#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
IPO11	51194	broad.mit.edu	37	5	61733126	61733126	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:61733126G>T	ENST00000325324.6	+	2	189	c.20G>T	c.(19-21)aGc>aTc	p.S7I	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S47I	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	7					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AATAGTGCCAGCACTGTTGTT	0.403																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(19-21)aGc>aTc		importin 11							145.0	139.0	141.0					5																	61733126		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61733126G>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.20G>T	5.37:g.61733126G>T	ENSP00000316651:p.Ser7Ile					IPO11_ENST00000409296.3_Missense_Mutation_p.S47I|KIF2A_ENST00000509663.2_Intron	p.S7I	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	2	189	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	7					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.20G>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739032	0.89573	.	.	ENSG00000086200	ENST00000514647;ENST00000505902;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T	0.44482	0.92;1.88;0.92;1.85	4.98	4.98	0.66077	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.47716	1.5	0.80722	D	1	P;D	0.55605	0.892;0.972	P;P	0.50708	0.55;0.648	T	0.41288	-0.9517	10	0.38643	T	0.18	.	18.4577	0.90727	0.0:0.0:1.0:0.0	.	47;7	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	I	7;7;7;7;47	ENSP00000427129:S7I;ENSP00000316651:S7I;ENSP00000427274:S7I;ENSP00000386992:S47I	ENSP00000316651:S7I	S	+	2	0	IPO11	61768883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.574000	0.86865	0.563000	0.77884	AGC		0.403	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		38	7	1	0	1.57019e-19	1	1.73768e-19	38	7				
CALR	811	broad.mit.edu	37	19	13049506	13049506	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:13049506G>A	ENST00000316448.5	+	1	86	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	5					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GCTGCTATCCGTGCCGCTGCT	0.711											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(13-15)Gtg>Atg		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						11.0	12.0	12.0					19																	13049506		2191	4282	6473	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13049506G>A	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.13G>A	19.37:g.13049506G>A	ENSP00000320866:p.Val5Met		OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	684		p.V5M	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			1	86	+			5					Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.13G>A	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519877	0.44866	.	.	ENSG00000179218	ENST00000316448	T	0.53206	0.63	5.09	3.97	0.46021	.	0.469642	0.20466	N	0.091787	T	0.29783	0.0744	L	0.29908	0.895	0.20926	N	0.999824	B	0.12013	0.005	B	0.06405	0.002	T	0.03910	-1.0993	10	0.39692	T	0.17	-25.4382	3.624	0.08107	0.0905:0.1646:0.5744:0.1705	.	5	P27797	CALR_HUMAN	M	5	ENSP00000320866:V5M	ENSP00000320866:V5M	V	+	1	0	CALR	12910506	0.281000	0.24258	0.075000	0.20258	0.977000	0.68977	0.925000	0.28791	2.750000	0.94351	0.561000	0.74099	GTG		0.711	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		15	10	0	0	0	1	0	15	10				
AJAP1	55966	broad.mit.edu	37	1	4772258	4772258	+	Missense_Mutation	SNP	G	G	A	rs369972327		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:4772258G>A	ENST00000378191.4	+	2	709	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	AJAP1_ENST00000378190.3_Missense_Mutation_p.A110T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	110					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCAGGCGGCCGCCCTCGTGCC	0.736																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(328-330)Gcc>Acc		adherens junctions associated protein 1							8.0	7.0	7.0					1																	4772258		1890	3802	5692	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772258G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.328G>A	1.37:g.4772258G>A	ENSP00000367433:p.Ala110Thr					AJAP1_ENST00000378190.3_Missense_Mutation_p.A110T	p.A110T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	709	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	110					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.328G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	0.467	-0.886371	0.02511	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.42131	0.98;0.98	5.03	-5.46	0.02608	.	1.311810	0.04811	N	0.435301	T	0.16257	0.0391	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.27773	-1.0064	10	0.07644	T	0.81	-0.8856	7.2711	0.26258	0.6003:0.0:0.2812:0.1185	.	110	Q9UKB5	AJAP1_HUMAN	T	110	ENSP00000367432:A110T;ENSP00000367433:A110T	ENSP00000367432:A110T	A	+	1	0	AJAP1	4672118	0.000000	0.05858	0.035000	0.18076	0.061000	0.15899	-0.979000	0.03774	-0.953000	0.03645	-0.984000	0.02558	GCC		0.736	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		12	3	0	0	0	1	0	12	3				
RP1L1	94137	broad.mit.edu	37	8	10480144	10480144	+	Missense_Mutation	SNP	G	G	C	rs202110498	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:10480144G>C	ENST00000382483.3	-	2	791	c.568C>G	c.(568-570)Cgc>Ggc	p.R190G	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	190	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGAAAGCGCAGGAGATCT	0.512																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(568-570)Cgc>Ggc		retinitis pigmentosa 1-like 1							139.0	131.0	134.0					8																	10480144		1929	4145	6074	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480144G>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.568C>G	8.37:g.10480144G>C	ENSP00000371923:p.Arg190Gly					RP1L1_ENST00000329335.3_5'UTR	p.R190G	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	791	-			190					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.568C>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039209	0.19669	.	.	ENSG00000183638	ENST00000382483	D	0.91631	-2.88	4.71	2.87	0.33458	.	0.543874	0.13956	U	0.351158	D	0.87888	0.6291	L	0.36672	1.1	0.30963	N	0.723422	B	0.30937	0.301	B	0.34779	0.189	D	0.84736	0.0748	10	0.66056	D	0.02	-3.2699	9.2348	0.37459	0.0805:0.1459:0.7736:0.0	.	190	A6NKC6	.	G	190	ENSP00000371923:R190G	ENSP00000371923:R190G	R	-	1	0	RP1L1	10517554	1.000000	0.71417	0.194000	0.23346	0.165000	0.22458	5.177000	0.65032	0.568000	0.29311	-0.254000	0.11334	CGC		0.512	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			111	81	0	0	0	1	0	111	81				
LAMA5	3911	broad.mit.edu	37	20	60913126	60913126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr20:60913126C>A	ENST00000252999.3	-	14	1903	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	613	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAATGAGGTCCAGCAAACTCA	0.652																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1837-1839)Gga>Tga		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	38.0	38.0					20																	60913126		2201	4294	6495	SO:0001587	stop_gained	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60913126C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1837G>T	20.37:g.60913126C>A	ENSP00000252999:p.Gly613*						p.G613*	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		14	1903	-	Breast(26;1.57e-08)		613			Laminin EGF-like 6.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.1837G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	38	6.879177	0.97904	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.585	0.91185	0.0:1.0:0.0:0.0	.	.	.	.	X	613	.	ENSP00000252999:G613X	G	-	1	0	LAMA5	60346521	1.000000	0.71417	0.926000	0.36857	0.099000	0.18886	7.573000	0.82421	2.386000	0.81285	0.585000	0.79938	GGA		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		42	13	1	0	4.44401e-20	1	4.9845e-20	42	13				
NKAPL	222698	broad.mit.edu	37	6	28227369	28227369	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:28227369C>T	ENST00000343684.3	+	1	272	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTCGCGAGGGCGGCTCCCAAG	0.612																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(220-222)Cgg>Tgg		NFKB activating protein-like							53.0	56.0	55.0					6																	28227369		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227369C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.220C>T	6.37:g.28227369C>T	ENSP00000345716:p.Arg74Trp						p.R74W	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	272	+			74					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.220C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818641	0.50633	.	.	ENSG00000189134	ENST00000343684	T	0.16073	2.37	4.77	4.77	0.60923	.	1.558050	0.04148	N	0.320887	T	0.13543	0.0328	M	0.70275	2.135	0.09310	N	0.999998	D	0.56287	0.975	B	0.40565	0.333	T	0.24728	-1.0152	10	0.51188	T	0.08	0.0535	13.5138	0.61528	0.0:1.0:0.0:0.0	.	74	Q5M9Q1	NKAPL_HUMAN	W	74	ENSP00000345716:R74W	ENSP00000345716:R74W	R	+	1	2	NKAPL	28335348	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.950000	0.29122	2.656000	0.90262	0.655000	0.94253	CGG		0.612	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			54	27	0	0	0	1	0	54	27				
SGIP1	84251	broad.mit.edu	37	1	67148015	67148015	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:67148015C>T	ENST00000371037.4	+	15	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SGIP1_ENST00000237247.6_Silent_p.P430P|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	426	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTCGTCCCCCGGACCTGGCT	0.562																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1276-1278)ccC>ccT		SH3-domain GRB2-like (endophilin) interacting protein 1							107.0	122.0	117.0					1																	67148015		2202	4296	6498	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67148015C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1278C>T	1.37:g.67148015C>T						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P430P	p.P426P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1355	+			426			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1278C>T	CCDS30744.1																																																																																				0.562	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		158	154	0	0	0	1	0	158	154				
DACH1	1602	broad.mit.edu	37	13	72204835	72204835	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr13:72204835C>G	ENST00000359684.2	-	3	984	c.985G>C	c.(985-987)Gct>Cct	p.A329P	DACH1_ENST00000305425.4_Missense_Mutation_p.A329P|DACH1_ENST00000313174.7_Missense_Mutation_p.A329P|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	329	Interaction with SIX6 and HDAC3. {ECO:0000250}.|Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgctgcagcggctgcTGTC	0.358																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(985-987)Gct>Cct		dachshund homolog 1 (Drosophila)							89.0	80.0	82.0					13																	72204835		1804	4062	5866	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204835C>G	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.985G>C	13.37:g.72204835C>G	ENSP00000352712:p.Ala329Pro					DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.A329P|DACH1_ENST00000313174.7_Missense_Mutation_p.A329P	p.A329P	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1407	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	327			Interaction with SIX6 and HDAC3 (By similarity).|Poly-Ala.		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.985G>C		.	.	.	.	.	.	.	.	.	.	C	28.8	4.954583	0.92726	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.38077	1.16;1.33;1.19	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.24905	-1.0147	10	0.27082	T	0.32	-10.1466	20.4702	0.99162	0.0:1.0:0.0:0.0	.	327;327	Q9UI36-3;Q9UI36-2	.;.	P	329	ENSP00000304994:A329P;ENSP00000318506:A329P;ENSP00000352712:A329P	ENSP00000304994:A329P	A	-	1	0	DACH1	71102836	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.131000	0.71670	2.937000	0.99478	0.650000	0.86243	GCT		0.358	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		42	82	0	0	0	1	0	42	82				
