#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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	236	0	0	0	0.009096	0	4	236				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	24	0	0	0	0.009096	0	3	24				
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.V474I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1873-1875)Gtc>Atc		mediator complex subunit 15							145.0	125.0	132.0					22																	20939211		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939211G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1873G>A	22.37:g.20939211G>A	ENSP00000263205:p.Val625Ile					MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.V559I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I	p.V625I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		15	1942	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	625					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1873G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010261	0.75046	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.72	4.72	0.59763	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.45422	1.42	0.80722	D	1	D;P;P;P;P;P	0.56287	0.975;0.883;0.789;0.858;0.939;0.883	P;B;B;B;B;B	0.47251	0.542;0.241;0.2;0.155;0.406;0.241	T	0.63629	-0.6594	9	0.87932	D	0	.	15.183	0.72975	0.0:0.0:1.0:0.0	.	555;604;241;559;585;625	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	I	474;585;625;559;514;559;555	.	ENSP00000263205:V625I	V	+	1	0	MED15	19269211	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	6.273000	0.72581	2.180000	0.69256	0.561000	0.74099	GTC		0.632	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		52	99	0	0	0	0.014410	0	52	99				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	72	0	0	0	0.004672	0	3	72				
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	rs147297854		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000586659.1	-	4	624	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000589359.1_Missense_Mutation_p.G104S|KANK2_ENST00000432929.2_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S|KANK2_ENST00000355150.5_Missense_Mutation_p.G104S			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(310-312)Ggc>Agc		KN motif and ankyrin repeat domains 2		C	SER/GLY,SER/GLY	0,4398		0,0,2199	45.0	49.0	48.0		310,310	4.4	1.0	19	dbSNP_134	48	1,8577		0,1,4288	no	missense,missense	KANK2	NM_001136191.2,NM_015493.6	56,56	0,1,6487	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	104/852,104/860	11304446	1,12975	2199	4289	6488	SO:0001583	missense	25959							g.chr19:11304446C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.310G>A	19.37:g.11304446C>T	ENSP00000465650:p.Gly104Ser					KANK2_ENST00000589894.1_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S|KANK2_ENST00000355150.5_Missense_Mutation_p.G104S	p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	670	-			104					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.310G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481065	0.63849	0.0	1.17E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39229	1.09;1.11	4.38	4.38	0.52667	.	0.074876	0.53938	D	0.000041	T	0.49660	0.1570	L	0.31065	0.9	0.46149	D	0.998897	D;P;D	0.89917	1.0;0.785;1.0	D;B;D	0.91635	0.999;0.114;0.99	T	0.35968	-0.9767	10	0.14656	T	0.56	-27.8474	15.7129	0.77644	0.0:1.0:0.0:0.0	.	104;104;104	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	S	104	ENSP00000395650:G104S;ENSP00000347276:G104S	ENSP00000347276:G104S	G	-	1	0	KANK2	11165446	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	6.332000	0.72934	1.986000	0.57962	0.462000	0.41574	GGC		0.667	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		31	76	0	0	0	0.004878	0	31	76				
LTBR	4055	broad.mit.edu	37	12	6494301	6494301	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6494301C>T	ENST00000228918.4	+	3	633	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.P84S|LTBR_ENST00000541102.1_5'UTR	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	103					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTGTGCCGCCCCTGTGACCC	0.637																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(307-309)Ccc>Tcc		lymphotoxin beta receptor (TNFR superfamily, member 3)							133.0	127.0	129.0					12																	6494301		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6494301C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.307C>T	12.37:g.6494301C>T	ENSP00000228918:p.Pro103Ser					LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000541102.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.P84S|LTBR_ENST00000546296.1_3'UTR	p.P103S	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			3	633	+			103					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.307C>T	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.242972	0.22796	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000536876	D;D;D	0.90955	-2.76;-2.76;-2.76	4.64	3.74	0.42951	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.424756	0.23560	N	0.046879	T	0.81283	0.4790	L	0.29908	0.895	0.80722	D	1	P;P;B	0.38597	0.639;0.606;0.433	B;B;B	0.35859	0.11;0.212;0.175	T	0.76621	-0.2892	10	0.18710	T	0.47	-4.6709	7.7217	0.28736	0.0:0.8869:0.0:0.1131	.	84;84;103	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	S	84;103;98	ENSP00000440875:P84S;ENSP00000228918:P103S;ENSP00000437647:P98S	ENSP00000228918:P103S	P	+	1	0	LTBR	6364562	0.934000	0.31675	1.000000	0.80357	0.854000	0.48673	1.068000	0.30629	2.108000	0.64289	0.561000	0.74099	CCC		0.637	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			31	257	0	0	0	0.004289	0	31	257				
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000358544.2	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000395996.1_Missense_Mutation_p.I1091V|VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3271-3273)Att>Gtt		vacuolar protein sorting 13 homolog B (yeast)							169.0	158.0	162.0					8																	100454689		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454689A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3271A>G	8.37:g.100454689A>G	ENSP00000351346:p.Ile1091Val					VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V	p.I1091V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3382	+	Breast(36;3.73e-07)		1091					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3271A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464060	0.63513	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46063	0.88;0.88;0.88	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	N	0.24115	0.695	0.49582	D	0.999808	P;D;D;P	0.59357	0.949;0.958;0.985;0.901	P;D;D;B	0.69307	0.63;0.963;0.952;0.433	T	0.39099	-0.9630	10	0.22109	T	0.4	.	15.9886	0.80183	1.0:0.0:0.0:0.0	.	1090;1091;1091;1091	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	V	1091	ENSP00000349685:I1091V;ENSP00000351346:I1091V;ENSP00000379318:I1091V	ENSP00000349685:I1091V	I	+	1	0	VPS13B	100523865	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.634000	0.91002	2.178000	0.69098	0.482000	0.46254	ATT		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	81	0	0	0	0.010729	0	9	81				
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	T	A	rs113036168		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCAATTAAGGTAACATTTTCA	0.318																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e32+2		carbamoyl-phosphate synthase 1, mitochondrial							83.0	78.0	80.0					2																	211525381		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211525381T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3927+2T>A	2.37:g.211525381T>A						CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site		NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	32	4123	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37		CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345601	0.82022	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0343	0.80612	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211233626	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.606000	0.82863	2.198000	0.70561	0.533000	0.62120	.		0.318	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	38	56	0	0	0	0.004289	0	38	56				
QKI	9444	broad.mit.edu	37	6	163984476	163984476	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:163984476C>G	ENST00000361752.3	+	6	1210	c.659C>G	c.(658-660)gCa>gGa	p.A220G	QKI_ENST00000453779.2_Missense_Mutation_p.A220G|QKI_ENST00000392127.2_Missense_Mutation_p.A220G|QKI_ENST00000275262.7_Missense_Mutation_p.A220G|QKI_ENST00000424802.3_Splice_Site_p.P212R|QKI_ENST00000361195.2_Splice_Site_p.P212R	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	220					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TCTCTTGCAGCAACAGCCCAG	0.507																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(658-660)gCa>gGa		QKI, KH domain containing, RNA binding							38.0	39.0	39.0					6																	163984476		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984476C>G	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.659C>G	6.37:g.163984476C>G	ENSP00000355094:p.Ala220Gly					QKI_ENST00000275262.7_Missense_Mutation_p.A220G|QKI_ENST00000392127.2_Missense_Mutation_p.A220G|QKI_ENST00000424802.3_Splice_Site_p.P212_splice|QKI_ENST00000361195.2_Splice_Site_p.P212_splice|QKI_ENST00000453779.2_Missense_Mutation_p.A220G	p.A220G	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1210	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	220					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.659C>G	CCDS5285.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.97|15.97|15.97	2.990868|2.990868|2.990868	0.54041|0.54041|0.54041	.