3	142285059	142285059	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:142285059C>T	ENST00000350721.4	-	3	317	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	ATR_ENST00000383101.3_Missense_Mutation_p.V66M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	66					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCAACATCACGGAGGTTGGC	0.373								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(196-198)Gtg>Atg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							94.0	89.0	91.0					3																	142285059		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142285059C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.196G>A	3.37:g.142285059C>T	ENSP00000343741:p.Val66Met					ATR_ENST00000383101.3_Missense_Mutation_p.V66M	p.V66M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			3	317	-			66					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.196G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156833	0.78114	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.44083	0.93;0.93	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.64461	0.2600	M	0.63428	1.95	0.39458	D	0.967525	D	0.89917	1.0	D	0.85130	0.997	T	0.67356	-0.5691	10	0.72032	D	0.01	-14.7722	19.0583	0.93076	0.0:1.0:0.0:0.0	.	66	Q13535	ATR_HUMAN	M	66	ENSP00000343741:V66M;ENSP00000372581:V66M	ENSP00000343741:V66M	V	-	1	0	ATR	143767749	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.035000	0.64158	2.594000	0.87642	0.563000	0.77884	GTG		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		15	79	0	0	0	1	0	15	79				
POU5F2	134187	broad.mit.edu	37	5	93076292	93076292	+	Silent	SNP	G	G	A	rs537386489	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr5:93076292G>A	ENST00000510627.4	-	1	1051	c.978C>T	c.(976-978)ctC>ctT	p.L326L	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	326					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTAAAATCTGAGGAGGCCCA	0.582																																						ENST00000510627.4																			0											c.(976-978)ctC>ctT		POU domain class 5, transcription factor 2							39.0	41.0	40.0					5																	93076292		1848	4094	5942	SO:0001819	synonymous_variant	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076292G>A		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.978C>T	5.37:g.93076292G>A						FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	p.L326L	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	1051	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	326					Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	c.978C>T	CCDS59489.1																																																																																				0.582	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		5	46	0	0	0	1	0	5	46				
WDR77	79084	broad.mit.edu	37	1	111986017	111986018	+	Splice_Site	INS	-	-	A			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr1:111986017_111986018insA	ENST00000235090.5	-	7	826		c.e7-1		RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCACTGCAGCCTGCAAAGGAGA	0.475																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e7-1		WD repeat domain 77																																				SO:0001630	splice_region_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111986017_111986018insA	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.620-1->T	1.37:g.111986017_111986018insA						WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site		NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	7	826	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)						B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Splice_Site	INS	ENST00000235090.5	37		CCDS835.1																																																																																				0.475	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102	Intron	2	4						2	4	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202131358	202131359	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr2:202131358_202131359delAA	ENST00000432109.2	+	3	338_339	c.149_150delAA	c.(148-150)gaafs	p.E50fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.E50fs|CASP8_ENST00000358485.4_Frame_Shift_Del_p.E109fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.E50fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.E50fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.E50fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	50	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGACTCCAGGAAAAGAGAATGT	0.46										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(325-327)gfs		caspase 8, apoptosis-related cysteine peptidase																																				SO:0001589	frameshift_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131358_202131359delAA	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.149_150delAA	2.37:g.202131360_202131361delAA	ENSP00000412523:p.Glu50fs	HNSCC(4;0.00038)				CASP8_ENST00000264275.5_Frame_Shift_Del_p.E50fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.E50fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.E50fs	p.E109fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	522_523	+			50			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	c.326_327delAA	CCDS2342.1																																																																																				0.460	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		16	48						16	48	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126751384	126751385	+	In_Frame_Ins	INS	-	-	CCT			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr3:126751384_126751385insCCT	ENST00000393409.2	+	29	5386_5387	c.5386_5387insCCT	c.(5386-5388)ccc>cCCTcc	p.1797_1798insS	PLXNA1_ENST00000251772.4_In_Frame_Ins_p.1774_1775insS|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1797					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAAGGACTCACCCTCCAACAAG	0.624																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5317-5319)ctc>CCTctc		plexin A1																																				SO:0001652	inframe_insertion	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751384_126751385insCCT	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5387_5389dupCCT	3.37:g.126751385_126751387dupCCT	ENSP00000377061:p.Ser1797_Ser1797dup					PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_In_Frame_Ins_p.1796_1797insP	p.1773_1774insP			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	29	5386_5387	+			1796						In_Frame_Ins	INS	ENST00000393409.2	37	c.5317_5318insCCT	CCDS33847.2																																																																																				0.624	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	81						22	81	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		4	8						4	8	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539265	187539266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr4:187539265_187539266insC	ENST00000441802.2	-	10	8683_8684	c.8474_8475insG	c.