SLC7A3	84889	broad.mit.edu	37	X	70148385	70148385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:70148385C>T	ENST00000374299.3	-	4	772	c.628G>A	c.(628-630)Gtt>Att	p.V210I	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V210I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	210					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCCCCTTAACGAAGCCAGAG	0.507																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(628-630)Gtt>Att		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						68.0	49.0	55.0					X																	70148385		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148385C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.628G>A	X.37:g.70148385C>T	ENSP00000363417:p.Val210Ile					SLC7A3_ENST00000298085.4_Missense_Mutation_p.V210I	p.V210I			Q8WY07	CTR3_HUMAN			4	772	-	Renal(35;0.156)		210					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.628G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	3.445	-0.113253	0.06881	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89415	-2.51;-2.51	4.95	2.57	0.30868	Amino acid permease domain (1);	0.173169	0.52532	N	0.000070	T	0.65123	0.2661	N	0.01464	-0.85	0.24630	N	0.993623	B	0.02656	0.0	B	0.04013	0.001	T	0.56481	-0.7972	10	0.02654	T	1	.	7.548	0.27778	0.0:0.3515:0.0:0.6485	.	210	Q8WY07	CTR3_HUMAN	I	210	ENSP00000363417:V210I;ENSP00000298085:V210I	ENSP00000298085:V210I	V	-	1	0	SLC7A3	70065110	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	0.810000	0.27183	-0.021000	0.14009	-0.573000	0.04149	GTT		0.507	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		9	6	0	0	0	1	0	9	6				
MYOM2	9172	broad.mit.edu	37	8	2021507	2021507	+	Silent	SNP	C	C	T	rs144735881		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:2021507C>T	ENST00000262113.4	+	10	1188	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	349	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACAAGGACGACGAGGGCCTGT	0.607																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1045-1047)gaC>gaT		myomesin 2		C		0,4406		0,0,2203	80.0	68.0	72.0		1047	-1.1	1.0	8	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		349/1466	2021507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021507C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1047C>T	8.37:g.2021507C>T						MYOM2_ENST00000523438.1_Intron	p.D349D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1188	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	349			Ig-like C2-type 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1047C>T	CCDS5957.1																																																																																				0.607	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		48	25	0	0	0	1	0	48	25				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		3	22	0	0	0	1	0	3	22				
DNAH2	146754	broad.mit.edu	37	17	7671536	7671536	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7671536A>G	ENST00000572933.1	+	24	5352	c.3892A>G	c.(3892-3894)Agg>Ggg	p.R1298G	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1298G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1298	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGTTCAAGAGGACCATGCC	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3892-3894)Agg>Ggg		dynein, axonemal, heavy chain 2							121.0	120.0	121.0					17																	7671536		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7671536A>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3892A>G	17.37:g.7671536A>G	ENSP00000458355:p.Arg1298Gly					DNAH2_ENST00000389173.2_Missense_Mutation_p.R1298G	p.R1298G			Q9P225	DYH2_HUMAN			24	5352	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1298			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.3892A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.660029	0.67586	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61158	0.13	4.56	2.27	0.28462	Dynein heavy chain, domain-2 (1);	0.384630	0.23035	N	0.052687	T	0.66376	0.2783	M	0.61703	1.905	0.80722	D	1	D	0.53885	0.963	D	0.64321	0.924	T	0.63761	-0.6564	10	0.51188	T	0.08	.	7.3585	0.26733	0.7261:0.1787:0.0952:0.0	.	1298	Q9P225	DYH2_HUMAN	G	1298	ENSP00000373825:R1298G	ENSP00000353818:R1298G	R	+	1	2	DNAH2	7612261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.798000	0.38814	0.604000	0.29930	0.459000	0.35465	AGG		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		118	85	0	0	0	1	0	118	85				
ABHD16A	7920	broad.mit.edu	37	6	31669903	31669903	+	Missense_Mutation	SNP	G	G	C	rs551585963		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31669903G>C	ENST00000395952.3	-	2	299	c.137C>G	c.(136-138)aCg>aGg	p.T46R	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000440843.2_Intron	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	46						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGATAGTACGTATCCTGCCA	0.557																																						ENST00000395952.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(136-138)aCg>aGg		abhydrolase domain containing 16A							131.0	88.0	103.0					6																	31669903		1511	2709	4220	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31669903G>C	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.137C>G	6.37:g.31669903G>C	ENSP00000379282:p.Thr46Arg					ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	p.T46R	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN			2	299	-			46					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.137C>G	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	38	7.073352	0.98044	.	.	ENSG00000204427	ENST00000395952	.	.	.	5.66	5.66	0.87406	.	0.461279	0.22974	N	0.053389	T	0.24890	0.0604	N	0.08118	0	0.80722	D	1	B	0.28055	0.199	B	0.23419	0.046	T	0.16276	-1.0408	9	0.49607	T	0.09	-2.947	15.2318	0.73395	0.0:0.0:1.0:0.0	.	46	O95870	ABHGA_HUMAN	R	46	.	ENSP00000379282:T46R	T	-	2	0	ABHD16A	31777882	0.990000	0.36364	0.956000	0.39512	0.959000	0.62525	4.836000	0.62789	2.668000	0.90789	0.561000	0.74099	ACG		0.557	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			11	50	0	0	0	1	0	11	50				
HSPG2	3339	broad.mit.edu	37	1	22161313	22161313	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:22161313C>T	ENST00000374695.3	-	77	10658	c.10579G>A	c.(10579-10581)Ggg>Agg	p.G3527R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3527	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGCAGGTGCCCTCCAACTTTG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10579-10581)Ggg>Agg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						92.0	71.0	78.0					1																	22161313		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161313C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10579G>A	1.37:g.22161313C>T	ENSP00000363827:p.Gly3527Arg						p.G3527R	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	77	10658	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3527			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10579G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747272	0.49257	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	T;T	0.65732	-0.17;-0.17	4.89	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39083	N	0.001477	T	0.63307	0.2500	L	0.28556	0.865	0.35436	D	0.794472	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.64812	-0.6319	10	0.18710	T	0.47	.	8.2763	0.31874	0.0:0.8181:0.0:0.1819	.	1467;3527	Q59EG0;P98160	.;PGBM_HUMAN	R	3527;79	ENSP00000363827:G3527R;ENSP00000392022:G79R	ENSP00000363827:G3527R	G	-	1	0	HSPG2	22033900	0.995000	0.38212	0.111000	0.21465	0.281000	0.26958	3.669000	0.54561	1.058000	0.40530	0.313000	0.20887	GGG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		35	41	0	0	0	1	0	35	41				
FLVCR2	55640	broad.mit.edu	37	14	76091051	76091051	+	Missense_Mutation	SNP	G	G	A	rs199824003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr14:76091051G>A	ENST00000238667.4	+	3	1264	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98Q|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	303					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCATCGCCCGGCTCTTCAAA	0.483																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(907-909)cGg>cAg		feline leukemia virus subgroup C cellular receptor family, member 2							114.0	109.0	111.0					14																	76091051		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091051G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.908G>A	14.37:g.76091051G>A	ENSP00000238667:p.Arg303Gln					FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98Q|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51Q	p.R303Q	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1264	+			303					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.908G>A	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669141	0.47677	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	6.02	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046453	0.85682	N	0.000000	T	0.56217	0.1970	M	0.67700	2.07	0.80722	D	1	B;B	0.26041	0.14;0.007	B;B	0.28232	0.087;0.025	T	0.53019	-0.8497	10	0.08599	T	0.76	-1.9448	17.3623	0.87354	0.0671:0.0:0.9329:0.0	.	98;303	B7Z485;Q9UPI3	.;FLVC2_HUMAN	Q	303;98;51;51;51	ENSP00000238667:R303Q;ENSP00000443439:R98Q;ENSP00000451104:R51Q;ENSP00000451603:R51Q;ENSP00000452468:R51Q	ENSP00000238667:R303Q	R	+	2	0	AC007182.1	75160804	1.000000	0.71417	0.990000	0.47175	0.726000	0.41606	5.774000	0.68906	0.899000	0.36444	-0.797000	0.03246	CGG		0.483	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		83	2	0	0	0	1	0	83	2				
NFIB	4781	broad.mit.edu	37	9	14307309	14307309	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr9:14307309G>A	ENST00000380959.3	-	2	714	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIB_ENST00000397579.2_Missense_Mutation_p.R81C|NFIB_ENST00000380953.1_Missense_Mutation_p.R81C|NFIB_ENST00000397581.2_Missense_Mutation_p.R81C|NFIB_ENST00000380921.3_Missense_Mutation_p.R81C|NFIB_ENST00000397575.3_Missense_Mutation_p.R81C|NFIB_ENST00000380934.4_Missense_Mutation_p.R107C	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	81					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R81C(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATATCTTTGCGCAGTTTGGCA	0.493			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		2	Substitution - Missense(2)	p.R81C(2)	endometrium(2)	central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(241-243)Cgc>Tgc		nuclear factor I/B							165.0	151.0	156.0					9																	14307309		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307309G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.241C>T	9.37:g.14307309G>A	ENSP00000370346:p.Arg81Cys					NFIB_ENST00000380934.4_Missense_Mutation_p.R107C|NFIB_ENST00000380953.1_Missense_Mutation_p.R81C|NFIB_ENST00000380921.3_Missense_Mutation_p.R81C|NFIB_ENST00000397579.2_Missense_Mutation_p.R81C|NFIB_ENST00000397575.3_Missense_Mutation_p.R81C|NFIB_ENST00000397581.2_Missense_Mutation_p.R81C	p.R81C	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	714	-			81					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.241C>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312156	0.81358	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.051086	0.85682	D	0.000000	D	0.88876	0.6556	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;P	0.81914	0.684;0.995;0.761	D	0.89424	0.3712	10	0.87932	D	0	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	81;81;81	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	C	107;81;81;81;81;81;81	ENSP00000370321:R107C;ENSP00000370346:R81C;ENSP00000370340:R81C;ENSP00000380705:R81C;ENSP00000380711:R81C;ENSP00000380709:R81C;ENSP00000370308:R81C	ENSP00000370308:R81C	R	-	1	0	NFIB	14297309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.903000	0.87398	2.686000	0.91538	0.650000	0.86243	CGC		0.493	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		32	7	0	0	0	1	0	32	7				
FOPNL	123811	broad.mit.edu	37	16	15978005	15978005	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:15978005C>T	ENST00000255759.6	-	2	115	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000573968.1_Missense_Mutation_p.R29Q|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000573429.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000575073.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573396.1_Missense_Mutation_p.R29Q	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	29	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AACTTCAGCTCGGATCCTTGC	0.358																																						ENST00000255759.6																			0				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						c.(85-87)cGa>cAa		FGFR1OP N-terminal like							79.0	83.0	82.0					16																	15978005		2197	4300	6497	SO:0001583	missense	123811				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	g.chr16:15978005C>T	AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.86G>A	16.37:g.15978005C>T	ENSP00000255759:p.Arg29Gln					FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573396.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573429.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573968.1_Missense_Mutation_p.R29Q	p.R29Q	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN			2	115	-			29			Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.		B3KPU9	Missense_Mutation	SNP	ENST00000255759.6	37	c.86G>A	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.039328	0.93630	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.96	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.90082	3.085	0.42665	D	0.993492	D;D	0.89917	1.0;1.0	D;D	0.74023	0.94;0.982	D	0.85468	0.1171	9	0.72032	D	0.01	-1.5456	12.7977	0.57567	0.0:0.9249:0.0:0.0751	.	29;29	B3KPU9;Q96NB1	.;FOPNL_HUMAN	Q	29	.	ENSP00000255759:R29Q	R	-	2	0	FOPNL	15885506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.102000	0.77005	1.548000	0.49413	-0.175000	0.13238	CGA		0.358	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		19	22	0	0	0	1	0	19	22				