|.|.	.|.|.	ENSG00000112531|ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000544823|ENST00000361195;ENST00000424802;ENST00000537041|ENST00000537883;ENST00000544361	.|T;T|.	.|0.18502|.	.|2.21;2.21|.	6.02|6.02|6.02	6.02|6.02|6.02	0.97574|0.97574|0.97574	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.68192|0.68192|0.68192	0.2974|0.2974|0.2974	L|L|L	0.59436|0.59436|0.59436	1.845|1.845|1.845	0.43863|0.43863|0.43863	D|D|D	0.996466|0.996466|0.996466	D;D;D;D|P;P|.	0.67145|0.41475|.	0.994;0.996;0.996;0.996|0.751;0.751|.	D;D;D;D|B;B|.	0.76071|0.32762|.	0.97;0.987;0.987;0.987|0.152;0.114|.	T|T|T	0.62492|0.62492|0.62492	-0.6843|-0.6843|-0.6843	9|9|5	0.25106|0.14656|.	T|T|.	0.35|0.56|.	-2.384|-2.384|-2.384	20.5407|20.5407|20.5407	0.99260|0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	220;220;220;220|212;212|.	Q96PU8;Q96PU8-9;Q96PU8-6;Q96PU8-8|Q96PU8-3;Q96PU8-5|.	QKI_HUMAN;.;.;.|.;.|.	G|R|R	220;220;220;220;165|212;212;157|116;53	.|ENSP00000354867:P212R;ENSP00000408382:P212R|.	ENSP00000275262:A220G|ENSP00000354867:P212R|.	A|P|S	+|+|+	2|2|3	0|0|2	QKI|QKI|QKI	163904466|163904466|163904466	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.919000|0.919000|0.919000	0.36401|0.36401|0.36401	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.865000|2.865000|2.865000	0.98341|0.98341|0.98341	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|CCA|AGC		0.507	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		8	46	0	0	0	0.003080	0	8	46				
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1783-1785)ttA>ttG		progesterone immunomodulatory binding factor 1							50.0	51.0	51.0					13																	73505357		2203	4298	6501	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73505357A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1785A>G	13.37:g.73505357A>G							p.L595L	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2123	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	595					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.1785A>G	CCDS31991.1																																																																																				0.318	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		13	56	0	0	0	0.003163	0	13	56				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	104	0	0	0	0.009096	0	3	104				
OTX2	5015	broad.mit.edu	37	14	57270920	57270920	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	ENST00000555006.1	-	3	643	c.235G>A	c.(235-237)Gag>Aag	p.E79K	OTX2_ENST00000408990.3_Missense_Mutation_p.E79K|OTX2_ENST00000339475.5_Missense_Mutation_p.E87K|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	79					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(259-261)Gag>Aag		orthodenticle homeobox 2							90.0	74.0	80.0					14																	57270920		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57270920C>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.235G>A	14.37:g.57270920C>T	ENSP00000452336:p.Glu79Lys					OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000408990.3_Missense_Mutation_p.E79K|OTX2_ENST00000555006.1_Missense_Mutation_p.E79K	p.E87K	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			4	535	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		79					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.259G>A	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	36	5.715279	0.96830	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.82	5.82	0.92795	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.44688	D	0.000431	D	0.98811	0.9599	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99537	1.0962	10	0.87932	D	0	.	17.603	0.88030	0.0:1.0:0.0:0.0	.	87;79	F1T0D1;P32243	.;OTX2_HUMAN	K	87;79;79;87;79	ENSP00000343819:E87K;ENSP00000386185:E79K;ENSP00000452336:E79K;ENSP00000451357:E87K;ENSP00000451272:E79K	ENSP00000343819:E87K	E	-	1	0	OTX2	56340673	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.805000	0.86005	2.745000	0.94114	0.655000	0.94253	GAG		0.572	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		7	46	0	0	0	0.001984	0	7	46				
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1339-1341)Act>Gct		egf-like module containing, mucin-like, hormone receptor-like 3							155.0	117.0	130.0					19																	14749062		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14749062T>C	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1339A>G	19.37:g.14749062T>C	ENSP00000253673:p.Thr447Ala					EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A	p.T447A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			11	1439	-			447						Missense_Mutation	SNP	ENST00000253673.5	37	c.1339A>G	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	7.099	0.573713	0.13623	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.24723	1.84;1.84;1.84	4.34	2.25	0.28309	GPCR, family 2-like (1);	.	.	.	.	T	0.27697	0.0681	L	0.31526	0.94	0.24908	N	0.992064	P;P;P	0.45902	0.655;0.828;0.868	P;B;P	0.52758	0.534;0.365;0.708	T	0.10291	-1.0636	9	0.72032	D	0.01	.	7.1925	0.25834	0.0:0.1875:0.0:0.8125	.	321;395;447	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	A	321;447;395	ENSP00000396208:T321A;ENSP00000253673:T447A;ENSP00000340758:T395A	ENSP00000253673:T447A	T	-	1	0	EMR3	14610062	1.000000	0.71417	0.743000	0.31040	0.002000	0.02628	2.421000	0.44688	0.225000	0.20959	-0.924000	0.02725	ACT		0.572	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		34	60	0	0	0	0.013726	0	34	60				
OR51G1	79324	broad.mit.edu	37	11	4944710	4944710	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:4944710G>A	ENST00000321961.2	-	1	927	c.860C>T	c.(859-861)cCc>cTc	p.P287L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	287						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(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCATAAGGGGTGGTACCAG	0.453																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(859-861)cCc>cTc		olfactory receptor, family 51, subfamily G, member 1							180.0	163.0	169.0					11																	4944710		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944710G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.860C>T	11.37:g.4944710G>A	ENSP00000322546:p.Pro287Leu					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.P287L	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	927	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	287					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.860C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682701	0.68157	.	.	ENSG00000176879	ENST00000321961	T	0.00337	8.05	4.53	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	U	0.001998	T	0.00724	0.0024	H	0.95437	3.67	0.52501	D	0.999952	P	0.34892	0.474	B	0.43867	0.434	T	0.43442	-0.9391	10	0.72032	D	0.01	.	11.1995	0.48733	0.0903:0.0:0.9097:0.0	.	287	Q8NGK1	O51G1_HUMAN	L	287	ENSP00000322546:P287L	ENSP00000322546:P287L	P	-	2	0	OR51G1	4901286	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	5.212000	0.65225	1.141000	0.42275	0.557000	0.71058	CCC		0.453	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		25	75	0	0	0	0.006320	0	25	75				
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	T	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197). {ECO:0000269|PubMed:15489334}.		ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388																																						ENST00000346234.6																			0				endometrium(1)|skin(1)	2						c.(475-477)ctT>ctG		osteoclast stimulating factor 1							172.0	146.0	155.0					9																	77752522		2203	4300	6503	SO:0001819	synonymous_variant	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77752522T>G	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.477T>G	9.37:g.77752522T>G							p.L159L	NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN			8	627	+			159		L -> F (in dbSNP:rs17850197).			Q5W126|Q96IJ4	Silent	SNP	ENST00000346234.6	37	c.477T>G	CCDS6651.1																																																																																				0.388	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		27	37	0	0	0	0.005443	0	27	37				
MTO1	25821	broad.mit.edu	37	6	74183326	74183326	+	Silent	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	ENST00000370300.4	+	4	864	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_ENST00000370305.1_Silent_p.P184P|MTO1_ENST00000498286.1_Silent_p.P258P|MTO1_ENST00000415954.2_Silent_p.P258P	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	258					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(772-774)ccG>ccA		mitochondrial tRNA translation optimization 1							84.0	80.0	82.0					6																	74183326		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74183326G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.774G>A	6.37:g.74183326G>A						MTO1_ENST00000415954.2_Silent_p.P258P|MTO1_ENST00000370300.4_Silent_p.P258P|MTO1_ENST00000370305.1_Silent_p.P184P	p.P258P			Q9Y2Z2	MTO1_HUMAN			4	1051	+			258					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.774G>A	CCDS4979.1																																																																																				0.423	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		27	45	0	0	0	0.006320	0	27	45				
