#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
FN1	2335	broad.mit.edu	37	2	216238117	216238117	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:216238117C>T	ENST00000359671.1	-	38	6167	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K	FN1_ENST00000356005.4_Missense_Mutation_p.E1878K|FN1_ENST00000354785.4_Missense_Mutation_p.E2059K|FN1_ENST00000336916.4_Missense_Mutation_p.E1968K|FN1_ENST00000432072.2_Missense_Mutation_p.E1969K|FN1_ENST00000346544.3_Missense_Mutation_p.E1968K|FN1_ENST00000323926.6_Missense_Mutation_p.E2059K|FN1_ENST00000357009.2_Missense_Mutation_p.E1968K|FN1_ENST00000421182.1_Missense_Mutation_p.E1878K|FN1_ENST00000345488.5_Missense_Mutation_p.E1968K|FN1_ENST00000357867.4_Missense_Mutation_p.E1878K|FN1_ENST00000446046.1_Missense_Mutation_p.E1968K|FN1_ENST00000443816.1_Missense_Mutation_p.E1878K			P02751	FINC_HUMAN	fibronectin 1	1968	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E1968K(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATTGTATATTCGGTTCCCGGT	0.468																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.E1968K(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6175-6177)Gaa>Aaa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149.0	149.0	149.0					2																	216238117		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216238117C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5902G>A	2.37:g.216238117C>T	ENSP00000352696:p.Glu1968Lys					FN1_ENST00000432072.2_Missense_Mutation_p.E1969K|FN1_ENST00000357009.2_Missense_Mutation_p.E1968K|FN1_ENST00000345488.5_Missense_Mutation_p.E1968K|FN1_ENST00000346544.3_Missense_Mutation_p.E1968K|FN1_ENST00000359671.1_Missense_Mutation_p.E1968K|FN1_ENST00000336916.4_Missense_Mutation_p.E1968K|FN1_ENST00000446046.1_Missense_Mutation_p.E1968K|FN1_ENST00000443816.1_Missense_Mutation_p.E1878K|FN1_ENST00000356005.4_Missense_Mutation_p.E1878K|FN1_ENST00000357867.4_Missense_Mutation_p.E1878K|FN1_ENST00000421182.1_Missense_Mutation_p.E1878K|FN1_ENST00000323926.6_Missense_Mutation_p.E2059K	p.E2059K			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	39	6544	-		Renal(323;0.127)	1968			Connecting strand 3 (CS-3) (V region).		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6175G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947772	0.73787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71953	0.3401	L	0.58302	1.8	0.24871	N	0.99228	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.996;0.999;1.0;1.0;0.999;0.999;0.999;1.0;1.0	D;D;D;D;P;D;D;D;D;D;D;D;D	0.87578	0.987;0.991;0.991;0.993;0.873;0.991;0.998;0.983;0.995;0.991;0.991;0.947;0.998	T	0.64162	-0.6472	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1759;1968;1969;2059;1878;1878;1968;1968;1969;1878;1878;2059;1968	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	K	1878;2059;1968;1878;2059;1969;1968;1968;1968;1968;1968;1878;1969;1878;685;87	ENSP00000394423:E1878K;ENSP00000323534:E2059K;ENSP00000338200:E1968K;ENSP00000350534:E1878K;ENSP00000346839:E2059K;ENSP00000352696:E1968K;ENSP00000265312:E1968K;ENSP00000273049:E1968K;ENSP00000349509:E1968K;ENSP00000410422:E1968K;ENSP00000415018:E1878K;ENSP00000399538:E1969K;ENSP00000348285:E1878K;ENSP00000416139:E685K;ENSP00000392565:E87K	ENSP00000265313:E1969K	E	-	1	0	FN1	215946362	0.998000	0.40836	0.976000	0.42696	0.499000	0.33736	3.925000	0.56484	2.941000	0.99782	0.655000	0.94253	GAA		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	84	0	0	0	1	0	4	84				
PUM1	9698	broad.mit.edu	37	1	31439111	31439111	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:31439111C>T	ENST00000257075.5	-	13	1897	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PUM1_ENST00000373742.2_Missense_Mutation_p.A543T|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000423018.2_Missense_Mutation_p.A458T|PUM1_ENST00000426105.2_Missense_Mutation_p.A602T|PUM1_ENST00000373747.3_Missense_Mutation_p.A603T|PUM1_ENST00000373741.4_Missense_Mutation_p.A638T|PUM1_ENST00000440538.2_Intron|PUM1_ENST00000424085.2_Missense_Mutation_p.A360T|PUM1_ENST00000490546.1_5'UTR	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	602	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAAGCTGCGGCTGCTGCA	0.473																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1807-1809)Gca>Aca		pumilio RNA-binding family member 1							53.0	54.0	54.0					1																	31439111		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31439111C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1804G>A	1.37:g.31439111C>T	ENSP00000257075:p.Ala602Thr					PUM1_ENST00000373742.2_Missense_Mutation_p.A543T|PUM1_ENST00000257075.5_Missense_Mutation_p.A602T|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000440538.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.A602T|PUM1_ENST00000424085.2_Missense_Mutation_p.A360T|PUM1_ENST00000423018.2_Missense_Mutation_p.A458T|PUM1_ENST00000373741.4_Missense_Mutation_p.A638T	p.A603T	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	13	1906	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	602			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1807G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.289188|4.289188	0.80914|0.80914	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T|.	0.19532|.	2.18;2.15;2.39;2.41;2.41;2.39;2.14|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.71674|.	0.998;0.99;0.997;0.998;0.997;0.998;0.994|.	P;P;P;P;P;P;B|.	0.56398|.	0.797;0.603;0.797;0.691;0.797;0.691;0.382|.	T|T	0.72141|0.72141	-0.4380|-0.4380	10|5	0.40728|.	T|.	0.16|.	-8.0038|-8.0038	20.3932|20.3932	0.98965|0.98965	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	543;458;638;602;602;603;602|.	B4DG92;E7EWT3;Q5T1Z8;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;PUM1_HUMAN;.;.;.|.	T|H	360;602;603;340;602;638;458;543|619;313	ENSP00000400141:A360T;ENSP00000257075:A602T;ENSP00000362852:A603T;ENSP00000391723:A602T;ENSP00000362846:A638T;ENSP00000399440:A458T;ENSP00000362847:A543T|.	ENSP00000257075:A602T|.	A|R	-|-	1|2	0|0	PUM1|PUM1	31211698|31211698	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.473	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			26	65	0	0	0	1	0	26	65				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000420246.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000574684.1_5'Flank	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		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"""		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	CM993218	TP53	M	rs121912660	c.(838-840)aGa>aCa	Other conserved DNA damage response genes	tumor protein p53							77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577099C>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.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	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_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron	p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	971	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	5	0	0	0	1	0	17	5				
DENND1A	57706	broad.mit.edu	37	9	126143973	126143973	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:126143973G>A	ENST00000373624.2	-	22	2969	c.2768C>T	c.(2767-2769)aCg>aTg	p.T923M	DENND1A_ENST00000542603.1_Missense_Mutation_p.T708M|DENND1A_ENST00000394219.3_Missense_Mutation_p.T934M|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	923	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGGGGCAACGTTCGGATCCT	0.687																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2767-2769)aCg>aTg		DENN/MADD domain containing 1A							8.0	10.0	9.0					9																	126143973		2155	4247	6402	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126143973G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2768C>T	9.37:g.126143973G>A	ENSP00000362727:p.Thr923Met					DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.T934M|DENND1A_ENST00000542603.1_Missense_Mutation_p.T708M	p.T923M	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			22	2969	-			923			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.2768C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984861	0.74474	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.28454	3.05;1.61;2.92	4.94	4.94	0.65067	.	0.302249	0.31301	N	0.007894	T	0.48040	0.1478	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.976;0.996	T	0.51108	-0.8747	10	0.87932	D	0	-11.0921	18.1909	0.89806	0.0:0.0:1.0:0.0	.	934;924;923;786	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	M	923;708;934	ENSP00000362727:T923M;ENSP00000437457:T708M;ENSP00000377766:T934M	ENSP00000362727:T923M	T	-	2	0	DENND1A	125183794	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.405000	0.73272	2.304000	0.77564	0.555000	0.69702	ACG		0.687	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		2	1	0	0	0	1	0	2	1				
MT-ND4	4538	broad.mit.edu	37	M	10854	10854	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrM:10854T>C	ENST00000361381.2	+	1	95	c.95T>C	c.(94-96)cTa>cCa	p.L32P	MT-TR_ENST00000387439.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	32					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CACCCACAGCCTAATTATTAG	0.398																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(94-96)cTa>cCa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:10854T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.95T>C	M.37:g.10854T>C	ENSP00000354961:p.Leu32Pro						p.32_32insP							1	95	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.95T>C																																																																																					0.398	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		35	12	0	0	0	1	0	35	12				
WDR13	64743	broad.mit.edu	37	X	48458032	48458032	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:48458032G>A	ENST00000218056.5	+	4	955	c.450G>A	c.(448-450)ggG>ggA	p.G150G	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Silent_p.G150G	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	150						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCATGGCCGGGGACACGTCAC	0.617																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(448-450)ggG>ggA		WD repeat domain 13							101.0	84.0	90.0					X																	48458032		2203	4300	6503	SO:0001819	synonymous_variant	64743					cytoplasm|nucleus		g.chrX:48458032G>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.450G>A	X.37:g.48458032G>A						WDR13_ENST00000492715.1_3'UTR	p.G150G	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			4	955	+			150					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	c.450G>A	CCDS14302.1																																																																																				0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			23	52	0	0	0	1	0	23	52				
UTRN	7402	broad.mit.edu	37	6	144757091	144757091	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:144757091G>T	ENST00000367545.3	+	9	876	c.876G>T	c.(874-876)gaG>gaT	p.E292D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	292	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGAGGAGGAGCATGAGAGTC	0.498																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(874-876)gaG>gaT		utrophin							86.0	77.0	80.0					6																	144757091		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144757091G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.876G>T	6.37:g.144757091G>T	ENSP00000356515:p.Glu292Asp						p.E292D	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	9	876	+		Ovarian(120;0.218)	292			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.876G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814151	0.32053	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.60548	0.18	5.77	0.55	0.17219	.	0.435189	0.19468	N	0.113535	T	0.24470	0.0593	L	0.36672	1.1	0.43734	D	0.99622	P	0.39665	0.682	B	0.36134	0.218	T	0.03684	-1.1013	10	0.46703	T	0.11	.	6.7692	0.23585	0.3276:0.2049:0.4674:0.0	.	292	P46939	UTRO_HUMAN	D	292	ENSP00000356515:E292D	ENSP00000356499:E292D	E	+	3	2	UTRN	144798784	0.966000	0.33281	0.127000	0.21898	0.003000	0.03518	0.406000	0.21032	0.094000	0.17404	-0.345000	0.07892	GAG		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			10	29	1	0	0.00621372	1	0.00621372	10	29				