(8473-8475)ggafs	p.G2825fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2825	Cadherin 26. {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						TTACTCTACTTCCCCCTGGCAG	0.436										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(8473-8475)gagfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539265_187539266insC	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.8475dupG	4.37:g.187539270_187539270dupC	ENSP00000406229:p.Gly2825fs	HNSCC(5;0.00058)					p.E2825fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8683_8684	-			2825			Cadherin 26.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.8474_8475insG	CCDS47177.1																																																																																				0.436	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	138						16	138	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323353	31323354	+	Frame_Shift_Del	DEL	GT	GT	-	rs45610732|rs2257269	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr6:31323353_31323354delGT	ENST00000412585.2	-	4	663_664	c.635_636delAC	c.(634-636)cacfs	p.H212fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	212	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTGGGTCACGTGTGTCTTTGG	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(634-636)cfs		major histocompatibility complex, class I, B																																				SO:0001589	frameshift_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323353_31323354delGT	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.635_636delAC	6.37:g.31323357_31323358delGT	ENSP00000399168:p.His212fs						p.H212fs	NM_005514.6	NP_005505.2					4	663_664	-								Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	c.635_636delAC	CCDS34394.1																																																																																				0.589	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		93	113						93	113	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000424685.2_Start_Codon_Ins|RELN_ENST00000343529.5_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227								reelin																																				SO:0001582	initiator_codon_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629803_103629804insGCCGCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC						RELN_ENST00000428762.1_Start_Codon_Ins|RELN_ENST00000343529.5_Start_Codon_Ins				P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	0	159_160	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Translation_Start_Site	INS	ENST00000428762.1	37		CCDS47680.1																																																																																				0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	8						5	8	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			7	15						7	15	---	---	---	---
C9orf106	414318	broad.mit.edu	37	9	132084723	132084731	+	RNA	DEL	CCAGTTCTG	CCAGTTCTG	-	rs375407261		TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr9:132084723_132084731delCCAGTTCTG	ENST00000316786.1	+	0	684_692							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				AAGAAAGTTCCCAGTTCTGCCTGTCCATC	0.565																																						ENST00000316786.1																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4								chromosome 9 open reading frame 106																																						414318							g.chr9:132084723_132084731delCCAGTTCTG	AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084723_132084731delCCAGTTCTG										Q8NAJ2	CI106_HUMAN			0	684_692	+		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)							RNA	DEL	ENST00000316786.1	37																																																																																						0.565	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			12	57						12	57	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:18435201_18435202insT	ENST00000266497.5	+	1	224_225	c.186_187insT	c.(187-189)tttfs	p.F63fs	PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.F63fs|PIK3C2G_ENST00000433979.1_Frame_Shift_Ins_p.F63fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.F63fs			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	63					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGCC	0.406																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(184-189)acttttfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma																																				SO:0001589	frameshift_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435201_18435202insT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.192dupT	12.37:g.18435207_18435207dupT	ENSP00000266497:p.Phe63fs					PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs	p.TF62fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			2	302_303	+		Hepatocellular(102;0.194)	62					A1L3U0	Frame_Shift_Ins	INS	ENST00000266497.5	37	c.186_187insT	CCDS44839.1																																																																																				0.406	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		17	83						17	83	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			11	287						11	287	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						ENST00000332707.5																			1	Deletion - Frameshift(1)	p.F126fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(370-372)ttfs		exportin, tRNA							118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812755delT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs						p.F126fs	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	899	+			126			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	c.370delT	CCDS31852.1																																																																																				0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		7	257						7	257	---	---	---	---