GPKOW	27238	broad.mit.edu	37	X	48972594	48972594	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48972594G>A	ENST00000156109.5	-	7	1075	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	333						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTGTTTCCGCTTCCTCTCT	0.572																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(997-999)Cgg>Tgg		G patch domain and KOW motifs							231.0	170.0	190.0					X																	48972594		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48972594G>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.997C>T	X.37:g.48972594G>A	ENSP00000156109:p.Arg333Trp						p.R333W	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			7	1075	-			333					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.997C>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672398	0.67928	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.98	4.03	0.46877	.	0.107611	0.64402	D	0.000011	T	0.72350	0.3449	M	0.77103	2.36	0.39337	D	0.965518	D	0.89917	1.0	D	0.79108	0.992	T	0.76033	-0.3107	9	0.87932	D	0	-16.3276	8.6645	0.34112	0.0:0.0:0.7735:0.2265	.	333	Q92917	GPKOW_HUMAN	W	333	.	ENSP00000156109:R333W	R	-	1	2	GPKOW	48859538	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.757000	0.38400	2.393000	0.81446	0.585000	0.79938	CGG		0.572	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		19	86	0	0	0	0.010504	0	19	86				
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000356134.5	-	23	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000327087.8_Missense_Mutation_p.T792N|ANO2_ENST00000546188.1_Missense_Mutation_p.T793N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	797					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552																																						ENST00000356134.5																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2377-2379)aCc>aAc		anoctamin 2							89.0	94.0	92.0					12																	5687543		1979	4164	6143	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687543G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2378C>A	12.37:g.5687543G>T	ENSP00000348453:p.Thr793Asn					ANO2_ENST00000546188.1_Missense_Mutation_p.T793N|ANO2_ENST00000327087.8_Missense_Mutation_p.T792N	p.T793N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN			23	2449	-			797					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2378C>A		.	.	.	.	.	.	.	.	.	.	G	14.29	2.489852	0.44249	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.63255	-0.03;-0.03;-0.03	5.3	5.3	0.74995	.	0.060136	0.64402	D	0.000004	T	0.62696	0.2449	L	0.52011	1.625	0.41232	D	0.986584	P	0.39940	0.696	B	0.43838	0.433	T	0.67914	-0.5547	10	0.87932	D	0	.	14.4773	0.67554	0.0:0.0:0.8528:0.1472	.	792	Q9NQ90-3	.	N	792;793;793;797	ENSP00000314048:T792N;ENSP00000348453:T793N;ENSP00000440981:T793N	ENSP00000314048:T792N	T	-	2	0	ANO2	5557804	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.578000	0.67450	2.493000	0.84123	0.655000	0.94253	ACC		0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		18	90	1	0	1.87028e-06	0.012319	8.96177e-06	18	90				
HDAC6	10013	broad.mit.edu	37	X	48682404	48682404	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48682404G>T	ENST00000334136.5	+	27	3554	c.3376G>T	c.(3376-3378)Ggc>Tgc	p.G1126C	HDAC6_ENST00000376619.2_Missense_Mutation_p.G1126C|HDAC6_ENST00000444343.2_Missense_Mutation_p.G1140C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1126					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCTGCAGCAGGCCTAGACGT	0.542																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3376-3378)Ggc>Tgc		histone deacetylase 6	Vorinostat(DB02546)						94.0	83.0	86.0					X																	48682404		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48682404G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3376G>T	X.37:g.48682404G>T	ENSP00000334061:p.Gly1126Cys					HDAC6_ENST00000376619.2_Missense_Mutation_p.G1126C|HDAC6_ENST00000444343.2_Missense_Mutation_p.G1140C	p.G1126C			Q9UBN7	HDAC6_HUMAN			27	3554	+			1126					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.3376G>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.832834	0.71258	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.30448	1.53;1.53;1.53	5.18	3.28	0.37604	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;P	0.69142	0.897;0.946;0.962;0.855	T	0.49634	-0.8919	10	0.72032	D	0.01	-14.878	7.5001	0.27513	0.0975:0.1653:0.7372:0.0	.	1116;489;774;1126	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	C	1140;1126;1126	ENSP00000398566:G1140C;ENSP00000334061:G1126C;ENSP00000365804:G1126C	ENSP00000334061:G1126C	G	+	1	0	HDAC6	48567348	1.000000	0.71417	0.594000	0.28785	0.983000	0.72400	4.668000	0.61568	1.079000	0.41038	0.431000	0.28591	GGC		0.542	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		30	65	1	0	1.2476e-16	0.006320	6.06228e-16	30	65				
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000471498.1_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	202					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(604-606)Att>Gtt		eyes absent homolog 3 (Drosophila)							116.0	111.0	113.0					1																	28339787		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28339787T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.604A>G	1.37:g.28339787T>C	ENSP00000362978:p.Ile202Val					EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000471498.1_5'UTR	p.I202V			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	9	844	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	202					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.604A>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937636	0.52972	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;T;T;T	0.92858	-2.83;-3.12;-3.07;-1.38;-1.38;-1.38	5.45	5.45	0.79879	.	0.206525	0.51477	D	0.000096	D	0.93259	0.7852	L	0.40543	1.245	0.48087	D	0.999586	P;P;P	0.52061	0.876;0.897;0.95	D;P;P	0.64595	0.927;0.609;0.707	D	0.91779	0.5434	10	0.26408	T	0.33	-19.1909	15.8132	0.78581	0.0:0.0:0.0:1.0	.	156;156;202	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	202;76;46;156;149;156	ENSP00000362978:I202V;ENSP00000405587:I76V;ENSP00000362971:I46V;ENSP00000442558:I156V;ENSP00000442280:I149V;ENSP00000362970:I156V	ENSP00000362970:I156V	I	-	1	0	EYA3	28212374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.723000	0.54955	2.196000	0.70406	0.533000	0.62120	ATT		0.453	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		17	113	0	0	0	0.007413	0	17	113				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	7	0	0	0	0.010504	0	22	7				
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(178-180)atC>atT		ADAM metallopeptidase domain 20							127.0	97.0	107.0					14																	70991445		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991445G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.180C>T	14.37:g.70991445G>A						RP11-486O13.4_ENST00000556646.1_lincRNA	p.I60I	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	424	-			10					Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.180C>T	CCDS32111.1																																																																																				0.522	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			48	76	0	0	0	0.014410	0	48	76				
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(583-585)gGt>gCt		X-linked inhibitor of apoptosis							112.0	99.0	103.0					X																	123020096		2203	4300	6503	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123020096G>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.584G>C	X.37:g.123020096G>C	ENSP00000360242:p.Gly195Ala					XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A	p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	883	+			195					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.584G>C	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304603	0.23736	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.73681	-0.77;-0.77;-0.77	5.74	0.0126	0.14092	Baculoviral inhibition of apoptosis protein repeat (5);	0.576393	0.18138	N	0.150511	T	0.62938	0.2469	L	0.53561	1.675	0.09310	N	0.999999	B	0.20052	0.041	B	0.20767	0.031	T	0.49173	-0.8967	9	.	.	.	.	6.1416	0.20263	0.5:0.1319:0.3681:0.0	.	195	P98170	XIAP_HUMAN	A	195	ENSP00000395230:G195A;ENSP00000360242:G195A;ENSP00000347858:G195A	.	G	+	2	0	XIAP	122847777	0.104000	0.21937	0.996000	0.52242	0.984000	0.73092	0.570000	0.23653	0.007000	0.14760	-0.520000	0.04383	GGT		0.458	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		14	112	0	0	0	0.002450	0	14	112				
ACBD5	91452	broad.mit.edu	37	10	27524038	27524038	+	Silent	SNP	A	A	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:27524038A>C	ENST00000375888.1	-	2	343	c.279T>G	c.(277-279)ccT>ccG	p.P93P	RNU7-12P_ENST00000516030.1_RNA|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000396271.3_Silent_p.P95P			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTTCCAATAGGATCCCAAA	0.313																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(283-285)ccT>ccG		acyl-CoA binding domain containing 5							55.0	54.0	54.0					10																	27524038		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27524038A>C	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.279T>G	10.37:g.27524038A>C						ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000375888.1_Silent_p.P93P|ACBD5_ENST00000375897.3_Intron	p.P95P	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			3	411	-			93			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.285T>G																																																																																					0.313	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		5	52	0	0	0	0.001984	0	5	52				