CCDC57	284001	broad.mit.edu	37	17	80141803	80141803	+	Missense_Mutation	SNP	C	C	T	rs557708547	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:80141803C>T	ENST00000389641.4	-	8	1094	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.R353H|CCDC57_ENST00000392343.3_Missense_Mutation_p.R353H			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	353										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCATCTTCACGAAGTCTAAA	0.468													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19351	0.0		0.0	False		,,,				2504	0.001					ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1057-1059)cGt>cAt		coiled-coil domain containing 57							86.0	83.0	84.0					17																	80141803		1978	4159	6137	SO:0001583	missense	284001							g.chr17:80141803C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1058G>A	17.37:g.80141803C>T	ENSP00000374292:p.Arg353His					CCDC57_ENST00000389641.4_Missense_Mutation_p.R353H|CCDC57_ENST00000392343.3_Missense_Mutation_p.R353H|CCDC57_ENST00000327026.3_5'UTR	p.R353H	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		8	1094	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		353					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1058G>A		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340033	0.41398	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.26518	2.89;2.89;1.73	4.92	1.78	0.24846	.	0.555807	0.16923	N	0.194003	T	0.19644	0.0472	L	0.60455	1.87	0.09310	N	1	P;P	0.45569	0.754;0.861	B;B	0.34346	0.105;0.18	T	0.14699	-1.0463	10	0.62326	D	0.03	-4.7761	7.3565	0.26721	0.0:0.6993:0.0:0.3007	.	353;353	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	H	353	ENSP00000374292:R353H;ENSP00000376158:R353H;ENSP00000376154:R353H	ENSP00000374292:R353H	R	-	2	0	CCDC57	77735092	0.015000	0.18098	0.008000	0.14137	0.590000	0.36582	0.367000	0.20382	0.581000	0.29539	0.585000	0.79938	CGT		0.468	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		17	23	0	0	0	1	0	17	23				
ANKS4B	257629	broad.mit.edu	37	16	21261508	21261508	+	Silent	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:21261508C>A	ENST00000311620.5	+	2	694	c.621C>A	c.(619-621)atC>atA	p.I207I		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	207					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTTTCAAGATCAAGTTCAAGA	0.473																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(619-621)atC>atA		ankyrin repeat and sterile alpha motif domain containing 4B							100.0	104.0	102.0					16																	21261508		1977	4167	6144	SO:0001819	synonymous_variant	257629							g.chr16:21261508C>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.621C>A	16.37:g.21261508C>A							p.I207I	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	694	+			207						Silent	SNP	ENST00000311620.5	37	c.621C>A	CCDS42130.1																																																																																				0.473	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		3	42	1	0	1	1	1	3	42				
ENPEP	2028	broad.mit.edu	37	4	111436563	111436563	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:111436563T>C	ENST00000265162.5	+	8	1816	c.1474T>C	c.(1474-1476)Tgg>Cgg	p.W492R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	492					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCTTGAAGACTGGATAAAACC	0.308																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1474-1476)Tgg>Cgg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						98.0	103.0	101.0					4																	111436563		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111436563T>C	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1474T>C	4.37:g.111436563T>C	ENSP00000265162:p.Trp492Arg					RP11-380D23.1_ENST00000503998.1_RNA	p.W492R	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	8	1816	+		Hepatocellular(203;0.217)	492					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1474T>C	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679688	0.68042	.	.	ENSG00000138792	ENST00000265162	T	0.04234	3.67	5.59	5.59	0.84812	.	0.181983	0.53938	D	0.000043	T	0.21427	0.0516	M	0.77486	2.375	0.58432	D	0.999998	D	0.76494	0.999	D	0.66497	0.944	T	0.00369	-1.1784	10	0.87932	D	0	.	15.7564	0.78030	0.0:0.0:0.0:1.0	.	492	Q07075	AMPE_HUMAN	R	492	ENSP00000265162:W492R	ENSP00000265162:W492R	W	+	1	0	ENPEP	111656012	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.920000	0.70017	2.135000	0.66039	0.528000	0.53228	TGG		0.308	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			23	19	0	0	0	1	0	23	19				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	84	0	0	0	1	0	5	84				
PHACTR2	9749	broad.mit.edu	37	6	144093533	144093533	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:144093533C>T	ENST00000427704.2	+	7	1468	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	PHACTR2_ENST00000367582.3_Silent_p.D377D|PHACTR2_ENST00000305766.6_Silent_p.D366D|PHACTR2_ENST00000440869.2_Silent_p.D457D|PHACTR2_ENST00000367584.4_Silent_p.D434D	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	446							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGACTCGGACGGGCCTATCT	0.517																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1336-1338)gaC>gaT		phosphatase and actin regulator 2							71.0	80.0	77.0					6																	144093533		2142	4253	6395	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144093533C>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1338C>T	6.37:g.144093533C>T						PHACTR2_ENST00000440869.2_Silent_p.D457D|PHACTR2_ENST00000367584.4_Silent_p.D434D|PHACTR2_ENST00000367582.3_Silent_p.D377D|PHACTR2_ENST00000305766.6_Silent_p.D366D	p.D446D	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	7	1468	+			446					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.1338C>T	CCDS47492.1																																																																																				0.517	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		25	21	0	0	0	1	0	25	21				
SHPRH	257218	broad.mit.edu	37	6	146243850	146243850	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:146243850A>G	ENST00000367505.2	-	19	3932	c.3668T>C	c.(3667-3669)aTt>aCt	p.I1223T	SHPRH_ENST00000438092.2_Missense_Mutation_p.I1227T|SHPRH_ENST00000367503.3_Missense_Mutation_p.I1227T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1223T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1223					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCAGACTCAATAACATTACG	0.413																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3679-3681)aTt>aCt		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							93.0	92.0	92.0					6																	146243850		1886	4107	5993	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146243850A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3668T>C	6.37:g.146243850A>G	ENSP00000356475:p.Ile1223Thr					SHPRH_ENST00000438092.2_Missense_Mutation_p.I1227T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1223T|SHPRH_ENST00000367505.2_Missense_Mutation_p.I1223T	p.I1227T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	19	4078	-		Ovarian(120;0.0365)	1223					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3680T>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444308	0.83993	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.80653	-1.28;-1.4;-1.4;-1.28	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.958;1.0;1.0	P;D;D	0.87578	0.471;0.996;0.998	D	0.86664	0.1906	10	0.66056	D	0.02	-18.5666	15.3618	0.74483	1.0:0.0:0.0:0.0	.	422;1223;1227	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	T	1223;1227;1227;1223	ENSP00000356475:I1223T;ENSP00000356473:I1227T;ENSP00000412797:I1227T;ENSP00000275233:I1223T	ENSP00000275233:I1223T	I	-	2	0	SHPRH	146285543	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.087000	0.94110	2.096000	0.63516	0.528000	0.53228	ATT		0.413	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		47	21	0	0	0	1	0	47	21				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	48	0	0	0	1	0	4	48				
IRS1	3667	broad.mit.edu	37	2	227661386	227661386	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:227661386G>T	ENST00000305123.5	-	1	3089	c.2069C>A	c.(2068-2070)cCt>cAt	p.P690H	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	690					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGTCCCGGAAGGGACGGCGTt	0.627											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2068-2070)cCt>cAt		insulin receptor substrate 1							63.0	67.0	66.0					2																	227661386		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661386G>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2069C>A	2.37:g.227661386G>T	ENSP00000304895:p.Pro690His		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.P690H	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3089	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	690						Missense_Mutation	SNP	ENST00000305123.5	37	c.2069C>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	7.859	0.725629	0.15439	.	.	ENSG00000169047	ENST00000305123	T	0.62639	0.01	4.54	3.63	0.41609	.	0.299405	0.24226	N	0.040385	T	0.52980	0.1768	L	0.49126	1.545	0.25732	N	0.985253	P	0.37864	0.61	B	0.35312	0.2	T	0.52260	-0.8599	10	0.66056	D	0.02	-2.3681	9.602	0.39609	0.0:0.0:0.7915:0.2085	.	690	P35568	IRS1_HUMAN	H	690	ENSP00000304895:P690H	ENSP00000304895:P690H	P	-	2	0	IRS1	227369630	0.902000	0.30710	0.845000	0.33349	0.082000	0.17680	1.516000	0.35856	1.080000	0.41073	0.561000	0.74099	CCT		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		39	59	1	0	1.60099e-16	1	1.72574e-16	39	59				
CLIC1	1192	broad.mit.edu	37	6	31701648	31701648	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31701648A>C	ENST00000375780.2	-	4	812	c.240T>G	c.(238-240)atT>atG	p.I80M	CLIC1_ENST00000375779.2_Missense_Mutation_p.I80M|CLIC1_ENST00000375784.3_Missense_Mutation_p.I80M|CLIC1_ENST00000395892.1_Missense_Mutation_p.I80M			O00299	CLIC1_HUMAN	chloride intracellular channel 1	80	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GAAATTCCTCAATCTTGTTGG	0.562																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(238-240)atT>atG		chloride intracellular channel 1							87.0	87.0	87.0					6																	31701648		2203	4300	6503	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701648A>C	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.240T>G	6.37:g.31701648A>C	ENSP00000364935:p.Ile80Met					CLIC1_ENST00000375784.3_Missense_Mutation_p.I80M|CLIC1_ENST00000375779.2_Missense_Mutation_p.I80M|CLIC1_ENST00000395892.1_Missense_Mutation_p.I80M	p.I80M			O00299	CLIC1_HUMAN			4	812	-			80			Required for insertion into the membrane.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.240T>G	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404631	0.42613	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.1	-1.39	0.08997	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.42177	0.1191	M	0.88512	2.96	0.58432	D	0.999999	B	0.22480	0.07	B	0.26770	0.073	T	0.39643	-0.9604	10	0.59425	D	0.04	-6.5374	5.8467	0.18669	0.363:0.0:0.4848:0.1522	.	80	O00299	CLIC1_HUMAN	M	80	ENSP00000364940:I80M;ENSP00000364934:I80M;ENSP00000364935:I80M;ENSP00000379229:I80M	ENSP00000364934:I80M	I	-	3	3	CLIC1	31809627	0.240000	0.23847	0.997000	0.53966	0.999000	0.98932	-0.349000	0.07731	-0.167000	0.10871	0.528000	0.53228	ATT		0.562	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		103	54	0	0	0	1	0	103	54				
