#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
PTPRD	5789	broad.mit.edu	37	9	8633423	8633423	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:8633423G>A	ENST00000381196.4	-	11	789	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PTPRD_ENST00000358503.5_Silent_p.L82L|PTPRD_ENST00000355233.5_Silent_p.L82L|PTPRD_ENST00000486161.1_Silent_p.L82L|PTPRD_ENST00000397617.3_Silent_p.L82L|PTPRD_ENST00000540109.1_Silent_p.L82L|PTPRD_ENST00000397606.3_Silent_p.L82L|PTPRD_ENST00000356435.5_Silent_p.L82L|PTPRD_ENST00000397611.3_Silent_p.L82L|PTPRD_ENST00000463477.1_Silent_p.L82L|PTPRD_ENST00000537002.1_Silent_p.L82L|PTPRD_ENST00000360074.4_Silent_p.L82L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	82	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTATTCTGAGAACTGATC	0.428										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(244-246)ctC>ctT		protein tyrosine phosphatase, receptor type, D							126.0	108.0	114.0					9																	8633423		2203	4299	6502	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633423G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.246C>T	9.37:g.8633423G>A		TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Silent_p.L82L|PTPRD_ENST00000537002.1_Silent_p.L82L|PTPRD_ENST00000486161.1_Silent_p.L82L|PTPRD_ENST00000356435.5_Silent_p.L82L|PTPRD_ENST00000355233.5_Silent_p.L82L|PTPRD_ENST00000360074.4_Silent_p.L82L|PTPRD_ENST00000397606.3_Silent_p.L82L|PTPRD_ENST00000397611.3_Silent_p.L82L|PTPRD_ENST00000397617.3_Silent_p.L82L|PTPRD_ENST00000463477.1_Silent_p.L82L|PTPRD_ENST00000358503.5_Silent_p.L82L	p.L82L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	789	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	82			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.246C>T	CCDS43786.1																																																																																				0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			20	13	0	0	0	1	0	20	13				
KIF24	347240	broad.mit.edu	37	9	34256165	34256165	+	Missense_Mutation	SNP	T	T	C	rs36062910		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:34256165T>C	ENST00000402558.2	-	10	3464	c.3440A>G	c.(3439-3441)gAg>gGg	p.E1147G	KIF24_ENST00000379166.2_Missense_Mutation_p.E1147G|KIF24_ENST00000379174.3_Missense_Mutation_p.E1013G|KIF24_ENST00000345050.2_Missense_Mutation_p.E1013G			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1147					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TAGGTCTGCCTCCCTGCTGGG	0.572																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3439-3441)gAg>gGg		kinesin family member 24							45.0	38.0	40.0					9																	34256165		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256165T>C	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3440A>G	9.37:g.34256165T>C	ENSP00000384433:p.Glu1147Gly					KIF24_ENST00000345050.2_Missense_Mutation_p.E1013G|KIF24_ENST00000402558.2_Missense_Mutation_p.E1147G|KIF24_ENST00000379174.3_Missense_Mutation_p.E1013G	p.E1147G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3559	-			1147					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3440A>G	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055301	0.36277	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.72942	-0.47;-0.7;-0.47;-0.7	5.01	5.01	0.66863	.	0.306463	0.23760	N	0.044836	T	0.65281	0.2676	M	0.64997	1.995	0.23716	N	0.997037	P	0.44627	0.839	B	0.38562	0.276	T	0.63607	-0.6599	9	.	.	.	.	11.028	0.47757	0.0:0.0:0.0:1.0	.	1147	Q5T7B8	KIF24_HUMAN	G	1147;1013;1147;1013	ENSP00000384433:E1147G;ENSP00000368472:E1013G;ENSP00000368464:E1147G;ENSP00000340179:E1013G	.	E	-	2	0	KIF24	34246165	0.001000	0.12720	0.735000	0.30896	0.097000	0.18754	0.391000	0.20784	2.114000	0.64651	0.533000	0.62120	GAG		0.572	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			15	23	0	0	0	1	0	15	23				
SPATA31D1	389763	broad.mit.edu	37	9	84609437	84609437	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:84609437G>T	ENST00000344803.2	+	4	4099	c.4052G>T	c.(4051-4053)aGa>aTa	p.R1351I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1351					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AACCTTTTCAGAAAATGGATG	0.443																																						ENST00000344803.2																			0											c.(4051-4053)aGa>aTa		SPATA31 subfamily D, member 1							24.0	22.0	22.0					9																	84609437		1852	4083	5935	SO:0001583	missense	389763							g.chr9:84609437G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4052G>T	9.37:g.84609437G>T	ENSP00000341988:p.Arg1351Ile						p.R1351I	NM_001001670.2	NP_001001670.1					4	4099	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.4052G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791620	0.16258	.	.	ENSG00000214929	ENST00000344803	T	0.13196	2.61	3.07	-0.0547	0.13813	.	.	.	.	.	T	0.07683	0.0193	N	0.19112	0.55	0.09310	N	1	P	0.45126	0.851	B	0.40134	0.32	T	0.24941	-1.0146	9	0.72032	D	0.01	3.7052	3.7905	0.08718	0.1266:0.0:0.4499:0.4235	.	1351	Q6ZQQ2	F75D1_HUMAN	I	1351	ENSP00000341988:R1351I	ENSP00000341988:R1351I	R	+	2	0	FAM75D1	83799257	0.079000	0.21365	0.000000	0.03702	0.001000	0.01503	1.178000	0.31981	-0.010000	0.14271	-0.192000	0.12808	AGA		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	9	1	0	5.18039e-06	1	5.30087e-06	7	9				