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1099-1101)aaC>aaG		calmodulin binding transcription activator 1							96.0	95.0	96.0					1																	7723708		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723708C>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1101C>G	1.37:g.7723708C>G	ENSP00000306522:p.Asn367Lys					CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1308	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	367					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1101C>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.669168	0.29604	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.47869	0.83;0.83	4.92	2.99	0.34606	.	0.244848	0.39985	N	0.001214	T	0.36303	0.0962	L	0.50333	1.59	0.39559	D	0.969107	P	0.42871	0.792	B	0.37731	0.257	T	0.28808	-1.0032	10	0.56958	D	0.05	-18.1634	5.9511	0.19246	0.0:0.633:0.1483:0.2187	.	367	Q9Y6Y1	CMTA1_HUMAN	K	367	ENSP00000306522:N367K;ENSP00000402561:N367K	ENSP00000306522:N367K	N	+	3	2	CAMTA1	7646295	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.168000	0.31859	1.018000	0.39521	0.543000	0.68304	AAC		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		34	76	0	0	0	0.003755	0	34	76				
OBSCN	84033	broad.mit.edu	37	1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:228504445G>A	ENST00000422127.1	+	51	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A5398T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16192-16194)Gcg>Acg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12.0	16.0	15.0					1																	228504445		1985	4141	6126	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228504445G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13321G>A	1.37:g.228504445G>A	ENSP00000409493:p.Ala4441Thr					OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4441T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T	p.A5398T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			62	16266	+		Prostate(94;0.0405)	4441			Ig-like 51.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16192G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.773100	0.49680	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76060	-0.99;-0.99;0.14;0.65	5.14	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.577390	0.03472	N	0.213753	T	0.56321	0.1977	N	0.16708	0.43	0.09310	N	1	B;B	0.21381	0.0;0.055	B;B	0.10450	0.0;0.005	T	0.36456	-0.9747	10	0.21014	T	0.42	.	4.1581	0.10270	0.2792:0.0:0.4727:0.2481	.	4441;4441	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4441;4441;2075;1560	ENSP00000284548:A4441T;ENSP00000409493:A4441T;ENSP00000355668:A2075T;ENSP00000355670:A1560T	ENSP00000284548:A4441T	A	+	1	0	OBSCN	226571068	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.003000	0.29809	0.183000	0.20059	-0.247000	0.11927	GCG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	28	0	0	0	0.001984	0	5	28				
FGD4	121512	broad.mit.edu	37	12	32791723	32791723	+	Silent	SNP	C	C	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:32791723C>G	ENST00000427716.2	+	16	2461	c.2037C>G	c.(2035-2037)gcC>gcG	p.A679A	FGD4_ENST00000266482.3_Silent_p.A431A|FGD4_ENST00000525053.1_Silent_p.A791A|FGD4_ENST00000546442.1_Silent_p.A586A|FGD4_ENST00000534526.2_Silent_p.A816A|FGD4_ENST00000531134.1_Silent_p.A764A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTATGGTGCCCCCCAGGTAT	0.502																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2035-2037)gcC>gcG		FYVE, RhoGEF and PH domain containing 4							123.0	110.0	114.0					12																	32791723		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32791723C>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2037C>G	12.37:g.32791723C>G						FGD4_ENST00000534526.2_Silent_p.A816A|FGD4_ENST00000531134.1_Silent_p.A764A|FGD4_ENST00000546442.1_Silent_p.A586A|FGD4_ENST00000266482.3_Silent_p.A431A|FGD4_ENST00000525053.1_Silent_p.A791A	p.A679A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			16	2461	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		679			PH 2.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.2037C>G	CCDS8727.1																																																																																				0.502	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		16	67	0	0	0	0.004990	0	16	67				
MYO6	4646	broad.mit.edu	37	6	76602319	76602319	+	Missense_Mutation	SNP	C	C	T	rs143152727		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:76602319C>T	ENST00000369977.3	+	28	3158	c.3019C>T	c.(3019-3021)Cgc>Tgc	p.R1007C	MYO6_ENST00000369985.4_Missense_Mutation_p.R1007C|MYO6_ENST00000369981.3_Missense_Mutation_p.R1007C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1007C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1007	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAGCAGGAGCGCAGGGACCG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		14655	0.0		0.0	False		,,,				2504	0.001					ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3019-3021)Cgc>Tgc		myosin VI		C	CYS/ARG	0,4406		0,0,2203	77.0	82.0	80.0		3019	4.8	1.0	6	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO6	NM_004999.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1007/1286	76602319	1,13005	2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76602319C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3019C>T	6.37:g.76602319C>T	ENSP00000358994:p.Arg1007Cys					MYO6_ENST00000369977.3_Missense_Mutation_p.R1007C|MYO6_ENST00000369985.4_Missense_Mutation_p.R1007C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1007C	p.R1007C			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	28	3298	+		all_hematologic(105;0.189)	1007			Glu-rich.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3019C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163771	0.57476	0.0	1.16E-4	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.60424	2.09;2.56;2.09;2.09;0.19	5.65	4.77	0.60923	.	0.051963	0.85682	N	0.000000	T	0.64605	0.2613	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.79108	0.992;0.825	T	0.67917	-0.5546	10	0.49607	T	0.09	.	13.6825	0.62493	0.0:0.9246:0.0:0.0754	.	1007;1007	Q9UM54-2;Q9UM54-1	.;.	C	1007;1007;1007;1007;1007;70	ENSP00000358998:R1007C;ENSP00000359002:R1007C;ENSP00000358994:R1007C;ENSP00000358992:R1007C;ENSP00000399406:R70C	ENSP00000358992:R1007C	R	+	1	0	MYO6	76659039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.161000	0.42358	1.368000	0.46115	0.491000	0.48974	CGC		0.627	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		6	130	0	0	0	0.001168	0	6	130				
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTGTCACACAAAAGAACTGT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4837-4839)tTg>tAg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						40.0	37.0	38.0					X																	76889172		2202	4295	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889172A>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4838T>A	X.37:g.76889172A>T	ENSP00000362441:p.Leu1613*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*	p.L1613*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5052	-			1613			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4838T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	47	13.104150	0.99720	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.806	14.7118	0.69238	1.0:0.0:0.0:0.0	.	.	.	.	X	1613;1575	.	ENSP00000362441:L1613X	L	-	2	0	ATRX	76775828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.880000	0.92407	1.924000	0.55735	0.481000	0.45027	TTG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	37	0	0	0	0.002450	0	14	37				
APCS	325	broad.mit.edu	37	1	159557756	159557756	+	Silent	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:159557756G>A	ENST00000255040.2	+	1	142	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	15					acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAGCCTCCTGGAAGCCTTTG	0.473																																						ENST00000255040.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(43-45)ctG>ctA		amyloid P component, serum							109.0	101.0	103.0					1																	159557756		2203	4300	6503	SO:0001819	synonymous_variant	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159557756G>A		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.45G>A	1.37:g.159557756G>A							p.L15L	NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN			1	142	+	all_hematologic(112;0.0429)		15						Silent	SNP	ENST00000255040.2	37	c.45G>A	CCDS1186.1																																																																																				0.473	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		16	97	0	0	0	0.004990	0	16	97				
WDR11	55717	broad.mit.edu	37	10	122664218	122664218	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:122664218G>C	ENST00000263461.6	+	25	3334	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTATTACTGTGATTCACTGAA	0.418																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(3088-3090)Gat>Cat		WD repeat domain 11							138.0	125.0	129.0					10																	122664218		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122664218G>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3088G>C	10.37:g.122664218G>C	ENSP00000263461:p.Asp1030His					WDR11_ENST00000604509.1_3'UTR	p.D1030H	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			25	3334	+			1030					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.3088G>C	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127416	0.94473	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.95953	0.8682	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.997	D	0.94918	0.8071	10	0.48119	T	0.1	-31.2059	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1030;1030;321;559	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	H	1030	ENSP00000263461:D1030H	ENSP00000263461:D1030H	D	+	1	0	WDR11	122654208	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	9.434000	0.97515	2.836000	0.97738	0.655000	0.94253	GAT		0.418	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			10	109	0	0	0	0.008291	0	10	109				