PSME3	10197	broad.mit.edu	37	17	40990780	40990780	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:40990780G>C	ENST00000590720.1	+	7	671	c.438G>C	c.(436-438)agG>agC	p.R146S	PSME3_ENST00000441946.2_Missense_Mutation_p.R157S|PSME3_ENST00000545225.1_Missense_Mutation_p.R85S|PSME3_ENST00000293362.3_Missense_Mutation_p.R159S|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Missense_Mutation_p.R90S			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGATTCCCAGGATAGAAGATG	0.458																																						ENST00000293362.3																			0				NS(1)|cervix(1)|large_intestine(3)|lung(1)	6						c.(475-477)agG>agC		proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)							94.0	97.0	96.0					17																	40990780		2203	4300	6503	SO:0001583	missense	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40990780G>C	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.438G>C	17.37:g.40990780G>C	ENSP00000466794:p.Arg146Ser					PSME3_ENST00000545225.1_Missense_Mutation_p.R85S|PSME3_ENST00000590720.1_Missense_Mutation_p.R146S|PSME3_ENST00000441946.2_Missense_Mutation_p.R157S|PSME3_ENST00000592169.1_Missense_Mutation_p.R90S|PSME3_ENST00000541124.1_3'UTR	p.R159S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	7	638	+		Breast(137;0.000143)	146					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.477G>C	CCDS45689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.990835|3.990835	0.74703|0.74703	.|.	.|.	ENSG00000131467|ENSG00000131467	ENST00000543428|ENST00000545225;ENST00000293362;ENST00000441946	T|T;T	0.47177|0.51817	0.85|0.69;0.69	5.51|5.51	0.0427|0.0427	0.14218|0.14218	.|Proteasome activator pa28, REG beta subunit (2);	.|0.042172	.|0.85682	.|D	.|0.000000	T|T	0.52092|0.52092	0.1713|0.1713	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.42078	.|0.77;0.611;0.611;0.763	.|B;B;B;B	.|0.43508	.|0.422;0.272;0.272;0.311	T|T	0.58707|0.58707	-0.7589|-0.7589	7|10	0.72032|0.87932	D|D	0.01|0	-26.6103|-26.6103	9.6412|9.6412	0.39839|0.39839	0.4046:0.0:0.5954:0.0|0.4046:0.0:0.5954:0.0	.|.	.|85;146;146;159	.|B3KQ25;Q6FHK7;P61289;P61289-2	.|.;.;PSME3_HUMAN;.	H|S	109|85;159;146	ENSP00000437924:D109H|ENSP00000441682:R85S;ENSP00000293362:R159S	ENSP00000437924:D109H|ENSP00000293362:R159S	D|R	+|+	1|3	0|2	PSME3|PSME3	38244306|38244306	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	1.166000|1.166000	0.31834|0.31834	0.145000|0.145000	0.18977|0.18977	-0.258000|-0.258000	0.10820|0.10820	GAT|AGG		0.458	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		51	45	0	0	0	1	0	51	45				
ZKSCAN1	7586	broad.mit.edu	37	7	99631178	99631178	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:99631178G>C	ENST00000324306.6	+	6	1284	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K137N|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K314N	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	350					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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAAGGGAGAAGGGGAAAGGAT	0.473																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1048-1050)aaG>aaC		zinc finger with KRAB and SCAN domains 1							71.0	77.0	75.0					7																	99631178		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631178G>C	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1050G>C	7.37:g.99631178G>C	ENSP00000323148:p.Lys350Asn					ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K314N|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K137N	p.K350N	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1284	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		350					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.1050G>C	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578860	0.46006	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.07908	3.24;3.2;3.15	5.18	1.43	0.22495	.	0.000000	0.64402	D	0.000016	T	0.16599	0.0399	L	0.56396	1.775	0.33652	D	0.608543	D	0.65815	0.995	P	0.57911	0.829	T	0.15867	-1.0422	10	0.72032	D	0.01	.	8.6072	0.33780	0.3326:0.0:0.6674:0.0	.	350	P17029	ZKSC1_HUMAN	N	350;314;137	ENSP00000323148:K350N;ENSP00000409172:K314N;ENSP00000443508:K137N	ENSP00000323148:K350N	K	+	3	2	ZKSCAN1	99469114	.	.	0.997000	0.53966	0.923000	0.55619	.	.	0.457000	0.26962	0.557000	0.71058	AAG		0.473	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		15	23	0	0	0	1	0	15	23				
GJA1	2697	broad.mit.edu	37	6	121768821	121768821	+	Silent	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:121768821T>C	ENST00000282561.3	+	2	985	c.828T>C	c.(826-828)gcT>gcC	p.A276A		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	276					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CACCAACCGCTCCCCTCTCGC	0.512																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(826-828)gcT>gcC		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						61.0	64.0	63.0					6																	121768821		2203	4300	6503	SO:0001819	synonymous_variant	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768821T>C	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.828T>C	6.37:g.121768821T>C							p.A276A	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	985	+			276					B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	ENST00000282561.3	37	c.828T>C	CCDS5123.1																																																																																				0.512	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		17	55	0	0	0	1	0	17	55				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	20	0	0	0	1	0	3	20				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	82	0	0	0	1	0	5	82				
SIAH1	6477	broad.mit.edu	37	16	48395912	48395912	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:48395912G>A	ENST00000380006.2	-	1	1881	c.428C>T	c.(427-429)gCt>gTt	p.A143V	SIAH1_ENST00000356721.3_Missense_Mutation_p.A174V|SIAH1_ENST00000394725.2_Missense_Mutation_p.A143V|SIAH1_ENST00000573005.1_5'Flank			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	143	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGGCATTACAGCATCCAGAGA	0.468																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(427-429)gCt>gTt		siah E3 ubiquitin protein ligase 1							86.0	70.0	75.0					16																	48395912		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395912G>A	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.428C>T	16.37:g.48395912G>A	ENSP00000369343:p.Ala143Val					SIAH1_ENST00000356721.3_Missense_Mutation_p.A174V|SIAH1_ENST00000394725.2_Missense_Mutation_p.A143V	p.A143V			Q8IUQ4	SIAH1_HUMAN			1	1881	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	143			SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.428C>T	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297120	0.60086	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.26810	1.71;1.71	5.2	5.2	0.72013	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	U	0.000000	T	0.25901	0.0631	L	0.56340	1.77	0.80722	D	1	P;P	0.38582	0.543;0.638	B;B	0.34931	0.192;0.169	T	0.04946	-1.0916	10	0.15952	T	0.53	-4.5946	19.0874	0.93209	0.0:0.0:1.0:0.0	.	143;174	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	V	174;143;159	ENSP00000349156:A174V;ENSP00000378214:A143V	ENSP00000349156:A174V	A	-	2	0	SIAH1	46953413	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.813000	0.99286	2.590000	0.87494	0.655000	0.94253	GCT		0.468	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			3	41	0	0	0	1	0	3	41				
SLC25A3	5250	broad.mit.edu	37	12	98987870	98987870	+	Silent	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:98987870C>G	ENST00000228318.3	+	2	234	c.114C>G	c.(112-114)ggC>ggG	p.G38G	SLC25A3_ENST00000547534.1_Silent_p.G38G|SLC25A3_ENST00000401722.3_Silent_p.G38G|SLC25A3_ENST00000552981.1_Silent_p.G38G|SLC25A3_ENST00000549338.1_Silent_p.G38G|SLC25A3_ENST00000548847.1_Silent_p.G38G|SLC25A3_ENST00000551917.1_Silent_p.G38G|SLC25A3_ENST00000551265.1_Silent_p.G38G|SLC25A3_ENST00000188376.5_Silent_p.G38G	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	38					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGCCCACGGGCCAGCCCCGCC	0.697																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(112-114)ggC>ggG		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							14.0	14.0	14.0					12																	98987870		2197	4292	6489	SO:0001819	synonymous_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98987870C>G		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.114C>G	12.37:g.98987870C>G						SLC25A3_ENST00000551917.1_Silent_p.G38G|SLC25A3_ENST00000551265.1_Silent_p.G38G|SLC25A3_ENST00000549338.1_Silent_p.G38G|SLC25A3_ENST00000548847.1_Silent_p.G38G|SLC25A3_ENST00000552981.1_Silent_p.G38G|SLC25A3_ENST00000547534.1_Silent_p.G38G|SLC25A3_ENST00000228318.3_Silent_p.G38G|SLC25A3_ENST00000401722.3_Silent_p.G38G	p.G38G	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	1	468	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	38					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.114C>G	CCDS9066.1																																																																																				0.697	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		14	31	0	0	0	1	0	14	31				
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7578291T>G	ENST00000269305.4	-	6	749		c.e6-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron	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						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGCCAGACCTAAGAGCAATC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		30	Unknown(16)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(7)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|liver(3)|central_nervous_system(2)|breast(2)|thyroid(1)|stomach(1)|kidney(1)|urinary_tract(1)|oesophagus(1)|ovary(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	CS941545	TP53	S		c.e6-2	Other conserved DNA damage response genes	tumor protein p53							80.0	72.0	75.0					17																	7578291		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578291T>G	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.560-2A>C	17.37:g.7578291T>G		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_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site		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	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.608	0.888339	0.17540	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9475	0.47310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519016	0.998000	0.40836	0.996000	0.52242	0.034000	0.12701	2.807000	0.47955	1.912000	0.55364	0.460000	0.39030	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	58	6	0	0	0	1	0	58	6				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	60	0	0	0	1	0	4	60				
KLRB1	3820	broad.mit.edu	37	12	9760429	9760429	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:9760429G>T	ENST00000229402.3	-	1	53	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	3					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						ATTGCTTGTTGGTCCATGGCA	0.438																																						ENST00000229402.3																			0				endometrium(2)|large_intestine(6)|lung(4)	12						c.(7-9)Caa>Aaa		killer cell lectin-like receptor subfamily B, member 1							202.0	157.0	172.0					12																	9760429		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9760429G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.7C>A	12.37:g.9760429G>T	ENSP00000229402:p.Gln3Lys						p.Q3K	NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN			1	53	-			3					Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.7C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	2.143	-0.396223	0.04899	.	.	ENSG00000111796	ENST00000229402	T	0.02103	4.45	2.89	-1.31	0.09230	.	1.879010	0.03438	N	0.208888	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.42396	-0.9454	10	0.06494	T	0.89	1.7997	5.0798	0.14651	0.0:0.1345:0.5318:0.3336	.	3	Q12918	KLRB1_HUMAN	K	3	ENSP00000229402:Q3K	ENSP00000229402:Q3K	Q	-	1	0	KLRB1	9651696	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-1.490000	0.02304	-0.272000	0.09259	-0.467000	0.05162	CAA		0.438	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		42	81	1	0	8.01111e-26	1	9.23503e-26	42	81				
USP10	9100	broad.mit.edu	37	16	84801887	84801887	+	Missense_Mutation	SNP	C	C	T	rs377254205		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:84801887C>T	ENST00000219473.7	+	11	2034	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP10_ENST00000570191.1_Missense_Mutation_p.R645C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	641	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGACAAGATACGCACAGTCCA	0.428																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1921-1923)Cgc>Tgc		ubiquitin specific peptidase 10		C	CYS/ARG	1,3809		0,1,1904	36.0	33.0	34.0		1921	5.5	0.9	16		34	0,8246		0,0,4123	no	missense	USP10	NM_005153.2	180	0,1,6027	TT,TC,CC		0.0,0.0262,0.0083	benign	641/799	84801887	1,12055	1905	4123	6028	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84801887C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1921C>T	16.37:g.84801887C>T	ENSP00000219473:p.Arg641Cys					USP10_ENST00000570191.1_Missense_Mutation_p.R645C	p.R641C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			11	2034	+			641					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1921C>T	CCDS45537.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083157|3.083157	0.55861|0.55861	2.62E-4|2.62E-4	0.0|0.0	ENSG00000103194|ENSG00000103194	ENST00000219473|ENST00000397953	T|.	0.29142|.	1.58|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.053824|.	0.85682|.	D|.	0.000000|.	T|T	0.57770|0.57770	0.2076|0.2076	N|N	0.17901|0.17901	0.54|0.54	0.80722|0.80722	D|D	1|1	B;B|.	0.31174|.	0.311;0.043|.	B;B|.	0.22152|.	0.038;0.035|.	T|T	0.62383|0.62383	-0.6866|-0.6866	10|6	0.40728|0.87932	T|D	0.16|0	-18.9364|-18.9364	18.7737|18.7737	0.91901|0.91901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	645;641|.	Q14694-3;Q14694|.	.;UBP10_HUMAN|.	C|M	641|202	ENSP00000219473:R641C|.	ENSP00000219473:R641C|ENSP00000381044:T202M	R|T	+|+	1|2	0|0	USP10|USP10	83359388|83359388	1.000000|1.000000	0.71417|0.71417	0.878000|0.878000	0.34440|0.34440	0.591000|0.591000	0.36615|0.36615	7.322000|7.322000	0.79097|0.79097	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.428	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			10	7	0	0	0	1	0	10	7				