IFNA16	3449	broad.mit.edu	37	9	21217162	21217162	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:21217162G>C	ENST00000380216.1	-	1	148	c.143C>G	c.(142-144)tCt>tGt	p.S48C		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	48					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGAGAAATGAGAGATTCTTCC	0.502																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(142-144)tCt>tGt		interferon, alpha 16							102.0	103.0	103.0					9																	21217162		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217162G>C		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.143C>G	9.37:g.21217162G>C	ENSP00000369564:p.Ser48Cys						p.S48C	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	148	-			48					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.143C>G	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	11.89	1.774657	0.31411	.	.	ENSG00000147885	ENST00000380216	T	0.07021	3.23	2.62	2.62	0.31277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.338179	0.32175	N	0.006479	T	0.33294	0.0858	H	0.95611	3.695	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.15694	-1.0428	10	0.87932	D	0	.	5.5227	0.16941	0.1613:0.0:0.8387:0.0	.	48	P05015	IFN16_HUMAN	C	48	ENSP00000369564:S48C	ENSP00000369564:S48C	S	-	2	0	IFNA16	21207162	0.000000	0.05858	0.085000	0.20634	0.038000	0.13279	0.666000	0.25097	1.471000	0.48121	0.184000	0.17185	TCT		0.502	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		67	41	0	0	0	1	0	67	41				
HIVEP1	3096	broad.mit.edu	37	6	12121828	12121828	+	Missense_Mutation	SNP	C	C	A	rs373106084		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:12121828C>A	ENST00000379388.2	+	4	2132	c.1800C>A	c.(1798-1800)aaC>aaA	p.N600K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	600					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGTGACAAACGTACAGCCAC	0.498																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(1798-1800)aaC>aaA		human immunodeficiency virus type I enhancer binding protein 1							76.0	74.0	75.0					6																	12121828		1987	4167	6154	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121828C>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1800C>A	6.37:g.12121828C>A	ENSP00000368698:p.Asn600Lys						p.N600K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2132	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	600					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1800C>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543346	0.45280	.	.	ENSG00000095951	ENST00000379388	T	0.09538	2.97	5.73	-7.12	0.01537	.	1.350010	0.05263	N	0.516126	T	0.01765	0.0056	L	0.31664	0.95	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40961	-0.9535	9	.	.	.	-0.3102	7.4555	0.27264	0.0:0.3175:0.3432:0.3392	.	600	P15822	ZEP1_HUMAN	K	600	ENSP00000368698:N600K	.	N	+	3	2	HIVEP1	12229814	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	0.090000	0.15025	-1.638000	0.01529	-0.302000	0.09304	AAC		0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		51	49	1	0	6.32628e-17	1	7.54714e-17	51	49				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	40	0	0	0	1	0	4	40				
SPHKAP	80309	broad.mit.edu	37	2	228882546	228882546	+	Silent	SNP	G	G	A	rs200492792		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:228882546G>A	ENST00000392056.3	-	7	3070	c.3024C>T	c.(3022-3024)gaC>gaT	p.D1008D	SPHKAP_ENST00000344657.5_Silent_p.D1008D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1008						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGGGTGCTCGTCCGTCTTCC	0.517																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3022-3024)gaC>gaT		SPHK1 interactor, AKAP domain containing							92.0	80.0	84.0					2																	228882546		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882546G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3024C>T	2.37:g.228882546G>A						SPHKAP_ENST00000344657.5_Silent_p.D1008D	p.D1008D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3070	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1008					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3024C>T	CCDS46537.1																																																																																				0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		45	48	0	0	0	1	0	45	48				
HCP5	10866	broad.mit.edu	37	6	31431643	31431643	+	RNA	SNP	C	C	G	rs192776040	byFrequency	TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:31431643C>G	ENST00000414046.2	+	0	715					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						gggttccacacgaactcctcc	0.572																																						ENST00000414046.2																			0				urinary_tract(1)	1															78.0	85.0	82.0					6																	31431643		2203	4300	6503			0				defense response			g.chr6:31431643C>G	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431643C>G								NR_040662.1		Q6MZN7	HCP5_HUMAN			0	715	+								Q04490	RNA	SNP	ENST00000414046.2	37																																																																																						0.572	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		19	150	0	0	0	1	0	19	150				
CD163L1	283316	broad.mit.edu	37	12	7550963	7550963	+	Missense_Mutation	SNP	G	G	T	rs566622582		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr12:7550963G>T	ENST00000313599.3	-	7	1683	c.1626C>A	c.(1624-1626)gaC>gaA	p.D542E	CD163L1_ENST00000416109.2_Missense_Mutation_p.D552E|CD163L1_ENST00000396630.1_Missense_Mutation_p.D542E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	542	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCAAGAAACGTCATCCAGCC	0.413																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1624-1626)gaC>gaA		CD163 molecule-like 1							220.0	201.0	208.0					12																	7550963		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7550963G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1626C>A	12.37:g.7550963G>T	ENSP00000315945:p.Asp542Glu					CD163L1_ENST00000416109.2_Missense_Mutation_p.D552E|CD163L1_ENST00000396630.1_Missense_Mutation_p.D542E	p.D542E			Q9NR16	C163B_HUMAN			7	1683	-			542			SRCR 5.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1626C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172188	0.57584	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.28454	1.61;1.61;1.61	2.77	-4.0	0.04057	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.982626	0.08254	U	0.974183	T	0.25232	0.0613	N	0.17872	0.535	0.18873	N	0.999988	D;D	0.56035	0.974;0.974	P;P	0.57846	0.74;0.828	T	0.21075	-1.0256	10	0.23891	T	0.37	.	3.7655	0.08620	0.4462:0.0:0.3795:0.1743	.	552;542	E7EVK4;Q9NR16	.;C163B_HUMAN	E	542;552;542	ENSP00000315945:D542E;ENSP00000393474:D552E;ENSP00000379871:D542E	ENSP00000315945:D542E	D	-	3	2	CD163L1	7442230	0.000000	0.05858	0.048000	0.18961	0.573000	0.36030	-1.922000	0.01568	-0.472000	0.06881	-1.346000	0.01242	GAC		0.413	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		48	66	1	0	4.18559e-23	1	5.17491e-23	48	66				
KIR3DL2	3812	broad.mit.edu	37	19	55363703	55363703	+	Silent	SNP	G	G	A	rs370791268		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:55363703G>A	ENST00000326321.3	+	3	354	c.321G>A	c.(319-321)tcG>tcA	p.S107S	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Silent_p.S107S	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	107					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGGTGGTCGGCACCCAGCA	0.597																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(319-321)tcG>tcA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2		G		1,4325		0,1,2162	88.0	77.0	81.0		321	-0.5	0.0	19		81	1,8257		0,1,4128	no	coding-synonymous	KIR3DL2	NM_006737.3		0,2,6290	AA,AG,GG		0.0121,0.0231,0.0159		107/456	55363703	2,12582	2163	4129	6292	SO:0001819	synonymous_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55363703G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.321G>A	19.37:g.55363703G>A						KIR3DL2_ENST00000270442.5_Silent_p.S107S|KIR3DL1_ENST00000402254.2_Intron	p.S107S	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	354	+			107					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.321G>A	CCDS12906.1																																																																																				0.597	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			81	3	0	0	0	1	0	81	3				
HDAC5	10014	broad.mit.edu	37	17	42171102	42171102	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:42171102G>A	ENST00000393622.2	-	4	526	c.195C>T	c.(193-195)ggC>ggT	p.G65G	HDAC5_ENST00000586802.1_Silent_p.G65G|HDAC5_ENST00000225983.6_Silent_p.G66G|HDAC5_ENST00000336057.5_Silent_p.G65G	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	65					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGTCCACAGAGCCCACCAGAG	0.667																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(196-198)ggC>ggT		histone deacetylase 5							13.0	14.0	14.0					17																	42171102		2198	4296	6494	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42171102G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.195C>T	17.37:g.42171102G>A						HDAC5_ENST00000336057.5_Silent_p.G65G|HDAC5_ENST00000393622.2_Silent_p.G65G|HDAC5_ENST00000586802.1_Silent_p.G65G	p.G66G			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	521	-		Breast(137;0.00637)|Prostate(33;0.0313)	65					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.198C>T	CCDS45696.1																																																																																				0.667	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		7	1	0	0	0	1	0	7	1				
ATP8B3	148229	broad.mit.edu	37	19	1802614	1802614	+	Missense_Mutation	SNP	C	C	A	rs572936091		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802614C>A	ENST00000310127.6	-	11	1173	c.935G>T	c.(934-936)cGg>cTg	p.R312L	ATP8B3_ENST00000526092.2_Missense_Mutation_p.R259L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259L|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R312L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGCATCCGACTGTTAGG	0.612																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(934-936)cGg>cTg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							95.0	101.0	99.0					19																	1802614		2104	4230	6334	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802614C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.935G>T	19.37:g.1802614C>A	ENSP00000311336:p.Arg312Leu					ATP8B3_ENST00000526092.1_Missense_Mutation_p.R259L|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R312L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259L	p.R312L			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1168	-		Hepatocellular(1079;0.137)	312					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.935G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.072553	0.36566	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	3.72	1.53	0.23141	ATPase, P-type, ATPase-associated domain (1);	0.481828	0.23175	U	0.051081	T	0.66056	0.2751	L	0.49640	1.575	0.27182	N	0.960649	D;P;P	0.54601	0.967;0.695;0.867	P;B;P	0.45506	0.456;0.306;0.483	T	0.58250	-0.7669	10	0.34782	T	0.22	.	6.7172	0.23310	0.0:0.6929:0.0:0.3071	.	259;312;259	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	L	312;312;259;259;259	ENSP00000311336:R312L;ENSP00000443574:R312L;ENSP00000437115:R259L;ENSP00000445204:R259L	ENSP00000311336:R312L	R	-	2	0	ATP8B3	1753614	0.068000	0.21057	0.562000	0.28370	0.009000	0.06853	0.810000	0.27183	0.264000	0.21851	0.450000	0.29827	CGG		0.612	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		5	5	1	0	0.000602214	1	0.000611203	5	5				