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:20156713C>A	ENST00000379607.5	-	2	247	c.44G>T	c.(43-45)gGt>gTt	p.G15V	EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(43-45)gGt>gTt		eukaryotic translation initiation factor 1A, X-linked							164.0	152.0	156.0					X																	20156713		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156713C>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.44G>T	X.37:g.20156713C>A	ENSP00000368927:p.Gly15Val					EIF1AX_ENST00000379593.1_Intron	p.G15V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	247	-			15					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.44G>T	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274834	0.59649	.	.	ENSG00000173674	ENST00000379607	T	0.39787	1.06	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.76090	0.3939	H	0.96175	3.78	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.85227	0.1030	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	V	15	ENSP00000368927:G15V	ENSP00000368927:G15V	G	-	2	0	EIF1AX	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			13	2	1	0	7.03913e-09	1	7.37432e-09	13	2				
ACAN	176	broad.mit.edu	37	15	89382142	89382142	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382142C>A	ENST00000561243.1	+	2	319	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ACAN_ENST00000439576.2_Missense_Mutation_p.P107T|ACAN_ENST00000559004.1_Missense_Mutation_p.P107T|ACAN_ENST00000558207.1_Missense_Mutation_p.P107T|ACAN_ENST00000352105.7_Missense_Mutation_p.P107T			P16112	PGCA_HUMAN	aggrecan	107	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTCACTGCCCAACTACCC	0.612																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(319-321)Ccc>Acc		aggrecan							151.0	174.0	166.0					15																	89382142		2154	4268	6422	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382142C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.319C>A	15.37:g.89382142C>A	ENSP00000453342:p.Pro107Thr					ACAN_ENST00000561243.1_Missense_Mutation_p.P107T|ACAN_ENST00000559004.1_Missense_Mutation_p.P107T|ACAN_ENST00000352105.7_Missense_Mutation_p.P107T|ACAN_ENST00000558207.1_Missense_Mutation_p.P107T	p.P107T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	693	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		107					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.319C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460535	0.43736	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.62941	-0.01;-0.01	5.36	5.36	0.76844	.	.	.	.	.	T	0.80793	0.4691	M	0.80332	2.49	0.38363	D	0.944664	D;D;D	0.89917	1.0;1.0;0.968	D;D;P	0.77557	0.99;0.99;0.867	D	0.83921	0.0301	9	0.62326	D	0.03	-20.9702	18.4414	0.90667	0.0:1.0:0.0:0.0	.	107;107;107	E7ENV9;E7EX88;Q6PID9	.;.;.	T	107	ENSP00000387356:P107T;ENSP00000341615:P107T	ENSP00000268134:P107T	P	+	1	0	ACAN	87183146	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	3.336000	0.52113	2.689000	0.91719	0.591000	0.81541	CCC		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		34	105	1	0	2.66277e-13	1	2.8576e-13	34	105				
CSMD2	114784	broad.mit.edu	37	1	34034977	34034977	+	Missense_Mutation	SNP	G	G	A	rs143459383		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:34034977G>A	ENST00000373381.4	-	52	8304	c.8128C>T	c.(8128-8130)Ctt>Ttt	p.L2710F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2712	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACCAAGGCAGCGGACT	0.502																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(8128-8130)Ctt>Ttt		CUB and Sushi multiple domains 2		G	PHE/LEU	0,4406		0,0,2203	81.0	73.0	76.0		8134	5.5	1.0	1	dbSNP_134	76	4,8596	3.0+/-9.4	0,4,4296	yes	missense	CSMD2	NM_052896.3	22	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	2712/3488	34034977	4,13002	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34034977G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8128C>T	1.37:g.34034977G>A	ENSP00000362479:p.Leu2710Phe						p.L2710F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			52	8304	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2712			Sushi 17.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8128C>T		.	.	.	.	.	.	.	.	.	.	G	16.91	3.253912	0.59212	0.0	4.65E-4	ENSG00000121904	ENST00000373381	T	0.25579	1.79	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.53562	0.1804	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.49753	-0.8906	10	0.35671	T	0.21	.	18.3184	0.90229	0.0:0.0:1.0:0.0	.	2712;2710	Q7Z408;E7EUA6	CSMD2_HUMAN;.	F	2710	ENSP00000362479:L2710F	ENSP00000241312:L2712F	L	-	1	0	CSMD2	33807564	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	3.983000	0.56916	2.566000	0.86566	0.655000	0.94253	CTT		0.502	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		17	36	0	0	0	1	0	17	36				