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000479441.1	-	9	860	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000266039.3_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000435965.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTTGGGTGACGAGGCCCCCT	0.567																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(859-861)tcG>tcA		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						141.0	121.0	128.0					3																	50417431		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50417431C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.861G>A	3.37:g.50417431C>T						CACNA2D2_ENST00000266039.3_Silent_p.S287S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000479441.1_Silent_p.S287S	p.S287S			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	9	1034	-			287					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.861G>A	CCDS54588.1																																																																																				0.567	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		31	42	0	0	0	0.013726	0	31	42				
SMARCC2	6601	broad.mit.edu	37	12	56565546	56565546	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56565546C>T	ENST00000267064.4	-	20	2095	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.G701D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.G701D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.G701D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	670					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGGGTTGCCCGACTGACT	0.587																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2101-2103)gGc>gAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							97.0	87.0	90.0					12																	56565546		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56565546C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2009G>A	12.37:g.56565546C>T	ENSP00000267064:p.Gly670Asp					SMARCC2_ENST00000347471.4_Missense_Mutation_p.G701D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G701D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G670D	p.G701D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		21	2207	-			670					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2102G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459579	0.84317	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.44881	0.91;0.94;0.95	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	N	0.21583	0.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.999	T	0.53034	-0.8495	10	0.48119	T	0.1	-12.3615	16.2091	0.82146	0.0:1.0:0.0:0.0	.	590;701;705;670;701	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	701;701;701;670	ENSP00000449396:G701D;ENSP00000302919:G701D;ENSP00000267064:G670D	ENSP00000267064:G670D	G	-	2	0	SMARCC2	54851813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.433000	0.82419	0.655000	0.94253	GGC		0.587	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			4	133	0	0	0	0.009096	0	4	133				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	62	0	0	0	0.003330	0	23	62				
CACNG7	59284	broad.mit.edu	37	19	54445512	54445512	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:54445512C>T	ENST00000391767.1	+	6	1005	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	CACNG7_ENST00000222212.2_Missense_Mutation_p.P265S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	265				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CATCAAGTACCCGGACCACCT	0.682																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(793-795)Ccg>Tcg		calcium channel, voltage-dependent, gamma subunit 7							141.0	153.0	149.0					19																	54445512		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445512C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.793C>T	19.37:g.54445512C>T	ENSP00000375647:p.Pro265Ser					CACNG7_ENST00000222212.2_Missense_Mutation_p.P265S	p.P265S			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	6	1005	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		265	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.793C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037374	0.54896	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.63255	-0.03;-0.03	4.21	3.18	0.36537	.	0.073780	0.52532	D	0.000066	T	0.38532	0.1044	N	0.12182	0.205	0.80722	D	1	P	0.35745	0.518	B	0.30401	0.115	T	0.23297	-1.0192	10	0.36615	T	0.2	-19.1606	10.1315	0.42682	0.0:0.8983:0.0:0.1016	.	265	P62955	CCG7_HUMAN	S	265	ENSP00000375647:P265S;ENSP00000222212:P265S	ENSP00000222212:P265S	P	+	1	0	CACNG7	59137324	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.783000	0.55409	0.911000	0.36747	0.491000	0.48974	CCG		0.682	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			8	166	0	0	0	0.008291	0	8	166				
BEND2	139105	broad.mit.edu	37	X	18189326	18189326	+	Splice_Site	SNP	T	T	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:18189326T>A	ENST00000380033.4	-	13	2114		c.e13-2		BEND2_ENST00000380030.3_Splice_Site	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CAAAATAGCCTAGAAGCAAAA	0.358																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.e13-2		BEN domain containing 2							64.0	57.0	60.0					X																	18189326		2203	4300	6503	SO:0001630	splice_region_variant	139105							g.chrX:18189326T>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1982-2A>T	X.37:g.18189326T>A						BEND2_ENST00000380030.3_Splice_Site		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			13	2114	-								E9PFY2|Q4V9S2|Q5JXE5	Splice_Site	SNP	ENST00000380033.4	37		CCDS14184.1	.	.	.	.	.	.	.	.	.	.	T	8.265	0.811970	0.16537	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	.	.	.	5.31	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.39830	D	0.972969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6315	0.28243	0.0:0.1811:0.0:0.8189	.	.	.	.	.	-1	.	.	.	-	.	.	BEND2	18099247	1.000000	0.71417	0.008000	0.14137	0.019000	0.09904	4.928000	0.63447	0.195000	0.20347	-0.398000	0.06409	.		0.358	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	Intron	17	67	0	0	0	0.004990	0	17	67				
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000368445.5	-	1	350	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.L46V|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(136-138)Ctg>Gtg		SHC (Src homology 2 domain containing) transforming protein 1							23.0	24.0	24.0					1																	154942867		2187	4286	6473	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942867G>C	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.136C>G	1.37:g.154942867G>C	ENSP00000357430:p.Leu46Val					SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.L46V|SHC1_ENST00000368453.4_Intron	p.L46V	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	356	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		46					B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.136C>G	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923174	0.52653	.	.	ENSG00000160691	ENST00000368445;ENST00000448116	T;T	0.53423	0.62;0.62	4.37	2.48	0.30137	.	0.000000	0.64402	D	0.000016	T	0.51075	0.1653	M	0.70275	2.135	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72625	0.978;0.952	T	0.50056	-0.8872	10	0.31617	T	0.26	.	9.893	0.41300	0.1812:0.0:0.8188:0.0	.	46;46	P29353-6;P29353	.;SHC1_HUMAN	V	46	ENSP00000357430:L46V;ENSP00000401303:L46V	ENSP00000357430:L46V	L	-	1	2	SHC1	153209491	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	2.154000	0.42291	1.179000	0.42884	0.555000	0.69702	CTG		0.662	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		19	33	0	0	0	0.008871	0	19	33				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	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			5	44	0	0	0	0.000602	0	5	44				
EPCAM	4072	broad.mit.edu	37	2	47613720	47613720	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:47613720A>G	ENST00000263735.4	+	9	1271	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	EPCAM_ENST00000405271.1_Missense_Mutation_p.M333V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	305					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GATAAAGGAGATGGGTGAGAT	0.279																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(913-915)Atg>Gtg		epithelial cell adhesion molecule							72.0	75.0	74.0					2																	47613720		2202	4300	6502	SO:0001583	missense	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47613720A>G	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.913A>G	2.37:g.47613720A>G	ENSP00000263735:p.Met305Val					EPCAM_ENST00000405271.1_Missense_Mutation_p.M333V	p.M305V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN			9	1271	+			305					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.913A>G	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032939	0.54790	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.74209	-0.82;-0.8	5.37	5.37	0.77165	.	0.158104	0.64402	D	0.000002	T	0.78786	0.4338	M	0.77103	2.36	0.43412	D	0.995553	P;P	0.48089	0.905;0.905	P;P	0.47299	0.543;0.543	T	0.82194	-0.0578	10	0.72032	D	0.01	-40.4021	12.7407	0.57251	1.0:0.0:0.0:0.0	.	305;333	P16422;B5MCA4	EPCAM_HUMAN;.	V	333;305	ENSP00000385476:M333V;ENSP00000263735:M305V	ENSP00000263735:M305V	M	+	1	0	EPCAM	47467224	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.178000	0.65037	2.042000	0.60477	0.460000	0.39030	ATG		0.279	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			17	90	0	0	0	0.004990	0	17	90				