SCRIB	23513	broad.mit.edu	37	8	144885555	144885555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr8:144885555C>A	ENST00000320476.3	-	24	3607	c.3601G>T	c.(3601-3603)Gag>Tag	p.E1201*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.E1120*|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.E1201*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1201	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCGCTAACCTCCAGGGCTGCG	0.711																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(3601-3603)Gag>Tag		scribbled planar cell polarity protein							12.0	16.0	14.0					8																	144885555		2181	4281	6462	SO:0001587	stop_gained	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885555C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3601G>T	8.37:g.144885555C>A	ENSP00000322938:p.Glu1201*					SCRIB_ENST00000377533.3_Nonsense_Mutation_p.E1120*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.E1201*	p.E1201*	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		24	3607	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1201			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	c.3601G>T	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.444783|9.444783	0.99172|0.99172	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539|ENST00000526832	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64789	.|0.2630	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71702	.|-0.4513	.|3	0.51188|.	T|.	0.08|.	.|.	14.1801|14.1801	0.65568|0.65568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1201;1201;1120;570|196	.|.	ENSP00000322938:E1201X|.	E|G	-|-	1|2	0|0	SCRIB|SCRIB	144957543|144957543	0.999000|0.999000	0.42202|0.42202	0.876000|0.876000	0.34364|0.34364	0.047000|0.047000	0.14425|0.14425	4.097000|4.097000	0.57741|0.57741	1.967000|1.967000	0.57214|0.57214	0.456000|0.456000	0.33151|0.33151	GAG|GGA		0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	29	1	0	0.000602214	1	0.000611203	5	29				
SDC3	9672	broad.mit.edu	37	1	31347424	31347424	+	Silent	SNP	T	T	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:31347424T>C	ENST00000339394.6	-	4	1056	c.882A>G	c.(880-882)ccA>ccG	p.P294P	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Silent_p.P236P	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	294	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGTCTCTGGAGTTGGGG	0.597																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(706-708)ccA>ccG		syndecan 3							93.0	88.0	90.0					1																	31347424		2203	4300	6503	SO:0001819	synonymous_variant	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347424T>C	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.882A>G	1.37:g.31347424T>C						SDC3_ENST00000339394.6_Silent_p.P294P	p.P236P			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	2200	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	294			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	c.708A>G	CCDS30661.1																																																																																				0.597	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		69	64	0	0	0	1	0	69	64				
ZNF780B	163131	broad.mit.edu	37	19	40541792	40541792	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:40541792C>T	ENST00000434248.1	-	5	1039	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF780B_ENST00000221355.6_Missense_Mutation_p.R177Q	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	325					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTATGAATTCGGCAATGTTC	0.388																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(973-975)cGa>cAa		zinc finger protein 780B							95.0	95.0	95.0					19																	40541792		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541792C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.974G>A	19.37:g.40541792C>T	ENSP00000391641:p.Arg325Gln					ZNF780B_ENST00000221355.6_Missense_Mutation_p.R177Q	p.R325Q	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1039	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		325					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.974G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	c	9.614	1.132058	0.21041	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.24723	1.84;1.84	2.21	-4.42	0.03579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	M	0.66439	2.03	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.13442	-1.0509	9	0.66056	D	0.02	.	4.8658	0.13607	0.1407:0.4777:0.0:0.3816	.	325	Q9Y6R6	Z780B_HUMAN	Q	325;177	ENSP00000391641:R325Q;ENSP00000221355:R177Q	ENSP00000221355:R177Q	R	-	2	0	ZNF780B	45233632	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.614000	0.05604	-3.434000	0.00164	-4.181000	0.00010	CGA		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		27	80	0	0	0	1	0	27	80				
SVIL	6840	broad.mit.edu	37	10	29747234	29747234	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr10:29747234T>C	ENST00000355867.4	-	38	7339	c.6587A>G	c.(6586-6588)tAc>tGc	p.Y2196C	SVIL_ENST00000375400.3_Missense_Mutation_p.Y1770C|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.Y1110C|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.Y2196C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2196	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGGGCGTTGTATTCATCCCT	0.572																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6586-6588)tAc>tGc		supervillin							117.0	103.0	108.0					10																	29747234		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29747234T>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6587A>G	10.37:g.29747234T>C	ENSP00000348128:p.Tyr2196Cys					PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.Y1110C|SVIL_ENST00000375400.3_Missense_Mutation_p.Y1770C|SVIL_ENST00000355867.4_Missense_Mutation_p.Y2196C|PTCHD3P1_ENST00000430295.1_RNA	p.Y2196C			O95425	SVIL_HUMAN			40	7036	-		Breast(68;0.103)	2196			HP.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6587A>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105607	0.56291	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.16457	2.45;2.48;2.48;2.34	4.39	0.403	0.16350	Villin headpiece (5);	0.178796	0.51477	D	0.000099	T	0.38480	0.1042	M	0.83012	2.62	0.80722	D	1	D;P;D	0.64830	0.983;0.712;0.994	P;P;D	0.69479	0.851;0.535;0.964	T	0.17653	-1.0362	10	0.87932	D	0	-9.6424	9.5365	0.39226	0.4198:0.0:0.0:0.5802	.	1110;1770;2196	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	C	1770;2196;2196;1110	ENSP00000364549:Y1770C;ENSP00000364547:Y2196C;ENSP00000348128:Y2196C;ENSP00000445472:Y1110C	ENSP00000348128:Y2196C	Y	-	2	0	SVIL	29787240	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	1.447000	0.35101	-0.099000	0.12263	-0.343000	0.07986	TAC		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	65	0	0	0	1	0	20	65				
LPAR4	2846	broad.mit.edu	37	X	78010756	78010756	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:78010756C>A	ENST00000435339.3	+	2	776	c.390C>A	c.(388-390)acC>acA	p.T130T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	130					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TCTTTCTCACCTGTATTAGTG	0.468																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(388-390)acC>acA		lysophosphatidic acid receptor 4							227.0	168.0	188.0					X																	78010756		2203	4299	6502	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010756C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.390C>A	X.37:g.78010756C>A						LPAR4_ENST00000373301.2_Silent_p.T130T	p.T130T	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	795	+			130					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.390C>A	CCDS14441.1																																																																																				0.468	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		60	50	1	0	9.59835e-30	1	1.20868e-29	60	50				
MAPK8IP3	23162	broad.mit.edu	37	16	1814128	1814128	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:1814128G>C	ENST00000250894.4	+	18	2192	c.2035G>C	c.(2035-2037)Ggg>Cgg	p.G679R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G673R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	679					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.G679W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAGTCCCAACGGGGGCCAGGA	0.662																																						ENST00000250894.4																			1	Substitution - Missense(1)	p.G679W(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2035-2037)Ggg>Cgg		mitogen-activated protein kinase 8 interacting protein 3							30.0	40.0	37.0					16																	1814128		2083	4207	6290	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814128G>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2035G>C	16.37:g.1814128G>C	ENSP00000250894:p.Gly679Arg					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G673R	p.G679R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			18	2192	+			679					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2035G>C	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620388	0.66787	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.33438	1.41;1.41	4.67	4.67	0.58626	.	0.247639	0.42420	D	0.000701	T	0.49423	0.1556	M	0.65498	2.005	0.31712	N	0.639368	B;P;D	0.54772	0.205;0.771;0.968	B;B;P	0.57720	0.158;0.312;0.826	T	0.58047	-0.7705	10	0.41790	T	0.15	-32.7923	17.161	0.86803	0.0:0.0:1.0:0.0	.	680;673;679	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	679;673	ENSP00000250894:G679R;ENSP00000348290:G673R	ENSP00000250894:G679R	G	+	1	0	MAPK8IP3	1754129	1.000000	0.71417	0.683000	0.30040	0.764000	0.43329	6.414000	0.73318	2.154000	0.67381	0.491000	0.48974	GGG		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		15	19	0	0	0	1	0	15	19				
GATSL3	652968	broad.mit.edu	37	22	30682353	30682353	+	Silent	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr22:30682353C>T	ENST00000407689.3	-	6	771	c.642G>A	c.(640-642)gaG>gaA	p.E214E	GATSL3_ENST00000459785.1_Intron|GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	214										breast(1)|endometrium(1)|lung(1)	3						TAGAGGCTGCCTCCTTGGGGG	0.572																																						ENST00000407689.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(640-642)gaG>gaA		GATS protein-like 3							64.0	78.0	73.0					22																	30682353		2077	4210	6287	SO:0001819	synonymous_variant	652968							g.chr22:30682353C>T		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.642G>A	22.37:g.30682353C>T						GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	p.E214E	NM_001037666.2	NP_001032755.1					6	771	-								O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	37	c.642G>A	CCDS43001.1																																																																																				0.572	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2	NM_001037666		34	2	0	0	0	1	0	34	2				