ATRX	546	broad.mit.edu	37	X	76855199	76855199	+	Splice_Site	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:76855199A>G	ENST00000373344.5	-	24	6001		c.e24+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TATTCGATTTACTTTGTATAA	0.348			"""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.e24+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						66.0	62.0	63.0					X																	76855199		2203	4296	6499	SO:0001630	splice_region_variant	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:76855199A>G	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.5786+1T>C	X.37:g.76855199A>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			24	6001	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602717	0.66445	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1613	0.65448	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76741855	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.363000	0.90103	1.790000	0.52503	0.481000	0.45027	.		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	6	1	0	0	0	1	0	6	1				
CELP	1057	broad.mit.edu	37	9	135962189	135962189	+	RNA	SNP	C	C	G	rs1755630	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:135962189C>G	ENST00000411440.2	+	0	696					NR_001275.2				carboxyl ester lipase pseudogene																		CAACATGGGCCACTCGGCTGT	0.627													c|||	1139	0.227436	0.1687	0.1772	5008	,	,		14892	0.2569		0.2147	False		,,,				2504	0.3252					ENST00000411440.2																			0																																																			0							g.chr9:135962189C>G	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.135962189C>G								NR_001275.2						0	696	+									RNA	SNP	ENST00000411440.2	37																																																																																						0.627	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	9	0	0	0	1	0	3	9				
FLNC	2318	broad.mit.edu	37	7	128482972	128482972	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:128482972G>A	ENST00000325888.8	+	16	2775	c.2514G>A	c.(2512-2514)gcG>gcA	p.A838A	FLNC_ENST00000346177.6_Silent_p.A838A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	838					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACA	0.592																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2512-2514)gcG>gcA		filamin C, gamma							52.0	59.0	57.0					7																	128482972		2136	4228	6364	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482972G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2514G>A	7.37:g.128482972G>A						FLNC_ENST00000346177.6_Silent_p.A838A	p.A838A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			16	2775	+			838					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.2514G>A	CCDS43644.1																																																																																				0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			18	29	0	0	0	1	0	18	29				
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs373357111		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AACAGCCCTGTCCCAAGGAAG	0.507																																						ENST00000411500.1																			0																																																			0							g.chr6:32521666T>C	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521666T>C								NR_001298.1						0	817	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.507	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	10	0	0	0	1	0	3	10				
RAB23	51715	broad.mit.edu	37	6	57058690	57058690	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:57058690T>A	ENST00000317483.3	-	6	1143	c.524A>T	c.(523-525)cAa>cTa	p.Q175L	RAB23_ENST00000468148.1_Missense_Mutation_p.Q175L	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	175					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCTATTTGTTGTTTGAGTTT	0.318																																						ENST00000317483.3																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8						c.(523-525)cAa>cTa		RAB23, member RAS oncogene family							150.0	137.0	141.0					6																	57058690		2202	4297	6499	SO:0001583	missense	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57058690T>A	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.524A>T	6.37:g.57058690T>A	ENSP00000320413:p.Gln175Leu					RAB23_ENST00000468148.1_Missense_Mutation_p.Q175L	p.Q175L	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	1143	-	Lung NSC(77;0.121)		175					B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	c.524A>T	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145805	0.57044	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.79247	-1.25;-1.25	5.81	5.81	0.92471	.	