ASB5	140458	broad.mit.edu	37	4	177190223	177190223	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:177190223G>T	ENST00000296525.3	-	1	150	c.37C>A	c.(37-39)Caa>Aaa	p.Q13K		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	13					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGGATAATTGTTGAGCAAAC	0.423																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(37-39)Caa>Aaa		ankyrin repeat and SOCS box containing 5							93.0	88.0	90.0					4																	177190223		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190223G>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.37C>A	4.37:g.177190223G>T	ENSP00000296525:p.Gln13Lys						p.Q13K	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	150	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	13					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.37C>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092338	0.55968	.	.	ENSG00000164122	ENST00000296525;ENST00000505299	T	0.39056	1.1	5.57	5.57	0.84162	.	0.060403	0.64402	D	0.000002	T	0.32285	0.0824	L	0.36672	1.1	0.80722	D	1	P	0.39282	0.666	B	0.31869	0.137	T	0.09422	-1.0675	10	0.13853	T	0.58	-20.5972	19.5657	0.95391	0.0:0.0:1.0:0.0	.	13	Q8WWX0	ASB5_HUMAN	K	13	ENSP00000296525:Q13K	ENSP00000296525:Q13K	Q	-	1	0	ASB5	177427217	1.000000	0.71417	0.988000	0.46212	0.840000	0.47671	6.518000	0.73764	2.630000	0.89119	0.591000	0.81541	CAA		0.423	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			28	40	1	0	3.73148e-12	1	3.92041e-12	28	40				
AHNAK	79026	broad.mit.edu	37	11	62293798	62293798	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:62293798C>A	ENST00000378024.4	-	5	8365	c.8091G>T	c.(8089-8091)atG>atT	p.M2697I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2697					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCTGGCATCTTGAACT	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8089-8091)atG>atT		AHNAK nucleoprotein							189.0	186.0	187.0					11																	62293798		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293798C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8091G>T	11.37:g.62293798C>A	ENSP00000367263:p.Met2697Ile					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M2697I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8365	-		Melanoma(852;0.155)	2697					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8091G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	15.65	2.897126	0.52121	.	.	ENSG00000124942	ENST00000378024	T	0.01527	4.8	4.61	4.61	0.57282	.	.	.	.	.	T	0.13500	0.0327	M	0.93150	3.385	0.37700	D	0.924161	P	0.50156	0.932	P	0.60236	0.871	T	0.20140	-1.0284	9	0.36615	T	0.2	-18.8369	17.1379	0.86744	0.0:1.0:0.0:0.0	.	2697	Q09666	AHNK_HUMAN	I	2697	ENSP00000367263:M2697I	ENSP00000367263:M2697I	M	-	3	0	AHNAK	62050374	0.995000	0.38212	1.000000	0.80357	0.671000	0.39405	0.920000	0.28705	2.122000	0.65172	0.473000	0.43528	ATG		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		145	77	1	0	5.4523e-64	1	6.46487e-64	145	77				
HIVEP3	59269	broad.mit.edu	37	1	41984100	41984100	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:41984100C>G	ENST00000372583.1	-	7	6328	c.5443G>C	c.(5443-5445)Gtg>Ctg	p.V1815L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1815L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1815L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.V1815L|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1815					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCCAGCACCCCTGTCTCT	0.522																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5443-5445)Gtg>Ctg		human immunodeficiency virus type I enhancer binding protein 3							174.0	145.0	155.0					1																	41984100		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41984100C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5443G>C	1.37:g.41984100C>G	ENSP00000361664:p.Val1815Leu					HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1815L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V1815L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1815L	p.V1815L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			6	6457	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1815					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5443G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547596	0.45383	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	3.81	2.83	0.33086	.	0.200890	0.24920	N	0.034547	T	0.06325	0.0163	N	0.17838	0.53	0.31031	N	0.717404	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.06789	-1.0807	10	0.44086	T	0.13	-5.259	13.092	0.59171	0.0:0.7309:0.2691:0.0	.	1815;1815	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1815	ENSP00000361665:V1815L;ENSP00000361664:V1815L;ENSP00000247584:V1815L;ENSP00000410828:V1815L	ENSP00000247584:V1815L	V	-	1	0	HIVEP3	41756687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.617000	0.54181	1.955000	0.56771	0.655000	0.94253	GTG		0.522	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		42	74	0	0	0	1	0	42	74				
TTN	7273	broad.mit.edu	37	2	179597447	179597447	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:179597447T>G	ENST00000591111.1	-	54	15616		c.e54-2		TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			TGGGTGGTTCTGAAGAAGGGG	0.398																																						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.e56-2		titin							40.0	39.0	39.0					2																	179597447		1838	4085	5923	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597447T>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.15392-2A>C	2.37:g.179597447T>G						TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron		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)		56	16567	-								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	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	T	19.40	3.820053	0.71028	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179305692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	10	10	0	0	0	1	0	10	10				
CACNA1H	8912	broad.mit.edu	37	16	1271916	1271916	+	IGR	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:1271916G>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.P280S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGAGCCTGGGGTACCCAGAC	0.652																																						ENST00000234798.4																			0				liver(1)|lung(2)|skin(1)	4						c.(838-840)Ccc>Tcc		tryptase gamma 1							32.0	41.0	38.0					16																	1271916		2194	4299	6493	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1271916G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271916G>A							p.P280S	NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN			6	842	-		Hepatocellular(780;0.00369)	280					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.838C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.576389	0.45902	.	.	ENSG00000116176	ENST00000234798	D	0.87256	-2.23	3.97	-5.37	0.02681	.	.	.	.	.	T	0.71239	0.3316	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.55617	-0.8113	9	0.37606	T	0.19	.	5.3689	0.16129	0.1016:0.1043:0.6171:0.177	.	280	Q9NRR2	TRYG1_HUMAN	S	280	ENSP00000234798:P280S	ENSP00000234798:P280S	P	-	1	0	TPSG1	1211917	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.684000	0.25364	-0.691000	0.05135	0.580000	0.79431	CCC		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		20	20	0	0	0	1	0	20	20				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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)	p.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	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.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	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.chr3:178936091G>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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	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)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			37	4	0	0	0	1	0	37	4				
PRAF2	11230	broad.mit.edu	37	X	48929638	48929638	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:48929638G>A	ENST00000376390.4	-	3	510	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000553851.1_Missense_Mutation_p.R257C|AF196779.12_ENST00000376358.3_Missense_Mutation_p.R257C	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	143					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						TTAAGGTTGCGCAGGCGCAAC	0.602																																						ENST00000376390.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(427-429)Cgc>Tgc		PRA1 domain family, member 2							96.0	68.0	77.0					X																	48929638		2203	4300	6503	SO:0001583	missense	11230							g.chrX:48929638G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.427C>T	X.37:g.48929638G>A	ENSP00000365570:p.Arg143Cys					WDR45_ENST00000376358.3_Missense_Mutation_p.R257C|WDR45_ENST00000553851.1_Missense_Mutation_p.R257C|PRAF2_ENST00000491199.1_5'UTR	p.R143C	NM_007213.1	NP_009144.1					3	510	-								B2RD20	Missense_Mutation	SNP	ENST00000376390.4	37	c.427C>T	CCDS14317.1	.	.	.	.	.	.	.	.	.	.	.	18.00	3.524881	0.64747	.	.	ENSG00000243279;ENSG00000196998;ENSG00000250232	ENST00000376390;ENST00000553851;ENST00000376358	T;T;T	0.49432	0.78;0.78;0.78	3.98	2.06	0.26882	.	0.000000	0.64402	D	0.000005	T	0.46328	0.1387	M	0.85197	2.74	0.80722	D	1	P;B	0.39250	0.665;0.441	B;B	0.34722	0.188;0.118	T	0.46105	-0.9215	10	0.87932	D	0	-21.5501	7.0094	0.24853	0.102:0.0:0.722:0.1761	.	257;143	A6NM71;O60831	.;PRAF2_HUMAN	C	143;257;257	ENSP00000365570:R143C;ENSP00000451962:R257C;ENSP00000365536:R257C	ENSP00000365536:R257C	R	-	1	0	PRAF2;AF196779.12;WDR45	48816582	1.000000	0.71417	0.995000	0.50966	0.347000	0.29111	3.930000	0.56522	0.235000	0.21160	0.540000	0.68198	CGC		0.602	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		26	34	0	0	0	1	0	26	34				
HEPH	9843	broad.mit.edu	37	X	65418862	65418862	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:65418862G>A	ENST00000343002.2	+	10	2520	c.1856G>A	c.(1855-1857)cGg>cAg	p.R619Q	HEPH_ENST00000441993.2_Missense_Mutation_p.R622Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R622Q|HEPH_ENST00000519389.1_Missense_Mutation_p.R673Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R352Q|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	619	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTCCAATCGGATGCATGGT	0.448																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2017-2019)cGg>cAg		hephaestin							142.0	129.0	133.0					X																	65418862		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65418862G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1856G>A	X.37:g.65418862G>A	ENSP00000343939:p.Arg619Gln					HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.R622Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R622Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R352Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R619Q	p.R673Q			Q9BQS7	HEPH_HUMAN			11	2197	+			619			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2018G>A		.	.	.	.	.	.	.	.	.	.	G	11.21	1.570611	0.28003	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	4.92	-1.19	0.09585	Cupredoxin (2);	0.457206	0.21100	N	0.080164	D	0.95822	0.8640	L	0.49571	1.57	0.28574	N	0.910492	B;B	0.18610	0.029;0.003	B;B	0.11329	0.002;0.006	D	0.89090	0.3482	10	0.19147	T	0.46	.	10.0962	0.42478	0.6653:0.0:0.3347:0.0	.	673;619	E9PHN8;Q9BQS7	.;HEPH_HUMAN	Q	673;622;352;622;619;576	ENSP00000430620:R673Q;ENSP00000363859:R622Q;ENSP00000337418:R352Q;ENSP00000411687:R622Q;ENSP00000343939:R619Q;ENSP00000398078:R576Q	ENSP00000337418:R352Q	R	+	2	0	HEPH	65335587	0.637000	0.27216	0.990000	0.47175	0.659000	0.38960	-0.013000	0.12678	-0.254000	0.09500	0.415000	0.27848	CGG		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		42	47	0	0	0	1	0	42	47				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																0							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	38	0	0	0	1	0	4	38				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	46	0	0	0	1	0	4	46				