NLGN4X	57502	broad.mit.edu	37	X	5821878	5821878	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:5821878C>T	ENST00000381095.3	-	5	1468	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	281					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGGCGGTGCCGCTCTGAATG	0.532																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(841-843)Ggc>Agc		neuroligin 4, X-linked							81.0	67.0	72.0					X																	5821878		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821878C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.841G>A	X.37:g.5821878C>T	ENSP00000370485:p.Gly281Ser					NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301S	p.G281S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	1468	-			281					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.841G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545890	0.86022	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	3.79	3.79	0.43588	Carboxylesterase, type B (1);	.	.	.	.	D	0.92309	0.7560	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93836	0.7132	8	.	.	.	.	14.2026	0.65714	0.0:1.0:0.0:0.0	.	338;281;301	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	S	281;301;281;281;281	ENSP00000370485:G281S;ENSP00000370483:G301S;ENSP00000275857:G281S;ENSP00000370482:G281S;ENSP00000439203:G281S	.	G	-	1	0	NLGN4X	5831878	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	6.718000	0.74713	1.503000	0.48686	0.600000	0.82982	GGC		0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		12	73	0	0	0	1	0	12	73				
MAP3K19	80122	broad.mit.edu	37	2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:135745373G>A	ENST00000375845.3	-	7	1099	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGTTTTCGCGTTTTACTA	0.378																																						ENST00000375845.3																			0											c.(1069-1071)Cga>Tga		mitogen-activated protein kinase kinase kinase 19							59.0	56.0	57.0					2																	135745373		2203	4300	6503	SO:0001587	stop_gained	80122							g.chr2:135745373G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1069C>T	2.37:g.135745373G>A	ENSP00000365005:p.Arg357*					MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000315513.3_5'UTR	p.R357*	NM_025052.3	NP_079328.3					7	1099	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1069C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494529	0.44352	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.58	2.09	0.27110	.	0.526148	0.15899	N	0.239179	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5785	0.22581	0.0:0.0894:0.4993:0.4113	.	.	.	.	X	357;244;374	.	ENSP00000351140:R244X	R	-	1	2	YSK4	135461843	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	0.149000	0.16243	0.243000	0.21327	-0.291000	0.09656	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		19	16	0	0	0	1	0	19	16				
MYL10	93408	broad.mit.edu	37	7	101265461	101265461	+	Missense_Mutation	SNP	G	G	T	rs140607004	byFrequency	TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:101265461G>T	ENST00000223167.4	-	5	546	c.369C>A	c.(367-369)aaC>aaA	p.N123K		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	123						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCAGTTCCTCGTTCTTGACAT	0.597																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(367-369)aaC>aaA		myosin, light chain 10, regulatory							97.0	80.0	86.0					7																	101265461		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101265461G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.369C>A	7.37:g.101265461G>T	ENSP00000223167:p.Asn123Lys						p.N123K	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			5	546	-			123						Missense_Mutation	SNP	ENST00000223167.4	37	c.369C>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163237	0.21538	.	.	ENSG00000106436	ENST00000223167	T	0.77620	-1.11	4.28	-2.76	0.05896	EF-hand-like domain (1);	0.067013	0.56097	D	0.000029	T	0.71134	0.3304	N	0.16656	0.425	0.38236	D	0.941194	D	0.53151	0.958	P	0.57244	0.816	T	0.72121	-0.4386	10	0.87932	D	0	.	11.7853	0.52039	0.6936:0.0:0.3064:0.0	.	123	Q9BUA6	MYL10_HUMAN	K	123	ENSP00000223167:N123K	ENSP00000223167:N123K	N	-	3	2	MYL10	101052181	0.000000	0.05858	0.967000	0.41034	0.010000	0.07245	-2.380000	0.01066	-0.580000	0.05944	-0.460000	0.05396	AAC		0.597	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		33	41	1	0	4.74835e-14	1	5.38147e-14	33	41				
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	C	G	rs201519055	byFrequency	TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr22:25011062C>G	ENST00000400382.1	+	7	1105	c.350C>G	c.(349-351)aCc>aGc	p.T117S	GGT1_ENST00000400383.1_Missense_Mutation_p.T117S|GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	117					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.T117S(8)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCTTTGCCACCATGTTCAAC	0.637																																						ENST00000400382.1																			8	Substitution - Missense(8)	p.T117S(8)	kidney(4)|skin(3)|lung(1)	breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(349-351)aCc>aGc		gamma-glutamyltransferase 1	Glutathione(DB00143)						25.0	26.0	26.0					22																	25011062		1913	4123	6036	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25011062C>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.350C>G	22.37:g.25011062C>G	ENSP00000383232:p.Thr117Ser					GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400383.1_Missense_Mutation_p.T117S	p.T117S			P19440	GGT1_HUMAN			7	1105	+			117					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.350C>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.981130	0.00448	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000447416;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	3.62	-7.23	0.01480	.	1.055640	0.07408	N	0.891875	T	0.04998	0.0134	N	0.21097	0.63	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.40001	-0.9586	10	0.23302	T	0.38	-25.7648	9.3717	0.38258	0.4508:0.4439:0.1054:0.0	.	117	P19440	GGT1_HUMAN	S	117	ENSP00000248923:T117S;ENSP00000389935:T117S;ENSP00000393537:T117S;ENSP00000395271:T117S;ENSP00000383232:T117S;ENSP00000415553:T117S;ENSP00000383233:T117S;ENSP00000383231:T117S;ENSP00000400621:T117S;ENSP00000385975:T117S;ENSP00000415068:T117S	ENSP00000248923:T117S	T	+	2	0	GGT1	23341062	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-3.668000	0.00398	-2.673000	0.00413	-1.718000	0.00708	ACC		0.637	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		5	30	0	0	0	1	0	5	30				
ZNF841	284371	broad.mit.edu	37	19	52569974	52569974	+	Silent	SNP	A	A	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:52569974A>T	ENST00000426391.2	-	5	1364	c.813T>A	c.(811-813)tcT>tcA	p.S271S	ZNF841_ENST00000389534.4_Silent_p.S387S|ZNF841_ENST00000359973.2_Silent_p.S271S|ZNF841_ENST00000594295.1_Silent_p.S387S|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	271					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(1)|endometrium(4)|kidney(3)|lung(3)	11						GAGTTGCAAGAGAGGAACTTT	0.398																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1159-1161)tcT>tcA		zinc finger protein 841							129.0	115.0	119.0					19																	52569974		692	1591	2283	SO:0001819	synonymous_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569974A>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.813T>A	19.37:g.52569974A>T						ZNF841_ENST00000594295.1_Silent_p.S387S|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Silent_p.S271S|ZNF841_ENST00000426391.2_Silent_p.S271S	p.S387S	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	1620	-			271					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37	c.1161T>A																																																																																					0.398	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		16	7	0	0	0	1	0	16	7				
PKM	5315	broad.mit.edu	37	15	72492887	72492887	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr15:72492887G>A	ENST00000335181.5	-	10	1520	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000389093.3_Silent_p.L473L|PKM_ENST00000565184.1_Silent_p.L473L|PKM_ENST00000568883.1_Silent_p.L308L|PKM_ENST00000565154.1_Silent_p.L473L|PKM_ENST00000319622.6_Silent_p.L473L|PKM_ENST00000568459.1_Silent_p.L473L|PKM_ENST00000449901.2_Silent_p.L458L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	473	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCCTTGCACAGCACAGGGAAG	0.632																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(1417-1419)Ctg>Ttg		pyruvate kinase, muscle							68.0	65.0	66.0					15																	72492887		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72492887G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1417C>T	15.37:g.72492887G>A						PKM_ENST00000389093.3_Silent_p.L473L|PKM_ENST00000335181.5_Silent_p.L473L|PKM_ENST00000568883.1_Silent_p.L308L|PKM_ENST00000565184.1_Silent_p.L473L|PKM_ENST00000568459.1_Silent_p.L473L|PKM_ENST00000449901.2_Silent_p.L458L|PKM_ENST00000565154.1_Silent_p.L473L	p.L473L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					10	1873	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.1417C>T	CCDS32284.1																																																																																				0.632	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			56	59	0	0	0	1	0	56	59				
MKL2	57496	broad.mit.edu	37	16	14341273	14341273	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:14341273C>T	ENST00000341243.5	+	10	2123	c.2123C>T	c.(2122-2124)aCc>aTc	p.T708I	MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Missense_Mutation_p.T719I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	708	Gln-rich.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTTACTGACCACGCAGACT	0.592																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2155-2157)aCc>aTc		MKL/myocardin-like 2																																				SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341273C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2123C>T	16.37:g.14341273C>T	ENSP00000345841:p.Thr708Ile					MKL2_ENST00000341243.5_Missense_Mutation_p.T708I|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron	p.T719I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2328	+			708			Gln-rich.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2156C>T		.	.	.	.	.	.	.	.	.	.	C	18.30	3.593400	0.66219	.	.	ENSG00000186260	ENST00000341243	.	.	.	5.73	5.73	0.89815	.	0.351548	0.33772	N	0.004578	T	0.57946	0.2088	.	.	.	0.51767	D	0.999934	D	0.54397	0.966	P	0.44860	0.462	T	0.57159	-0.7859	7	.	.	.	-16.8587	18.8587	0.92264	0.0:1.0:0.0:0.0	.	719	B4DGT8	.	I	708	.	.	T	+	2	0	MKL2	14248774	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.197000	0.65141	2.700000	0.92200	0.655000	0.94253	ACC		0.592	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		19	11	0	0	0	1	0	19	11				