0.053166	0.85682	D	0.000000	T	0.60117	0.2244	L	0.50333	1.59	0.80722	D	1	B	0.23540	0.087	B	0.18263	0.021	T	0.65071	-0.6257	10	0.56958	D	0.05	-18.1643	10.491	0.44750	0.0:0.0723:0.0:0.9277	.	175	Q9ULC3	RAB23_HUMAN	L	175	ENSP00000320413:Q175L;ENSP00000417610:Q175L	ENSP00000320413:Q175L	Q	-	2	0	RAB23	57166649	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.401000	0.59716	2.210000	0.71456	0.455000	0.32223	CAA		0.318	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			9	5	0	0	0	1	0	9	5				
PTPRCAP	5790	broad.mit.edu	37	11	67203469	67203469	+	Missense_Mutation	SNP	G	G	A	rs572090784		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:67203469G>A	ENST00000326294.3	-	2	803	c.356C>T	c.(355-357)gCg>gTg	p.A119V	CORO1B_ENST00000539724.1_5'Flank|AP003419.16_ENST00000535922.1_RNA	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	119					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCACCATCCGCGACGTGGTC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18317	0.0		0.0	False		,,,				2504	0.001					ENST00000326294.3																			0				skin(1)|upper_aerodigestive_tract(1)	2						c.(355-357)gCg>gTg		protein tyrosine phosphatase, receptor type, C-associated protein							76.0	60.0	66.0					11																	67203469		2200	4295	6495	SO:0001583	missense	5790				defense response	integral to membrane|plasma membrane		g.chr11:67203469G>A		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.356C>T	11.37:g.67203469G>A	ENSP00000325589:p.Ala119Val						p.A119V	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	803	-			119					B2R512|O00643|Q6I9S6	Missense_Mutation	SNP	ENST00000326294.3	37	c.356C>T	CCDS8163.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246831	0.22796	.	.	ENSG00000213402	ENST00000326294	T	0.42131	0.98	3.94	-0.603	0.11630	.	2.400400	0.02861	U	0.130297	T	0.17280	0.0415	N	0.02539	-0.55	0.09310	N	1	B	0.21381	0.055	B	0.11329	0.006	T	0.11348	-1.0591	10	0.25106	T	0.35	-2.7357	3.3983	0.07313	0.5901:0.0:0.2414:0.1685	.	119	Q14761	PTCA_HUMAN	V	119	ENSP00000325589:A119V	ENSP00000325589:A119V	A	-	2	0	PTPRCAP	66960045	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.196000	0.17176	0.137000	0.18759	0.561000	0.74099	GCG		0.657	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		10	44	0	0	0	1	0	10	44				
SLC19A3	80704	broad.mit.edu	37	2	228563995	228563995	+	Missense_Mutation	SNP	C	C	T	rs147502239	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:228563995C>T	ENST00000258403.3	-	3	507	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SLC19A3_ENST00000541617.1_Missense_Mutation_p.V142I|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	146					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGCGTGACGCTCCTGCAG	0.592													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18102	0.0		0.0	False		,,,				2504	0.0					ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(436-438)Gtc>Atc		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)	C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	83.0	85.0	84.0		436	-8.7	0.0	2	dbSNP_134	84	0,8600		0,0,4300	no	missense	SLC19A3	NM_025243.3	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	146/497	228563995	4,13002	2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563995C>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.436G>A	2.37:g.228563995C>T	ENSP00000258403:p.Val146Ile					SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.V142I	p.V146I	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	507	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	146						Missense_Mutation	SNP	ENST00000258403.3	37	c.436G>A	CCDS2468.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	3.460	-0.110248	0.06924	9.08E-4	0.0	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.80909	-1.43;-1.43	5.91	-8.73	0.00841	Major facilitator superfamily domain, general substrate transporter (1);	0.589068	0.19650	N	0.109256	T	0.53238	0.1784	N	0.05510	-0.035	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.13407	0.005;0.009	T	0.01920	-1.1247	10	0.35671	T	0.21	-8.5019	22.7399	0.99975	0.0:0.1946:0.0:0.8054	.	142;146	F5H2M8;Q9BZV2	.;S19A3_HUMAN	I	146;142	ENSP00000258403:V146I;ENSP00000445519:V142I	ENSP00000258403:V146I	V	-	1	0	SLC19A3	228272239	0.000000	0.05858	0.001000	0.08648	0.258000	0.26162	-1.737000	0.01843	-2.116000	0.00830	-0.794000	0.03295	GTC		0.592	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			57	86	0	0	0	1	0	57	86				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	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)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	7	0	0	0	1	0	45	7				