CDK11A	728642	broad.mit.edu	37	1	1650844	1650844	+	Missense_Mutation	SNP	C	C	T	rs200755605	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:1650844C>T	ENST00000378633.1	-	4	357	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	CDK11A_ENST00000404249.3_Missense_Mutation_p.R93Q|CDK11A_ENST00000358779.5_Missense_Mutation_p.R93Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.R59Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.R93Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000356200.3_Missense_Mutation_p.R59Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.R93Q			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	93	Glu-rich.		R -> W (in dbSNP:rs1059831). {ECO:0000269|PubMed:16710414, ECO:0000269|PubMed:9750192}.		apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTTTTCTTTCCGAGACATTTG	0.398													-|||	4	0.000798722	0.0023	0.0014	5008	,	,		18480	0.0		0.0	False		,,,				2504	0.0				Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(175-177)cGg>cAg		cyclin-dependent kinase 11A		C	GLN/ARG,GLN/ARG	9,3769		0,9,1880	239.0	226.0	230.0		278,278	5.3	1.0	1		230	1,8229		0,1,4114	no	missense,missense	CDK11A	NM_024011.2,NM_033529.2	43,43	0,10,5994	TT,TC,CC		0.0122,0.2382,0.0833	probably-damaging,probably-damaging	93/781,93/771	1650844	10,11998	1889	4115	6004	SO:0001583	missense	728642							g.chr1:1650844C>T	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.278G>A	1.37:g.1650844C>T	ENSP00000367900:p.Arg93Gln					CDK11A_ENST00000357760.2_Missense_Mutation_p.R93Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.R93Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.R93Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.R59Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.R93Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.R93Q	p.R59Q							3	410	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.176G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	31	5.075609	0.94000	0.002382	1.22E-4	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.05786	3.39;3.97;3.67;3.67;3.39;3.39;3.39;3.39	5.3	5.3	0.74995	.	0.404062	0.20996	U	0.081957	T	0.17066	0.0410	L	0.32530	0.975	0.38027	D	0.935056	D;D;D;D;D;P;D;D;D;D;D	0.89917	0.995;1.0;0.999;0.998;1.0;0.935;0.998;1.0;1.0;0.974;1.0	P;P;D;D;D;B;D;D;D;B;D	0.85130	0.636;0.846;0.91;0.945;0.982;0.288;0.96;0.997;0.994;0.374;0.982	T	0.06320	-1.0833	10	0.34782	T	0.22	.	17.9833	0.89148	0.0:1.0:0.0:0.0	.	93;93;93;93;93;93;59;93;93;59;93	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	Q	59;93;93;93;93;59;59;93;93	ENSP00000348529:R59Q;ENSP00000384442:R93Q;ENSP00000350403:R93Q;ENSP00000351629:R93Q;ENSP00000367900:R93Q;ENSP00000367905:R59Q;ENSP00000367902:R93Q;ENSP00000423900:R93Q	ENSP00000348529:R59Q	R	-	2	0	CDK11A	1640704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.228000	0.65310	2.462000	0.83206	0.655000	0.94253	CGG		0.398	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		94	172	0	0	0	1	0	94	172				
TIGD5	84948	broad.mit.edu	37	8	144681482	144681482	+	Missense_Mutation	SNP	C	C	T	rs370572958		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:144681482C>T	ENST00000504548.2	+	1	1409	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A421V|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000419152.2_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	470	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGGTGCAGGCGGGCAGCATT	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		13984	0.001		0.0	False		,,,				2504	0.0					ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1408-1410)gCg>gTg		tigger transposable element derived 5		C	VAL/ALA	0,4344		0,0,2172	14.0	15.0	15.0		1409	3.4	1.0	8		15	1,8541		0,1,4270	no	missense	TIGD5	NM_032862.4	64	0,1,6442	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	470/643	144681482	1,12885	2172	4271	6443	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681482C>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1409C>T	8.37:g.144681482C>T	ENSP00000421489:p.Ala470Val					TIGD5_ENST00000321385.3_Missense_Mutation_p.A421V	p.A470V	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1409	+	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)		470					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1409C>T	CCDS6406.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.080351|4.080351	0.76528|0.76528	0.0|0.0	1.17E-4|1.17E-4	ENSG00000104529|ENSG00000179886	ENST00000533749|ENST00000504548;ENST00000321385	.|T;T	.|0.41758	.|0.99;0.99	4.3|4.3	3.43|3.43	0.39272|0.39272	.|.	0.108809|0.108809	0.38326|0.38326	U|U	0.001723|0.001723	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.22421|0.22421	0.69|0.69	0.26673|0.26673	N|N	0.971697|0.971697	.|B	.|0.33612	.|0.419	.|B	.|0.23574	.|0.047	T|T	0.09840|0.09840	-1.0656|-1.0656	7|10	0.39692|0.42905	T|T	0.17|0.14	.|.	11.0796|11.0796	0.48051|0.48051	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	.|421	.|Q53EQ6	.|TIGD5_HUMAN	T|V	4|470;421	.|ENSP00000421489:A470V;ENSP00000315906:A421V	ENSP00000431933:A4T|ENSP00000315906:A421V	A|A	-|+	1|2	0|0	EEF1D|TIGD5	144752625|144752625	0.996000|0.996000	0.38824|0.38824	0.962000|0.962000	0.40283|0.40283	0.983000|0.983000	0.72400|0.72400	5.568000|5.568000	0.67385|0.67385	0.788000|0.788000	0.33755|0.33755	0.655000|0.655000	0.94253|0.94253	GCC|GCG		0.706	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		11	17	0	0	0	1	0	11	17				
TRMT2B	79979	broad.mit.edu	37	X	100278581	100278581	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:100278581A>G	ENST00000372936.3	-	8	1406	c.634T>C	c.(634-636)Tct>Cct	p.S212P	TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167P|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000338687.7_Missense_Mutation_p.S167P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212P	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212						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						TCCAATGGAGACTGTCGAAGG	0.443																																						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.(499-501)Tct>Cct		tRNA methyltransferase 2 homolog B (S. cerevisiae)							109.0	87.0	94.0					X																	100278581		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100278581A>G	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.634T>C	X.37:g.100278581A>G	ENSP00000362027:p.Ser212Pro					TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212P|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212P	p.S167P			Q96GJ1	TRM2_HUMAN			7	1304	-			212					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.499T>C	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707207	0.68615	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.52983	0.73;0.64;0.73;0.64;0.64;0.64	4.69	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.84219	2.685	0.53688	D	0.999973	D;P;D	0.89917	1.0;0.949;0.997	D;P;D	0.76575	0.988;0.596;0.947	T	0.62431	-0.6856	10	0.39692	T	0.17	-0.9453	7.9855	0.30210	0.6766:0.0:0.0:0.3234	.	167;212;212	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	P	167;212;167;212;212;212	ENSP00000340970:S167P;ENSP00000438134:S212P;ENSP00000362030:S167P;ENSP00000362026:S212P;ENSP00000362027:S212P;ENSP00000362022:S212P	ENSP00000340970:S167P	S	-	1	0	TRMT2B	100165237	1.000000	0.71417	0.328000	0.25416	0.989000	0.77384	5.438000	0.66550	0.566000	0.29273	0.381000	0.24937	TCT		0.443	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		32	26	0	0	0	1	0	32	26				
EFNB3	1949	broad.mit.edu	37	17	7611523	7611523	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7611523C>G	ENST00000226091.2	+	2	767	c.370C>G	c.(370-372)Ctc>Gtc	p.L124V		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	124	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TAGCCCTAATCTCTGGGGCCA	0.577																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(370-372)Ctc>Gtc		ephrin-B3							68.0	65.0	66.0					17																	7611523		2203	4300	6503	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7611523C>G	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.370C>G	17.37:g.7611523C>G	ENSP00000226091:p.Leu124Val						p.L124V	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			2	767	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	124					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.370C>G	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.981453	0.34942	.	.	ENSG00000108947	ENST00000226091	D	0.95171	-3.63	4.85	2.8	0.32819	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.64402	D	0.000005	D	0.95274	0.8467	M	0.65498	2.005	0.32925	D	0.516415	D	0.57571	0.98	P	0.61477	0.889	D	0.95228	0.8340	10	0.66056	D	0.02	-18.1593	8.2302	0.31593	0.0:0.7419:0.0:0.2581	.	124	Q15768	EFNB3_HUMAN	V	124	ENSP00000226091:L124V	ENSP00000226091:L124V	L	+	1	0	EFNB3	7552248	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	1.730000	0.38125	1.256000	0.44068	0.472000	0.43445	CTC		0.577	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		44	115	0	0	0	1	0	44	115				
RAD9A	5883	broad.mit.edu	37	11	67164804	67164804	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:67164804G>C	ENST00000307980.2	+	10	1120	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR|PPP1CA_ENST00000532446.1_5'Flank	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	343	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCACTCCGAGGAGGAAGATGA	0.642								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(1027-1029)Gag>Cag	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							17.0	19.0	19.0					11																	67164804		2192	4294	6486	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67164804G>C	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.1027G>C	11.37:g.67164804G>C	ENSP00000311360:p.Glu343Gln					RAD9A_ENST00000535644.1_3'UTR	p.E343Q	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		10	1120	+			343			Sufficient for interaction with ABL1.		B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.1027G>C	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575474	0.28092	.	.	ENSG00000172613	ENST00000307980	T	0.15372	2.43	4.92	3.96	0.45880	.	0.226724	0.44285	D	0.000478	T	0.11153	0.0272	L	0.29908	0.895	0.24587	N	0.993844	P	0.45348	0.856	B	0.38803	0.282	T	0.20538	-1.0272	10	0.18276	T	0.48	.	11.8151	0.52204	0.0:0.0:0.8251:0.1749	.	343	Q99638	RAD9A_HUMAN	Q	343	ENSP00000311360:E343Q	ENSP00000311360:E343Q	E	+	1	0	RAD9A	66921380	1.000000	0.71417	0.993000	0.49108	0.598000	0.36846	3.697000	0.54764	2.272000	0.75746	0.462000	0.41574	GAG		0.642	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		4	12	0	0	0	1	0	4	12				
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A	rs200955532		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:141625828G>A	ENST00000389484.3	-	26	5145	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1392					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAGAAAAGAATTCTaaaa	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4174-4176)Ctt>Ttt		low density lipoprotein receptor-related protein 1B							38.0	38.0	38.0					2																	141625828		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625828G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4174C>T	2.37:g.141625828G>A	ENSP00000374135:p.Leu1392Phe	TSP Lung(27;0.18)					p.L1392F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5145	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1392					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4174C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360608	0.95877	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97870	-4.58;-4.58	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.98975	0.9651	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99402	1.0928	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	575;1392	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	F	1392;1330;537	ENSP00000374135:L1392F;ENSP00000413239:L537F	ENSP00000374135:L1392F	L	-	1	0	LRP1B	141342298	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.886000	0.87288	2.770000	0.95276	0.655000	0.94253	CTT		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	23	0	0	0	1	0	7	23				
ZMYM6	9204	broad.mit.edu	37	1	35476601	35476601	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:35476601C>T	ENST00000357182.4	-	9	1326	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367T|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367T	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	367					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGGGCACCGCCGAAGAGTTT	0.458																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1099-1101)Gcg>Acg		zinc finger, MYM-type 6							52.0	53.0	53.0					1																	35476601		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476601C>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1099G>A	1.37:g.35476601C>T	ENSP00000349708:p.Ala367Thr					ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367T|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367T|ZMYM6_ENST00000493328.1_5'UTR	p.A367T	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			9	1326	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	367					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1099G>A	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914110	0.33815	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22134	1.97;3.14	5.2	4.26	0.50523	.	0.649416	0.15854	N	0.241338	T	0.09512	0.0234	N	0.08118	0	0.24208	N	0.995483	P;B;B	0.39665	0.682;0.325;0.27	B;B;B	0.31946	0.115;0.097;0.138	T	0.13388	-1.0511	10	0.09590	T	0.72	-7.0E-4	15.1397	0.72601	0.1465:0.8535:0.0:0.0	.	270;367;367	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	T	367	ENSP00000362437:A367T;ENSP00000349708:A367T	ENSP00000349708:A367T	A	-	1	0	ZMYM6	35249188	0.056000	0.20664	0.231000	0.23993	0.651000	0.38670	2.434000	0.44802	1.495000	0.48549	0.655000	0.94253	GCG		0.458	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		20	43	0	0	0	1	0	20	43				