SH3TC2	79628	broad.mit.edu	37	5	148389871	148389871	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr5:148389871C>A	ENST00000515425.1	-	14	3390	c.3289G>T	c.(3289-3291)Ggg>Tgg	p.G1097W	SH3TC2_ENST00000538184.1_Missense_Mutation_p.G644W|SH3TC2_ENST00000512049.1_Missense_Mutation_p.G1090W|SH3TC2_ENST00000502274.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1097					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGGTCCCATTGAAGAAC	0.552																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1930-1932)Ggg>Tgg		SH3 domain and tetratricopeptide repeats 2							84.0	76.0	79.0					5																	148389871		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148389871C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3289G>T	5.37:g.148389871C>A	ENSP00000423660:p.Gly1097Trp					SH3TC2_ENST00000515425.1_Missense_Mutation_p.G1097W|SH3TC2_ENST00000512049.1_Missense_Mutation_p.G1090W	p.G644W			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2818	-			1097					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1930G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272027	0.80469	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.76968	-1.06;-1.06;-0.99	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88324	0.2964	10	0.87932	D	0	-32.9398	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1090;1097;1097	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	W	644;1097;1090	ENSP00000441427:G644W;ENSP00000423660:G1097W;ENSP00000421860:G1090W	ENSP00000425627:G1097W	G	-	1	0	SH3TC2	148370064	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.460000	0.66691	2.882000	0.98803	0.655000	0.94253	GGG		0.552	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		17	0	1	0	2.35188e-11	1	2.62177e-11	17	0				
AHR	196	broad.mit.edu	37	7	17362140	17362140	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:17362140C>T	ENST00000242057.4	+	3	912	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	90					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTAAAATCCTCCCCTACTGAA	0.343																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(268-270)tCc>tTc		aryl hydrocarbon receptor							55.0	56.0	55.0					7																	17362140		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17362140C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.269C>T	7.37:g.17362140C>T	ENSP00000242057:p.Ser90Phe						p.S90F	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			3	912	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		90					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.269C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753489	0.69648	.	.	ENSG00000106546	ENST00000242057	T	0.05996	3.36	5.57	5.57	0.84162	.	0.906027	0.09544	N	0.787950	T	0.20901	0.0503	M	0.68952	2.095	0.45250	D	0.998253	B	0.33857	0.429	P	0.47206	0.541	T	0.00918	-1.1515	10	0.54805	T	0.06	.	17.3285	0.87256	0.0:1.0:0.0:0.0	.	90	P35869	AHR_HUMAN	F	90	ENSP00000242057:S90F	ENSP00000242057:S90F	S	+	2	0	AHR	17328665	0.941000	0.31946	0.844000	0.33320	0.854000	0.48673	4.397000	0.59690	2.619000	0.88677	0.655000	0.94253	TCC		0.343	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		6	14	0	0	0	1	0	6	14				
AKAP13	11214	broad.mit.edu	37	15	86225393	86225393	+	Silent	SNP	A	A	G			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr15:86225393A>G	ENST00000394518.2	+	15	5201	c.5106A>G	c.(5104-5106)tcA>tcG	p.S1702S	AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.S1706S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1702					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCTAGATTCACGGCCCTTCC	0.338																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(5104-5106)tcA>tcG		A kinase (PRKA) anchor protein 13							106.0	98.0	101.0					15																	86225393		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86225393A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5106A>G	15.37:g.86225393A>G						AKAP13_ENST00000361243.2_Silent_p.S1706S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	p.S1702S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			15	5201	+			1702					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5106A>G	CCDS32319.1																																																																																				0.338	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		11	48	0	0	0	1	0	11	48				
PNMA3	29944	broad.mit.edu	37	X	152226402	152226402	+	Silent	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:152226402G>T	ENST00000370264.4	+	1	1016	c.990G>T	c.(988-990)ctG>ctT	p.L330L	PNMA3_ENST00000370265.4_Silent_p.L330L|PNMA3_ENST00000447306.1_Silent_p.L330L			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	330					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgaagctcctgcgtgaggagg	0.572																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(988-990)ctG>ctT		paraneoplastic Ma antigen 3							37.0	39.0	39.0					X																	152226402		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226402G>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.990G>T	X.37:g.152226402G>T						PNMA3_ENST00000370264.4_Silent_p.L330L|PNMA3_ENST00000370265.4_Silent_p.L330L	p.L330L	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1326	+	Acute lymphoblastic leukemia(192;6.56e-05)		330					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.990G>T	CCDS35435.2																																																																																				0.572	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		14	55	1	0	1.5842e-08	1	1.70993e-08	14	55				
ATP8B3	148229	broad.mit.edu	37	19	1802613	1802613	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802613C>A	ENST00000310127.6	-	11	1174	c.936G>T	c.(934-936)cgG>cgT	p.R312R	ATP8B3_ENST00000526092.2_Silent_p.R259R|ATP8B3_ENST00000525591.1_Silent_p.R259R|ATP8B3_ENST00000539485.1_Silent_p.R312R	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGGTGCATCCGACTGTTAG	0.607																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(934-936)cgG>cgT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							96.0	103.0	101.0					19																	1802613		2107	4229	6336	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802613C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.936G>T	19.37:g.1802613C>A						ATP8B3_ENST00000526092.1_Silent_p.R259R|ATP8B3_ENST00000310127.6_Silent_p.R312R|ATP8B3_ENST00000525591.1_Silent_p.R259R	p.R312R			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1169	-		Hepatocellular(1079;0.137)	312					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.936G>T	CCDS45901.1																																																																																				0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		5	5	1	0	0.000602214	1	0.000611203	5	5				
MKI67	4288	broad.mit.edu	37	10	129901213	129901213	+	Missense_Mutation	SNP	C	C	T	rs267602414		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr10:129901213C>T	ENST00000368654.3	-	13	9266	c.8891G>A	c.(8890-8892)cGg>cAg	p.R2964Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R2604Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2964					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2964P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493																																						ENST00000368654.3																			1	Substitution - Missense(1)	p.R2964P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8890-8892)cGg>cAg		marker of proliferation Ki-67							87.0	91.0	89.0					10																	129901213		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901213C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8891G>A	10.37:g.129901213C>T	ENSP00000357643:p.Arg2964Gln					MKI67_ENST00000368653.3_Missense_Mutation_p.R2604Q	p.R2964Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9266	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2964					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8891G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201620	0.38905	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02709	4.23;4.19	4.05	2.58	0.30949	.	0.306550	0.23391	N	0.048693	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	D;D;D	0.89917	1.0;0.986;0.996	D;P;P	0.74348	0.983;0.816;0.823	T	0.41413	-0.9510	10	0.12103	T	0.63	.	7.1254	0.25469	0.0:0.8376:0.0:0.1624	.	2963;2604;2964	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2964;2604;2963	ENSP00000357643:R2964Q;ENSP00000357642:R2604Q	ENSP00000357642:R2604Q	R	-	2	0	MKI67	129791203	0.003000	0.15002	0.006000	0.13384	0.013000	0.08279	0.589000	0.23939	0.874000	0.35823	0.561000	0.74099	CGG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	110	0	0	0	1	0	4	110				
OR2M5	127059	broad.mit.edu	37	1	248308944	248308944	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:248308944C>A	ENST00000366476.1	+	1	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CGACATTTTCCTTCTCCTACT	0.448																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(493-495)tcC>tcA		olfactory receptor, family 2, subfamily M, member 5							277.0	261.0	266.0					1																	248308944		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308944C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.495C>A	1.37:g.248308944C>A							p.S165S	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	495	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		165						Silent	SNP	ENST00000366476.1	37	c.495C>A	CCDS31105.1																																																																																				0.448	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		134	141	1	0	9.186e-65	1	1.17858e-64	134	141				
TRBV6-8	28599	broad.mit.edu	37	7	142124388	142124388	+	RNA	SNP	G	G	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:142124388G>C	ENST00000390376.2	-	0	89									T cell receptor beta variable 6-8																		TCTTCAGGATGTGGAATTTTG	0.522																																						ENST00000390376.2																			0																				92.0	88.0	89.0					7																	142124388		1923	4122	6045			0							g.chr7:142124388G>C	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124388G>C														0	89	-									RNA	SNP	ENST00000390376.2	37																																																																																						0.522	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		4	103	0	0	0	1	0	4	103				
FRMPD4	9758	broad.mit.edu	37	X	12735885	12735885	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:12735885G>A	ENST00000380682.1	+	16	3446	c.2940G>A	c.(2938-2940)ccG>ccA	p.P980P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	980					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGACCTCCCGCCCAAAGTTG	0.572																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2938-2940)ccG>ccA		FERM and PDZ domain containing 4							56.0	55.0	55.0					X																	12735885		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735885G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2940G>A	X.37:g.12735885G>A							p.P980P	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3446	+			980					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.2940G>A	CCDS35201.1																																																																																				0.572	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		106	50	0	0	0	1	0	106	50				