ALPK2	115701	broad.mit.edu	37	18	56203630	56203630	+	Silent	SNP	G	G	A	rs76266246	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr18:56203630G>A	ENST00000361673.3	-	5	4002	c.3789C>T	c.(3787-3789)gaC>gaT	p.D1263D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1263						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D624D(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGACCACCGTCTGATGCCT	0.498																																						ENST00000361673.3																			1	Substitution - coding silent(1)	p.D624D(1)	lung(1)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3787-3789)gaC>gaT		alpha-kinase 2							146.0	130.0	136.0					18																	56203630		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203630G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3789C>T	18.37:g.56203630G>A						RP11-1151B14.4_ENST00000591360.1_RNA	p.D1263D	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4002	-			1263					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.3789C>T	CCDS11966.2																																																																																				0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		53	65	0	0	0	1	0	53	65				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	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			8	17	0	0	0	1	0	8	17				
SCLY	51540	broad.mit.edu	37	2	239002577	239002577	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:239002577A>G	ENST00000555827.1	+	9	1061	c.997A>G	c.(997-999)Agg>Ggg	p.R333G	SCLY_ENST00000254663.6_Missense_Mutation_p.R341G|SCLY_ENST00000429612.2_Missense_Mutation_p.R127G|SCLY_ENST00000422984.2_Missense_Mutation_p.R239G			Q96I15	SCLY_HUMAN	selenocysteine lyase	333					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTGGAAGAGAGGCTGGAAGT	0.672																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(1021-1023)Agg>Ggg		selenocysteine lyase							31.0	29.0	29.0					2																	239002577		2202	4299	6501	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:239002577A>G	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.997A>G	2.37:g.239002577A>G	ENSP00000450613:p.Arg333Gly					SCLY_ENST00000429612.2_Missense_Mutation_p.R127G|SCLY_ENST00000422984.2_Missense_Mutation_p.R239G|SCLY_ENST00000555827.1_Missense_Mutation_p.R333G	p.R341G	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	9	1163	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	333					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.1021A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	8.788|8.788	0.929953|0.929953	0.18131|0.18131	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000412508|ENST00000254663;ENST00000555827;ENST00000422984;ENST00000429612;ENST00000450965	T|D;D;D;T;T	0.48201|0.87334	0.82|-2.24;-2.24;-2.24;0.91;1.68	5.2|5.2	-2.5|-2.5	0.06384|0.06384	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.054245	.|0.64402	.|D	.|0.000004	T|T	0.78861|0.78861	0.4350|0.4350	N|N	0.17631|0.17631	0.505|0.505	0.35732|0.35732	D|D	0.818026|0.818026	.|B;D;B	.|0.54047	.|0.194;0.964;0.007	.|B;P;B	.|0.48488	.|0.053;0.579;0.013	T|T	0.77273|0.77273	-0.2649|-0.2649	6|10	.|0.18276	.|T	.|0.48	-6.0067|-6.0067	14.6622|14.6622	0.68879|0.68879	0.3566:0.6434:0.0:0.0|0.3566:0.6434:0.0:0.0	.|.	.|239;127;333	.|E7ESG3;E7ESH3;Q96I15	.|.;.;SCLY_HUMAN	G|G	127|341;333;239;127;163	ENSP00000416344:E127G|ENSP00000254663:R341G;ENSP00000450613:R333G;ENSP00000416865:R239G;ENSP00000393694:R127G;ENSP00000414053:R163G	.|ENSP00000254663:R333G	E|R	+|+	2|1	0|2	SCLY|SCLY	238667316|238667316	0.176000|0.176000	0.23096|0.23096	0.987000|0.987000	0.45799|0.45799	0.121000|0.121000	0.20230|0.20230	0.136000|0.136000	0.15974|0.15974	-0.304000|-0.304000	0.08843|0.08843	0.492000|0.492000	0.49549|0.49549	GAG|AGG		0.672	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		11	10	0	0	0	1	0	11	10				
ECT2	1894	broad.mit.edu	37	3	172472415	172472415	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:172472415A>T	ENST00000392692.3	+	2	271	c.95A>T	c.(94-96)gAa>gTa	p.E32V	ECT2_ENST00000232458.5_Missense_Mutation_p.E32V|ECT2_ENST00000427830.1_Missense_Mutation_p.E32V|ECT2_ENST00000540509.1_Missense_Mutation_p.E32V|ECT2_ENST00000417960.1_Missense_Mutation_p.E32V|ECT2_ENST00000441497.2_Missense_Mutation_p.E32V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	32					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTTCCAAGGAAAACTTACTT	0.323																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(94-96)gAa>gTa		epithelial cell transforming sequence 2 oncogene							50.0	51.0	51.0					3																	172472415		2203	4295	6498	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172472415A>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.95A>T	3.37:g.172472415A>T	ENSP00000376457:p.Glu32Val					ECT2_ENST00000392692.3_Missense_Mutation_p.E32V|ECT2_ENST00000232458.5_Missense_Mutation_p.E32V|ECT2_ENST00000427830.1_Missense_Mutation_p.E32V|ECT2_ENST00000540509.1_Missense_Mutation_p.E32V|ECT2_ENST00000441497.2_Missense_Mutation_p.E32V	p.E32V	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		3	572	+	Ovarian(172;0.00197)|Breast(254;0.158)		32					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.95A>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319431	0.81469	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.48;-0.47;-0.52;-0.5;0.55;0.6;0.56;0.57;0.59;-0.48;-0.47	5.46	5.46	0.80206	.	