MTMR10	54893	broad.mit.edu	37	15	31253221	31253222	+	In_Frame_Ins	INS	-	-	CCT			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr15:31253221_31253222insCCT	ENST00000435680.1	-	7	717_718	c.620_621insAGG	c.(619-621)ggt>ggAGGt	p.207_207G>GG	MTMR10_ENST00000425768.1_In_Frame_Ins_p.176_177insE|MTMR10_ENST00000563714.1_In_Frame_Ins_p.125_125G>GG|MTMR10_ENST00000314404.8_5'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	207	Poly-Gly.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGCTCCATTAcctcctcctcc	0.465																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(619-621)gaa>gAGGaa		myotubularin related protein 10																																				SO:0001652	inframe_insertion	54893						phosphatase activity	g.chr15:31253221_31253222insCCT	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.618_620dupAGG	15.37:g.31253228_31253230dupCCT	ENSP00000402537:p.Gly207dup					MTMR10_ENST00000425768.1_In_Frame_Ins_p.176_177insR|MTMR10_ENST00000563714.1_In_Frame_Ins_p.125_125E>EE|MTMR10_ENST00000314404.8_5'UTR	p.207_207E>EE	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	7	717_718	-		all_lung(180;2.81e-11)	207			Poly-Gly.		Q6P4Q6	In_Frame_Ins	INS	ENST00000435680.1	37	c.620_621insAGG	CCDS45204.1																																																																																				0.465	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		3	4						3	4	---	---	---	---
LRRC37A11P	342666	broad.mit.edu	37	17	37196001	37196002	+	RNA	DEL	AG	AG	-	rs34712077|rs3072622|rs202166673	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:37196001_37196002delAG	ENST00000425901.2	+	0	2604					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GAATACAGACAGAAAAGAATTT	0.327														1778	0.355032	0.3911	0.3919	5008	,	,		15719	0.2123		0.4205	False		,,,				2504	0.3599					ENST00000425901.2																			0																																																			342666							g.chr17:37196001_37196002delAG			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37196001_37196002delAG								NR_033753.2						0	2604	+									RNA	DEL	ENST00000425901.2	37																																																																																						0.327	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		7	1						7	1	---	---	---	---
PRR11	55771	broad.mit.edu	37	17	57262426	57262426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr17:57262426delC	ENST00000262293.4	+	3	452	c.140delC	c.(139-141)tctfs	p.S48fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	48						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTCGGTATTTCTTCAATAGAT	0.378																																						ENST00000262293.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(139-141)ttfs		proline rich 11							66.0	71.0	70.0					17																	57262426		2203	4300	6503	SO:0001589	frameshift_variant	55771							g.chr17:57262426delC		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.140delC	17.37:g.57262426delC	ENSP00000262293:p.Ser48fs						p.S48fs	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN			3	452	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		48					Q9NUZ7|Q9NXE9	Frame_Shift_Del	DEL	ENST00000262293.4	37	c.140delC	CCDS11614.1																																																																																				0.378	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		7	133						7	133	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76752542	76752543	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr18:76752542_76752543delGC	ENST00000537592.2	+	2	551_552	c.551_552delGC	c.(550-552)ggcfs	p.G184fs	SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000536229.3_Frame_Shift_Del_p.G51fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	184					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.G184G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TTCTCGCAGGGCGCGCGCGCGG	0.728																																						ENST00000536229.3																			1	Substitution - coding silent(1)	p.G184G(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(151-153)gfs		spalt-like transcription factor 3				78,2960		14,50,1455						1.8	0.1			4	415,5753		73,269,2742	no	frameshift	SALL3	NM_171999.2		87,319,4197	A1A1,A1R,RR		6.7283,2.5675,5.3552				493,8713				SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752542_76752543delGC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.551_552delGC	18.37:g.76752550_76752551delGC	ENSP00000441823:p.Gly184fs					SALL3_ENST00000537592.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs	p.G51fs			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	861_862	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	184					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.152_153delGC	CCDS12013.1																																																																																				0.728	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	5						3	5	---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41173866	41173868	+	In_Frame_Del	DEL	TGC	TGC	-	rs201081747	byFrequency	TCGA-UF-A7JO-01A-11D-A34J-08	TCGA-UF-A7JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d43e084f-7f0f-4143-97c8-9351eedb0fac	3ee49030-1077-43c0-95ca-768a6e90504b	g.chr19:41173866_41173868delTGC	ENST00000252891.4	-	10	1502_1504	c.1335_1337delGCA	c.(1333-1338)cagcaa>caa	p.445_446QQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.404_405QQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.404_405QQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	445	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGAGgctgcttgctgctgttgct	0.67														104	0.0207668	0.0144	0.0331	5008	,	,		15968	0.0		0.0507	False		,,,				2504	0.0112					ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1333-1338)caa>ca		numb homolog (Drosophila)-like				86,4074		5,76,1999						-4.0	0.1			9	263,7789		20,223,3783	no	coding	NUMBL	NM_004756.3		25,299,5782	A1A1,A1R,RR		3.2663,2.0673,2.8578				349,11863				SO:0001651	inframe_deletion	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173866_41173868delTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1335_1337delGCA	19.37:g.41173869_41173871delTGC	ENSP00000252891:p.Gln446del					NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ404del|NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ404del	p.QQ445del	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1502_1504	-			445			Poly-Gln.		Q7Z4J9	In_Frame_Del	DEL	ENST00000252891.4	37	c.1335_1337delGCA	CCDS12561.1																																																																																				0.670	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		4	6						4	6	---	---	---	---