SPIRE2	84501	broad.mit.edu	37	16	89922030	89922030	+	Missense_Mutation	SNP	G	G	A	rs372155150		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:89922030G>A	ENST00000378247.3	+	6	957	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R305Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	305					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ATCCCGCCCCGGGTGAAGAAG	0.672																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(913-915)cGg>cAg		spire-type actin nucleation factor 2		G	GLN/ARG	0,4394		0,0,2197	74.0	54.0	61.0		914	4.4	0.5	16		61	1,8597	1.2+/-3.3	0,1,4298	no	missense	SPIRE2	NM_032451.1	43	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	305/715	89922030	1,12991	2197	4299	6496	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89922030G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.914G>A	16.37:g.89922030G>A	ENSP00000367494:p.Arg305Gln					SPIRE2_ENST00000393062.2_Missense_Mutation_p.R305Q	p.R305Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	6	957	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	305					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.914G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570466	0.86542	0.0	1.16E-4	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.50277	0.76;0.75	5.39	4.43	0.53597	.	0.166781	0.56097	N	0.000029	T	0.63498	0.2516	M	0.72479	2.2	0.80722	D	1	D;B;D;B	0.89917	1.0;0.232;1.0;0.36	D;B;D;B	0.83275	0.996;0.019;0.975;0.028	T	0.63883	-0.6536	10	0.48119	T	0.1	-44.955	8.4893	0.33091	0.1771:0.0:0.8229:0.0	.	172;305;257;305	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	Q	305	ENSP00000367494:R305Q;ENSP00000376782:R305Q	ENSP00000367494:R305Q	R	+	2	0	SPIRE2	88449531	0.989000	0.36119	0.505000	0.27651	0.822000	0.46500	3.718000	0.54919	1.393000	0.46605	0.561000	0.74099	CGG		0.672	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		27	15	0	0	0	1	0	27	15				
NOTCH1	4851	broad.mit.edu	37	9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	385	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1153-1155)tCc>tTc		notch 1							80.0	86.0	84.0					9																	139412690		2173	4281	6454	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412690G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1154C>T	9.37:g.139412690G>A	ENSP00000277541:p.Ser385Phe	HNSCC(8;0.001)					p.S385F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1229	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	385			EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1154C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751446	0.89753	.	.	ENSG00000148400	ENST00000277541	D	0.82711	-1.64	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	L	0.52126	1.63	0.80722	D	1	D	0.56746	0.977	P	0.62649	0.905	D	0.89316	0.3636	10	0.87932	D	0	.	16.4581	0.84029	0.0:0.0:1.0:0.0	.	385	P46531	NOTC1_HUMAN	F	385	ENSP00000277541:S385F	ENSP00000277541:S385F	S	-	2	0	NOTCH1	138532511	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.214000	0.95140	2.223000	0.72356	0.514000	0.50259	TCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	18	0	0	0	1	0	5	18				
SOX3	6658	broad.mit.edu	37	X	139586343	139586343	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:139586343C>T	ENST00000370536.2	-	1	882	c.883G>A	c.(883-885)Gcg>Acg	p.A295T		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	295					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ggcggcagcgcgggcggcggc	0.726																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(883-885)Gcg>Acg		SRY (sex determining region Y)-box 3							2.0	2.0	2.0					X																	139586343		1369	2818	4187	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586343C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.883G>A	X.37:g.139586343C>T	ENSP00000359567:p.Ala295Thr						p.A295T	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	882	-	Acute lymphoblastic leukemia(192;7.65e-05)		295					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.883G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	7.687	0.690300	0.15039	.	.	ENSG00000134595	ENST00000370536	D	0.98028	-4.67	2.48	1.6	0.23607	.	.	.	.	.	D	0.89431	0.6713	N	0.08118	0	0.24039	N	0.996087	P	0.42375	0.778	B	0.31614	0.133	D	0.85244	0.1040	8	.	.	.	.	4.6151	0.12422	0.0:0.8046:0.0:0.1954	.	295	P41225	SOX3_HUMAN	T	295	ENSP00000359567:A295T	.	A	-	1	0	SOX3	139414009	1.000000	0.71417	0.913000	0.36048	0.294000	0.27393	0.849000	0.27723	0.461000	0.27071	0.173000	0.16961	GCG		0.726	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			5	5	0	0	0	1	0	5	5				
PPFIBP1	8496	broad.mit.edu	37	12	27803070	27803070	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr12:27803070C>T	ENST00000318304.8	+	7	882	c.599C>T	c.(598-600)aCa>aTa	p.T200I	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.T200I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.T200I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.T47I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	200					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTCAGAGACACAGAGGTGAGT	0.428																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(598-600)aCa>aTa		PTPRF interacting protein, binding protein 1 (liprin beta 1)							90.0	88.0	89.0					12																	27803070		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27803070C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.599C>T	12.37:g.27803070C>T	ENSP00000314724:p.Thr200Ile					PPFIBP1_ENST00000228425.6_Missense_Mutation_p.T200I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.T200I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.T47I	p.T200I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			7	882	+	Lung SC(9;0.0873)		200					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.599C>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601795	0.66445	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.32272	2.55;1.46;1.47;1.88;2.55;1.89	5.0	5.0	0.66597	.	0.000000	0.35096	U	0.003446	T	0.48840	0.1522	L	0.44542	1.39	0.38406	D	0.945784	P;P;D;P	0.89917	0.881;0.504;1.0;0.637	P;B;D;P	0.87578	0.593;0.389;0.998;0.593	T	0.44574	-0.9319	9	.	.	.	-9.2554	18.264	0.90046	0.0:1.0:0.0:0.0	.	47;200;200;200	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	I	202;200;28;47;200;200;200	ENSP00000445822:T200I;ENSP00000444304:T28I;ENSP00000445425:T47I;ENSP00000314724:T200I;ENSP00000443442:T200I;ENSP00000228425:T200I	.	T	+	2	0	PPFIBP1	27694337	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.887000	0.63156	2.454000	0.82982	0.650000	0.86243	ACA		0.428	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		10	28	0	0	0	1	0	10	28				
LRRC6	23639	broad.mit.edu	37	8	133637655	133637655	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr8:133637655C>G	ENST00000519595.1	-	6	797	c.699G>C	c.(697-699)gaG>gaC	p.E233D	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.E233D|LRRC6_ENST00000518642.1_Missense_Mutation_p.E233D			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	233					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTTGTGTTCCTCTGTGTCTG	0.388																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(697-699)gaG>gaC		leucine rich repeat containing 6							196.0	192.0	193.0					8																	133637655		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133637655C>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.699G>C	8.37:g.133637655C>G	ENSP00000429791:p.Glu233Asp					LRRC6_ENST00000518642.1_Missense_Mutation_p.E233D|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.E233D	p.E233D			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		6	797	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		233					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.699G>C		.	.	.	.	.	.	.	.	.	.	C	9.143	1.014440	0.19277	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55234	0.69;0.53;0.69	5.07	-3.86	0.04230	.	0.549745	0.18649	N	0.135061	T	0.31263	0.0791	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07385	-1.0775	10	0.33940	T	0.23	-4.4386	6.5441	0.22397	0.1228:0.3514:0.0:0.5258	.	233	Q86X45	LRRC6_HUMAN	D	233	ENSP00000429791:E233D;ENSP00000428610:E233D;ENSP00000250173:E233D	ENSP00000250173:E233D	E	-	3	2	LRRC6	133706837	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.141000	0.03207	-1.043000	0.03258	-0.148000	0.13756	GAG		0.388	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		4	20	0	0	0	1	0	4	20				
GRIK5	2901	broad.mit.edu	37	19	42509903	42509903	+	Silent	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:42509903G>T	ENST00000262895.3	-	16	2234	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	GRIK5_ENST00000301218.4_Silent_p.T745T|GRIK5_ENST00000593562.1_Silent_p.T745T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	745					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGTAGCCCTTGGTGTCGAGGA	0.627																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2233-2235)acC>acA		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						95.0	65.0	75.0					19																	42509903		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42509903G>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2235C>A	19.37:g.42509903G>T						GRIK5_ENST00000301218.4_Silent_p.T745T|GRIK5_ENST00000593562.1_Silent_p.T745T	p.T745T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			16	2234	-		Prostate(69;0.059)	745					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.2235C>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371399	0.24771	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.23	4.12	0.48240	.	.	.	.	.	T	0.64549	0.2608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63019	-0.6730	4	.	.	.	.	13.4946	0.61416	0.0:0.0:0.8429:0.1571	.	.	.	.	K	122	.	.	Q	-	1	0	GRIK5	47201743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.698000	0.74608	2.450000	0.82876	0.563000	0.77884	CAA		0.627	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			17	29	1	0	3.99206e-14	1	4.60102e-14	17	29				
C7orf62	219557	broad.mit.edu	37	7	88423704	88423704	+	Missense_Mutation	SNP	G	G	T	rs202025178		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:88423704G>T	ENST00000297203.2	-	2	738	c.553C>A	c.(553-555)Ctt>Att	p.L185I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	185										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTGGCAAAGGTAGAGTGAC	0.428																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(553-555)Ctt>Att		chromosome 7 open reading frame 62							194.0	156.0	169.0					7																	88423704		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423704G>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.553C>A	7.37:g.88423704G>T	ENSP00000297203:p.Leu185Ile					ZNF804B_ENST00000333190.4_Intron	p.L185I	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	738	-			185						Missense_Mutation	SNP	ENST00000297203.2	37	c.553C>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185172	0.06340	.	.	ENSG00000164645	ENST00000297203	T	0.25912	1.77	6.16	3.23	0.37069	.	0.480616	0.21314	N	0.076592	T	0.24586	0.0596	L	0.61036	1.89	0.09310	N	1	B	0.27997	0.197	B	0.29524	0.103	T	0.18023	-1.0350	10	0.39692	T	0.17	-17.4804	7.0057	0.24836	0.0793:0.0:0.5549:0.3658	.	185	Q8TBZ9	CG062_HUMAN	I	185	ENSP00000297203:L185I	ENSP00000297203:L185I	L	-	1	0	C7orf62	88261640	0.060000	0.20803	0.009000	0.14445	0.041000	0.13682	0.090000	0.15025	0.357000	0.24183	0.650000	0.86243	CTT		0.428	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		7	102	1	0	2.0095e-06	1	2.13509e-06	7	102				
MGAM	8972	broad.mit.edu	37	7	141708409	141708409	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:141708409T>A	ENST00000549489.2	+	3	326	c.231T>A	c.(229-231)gaT>gaA	p.D77E	MGAM_ENST00000475668.2_Missense_Mutation_p.D77E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	77	Ser/Thr-rich.				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)	GTCCCCCAGATCCTGGAACAA	0.512																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(229-231)gaT>gaA		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						88.0	85.0	86.0					7																	141708409		1878	4108	5986	SO:0001583	missense	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.chr7:141708409T>A	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.231T>A	7.37:g.141708409T>A	ENSP00000447378:p.Asp77Glu					MGAM_ENST00000549489.2_Missense_Mutation_p.D77E	p.D77E			O43451	MGA_HUMAN			3	285	+	Melanoma(164;0.0272)		77			Ser/Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.231T>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	T	5.164	0.215796	0.09810	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.88046	-0.66;-2.33;0.79	1.22	1.22	0.21188	.	3.818040	0.00725	N	0.000905	T	0.73273	0.3566	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65405	-0.6176	10	0.02654	T	1	.	4.6095	0.12395	0.0:0.0:0.0:1.0	.	77	O43451	MGA_HUMAN	E	77	ENSP00000419372:D77E;ENSP00000447378:D77E;ENSP00000417103:D77E	ENSP00000373973:D77E	D	+	3	2	MGAM	141354878	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.918000	0.04021	0.806000	0.34183	0.533000	0.62120	GAT		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			25	31	0	0	0	1	0	25	31				