NEDD4	4734	broad.mit.edu	37	15	56134228	56134228	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:56134228T>C	ENST00000508342.1	-	15	3298	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	NEDD4_ENST00000506154.1_Missense_Mutation_p.K984R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K581R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K928R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1000	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATCCAATCCCTTTTCACCATC	0.433																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2998-3000)aAg>aGg		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							129.0	125.0	127.0					15																	56134228		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56134228T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2999A>G	15.37:g.56134228T>C	ENSP00000424827:p.Lys1000Arg					NEDD4_ENST00000338963.2_Missense_Mutation_p.K928R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K984R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K581R	p.K1000R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3298	-			1000			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2999A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.8|29.8	5.040399|5.040399	0.93630|0.93630	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.76709|.	-1.04;-1.04;-1.04;-1.04|.	6.17|6.17	6.17|6.17	0.99709|0.99709	HECT (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60715|0.60715	0.2290|0.2290	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.51791|.	0.948;0.108;0.013;0.108|.	P;B;B;B|.	0.54401|.	0.751;0.106;0.049;0.166|.	T|T	0.56420|0.56420	-0.7982|-0.7982	10|5	0.72032|.	D|.	0.01|.	.|.	16.0034|16.0034	0.80327|0.80327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	984;581;1000;928|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	R|G	1000;581;928;984|591	ENSP00000424827:K1000R;ENSP00000410613:K581R;ENSP00000345530:K928R;ENSP00000422705:K984R|.	ENSP00000345530:K928R|.	K|R	-|-	2|1	0|2	NEDD4|NEDD4	53921520|53921520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.937000|7.937000	0.87672|0.87672	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.433	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		3	113	0	0	0	0.009096	0	3	113				
GPR174	84636	broad.mit.edu	37	X	78427488	78427488	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:78427488G>C	ENST00000276077.1	+	1	1020	c.984G>C	c.(982-984)atG>atC	p.M328I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTCCACCATGACACCTGAAT	0.413										HNSCC(63;0.18)																												ENST00000276077.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(982-984)atG>atC		G protein-coupled receptor 174							66.0	58.0	61.0					X																	78427488		2203	4299	6502	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427488G>C	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.984G>C	X.37:g.78427488G>C	ENSP00000276077:p.Met328Ile	HNSCC(63;0.18)					p.M328I	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	1020	+			328					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.984G>C	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.201978	0.00025	.	.	ENSG00000147138	ENST00000276077	T	0.61510	0.1	4.44	2.66	0.31614	.	2.445180	0.02238	N	0.065469	T	0.38878	0.1057	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.29301	T	0.29	.	6.4436	0.21863	0.2377:0.0:0.7623:0.0	.	328	Q9BXC1	GP174_HUMAN	I	328	ENSP00000276077:M328I	ENSP00000276077:M328I	M	+	3	0	GPR174	78314144	0.002000	0.14202	0.010000	0.14722	0.035000	0.12851	1.177000	0.31969	0.199000	0.20427	0.534000	0.68092	ATG		0.413	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		10	87	0	0	0	0.008291	0	10	87				
RP1L1	94137	broad.mit.edu	37	8	10465064	10465064	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:10465064C>T	ENST00000382483.3	-	4	6767	c.6544G>A	c.(6544-6546)Gcc>Acc	p.A2182T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2262	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACACCT	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6544-6546)Gcc>Acc		retinitis pigmentosa 1-like 1							168.0	182.0	178.0					8																	10465064		1884	4104	5988	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465064C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6544G>A	8.37:g.10465064C>T	ENSP00000371923:p.Ala2182Thr						p.A2182T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6767	-			2182					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6544G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	1.528	-0.545158	0.04024	.	.	ENSG00000183638	ENST00000382483	T	0.08008	3.14	1.67	-3.34	0.04943	.	.	.	.	.	T	0.03520	0.0101	N	0.11560	0.145	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.42224	-0.9464	9	0.29301	T	0.29	.	4.7428	0.13022	0.0:0.3469:0.1626:0.4905	.	2182	A6NKC6	.	T	2182	ENSP00000371923:A2182T	ENSP00000371923:A2182T	A	-	1	0	RP1L1	10502474	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.017000	0.13399	-1.220000	0.02594	-1.423000	0.01107	GCC		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			70	364	0	0	0	0.014410	0	70	364				
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(481-483)tAt>tGt		blood vessel epicardial substance							164.0	164.0	164.0					6																	105573323		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573323T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.482A>G	6.37:g.105573323T>C	ENSP00000313172:p.Tyr161Cys					BVES_ENST00000336775.5_Missense_Mutation_p.Y161C|BVES_ENST00000446408.2_Missense_Mutation_p.Y161C	p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	698	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	161					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.482A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217329	0.79352	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.49139	0.79;0.79;0.79	5.76	5.76	0.90799	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72959	-0.4133	10	0.87932	D	0	-22.8392	16.0458	0.80720	0.0:0.0:0.0:1.0	.	161	Q8NE79	POPD1_HUMAN	C	161	ENSP00000313172:Y161C;ENSP00000337259:Y161C;ENSP00000397310:Y161C	ENSP00000313172:Y161C	Y	-	2	0	BVES	105680016	1.000000	0.71417	0.830000	0.32933	0.971000	0.66376	7.596000	0.82721	2.192000	0.70111	0.533000	0.62120	TAT		0.413	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		45	211	0	0	0	0.014410	0	45	211				
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	T	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(850-852)atT>atA		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							141.0	129.0	133.0					16																	26147050		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147050T>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.852T>A	16.37:g.26147050T>A						HS3ST4_ENST00000475436.1_3'UTR	p.I284I	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1244	+			284					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.852T>A	CCDS53995.1																																																																																				0.502	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		28	169	0	0	0	0.005524	0	28	169				
FUCA2	2519	broad.mit.edu	37	6	143823598	143823598	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:143823598A>G	ENST00000002165.6	-	4	912	c.857T>C	c.(856-858)cTt>cCt	p.L286P	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593045.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	286					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ATGTGGCAAAAGATGTCCTGG	0.458																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(856-858)cTt>cCt		fucosidase, alpha-L- 2, plasma							164.0	146.0	152.0					6																	143823598		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823598A>G	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.857T>C	6.37:g.143823598A>G	ENSP00000002165:p.Leu286Pro					RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron	p.L286P	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	4	912	-			286					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.857T>C	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587949	0.66105	.	.	ENSG00000001036	ENST00000002165	T	0.58652	0.32	5.8	3.42	0.39159	Glycoside hydrolase, family 29, conserved site (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.191182	0.46758	D	0.000262	T	0.63141	0.2486	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.64214	-0.6460	10	0.44086	T	0.13	-15.9928	10.1454	0.42760	0.8652:0.0:0.1348:0.0	.	286	Q9BTY2	FUCO2_HUMAN	P	286	ENSP00000002165:L286P	ENSP00000002165:L286P	L	-	2	0	FUCA2	143865291	1.000000	0.71417	0.001000	0.08648	0.999000	0.98932	7.175000	0.77632	0.468000	0.27243	0.533000	0.62120	CTT		0.458	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		3	172	0	0	0	0.009096	0	3	172				
PDIA6	10130	broad.mit.edu	37	2	10928839	10928839	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:10928839T>C	ENST00000272227.3	-	10	1129	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	PDIA6_ENST00000404824.2_Missense_Mutation_p.K376E|PDIA6_ENST00000404371.2_Missense_Mutation_p.K380E|PDIA6_ENST00000540494.1_Missense_Mutation_p.K325E|PDIA6_ENST00000381611.4_Missense_Mutation_p.K333E	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	328					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATTTTCTTTTTGTATTTGTCT	0.383																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1138-1140)Aaa>Gaa		protein disulfide isomerase family A, member 6							197.0	220.0	212.0					2																	10928839		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10928839T>C	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.982A>G	2.37:g.10928839T>C	ENSP00000272227:p.Lys328Glu					PDIA6_ENST00000404824.2_Missense_Mutation_p.K376E|PDIA6_ENST00000272227.3_Missense_Mutation_p.K328E|PDIA6_ENST00000381611.4_Missense_Mutation_p.K333E|PDIA6_ENST00000540494.1_Missense_Mutation_p.K325E	p.K380E			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	12	1475	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		328					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.1138A>G	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	T	31	5.095798	0.94197	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	6.17	6.17	0.99709	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.997	D;D;D;D	0.79108	0.983;0.992;0.982;0.98	T	0.62742	-0.6790	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	325;376;380;328	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	E	328;380;376;325;333	ENSP00000272227:K328E;ENSP00000385385:K380E;ENSP00000384459:K376E;ENSP00000438778:K325E;ENSP00000371024:K333E	ENSP00000272227:K328E	K	-	1	0	PDIA6	10846290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.831000	0.86748	2.371000	0.80710	0.533000	0.62120	AAA		0.383	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		82	375	0	0	0	0.014410	0	82	375				