ECE2	9718	broad.mit.edu	37	3	183995214	183995214	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:183995214C>T	ENST00000402825.3	+	4	792	c.792C>T	c.(790-792)agC>agT	p.S264S	ECE2_ENST00000404464.3_Silent_p.S146S|ECE2_ENST00000357474.5_Silent_p.S192S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.S117S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	264	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTTCAACAGCCTCTGGGACC	0.612																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(790-792)agC>agT		endothelin converting enzyme 2							48.0	46.0	46.0					3																	183995214		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995214C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.792C>T	3.37:g.183995214C>T						ECE2_ENST00000357474.5_Silent_p.S192S|ECE2_ENST00000404464.3_Silent_p.S146S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.S117S	p.S264S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	792	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		264			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.792C>T	CCDS3256.2																																																																																				0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		17	45	0	0	0	1	0	17	45				
PCDHA11	56138	broad.mit.edu	37	5	140250487	140250487	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:140250487C>T	ENST00000398640.2	+	1	1799	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGGACTCAGGCTACAAC	0.662																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1798-1800)tCa>tTa									73.0	84.0	81.0					5																	140250487		2203	4299	6502	SO:0001583	missense	0							g.chr5:140250487C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1799C>T	5.37:g.140250487C>T	ENSP00000381636:p.Ser600Leu					PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.S600L	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1799	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1799C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271399	0.40194	.	.	ENSG00000249158	ENST00000398640	T	0.49432	0.78	4.78	4.78	0.61160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69513	0.3119	M	0.80746	2.51	0.28328	N	0.9219	D;D	0.89917	1.0;0.997	D;D	0.74023	0.982;0.964	T	0.65413	-0.6174	9	0.87932	D	0	.	13.6469	0.62288	0.1552:0.8448:0.0:0.0	.	600;600	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	600	ENSP00000381636:S600L	ENSP00000381636:S600L	S	+	2	0	PCDHA11	140230671	0.000000	0.05858	0.695000	0.30226	0.153000	0.21895	0.185000	0.16958	2.213000	0.71641	0.556000	0.70494	TCA		0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		140	16	0	0	0	1	0	140	16				
GOLGA2P9	440518	broad.mit.edu	37	19	22785247	22785247	+	RNA	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:22785247C>T	ENST00000599738.1	+	0	0				CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA|RN7SL860P_ENST00000473738.2_RNA																							GCCCCAGCCCCAGGGACTGGG	0.672																																						ENST00000600260.1																			0																																																			0							g.chr19:22785247C>T																													19.37:g.22785247C>T								NR_033899.1						0	1423	+									RNA	SNP	ENST00000599738.1	37																																																																																						0.672	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1			4	4	0	0	0	1	0	4	4				
NRAP	4892	broad.mit.edu	37	10	115402734	115402734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:115402734G>A	ENST00000359988.3	-	12	1418	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NRAP_ENST00000360478.3_Intron|NRAP_ENST00000369360.3_Intron|NRAP_ENST00000369358.4_Nonsense_Mutation_p.Q392*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCCTGAATTGAGGTGTTTCA	0.408																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1174-1176)Caa>Taa		nebulin-related anchoring protein							256.0	214.0	228.0					10																	115402734		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115402734G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1174C>T	10.37:g.115402734G>A	ENSP00000353078:p.Gln392*					NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q392*|NRAP_ENST00000369360.3_Intron|NRAP_ENST00000360478.3_Intron	p.Q392*			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	12	1418	-		Colorectal(252;0.0233)|Breast(234;0.188)	392						Nonsense_Mutation	SNP	ENST00000359988.3	37	c.1174C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	40	8.257318	0.98729	.	.	ENSG00000197893	ENST00000369358;ENST00000359988;ENST00000369350;ENST00000369343	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	392;392;121;121	.	ENSP00000353078:Q392X	Q	-	1	0	NRAP	115392724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.038000	0.93771	2.937000	0.99478	0.650000	0.86243	CAA		0.408	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		21	66	0	0	0	1	0	21	66				
ZBTB7B	51043	broad.mit.edu	37	1	154987608	154987608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:154987608C>T	ENST00000368426.3	+	3	609	c.472C>T	c.(472-474)Cga>Tga	p.R158*	ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.R192*|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.R158*	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	158					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGACTGTGAGCGAGCCCGCCA	0.637																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(472-474)Cga>Tga		zinc finger and BTB domain containing 7B							38.0	39.0	38.0					1																	154987608		2192	4276	6468	SO:0001587	stop_gained	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987608C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.472C>T	1.37:g.154987608C>T	ENSP00000357411:p.Arg158*					ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.R192*|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.R158*	p.R158*	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	609	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		158					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Nonsense_Mutation	SNP	ENST00000368426.3	37	c.472C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797842	0.90538	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	.	.	.	3.79	1.65	0.23941	.	0.492803	0.18148	N	0.150199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0223	0.42051	0.3723:0.6276:0.0:0.0	.	.	.	.	X	158;158;192;158	.	ENSP00000292176:R158X	R	+	1	2	ZBTB7B	153254232	0.996000	0.38824	1.000000	0.80357	0.979000	0.70002	0.934000	0.28910	0.796000	0.33947	-0.475000	0.04921	CGA		0.637	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		33	109	0	0	0	1	0	33	109				
RNF182	221687	broad.mit.edu	37	6	13977863	13977863	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:13977863G>T	ENST00000488300.1	+	3	1036	c.513G>T	c.(511-513)tgG>tgT	p.W171C	RNF182_ENST00000537663.1_Missense_Mutation_p.W171C|RNF182_ENST00000537388.1_Missense_Mutation_p.W171C|RNF182_ENST00000544682.1_Missense_Mutation_p.W171C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	171					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GGACTGTGTGGAACTGCACGT	0.517																																						ENST00000488300.1																			0				cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(511-513)tgG>tgT		ring finger protein 182							191.0	193.0	192.0					6																	13977863		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977863G>T	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.513G>T	6.37:g.13977863G>T	ENSP00000420465:p.Trp171Cys					RNF182_ENST00000537663.1_Missense_Mutation_p.W171C|RNF182_ENST00000537388.1_Missense_Mutation_p.W171C|RNF182_ENST00000544682.1_Missense_Mutation_p.W171C	p.W171C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	1036	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	171					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.513G>T	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269788	0.80469	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.97	4.97	0.65823	.	0.307818	0.38492	N	0.001666	D	0.89632	0.6771	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88214	0.2892	9	.	.	.	-19.5131	18.6106	0.91284	0.0:0.0:1.0:0.0	.	171	Q8N6D2	RN182_HUMAN	C	171	ENSP00000443228:W171C;ENSP00000420465:W171C;ENSP00000442021:W171C;ENSP00000441271:W171C	.	W	+	3	0	RNF182	14085842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.439000	0.80444	2.468000	0.83385	0.563000	0.77884	TGG		0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		51	144	1	0	9.22156e-22	1	1.04848e-21	51	144				
MGAM	8972	broad.mit.edu	37	7	141736712	141736712	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:141736712C>T	ENST00000549489.2	+	18	2261	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	MGAM_ENST00000475668.2_Silent_p.Y722Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	722	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTGCCCTACCTATACACCC	0.507																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2164-2166)taC>taT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						200.0	205.0	204.0					7																	141736712		2088	4216	6304	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736712C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2166C>T	7.37:g.141736712C>T						MGAM_ENST00000549489.2_Silent_p.Y722Y	p.Y722Y			O43451	MGA_HUMAN			18	2220	+	Melanoma(164;0.0272)		722			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.2166C>T	CCDS47727.1																																																																																				0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			94	44	0	0	0	1	0	94	44				
HHIP	64399	broad.mit.edu	37	4	145580958	145580958	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:145580958G>T	ENST00000296575.3	+	4	1454	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.D267Y|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	267					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCTTATTTGGACATTCACAA	0.363																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(799-801)Gac>Tac		hedgehog interacting protein							67.0	75.0	72.0					4																	145580958		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580958G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.799G>T	4.37:g.145580958G>T	ENSP00000296575:p.Asp267Tyr					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.D267Y|HHIP_ENST00000511314.1_3'UTR	p.D267Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1454	+	all_hematologic(180;0.151)		267					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.799G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151432	0.78001	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.61040	2.52;0.14	5.78	4.94	0.65067	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.80110	0.4563	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84681	0.0717	10	0.87932	D	0	-27.4229	14.5873	0.68335	0.0698:0.0:0.9302:0.0	.	267;267	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Y	267	ENSP00000296575:D267Y;ENSP00000408587:D267Y	ENSP00000296575:D267Y	D	+	1	0	HHIP	145800408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	1.451000	0.47736	0.555000	0.69702	GAC		0.363	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			60	55	1	0	8.4772e-36	1	9.90997e-36	60	55				