OR12D2	26529	broad.mit.edu	37	6	29365088	29365088	+	Silent	SNP	T	T	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:29365088T>C	ENST00000383555.2	+	1	673	c.612T>C	c.(610-612)atT>atC	p.I204I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGGGGACAATTGCCATGGGCC	0.443																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(610-612)atT>atC		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							158.0	161.0	160.0					6																	29365088		1511	2709	4220	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365088T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.612T>C	6.37:g.29365088T>C						OR5V1_ENST00000377154.1_Intron	p.I204I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	673	+			204					B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.612T>C	CCDS4659.1																																																																																				0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			7	146	0	0	0	1	0	7	146				
MST1L	11223	broad.mit.edu	37	1	17083843	17083843	+	RNA	SNP	C	C	G			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:17083843C>G	ENST00000455405.2	-	0	745							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CCTTTCAGGACCCAGCAGTTG	0.577																																						ENST00000455405.2																			0																																																			0							g.chr1:17083843C>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083843C>G														0	745	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	13.78	2.340678	0.41498	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38111	N	0.001814	T	0.64907	0.2641	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.69844	-0.5035	6	0.51188	T	0.08	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	.	652;678	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	L	652;678	.	ENSP00000439273:V652L	V	-	1	0	MST1P9	16956430	1.000000	0.71417	0.978000	0.43139	0.000000	0.00434	4.748000	0.62148	0.502000	0.28037	0.000000	0.15137	GTC		0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	15	0	0	0	1	0	3	15				
LRRC8E	80131	broad.mit.edu	37	19	7964528	7964528	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:7964528A>C	ENST00000306708.6	+	3	1222	c.1121A>C	c.(1120-1122)gAc>gCc	p.D374A	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	374					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GATCAGTACGACTCCCTCTAC	0.567																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(1120-1122)gAc>gCc		leucine rich repeat containing 8 family, member E							98.0	73.0	82.0					19																	7964528		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7964528A>C		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1121A>C	19.37:g.7964528A>C	ENSP00000306524:p.Asp374Ala					AC010336.1_ENST00000539278.1_3'UTR	p.D374A	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	1222	+			374					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.1121A>C	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046146	0.55110	.	.	ENSG00000171017	ENST00000306708	T	0.24723	1.84	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	M	0.83692	2.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.59473	-0.7448	10	0.87932	D	0	.	12.236	0.54516	1.0:0.0:0.0:0.0	.	374	Q6NSJ5	LRC8E_HUMAN	A	374	ENSP00000306524:D374A	ENSP00000306524:D374A	D	+	2	0	LRRC8E	7870528	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.133000	0.94460	1.999000	0.58509	0.454000	0.30748	GAC		0.567	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		36	1	0	0	0	1	0	36	1				
OR6K2	81448	broad.mit.edu	37	1	158670014	158670014	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:158670014C>A	ENST00000359610.2	-	1	472	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTTAAAGTCAGTTGGGTAC	0.463																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(427-429)ctG>ctT		olfactory receptor, family 6, subfamily K, member 2							120.0	106.0	111.0					1																	158670014		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670014C>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.429G>T	1.37:g.158670014C>A							p.L143L	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	472	-	all_hematologic(112;0.0378)		143					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.429G>T	CCDS30902.1																																																																																				0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		29	75	1	0	2.65835e-16	1	3.11668e-16	29	75				
ATP8B3	148229	broad.mit.edu	37	19	1802551	1802551	+	Missense_Mutation	SNP	T	T	A	rs142875994		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802551T>A	ENST00000310127.6	-	11	1236	c.998A>T	c.(997-999)aAc>aTc	p.N333I	ATP8B3_ENST00000526092.2_Missense_Mutation_p.N280I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.N280I|ATP8B3_ENST00000539485.1_Missense_Mutation_p.N333I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	333					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGAGGAGGTTGCCAATGTC	0.572																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(997-999)aAc>aTc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							135.0	145.0	142.0					19																	1802551		2120	4241	6361	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802551T>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.998A>T	19.37:g.1802551T>A	ENSP00000311336:p.Asn333Ile					ATP8B3_ENST00000526092.1_Missense_Mutation_p.N280I|ATP8B3_ENST00000310127.6_Missense_Mutation_p.N333I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.N280I	p.N333I			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1231	-		Hepatocellular(1079;0.137)	333					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.998A>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	t	17.69	3.451349	0.63290	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	3.72	3.72	0.42706	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.402668	0.29246	U	0.012703	D	0.95962	0.8685	H	0.95470	3.675	0.27284	N	0.958016	D;D;D	0.64830	0.988;0.994;0.979	P;D;P	0.63597	0.735;0.916;0.845	D	0.90421	0.4417	10	0.72032	D	0.01	.	4.5057	0.11887	0.0:0.2476:0.0:0.7524	.	280;333;280	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	I	333;333;280;280;280	ENSP00000311336:N333I;ENSP00000443574:N333I;ENSP00000437115:N280I;ENSP00000445204:N280I	ENSP00000311336:N333I	N	-	2	0	ATP8B3	1753551	0.997000	0.39634	0.969000	0.41365	0.900000	0.52787	2.017000	0.40981	1.569000	0.49696	0.370000	0.22315	AAC		0.572	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		11	21	0	0	0	1	0	11	21				
OR5T1	390155	broad.mit.edu	37	11	56043798	56043798	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr11:56043798C>A	ENST00000313033.2	+	1	770	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGTCCTGATCTCCTATGGTT	0.433																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(682-684)atC>atA		olfactory receptor, family 5, subfamily T, member 1							210.0	197.0	201.0					11																	56043798		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043798C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.684C>A	11.37:g.56043798C>A							p.I228I	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	770	+	Esophageal squamous(21;0.00448)		228					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.684C>A	CCDS31525.1																																																																																				0.433	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		37	152	1	0	1.21669e-08	1	1.33444e-08	37	152				
YARS	8565	broad.mit.edu	37	1	33245093	33245093	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:33245093C>A	ENST00000373477.4	-	12	2274	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	456	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GCCGGAGGGTCCAGAGGTTCA	0.542																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1366-1368)Gac>Tac		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						77.0	75.0	75.0					1																	33245093		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245093C>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1366G>T	1.37:g.33245093C>A	ENSP00000362576:p.Asp456Tyr					YARS_ENST00000469100.1_5'UTR	p.D456Y	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			12	2274	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	456			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1366G>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027977	0.93518	.	.	ENSG00000134684	ENST00000373477	T	0.73258	-0.73	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84206	0.5421	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.84516	0.0625	10	0.62326	D	0.03	-25.3858	20.1259	0.97981	0.0:1.0:0.0:0.0	.	456	P54577	SYYC_HUMAN	Y	456	ENSP00000362576:D456Y	ENSP00000362576:D456Y	D	-	1	0	YARS	33017680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.835000	0.97688	0.650000	0.86243	GAC		0.542	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		49	39	1	0	2.64894e-19	1	3.21657e-19	49	39				
TAS2R41	259287	broad.mit.edu	37	7	143175364	143175364	+	Silent	SNP	C	C	G			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:143175364C>G	ENST00000408916.1	+	1	399	c.399C>G	c.(397-399)ctC>ctG	p.L133L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	133					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGCCCTGGCTCCTGTTGGGCT	0.478																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(397-399)ctC>ctG		taste receptor, type 2, member 41							54.0	54.0	54.0					7																	143175364		1924	4139	6063	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175364C>G	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.399C>G	7.37:g.143175364C>G						EPHA1-AS1_ENST00000429289.1_RNA	p.L133L	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	399	+	Melanoma(164;0.15)		133					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.399C>G	CCDS43663.1																																																																																				0.478	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			14	56	0	0	0	1	0	14	56				
PLXNA2	5362	broad.mit.edu	37	1	208315676	208315677	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:208315676_208315677insTC	ENST00000367033.3	-	4	2260_2261	c.1503_1504insGA	c.(1501-1506)agacagfs	p.Q502fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	502	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCACTTACCTGTCTCTCAGACA	0.49																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1501-1506)agaggtfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315676_208315677insTC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1502_1503dupGA	1.37:g.208315681_208315682dupTC	ENSP00000356000:p.Gln502fs						p.G502fs	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2260_2261	-			502			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1503_1504insGA	CCDS31013.1																																																																																				0.490	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		17	72						17	72	---	---	---	---