THSD7B	80731	broad.mit.edu	37	2	138425373	138425373	+	Missense_Mutation	SNP	G	G	A	rs372041308		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:138425373G>A	ENST00000409968.1	+	27	4859	c.4681G>A	c.(4681-4683)Gtt>Att	p.V1561I	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1564I|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1533I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1563						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTATGGCGTTTCAGGTGG	0.343																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4681-4683)Gtt>Att		thrombospondin, type I, domain containing 7B		G	ILE/VAL	0,3742		0,0,1871	137.0	129.0	132.0		4594	4.5	1.0	2		132	1,8213		0,1,4106	no	missense	THSD7B	NM_001080427.1	29	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	benign	1532/1578	138425373	1,11955	1871	4107	5978	SO:0001583	missense	80731							g.chr2:138425373G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4681G>A	2.37:g.138425373G>A	ENSP00000387145:p.Val1561Ile					THSD7B_ENST00000413152.2_Missense_Mutation_p.V1533I|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1564I	p.V1561I						BRCA - Breast invasive adenocarcinoma(221;0.19)	27	4859	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4681G>A		.	.	.	.	.	.	.	.	.	.	.	16.01	3.002778	0.54254	0.0	1.22E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.26373	2.25;2.13;1.74	5.38	4.48	0.54585	.	0.120246	0.56097	D	0.000029	T	0.21718	0.0523	L	0.41492	1.28	0.40189	D	0.977382	B	0.20550	0.046	B	0.14578	0.011	T	0.04242	-1.0966	10	0.54805	T	0.06	.	12.1923	0.54278	0.079:0.0:0.9209:0.0	.	1533	C9JKN6	.	I	1561;1564;1533	ENSP00000387145:V1561I;ENSP00000272643:V1564I;ENSP00000413841:V1533I	ENSP00000272643:V1564I	V	+	1	0	THSD7B	138141843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.600000	0.54052	2.704000	0.92352	0.650000	0.86243	GTT		0.343	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		6	29	0	0	0	0.003080	0	6	29				
MYBBP1A	10514	broad.mit.edu	37	17	4445912	4445912	+	Splice_Site	SNP	G	G	A	rs567715978	byFrequency	TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:4445912G>A	ENST00000254718.4	-	21	3323	c.3017C>T	c.(3016-3018)cCg>cTg	p.P1006L	MYBBP1A_ENST00000381556.2_Splice_Site_p.P1006L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1006					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACACTCACCGGGTGCCGGGA	0.637													G|||	3	0.000599042	0.0	0.0	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0031					ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.e21+1		MYB binding protein (P160) 1a							96.0	95.0	96.0					17																	4445912		2203	4300	6503	SO:0001630	splice_region_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445912G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3018+1C>T	17.37:g.4445912G>A						MYBBP1A_ENST00000381556.2_Splice_Site_p.P1006_splice	p.P1006_splice			Q9BQG0	MBB1A_HUMAN			21	3323	-			1006					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Splice_Site	SNP	ENST00000254718.4	37	c.3018_splice	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952499	0.92660	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.57907	0.37;0.38	5.53	5.53	0.82687	Armadillo-type fold (1);	0.051591	0.85682	D	0.000000	T	0.71091	0.3299	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72030	-0.4413	10	0.52906	T	0.07	-40.7912	14.9545	0.71101	0.0:0.0:1.0:0.0	.	1006;1006	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	L	1006	ENSP00000370968:P1006L;ENSP00000254718:P1006L	ENSP00000254718:P1006L	P	-	2	0	MYBBP1A	4392661	1.000000	0.71417	0.994000	0.49952	0.806000	0.45545	8.578000	0.90777	2.610000	0.88304	0.655000	0.94253	CCG		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	Missense_Mutation	17	88	0	0	0	0.004990	0	17	88				
P2RX3	5024	broad.mit.edu	37	11	57135524	57135524	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:57135524G>A	ENST00000263314.2	+	9	918	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	295					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGTGAGTACCGCACCCTCCTG	0.577																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(883-885)cGc>cAc		purinergic receptor P2X, ligand-gated ion channel, 3							98.0	91.0	94.0					11																	57135524		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57135524G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.884G>A	11.37:g.57135524G>A	ENSP00000263314:p.Arg295His						p.R295H	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			9	918	+			295					Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.884G>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396133	0.96009	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.14022	2.54	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.92555	3.32	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.58126	-0.7691	10	0.87932	D	0	-25.6283	17.5802	0.87965	0.0:0.0:1.0:0.0	.	295	P56373	P2RX3_HUMAN	H	295	ENSP00000263314:R295H	ENSP00000263314:R295H	R	+	2	0	P2RX3	56892100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.880000	0.87243	2.894000	0.99253	0.655000	0.94253	CGC		0.577	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		5	99	0	0	0	0.001168	0	5	99				
DGAT2L6	347516	broad.mit.edu	37	X	69424364	69424364	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:69424364T>A	ENST00000333026.3	+	6	957	c.857T>A	c.(856-858)gTt>gAt	p.V286D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	286					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTACCACTGTTGGTGAGCTT	0.502																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(856-858)gTt>gAt		diacylglycerol O-acyltransferase 2-like 6							68.0	63.0	65.0					X																	69424364		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424364T>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.857T>A	X.37:g.69424364T>A	ENSP00000328036:p.Val286Asp						p.V286D	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			6	957	+			286					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.857T>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454554	0.84209	.	.	ENSG00000184210	ENST00000333026	T	0.26518	1.73	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000009	T	0.63058	0.2479	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74719	-0.3570	10	0.72032	D	0.01	-7.6613	11.5384	0.50653	0.0:0.0:0.0:1.0	.	286	Q6ZPD8	DG2L6_HUMAN	D	286	ENSP00000328036:V286D	ENSP00000328036:V286D	V	+	2	0	DGAT2L6	69341089	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.102000	0.77005	1.852000	0.53769	0.486000	0.48141	GTT		0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		18	92	0	0	0	0.007413	0	18	92				
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CATTCACCAGAGGGTCCCCTG	0.488																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(640-642)agA>agC		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						126.0	124.0	125.0					8																	19811731		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811731A>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.642A>C	8.37:g.19811731A>C	ENSP00000309757:p.Arg214Ser						p.R214S	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1112	+			214					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.642A>C	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528628	0.64860	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.90324	-2.65	6.17	-1.84	0.07809	Lipase, N-terminal (1);	0.084191	0.85682	N	0.000000	D	0.90546	0.7037	L	0.46567	1.45	0.41022	D	0.985081	D	0.89917	1.0	D	0.97110	1.0	D	0.87592	0.2491	8	.	.	.	-35.532	6.6252	0.22826	0.4349:0.0:0.4364:0.1287	.	214	P06858	LIPL_HUMAN	S	214;138;200	ENSP00000309757:R214S	.	R	+	3	2	LPL	19856011	0.996000	0.38824	0.977000	0.42913	0.411000	0.31082	0.383000	0.20651	-0.536000	0.06298	-0.250000	0.11733	AGA		0.488	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			26	140	0	0	0	0.005443	0	26	140				
TRH	7200	broad.mit.edu	37	3	129695936	129695936	+	Silent	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:129695936C>T	ENST00000302649.3	+	3	1133	c.606C>T	c.(604-606)gcC>gcT	p.A202A	TRH_ENST00000507066.1_Silent_p.A198A	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	202					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCAGGGAGCCTATGGTCAAG	0.652																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(604-606)gcC>gcT		thyrotropin-releasing hormone							24.0	28.0	26.0					3																	129695936		2203	4297	6500	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695936C>T		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.606C>T	3.37:g.129695936C>T						TRH_ENST00000507066.1_Silent_p.A198A	p.A202A	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1133	+			202					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.606C>T	CCDS3066.1																																																																																				0.652	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		11	46	0	0	0	0.010729	0	11	46				