0.154024	0.64402	D	0.000020	T	0.75280	0.3828	L	0.29908	0.895	0.54753	D	0.999986	D;D;P;B	0.63880	0.987;0.993;0.948;0.016	P;D;P;B	0.63703	0.765;0.917;0.547;0.02	T	0.78785	-0.2068	10	0.87932	D	0	-14.7134	15.5222	0.75874	1.0:0.0:0.0:0.0	.	32;32;32;32	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	V	32	ENSP00000232458:E32V;ENSP00000376457:E32V;ENSP00000401910:E32V;ENSP00000415876:E32V;ENSP00000403501:E32V;ENSP00000412331:E32V;ENSP00000403446:E32V;ENSP00000412028:E32V;ENSP00000389108:E32V;ENSP00000412259:E32V;ENSP00000443160:E32V	ENSP00000232458:E32V	E	+	2	0	ECT2	173955109	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.837000	0.86796	2.065000	0.61736	0.397000	0.26171	GAA		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		3	11	0	0	0	1	0	3	11				
PLG	5340	broad.mit.edu	37	6	161173247	161173247	+	Silent	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:161173247C>T	ENST00000308192.9	+	18	2289	c.2226C>T	c.(2224-2226)acC>acT	p.T742T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	742	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAATCCACCGAACTCTGTG	0.488																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(2224-2226)acC>acT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						83.0	81.0	82.0					6																	161173247		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173247C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2226C>T	6.37:g.161173247C>T							p.T742T	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2289	+			742			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.2226C>T	CCDS5279.1																																																																																				0.488	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		21	28	0	0	0	1	0	21	28				
FTH1	2495	broad.mit.edu	37	11	61732945	61732945	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:61732945C>G	ENST00000273550.7	-	2	391	c.157G>C	c.(157-159)Gcc>Ccc	p.A53P	AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000532601.1_5'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A23P|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	53	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AAGTATTTGGCAAAGTTCTTC	0.458																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(157-159)Gcc>Ccc		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						109.0	103.0	105.0					11																	61732945		1917	4125	6042	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732945C>G		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.157G>C	11.37:g.61732945C>G	ENSP00000273550:p.Ala53Pro					FTH1_ENST00000532601.1_5'UTR|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A23P|FTH1_ENST00000529191.1_Intron	p.A53P	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			2	391	-			53			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.157G>C	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	18.79	3.698759	0.68501	.	.	ENSG00000167996	ENST00000530019;ENST00000273550;ENST00000406545;ENST00000526640	T;T;T	0.70282	-0.47;-0.47;-0.47	4.56	4.56	0.56223	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.053880	0.85682	D	0.000000	D	0.84884	0.5571	H	0.96916	3.905	0.80722	D	1	P	0.42941	0.794	P	0.49922	0.626	D	0.89008	0.3426	10	0.72032	D	0.01	.	12.4406	0.55623	0.168:0.832:0.0:0.0	.	53	P02794	FRIH_HUMAN	P	53;53;102;23	ENSP00000433470:A53P;ENSP00000273550:A53P;ENSP00000433321:A23P	ENSP00000273550:A53P	A	-	1	0	FTH1	61489521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.672000	0.54583	2.225000	0.72522	0.462000	0.41574	GCC		0.458	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		29	29	0	0	0	1	0	29	29				