AC010880.1	0	broad.mit.edu	37	2	16591406	16591408	+	lincRNA	DEL	CAT	CAT	-	rs546990327		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:16591406_16591408delCAT	ENST00000427950.1	+	0	157																											ccatcatgaccatcatcatcatc	0.404																																						ENST00000427950.1																			0																																																			0							g.chr2:16591406_16591408delCAT																													2.37:g.16591415_16591417delCAT														0	157	+									RNA	DEL	ENST00000427950.1	37																																																																																						0.404	AC010880.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323750.1			2	4						2	4	---	---	---	---
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	lincRNA	INS	-	-	A	rs71402229|rs56728844		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252																																						ENST00000417039.1																			0																																																			0							g.chr2:38710012_38710013insA																													2.37:g.38710018_38710018dupA														0	696	-									RNA	INS	ENST00000417039.1	37																																																																																						0.252	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			5	11						5	11	---	---	---	---
AC013463.2	0	broad.mit.edu	37	2	165905596	165905596	+	RNA	DEL	T	T	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:165905596delT	ENST00000431341.1	+	0	299																											TTATTTTTACTTTTTGGTCCG	0.294																																						ENST00000431341.1																			0																																																			0							g.chr2:165905596delT																													2.37:g.165905596delT														0	299	+									RNA	DEL	ENST00000431341.1	37																																																																																						0.294	AC013463.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000333398.1			2	4						2	4	---	---	---	---
LOC102546299	102546299	broad.mit.edu	37	5	164196998	164196999	+	RNA	INS	-	-	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr5:164196998_164196999insC	ENST00000519570.1	+	0	346				CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA																							gggaagcaaggaccttctttac	0.47																																						ENST00000519570.1																			0																																																			0							g.chr5:164196998_164196999insC																													5.37:g.164196998_164196999insC						CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA								0	346	+									RNA	INS	ENST00000519570.1	37																																																																																						0.470	CTC-340A15.2-009	KNOWN	basic	antisense	antisense	OTTHUMT00000376021.1			2	4						2	4	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6781178	6781178	+	RNA	DEL	A	A	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:6781178delA	ENST00000486256.1	+	0	1694					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		actctgtttcaaaaaaaaaga	0.403																																						ENST00000486256.1																			0																																																			0							g.chr7:6781178delA	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6781178delA								NR_002217.1						0	1694	+								B4DK88|Q764P1	RNA	DEL	ENST00000486256.1	37																																																																																						0.403	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		3	5						3	5	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75187513	75187515	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:75187513_75187515delCTT	ENST00000336926.6	-	15	1446_1448	c.1420_1422delAAG	c.(1420-1422)aagdel	p.K474del	HIP1_ENST00000434438.2_In_Frame_Del_p.K474del	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	474	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTCGCTGTACTTCTCCTTTAGC	0.552			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1420-1422)del		huntingtin interacting protein 1																																				SO:0001651	inframe_deletion	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75187513_75187515delCTT	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1420_1422delAAG	7.37:g.75187513_75187515delCTT	ENSP00000336747:p.Lys474del					HIP1_ENST00000434438.2_In_Frame_Del_p.K474del	p.K474del	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			15	1446_1448	-			474			pDED.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	In_Frame_Del	DEL	ENST00000336926.6	37	c.1420_1422delAAG	CCDS34669.1																																																																																				0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		35	42						35	42	---	---	---	---
CTD-2281E23.3	0	broad.mit.edu	37	8	1197070	1197070	+	lincRNA	DEL	T	T	-	rs71190708		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr8:1197070delT	ENST00000517950.1	-	0	311																											GATCAGTGTGTGGAGTGATGG	0.572																																						ENST00000517950.1																			0																																																			0							g.chr8:1197070delT																													8.37:g.1197070delT														0	311	-									RNA	DEL	ENST00000517950.1	37																																																																																						0.572	CTD-2281E23.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374676.1			2	4						2	4	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139327477	139327487	+	Frame_Shift_Del	DEL	TGGTCTTGATC	TGGTCTTGATC	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139327477_139327487delTGGTCTTGATC	ENST00000371712.3	-	5	1602_1612	c.1200_1210delGATCAAGACCA	c.(1198-1212)cagatcaagaccaagfs	p.IKTK401fs		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q400H(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAGGCCCCCTTGGTCTTGATCTGAGACACGA	0.611																																						ENST00000371712.3																			1	Substitution - Missense(1)	p.Q400H(1)	lung(1)	NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1198-1212)caagfs		inositol polyphosphate-5-phosphatase, 72 kDa																																				SO:0001589	frameshift_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139327477_139327487delTGGTCTTGATC	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1200_1210delGATCAAGACCA	9.37:g.139327477_139327487delTGGTCTTGATC	ENSP00000360777:p.Ile401fs						p.QIKTK400fs	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	5	1602_1612	-		Myeloproliferative disorder(178;0.0511)	400					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	ENST00000371712.3	37	c.1200_1210delGATCAAGACCA	CCDS7000.1																																																																																				0.611	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		11	30						11	30	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139333399	139333399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139333399delC	ENST00000371712.3	-	1	875	c.473delG	c.(472-474)ggtfs	p.G158fs	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GAGAGGGTTACCCCCCGAGGA	0.721																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(472-474)gtfs		inositol polyphosphate-5-phosphatase, 72 kDa							5.0	6.0	6.0					9																	139333399		2124	4174	6298	SO:0001589	frameshift_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333399delC	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.473delG	9.37:g.139333399delC	ENSP00000360777:p.Gly158fs						p.G158fs	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	875	-		Myeloproliferative disorder(178;0.0511)	158			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	ENST00000371712.3	37	c.473delG	CCDS7000.1																																																																																				0.721	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		2	4						2	4	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76883793	76883793	+	Splice_Site	DEL	G	G	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr11:76883793delG	ENST00000409709.3	+	16	2069		c.e16-1		MYO7A_ENST00000409893.1_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGTCCCCCCAGGGCGCCGAGA	0.687																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.e16-1		myosin VIIA							11.0	13.0	13.0					11																	76883793		1965	4021	5986	SO:0001630	splice_region_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76883793delG	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1798-1G>-	11.37:g.76883793delG						MYO7A_ENST00000458637.2_Splice_Site|MYO7A_ENST00000409893.1_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site		NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			16	2069	+								B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	DEL	ENST00000409709.3	37		CCDS53683.1																																																																																				0.687	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Intron	2	4						2	4	---	---	---	---
USP7	7874	broad.mit.edu	37	16	8999095	8999106	+	In_Frame_Del	DEL	GAACAGACAGGT	GAACAGACAGGT	-	rs372710211|rs146945749		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:8999095_8999106delGAACAGACAGGT	ENST00000344836.4	-	14	1709_1720	c.1511_1522delACCTGTCTGTTC	c.(1510-1524)gacctgtctgttcga>gga	p.504_508DLSVR>G	USP7_ENST00000535863.1_In_Frame_Del_p.405_409DLSVR>G|USP7_ENST00000381886.4_In_Frame_Del_p.488_492DLSVR>G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	504	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGCAGTGTCGAACAGACAGGTCGTCATCGTG	0.434											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1510-1524)gga>g		ubiquitin specific peptidase 7 (herpes virus-associated)																																				SO:0001651	inframe_deletion	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8999095_8999106delGAACAGACAGGT	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1511_1522delACCTGTCTGTTC	16.37:g.8999095_8999106delGAACAGACAGGT	ENSP00000343535:p.Asp504_Arg508delinsGly		OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	USP7_ENST00000381886.4_In_Frame_Del_p.DLSVR488del|USP7_ENST00000535863.1_In_Frame_Del_p.DLSVR405del	p.DLSVR504del	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			14	1709_1720	-			504					A6NMY8|B7Z815|H0Y3G8	In_Frame_Del	DEL	ENST00000344836.4	37	c.1511_1522delACCTGTCTGTTC	CCDS32385.1																																																																																				0.434	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			31	32						31	32	---	---	---	---
RP11-19N8.4	0	broad.mit.edu	37	16	33071230	33071232	+	lincRNA	DEL	AAT	AAT	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:33071230_33071232delAAT	ENST00000561541.1	-	0	291																											GATGGGAGAGAATAAGGAGGGCG	0.724																																						ENST00000561541.1																			0																																																			0							g.chr16:33071230_33071232delAAT																													16.37:g.33071230_33071232delAAT														0	291	-									RNA	DEL	ENST00000561541.1	37																																																																																						0.724	RP11-19N8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432096.1			2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	9						4	9	---	---	---	---