AKAP3	10566	broad.mit.edu	37	12	4737296	4737296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:4737296C>A	ENST00000545990.2	-	5	1296	c.772G>T	c.(772-774)Gga>Tga	p.G258*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G258*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	258					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAACCTTCCACCCTCTCTG	0.458																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(772-774)Gga>Tga		A kinase (PRKA) anchor protein 3							91.0	89.0	89.0					12																	4737296		2203	4300	6503	SO:0001587	stop_gained	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737296C>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.772G>T	12.37:g.4737296C>A	ENSP00000440994:p.Gly258*					AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G258*	p.G258*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1296	-			258					O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	c.772G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032617	0.75504	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	4.88	1.9	0.25705	.	0.593597	0.16197	N	0.225136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.0677	7.0682	0.25164	0.0:0.6084:0.0:0.3916	.	.	.	.	X	258	.	ENSP00000228850:G258X	G	-	1	0	AKAP3	4607557	0.012000	0.17670	0.015000	0.15790	0.011000	0.07611	0.916000	0.28651	0.287000	0.22375	-0.345000	0.07892	GGA		0.458	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		33	188	1	0	2.81731e-10	1	2.92296e-10	33	188				
NRK	203447	broad.mit.edu	37	X	105153215	105153215	+	Missense_Mutation	SNP	G	G	A	rs202127779		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:105153215G>A	ENST00000243300.9	+	13	1885	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	NRK_ENST00000428173.2_Missense_Mutation_p.E529K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	528	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGGTACCCGAACAACAAAG	0.552										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1585-1587)Gaa>Aaa		Nik related kinase							37.0	38.0	38.0					X																	105153215		1974	4144	6118	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153215G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1582G>A	X.37:g.105153215G>A	ENSP00000434830:p.Glu528Lys	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.E528K	p.E529K			Q7Z2Y5	NRK_HUMAN			13	1888	+			528			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1585G>A		.	.	.	.	.	.	.	.	.	.	G	11.60	1.685908	0.29962	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.28255	1.62;1.62	4.49	3.63	0.41609	.	0.251867	0.28527	N	0.015034	T	0.32763	0.0840	M	0.64404	1.975	0.58432	D	0.999999	D;P	0.60160	0.987;0.897	P;B	0.47206	0.541;0.122	T	0.07290	-1.0780	10	0.38643	T	0.18	.	7.4831	0.27417	0.1163:0.0:0.8837:0.0	.	196;528	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	K	528;529	ENSP00000434830:E528K;ENSP00000438378:E529K	ENSP00000434830:E528K	E	+	1	0	NRK	105039871	0.986000	0.35501	0.219000	0.23793	0.102000	0.19082	2.406000	0.44557	1.248000	0.43934	0.600000	0.82982	GAA		0.552	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		26	22	0	0	0	1	0	26	22				
KRTAP3-1	83896	broad.mit.edu	37	17	39165215	39165215	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:39165215G>T	ENST00000391588.1	-	1	151	c.112C>A	c.(112-114)Cat>Aat	p.H38N	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	38	4 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTGATCTCATGTGGGCAGGTG	0.602																																						ENST00000391588.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(112-114)Cat>Aat		keratin associated protein 3-1							96.0	86.0	89.0					17																	39165215		2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165215G>T	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.112C>A	17.37:g.39165215G>T	ENSP00000375430:p.His38Asn					KRTAP3-1_ENST00000581033.1_5'UTR	p.H38N	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN			1	151	-		Breast(137;0.00043)	38			4 X 5 AA repeats of C-C-X(3).		Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.112C>A	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121327	0.77436	.	.	ENSG00000212901	ENST00000391588	T	0.29397	1.57	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000092	T	0.57446	0.2054	.	.	.	0.39969	D	0.974762	D	0.62365	0.991	D	0.76575	0.988	T	0.61941	-0.6959	9	0.72032	D	0.01	-14.6086	15.43	0.75084	0.0:0.0:1.0:0.0	.	38	Q9BYR8	KRA31_HUMAN	N	38	ENSP00000375430:H38N	ENSP00000375430:H38N	H	-	1	0	KRTAP3-1	36418741	0.988000	0.35896	0.995000	0.50966	0.999000	0.98932	4.313000	0.59160	2.707000	0.92482	0.632000	0.83419	CAT		0.602	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			28	86	1	0	5.61819e-17	1	6.13565e-17	28	86				
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	419					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1255-1257)cGg>cAg		periplakin							82.0	65.0	71.0					16																	4944606		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944606C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1256G>A	16.37:g.4944606C>T	ENSP00000340510:p.Arg419Gln					PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	p.R419Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			12	1345	-			419					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1256G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407678	0.83340	.	.	ENSG00000118898	ENST00000345988	T	0.74842	-0.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	L	0.43923	1.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.82675	-0.0340	10	0.54805	T	0.06	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	419	O60437	PEPL_HUMAN	Q	419	ENSP00000340510:R419Q	ENSP00000340510:R419Q	R	-	2	0	PPL	4884607	1.000000	0.71417	0.861000	0.33841	0.385000	0.30292	7.182000	0.77689	2.756000	0.94617	0.561000	0.74099	CGG		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	35	0	0	0	1	0	24	35				
CCDC30	728621	broad.mit.edu	37	1	43021941	43021941	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:43021941A>C	ENST00000340612.4	+	4	540	c.540A>C	c.(538-540)aaA>aaC	p.K180N	CCDC30_ENST00000428554.2_Missense_Mutation_p.K180N|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.K180N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	180						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATATGAAAGATGAAGAAA	0.443																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(538-540)aaA>aaC		coiled-coil domain containing 30							83.0	77.0	79.0					1																	43021941		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43021941A>C	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.540A>C	1.37:g.43021941A>C	ENSP00000340378:p.Lys180Asn					CCDC30_ENST00000342022.4_Missense_Mutation_p.K180N|CCDC30_ENST00000340612.4_Missense_Mutation_p.K180N|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron	p.K180N			Q5VVM6	CCD30_HUMAN			12	1683	+			180					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.540A>C	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	6.737	0.504841	0.12822	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.47177	0.85;0.85;0.85	5.52	-3.15	0.05233	.	1.054350	0.07249	N	0.865632	T	0.20981	0.0505	N	0.12182	0.205	0.09310	N	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.17592	-1.0364	10	0.18276	T	0.48	.	0.9533	0.01380	0.334:0.2663:0.2562:0.1435	.	180	Q5VVM6	CCD30_HUMAN	N	180	ENSP00000397035:K180N;ENSP00000340378:K180N;ENSP00000339280:K180N	ENSP00000340378:K180N	K	+	3	2	CCDC30	42794528	0.001000	0.12720	0.008000	0.14137	0.364000	0.29643	0.096000	0.15147	-0.181000	0.10619	0.460000	0.39030	AAA		0.443	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		24	16	0	0	0	1	0	24	16				
CELSR2	1952	broad.mit.edu	37	1	109793392	109793394	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:109793392_109793394delTTC	ENST00000271332.3	+	1	752_754	c.691_693delTTC	c.(691-693)ttcdel	p.F232del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	232	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCAACCAGTTCTTCTCCCTGG	0.616																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(691-693)del		cadherin, EGF LAG seven-pass G-type receptor 2																																				SO:0001651	inframe_deletion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793392_109793394delTTC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.691_693delTTC	1.37:g.109793395_109793397delTTC	ENSP00000271332:p.Phe232del						p.F232del	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	752_754	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	232			Cadherin 1.		Q5T2Y7|Q92566	In_Frame_Del	DEL	ENST00000271332.3	37	c.691_693delTTC	CCDS796.1																																																																																				0.616	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		18	38						18	38	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:65150817delC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCATCCCTCACCCCCCCCCCC	0.468																																						ENST00000430126.2																			0																																																			0							g.chr7:65150817delC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150817delC														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.468	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	9						4	9	---	---	---	---
RMDN1	51115	broad.mit.edu	37	8	87498823	87498824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:87498823_87498824insT	ENST00000406452.3	-	4	543_544	c.384_385insA	c.(382-387)gtagctfs	p.A129fs	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.A129fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.A85fs|RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.A129fs	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	129						microtubule (GO:0005874)|mitochondrion (GO:0005739)											CTAAGCTGAGCTACATCACGTG	0.371																																						ENST00000406452.3																			0											c.(382-387)gtctcafs		regulator of microtubule dynamics 1																																				SO:0001589	frameshift_variant	51115							g.chr8:87498823_87498824insT	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.385dupA	8.37:g.87498824_87498824dupT	ENSP00000385927:p.Ala129fs					RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.S129fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.S85fs|RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.S129fs|CPNE3_ENST00000198765.4_Intron	p.S129fs	NM_016033.2	NP_057117.2					4	543_544	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Ins	INS	ENST00000406452.3	37	c.384_385insA	CCDS34918.1																																																																																				0.371	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		25	40						25	40	---	---	---	---
ATE1	11101	broad.mit.edu	37	10	123503221	123503236	+	Frame_Shift_Del	DEL	CGGAGCACTTCTGCCC	CGGAGCACTTCTGCCC	-	rs146965571	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	ENST00000224652.6	-	12	1601_1616	c.1516_1531delGGGCAGAAGTGCTCCG	c.(1516-1533)gggcagaagtgctccgagfs	p.GQKCSE506fs	ATE1_ENST00000369043.3_Frame_Shift_Del_p.GQKCSE506fs|ATE1_ENST00000369040.3_Frame_Shift_Del_p.GQKCSE410fs|ATE1_ENST00000540606.1_Frame_Shift_Del_p.GQKCSE499fs|ATE1_ENST00000543447.1_Frame_Shift_Del_p.GQKCSE391fs|ATE1_ENST00000535655.1_Frame_Shift_Del_p.GQKCSE207fs	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	506					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGCATCCGCTCGGAGCACTTCTGCCCCACCAGGCTG	0.519																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1516-1533)agfs		arginyltransferase 1																																				SO:0001589	frameshift_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1516_1531delGGGCAGAAGTGCTCCG	10.37:g.123503221_123503236delCGGAGCACTTCTGCCC	ENSP00000224652:p.Gly506fs					ATE1_ENST00000369040.3_Frame_Shift_Del_p.GQKCSE410fs|ATE1_ENST00000535655.1_Frame_Shift_Del_p.GQKCSE207fs|ATE1_ENST00000224652.6_Frame_Shift_Del_p.GQKCSE506fs|ATE1_ENST00000540606.1_Frame_Shift_Del_p.GQKCSE499fs|ATE1_ENST00000543447.1_Frame_Shift_Del_p.GQKCSE391fs	p.GQKCSE506fs	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			12	1602_1617	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	506					O95261|Q5SQQ3|Q8WW04	Frame_Shift_Del	DEL	ENST00000224652.6	37	c.1516_1531delGGGCAGAAGTGCTCCG	CCDS31300.1																																																																																				0.519	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		14	50						14	50	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	301						7	301	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58064624	58064624	+	lincRNA	DEL	T	T	-	rs544627779	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:58064624delT	ENST00000586209.1	+	0	158																											ttTTTTGGTGTTTTTtttttt	0.353													|||unknown(HR)	1149	0.229433	0.2489	0.2738	5008	,	,		14499	0.2321		0.2396	False		,,,				2504	0.1585					ENST00000586209.1																			0																																																			0							g.chr17:58064624delT																													17.37:g.58064624delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.353	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	3						3	3	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	8						8	8	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		8	150						8	150	---	---	---	---