CEP162	22832	broad.mit.edu	37	6	84913701	84913701	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:84913701G>C	ENST00000403245.3	-	7	799	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q153E	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATATATACCTGTTTGGGCACA	0.343																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(685-687)Cag>Gag		KIAA1009							86.0	87.0	86.0					6																	84913701		2203	4297	6500	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84913701G>C																												ENST00000403245.3:c.685C>G	6.37:g.84913701G>C	ENSP00000385215:p.Gln229Glu					KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q153E	p.Q229E	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	7	799	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	229						Missense_Mutation	SNP	ENST00000403245.3	37	c.685C>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269495	0.40095	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.14893	2.47;2.47	5.31	2.24	0.28232	.	0.548732	0.17712	N	0.164549	T	0.04272	0.0118	L	0.40543	1.245	0.20489	N	0.999894	B;B	0.20052	0.008;0.041	B;B	0.14578	0.011;0.011	T	0.39683	-0.9602	10	0.24483	T	0.36	-0.8691	8.4588	0.32915	0.0:0.264:0.4664:0.2695	.	229;229	Q5TB80;C9JFM9	QN1_HUMAN;.	E	153;229	ENSP00000257766:Q153E;ENSP00000385215:Q229E	ENSP00000257766:Q153E	Q	-	1	0	KIAA1009	84970420	0.967000	0.33354	0.970000	0.41538	0.715000	0.41141	1.241000	0.32743	0.653000	0.30826	0.563000	0.77884	CAG		0.343	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			3	16	0	0	0	1	0	3	16				
TPM2	7169	broad.mit.edu	37	9	35685321	35685321	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:35685321C>A	ENST00000360958.2	-	5	612	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	TPM2_ENST00000378300.5_Missense_Mutation_p.V170L|TPM2_ENST00000378292.3_Missense_Mutation_p.V170L|TPM2_ENST00000329305.2_Missense_Mutation_p.V170L	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	170					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCAGGATCACCAGCTTCCTG	0.627																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(508-510)Gtg>Ttg		tropomyosin 2 (beta)							54.0	54.0	54.0					9																	35685321		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685321C>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.508G>T	9.37:g.35685321C>A	ENSP00000354219:p.Val170Leu					TPM2_ENST00000360958.2_Missense_Mutation_p.V170L|TPM2_ENST00000329305.2_Missense_Mutation_p.V170L|TPM2_ENST00000378300.5_Missense_Mutation_p.V170L	p.V170L	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	1710	-	all_epithelial(49;0.121)		170					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.508G>T	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786847	0.70337	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;D;D;D	0.97688	1.35;-4.49;-4.49;-4.49	5.24	5.24	0.73138	.	.	.	.	.	D	0.98648	0.9547	M	0.79693	2.465	0.54753	D	0.999989	B;B;P;B;B	0.35542	0.327;0.013;0.508;0.044;0.073	P;B;P;B;B	0.55161	0.77;0.151;0.674;0.165;0.391	D	0.99282	1.0896	9	0.72032	D	0.01	.	19.0185	0.92903	0.0:1.0:0.0:0.0	.	170;170;170;170;170	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	L	170	ENSP00000367550:V170L;ENSP00000367542:V170L;ENSP00000367541:V170L;ENSP00000354219:V170L	ENSP00000367541:V170L	V	-	1	0	TPM2	35675321	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.647000	0.83462	2.723000	0.93209	0.655000	0.94253	GTG		0.627	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		11	26	1	0	5.50884e-06	1	5.50884e-06	11	26				
FAM155A	728215	broad.mit.edu	37	13	108518709	108518709	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr13:108518709T>C	ENST00000375915.2	-	1	374	c.236A>G	c.(235-237)cAg>cGg	p.Q79R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	79	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgctgccgctg	0.677																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(235-237)cAg>cGg		family with sequence similarity 155, member A							19.0	25.0	23.0					13																	108518709		2134	4188	6322	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518709T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.236A>G	13.37:g.108518709T>C	ENSP00000365080:p.Gln79Arg						p.Q79R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	374	-			79			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.236A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.075621	0.00375	.	.	ENSG00000204442	ENST00000375915	T	0.56103	0.48	4.69	3.49	0.39957	Armadillo-like helical (1);	0.202899	0.24740	N	0.035994	T	0.41696	0.1170	L	0.45352	1.415	0.24531	N	0.994117	B	0.06786	0.001	B	0.04013	0.001	T	0.32693	-0.9897	10	0.45353	T	0.12	.	8.067	0.30667	0.0:0.0962:0.0:0.9038	.	79	B1AL88	F155A_HUMAN	R	79	ENSP00000365080:Q79R	ENSP00000365080:Q79R	Q	-	2	0	FAM155A	107316710	0.956000	0.32656	1.000000	0.80357	0.534000	0.34807	0.161000	0.16481	0.638000	0.30545	0.260000	0.18958	CAG		0.677	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		21	29	0	0	0	1	0	21	29				