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(241-243)tGt>tAt		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						114.0	114.0	114.0					11																	60230557		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230557G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.242G>A	11.37:g.60230557G>A	ENSP00000433277:p.Cys81Tyr					MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y	p.C81Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			3	531	+			81					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.242G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245825	0.59103	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000533306;ENST00000389939	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.84	4.92	0.64577	.	0.311720	0.35585	N	0.003118	T	0.06416	0.0165	L	0.52573	1.65	0.41585	D	0.988767	D;D;D	0.61080	0.975;0.989;0.989	P;P;P	0.61070	0.832;0.883;0.883	T	0.53521	-0.8427	10	0.12103	T	0.63	-15.5686	12.9933	0.58632	0.0:0.162:0.838:0.0	.	81;81;81	E9PKH8;A8K803;P11836	.;.;CD20_HUMAN	Y	81;81;81;84;81	ENSP00000314620:C81Y;ENSP00000433519:C81Y;ENSP00000433277:C81Y;ENSP00000437002:C84Y;ENSP00000374589:C81Y	ENSP00000314620:C81Y	C	+	2	0	MS4A1	59987133	0.935000	0.31712	0.997000	0.53966	0.912000	0.54170	0.688000	0.25422	1.477000	0.48234	0.655000	0.94253	TGT		0.502	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			21	158	0	0	0	0.005443	0	21	158				
RYR1	6261	broad.mit.edu	37	19	38958451	38958451	+	Splice_Site	SNP	G	G	A	rs545579559		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:38958451G>A	ENST00000359596.3	+	25	3380	c.3380G>A	c.(3379-3381)cGc>cAc	p.R1127H	RYR1_ENST00000355481.4_Splice_Site_p.R1127H|RYR1_ENST00000360985.3_Splice_Site_p.R1127H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1127	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.		R -> H (in MHS1). {ECO:0000269|PubMed:20681998}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AATGGGCACCGCGTGGGTACC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.001					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e25+1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						63.0	46.0	52.0					19																	38958451		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958451G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3381+1G>A	19.37:g.38958451G>A						RYR1_ENST00000360985.3_Splice_Site_p.R1127_splice|RYR1_ENST00000359596.3_Splice_Site_p.R1127_splice	p.R1127_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3511	+	all_cancers(60;7.91e-06)		1127			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.3381_splice	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	14.56	2.572261	0.45798	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75260	-0.92;-0.92;-0.92	3.5	3.5	0.40072	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.082901	0.43260	U	0.000596	D	0.87124	0.6099	M	0.93638	3.44	0.35835	D	0.825612	D;D	0.89917	1.0;0.999	D;D	0.66084	0.909;0.941	D	0.91037	0.4868	10	0.52906	T	0.07	.	10.5159	0.44889	0.102:0.0:0.898:0.0	.	1127;1127	P21817-2;P21817	.;RYR1_HUMAN	H	1127	ENSP00000352608:R1127H;ENSP00000347667:R1127H;ENSP00000354254:R1127H	ENSP00000347667:R1127H	R	+	2	0	RYR1	43650291	1.000000	0.71417	0.990000	0.47175	0.889000	0.51656	3.900000	0.56295	1.972000	0.57404	0.403000	0.27427	CGC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	7	44	0	0	0	0.001984	0	7	44				
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(331-333)tcT>tcC		ribosomal protein S6 kinase, 90kDa, polypeptide 6							35.0	32.0	33.0					X																	83403057		2200	4292	6492	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83403057A>G	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.333T>C	X.37:g.83403057A>G						RPS6KA6_ENST00000543399.1_Silent_p.S111S	p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			4	340	-			111			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.333T>C	CCDS14451.1																																																																																				0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		16	25	0	0	0	0.004007	0	16	25				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	128	0	0	0	0.000602	0	4	128				
ASTN2	23245	broad.mit.edu	37	9	119770407	119770407	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:119770407T>C	ENST00000313400.4	-	7	1655	c.1555A>G	c.(1555-1557)Aca>Gca	p.T519A	ASTN2_ENST00000361209.2_Missense_Mutation_p.T468A|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.T519A			O75129	ASTN2_HUMAN	astrotactin 2	519	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGCATCTGTCGTCCTTTGT	0.577																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1555-1557)Aca>Gca		astrotactin 2							89.0	82.0	84.0					9																	119770407		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119770407T>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1555A>G	9.37:g.119770407T>C	ENSP00000314038:p.Thr519Ala					ASTN2_ENST00000373996.3_Missense_Mutation_p.T519A|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.T468A	p.T519A			O75129	ASTN2_HUMAN			7	1655	-			519			EGF-like 1.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1555A>G		.	.	.	.	.	.	.	.	.	.	T	16.30	3.083406	0.55861	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.12147	2.88;2.88;2.71;2.91	5.67	5.67	0.87782	.	0.126063	0.52532	D	0.000062	T	0.19725	0.0474	N	0.24115	0.695	0.48135	D	0.999594	P;D;P	0.62365	0.952;0.991;0.853	P;P;P	0.57425	0.718;0.82;0.613	T	0.03139	-1.1068	9	.	.	.	-8.7191	15.9271	0.79628	0.0:0.0:0.0:1.0	.	468;519;519	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	A	519;519;246;468	ENSP00000314038:T519A;ENSP00000363108:T519A;ENSP00000363098:T246A;ENSP00000354504:T468A	.	T	-	1	0	ASTN2	118810228	1.000000	0.71417	0.924000	0.36721	0.959000	0.62525	6.055000	0.71103	2.159000	0.67721	0.533000	0.62120	ACA		0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		3	99	0	0	0	0.004672	0	3	99				
TFAP2E	339488	broad.mit.edu	37	1	36039564	36039565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:36039564_36039565insC	ENST00000373235.3	+	2	272_273	c.64_65insC	c.(64-66)gccfs	p.A22fs	RP4-728D4.2_ENST00000444348.1_RNA|RP4-728D4.2_ENST00000425881.1_RNA	NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCGGCGGGGCCCGCCTGTCG	0.733																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(64-66)ccgfs		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)																																				SO:0001589	frameshift_variant	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36039564_36039565insC	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.67dupC	1.37:g.36039567_36039567dupC	ENSP00000362332:p.Ala22fs					RP4-728D4.2_ENST00000444348.1_RNA	p.P22fs	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			2	272_273	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	22			Gln/Pro-rich (transactivation domain).			Frame_Shift_Ins	INS	ENST00000373235.3	37	c.64_65insC	CCDS393.2																																																																																				0.733	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		4	5						4	5	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	3061736	3061738	+	lincRNA	DEL	TGG	TGG	-	rs372369034|rs369344716		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:3061736_3061738delTGG	ENST00000457478.1	-	0	438																											gcaaagatgatggtggtggtggt	0.493																																						ENST00000457478.1																			0																																																			0							g.chr2:3061736_3061738delTGG																													2.37:g.3061745_3061747delTGG														0	438	-									RNA	DEL	ENST00000457478.1	37																																																																																						0.493	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			3	4						3	4	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			3	3						3	3	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)attfs	p.I53fs	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(157-159)ttfs		protein phosphatase 1, regulatory subunit 10							108.0	105.0	106.0					6																	30576891		1511	2709	4220	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30576891delT	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.157delA	6.37:g.30576891delT	ENSP00000365694:p.Ile53fs						p.I53fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			4	709	-			53			Interaction with TOX4 (By similarity).		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.157delA	CCDS4681.1																																																																																				0.468	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		41	85						41	85	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785					ENST00000411440.2																			0																																																			0							g.chr9:135962465delT	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT								NR_001275.2						0	972	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	3						3	3	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868215_110868216delGT																													12.37:g.110868225_110868226delGT														0	97	-									RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			3	6						3	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