LIFR	3977	broad.mit.edu	37	5	38523540	38523540	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:38523540C>G	ENST00000263409.4	-	5	704	c.542G>C	c.(541-543)aGt>aCt	p.S181T	LIFR_ENST00000453190.2_Missense_Mutation_p.S181T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	181					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.S181T(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAGCTCCATACTCTCTTTACG	0.343			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Missense(2)	p.S181T(2)	lung(2)	NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(541-543)aGt>aCt		leukemia inhibitory factor receptor alpha							84.0	93.0	90.0					5																	38523540		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38523540C>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.542G>C	5.37:g.38523540C>G	ENSP00000263409:p.Ser181Thr					LIFR_ENST00000453190.2_Missense_Mutation_p.S181T|LIFR_ENST00000503088.1_5'UTR	p.S181T	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			5	704	-	all_lung(31;0.00021)		181					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.542G>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	1.109	-0.658899	0.03454	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.30448	1.53;1.53	5.53	0.538	0.17150	Immunoglobulin-like fold (1);	0.803273	0.12091	N	0.500460	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.35475	-0.9787	10	0.10636	T	0.68	-3.2521	7.542	0.27744	0.0:0.658:0.0:0.342	.	181	P42702	LIFR_HUMAN	T	181	ENSP00000263409:S181T;ENSP00000398368:S181T	ENSP00000263409:S181T	S	-	2	0	LIFR	38559297	0.000000	0.05858	0.235000	0.24058	0.936000	0.57629	-0.002000	0.12924	0.155000	0.19261	0.655000	0.94253	AGT		0.343	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		15	31	0	0	0	1	0	15	31				
HADHA	3030	broad.mit.edu	37	2	26437420	26437420	+	Silent	SNP	C	C	T	rs376632479		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:26437420C>T	ENST00000380649.3	-	9	939	c.810G>A	c.(808-810)gcG>gcA	p.A270A	HADHA_ENST00000457468.2_Silent_p.A183A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	270					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATGGCATACGCTGTCAATT	0.338																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(808-810)gcG>gcA		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)	C		0,4406		0,0,2203	105.0	97.0	99.0		810	-5.2	0.0	2		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HADHA	NM_000182.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		270/764	26437420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26437420C>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.810G>A	2.37:g.26437420C>T						HADHA_ENST00000457468.2_Silent_p.A183A	p.A270A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			9	939	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		270					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.810G>A	CCDS1721.1																																																																																				0.338	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		5	10	0	0	0	1	0	5	10				
HKDC1	80201	broad.mit.edu	37	10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	rs148336562	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20001	0.0		0.0	False		,,,				2504	0.0					ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)Gcc>Acc		hexokinase domain containing 1							143.0	152.0	149.0					10																	71010063		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71010063G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1588G>A	10.37:g.71010063G>A	ENSP00000346643:p.Ala530Thr					HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	p.A530T	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			11	1721	+			530					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1588G>A	CCDS7288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	25.7	4.660770	0.88154	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99527	-6.09;-6.09	5.2	5.2	0.72013	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.90922	3.16	0.58432	D	0.999993	D	0.76494	0.999	D	0.85130	0.997	D	0.97962	1.0338	10	0.87932	D	0	-24.7869	18.9131	0.92493	0.0:0.0:1.0:0.0	.	530	Q2TB90	HKDC1_HUMAN	T	530	ENSP00000346643:A530T;ENSP00000378521:A530T	ENSP00000346643:A530T	A	+	1	0	HKDC1	70680069	1.000000	0.71417	0.965000	0.40720	0.855000	0.48748	5.575000	0.67430	2.704000	0.92352	0.561000	0.74099	GCC		0.547	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		20	180	0	0	0	1	0	20	180				
OR8J3	81168	broad.mit.edu	37	11	55904857	55904857	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:55904857A>G	ENST00000301529.1	-	1	337	c.338T>C	c.(337-339)aTg>aCg	p.M113T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCCAGCATCATTACCTCCGA	0.478																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(337-339)aTg>aCg		olfactory receptor, family 8, subfamily J, member 3							153.0	141.0	145.0					11																	55904857		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904857A>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.338T>C	11.37:g.55904857A>G	ENSP00000301529:p.Met113Thr						p.M113T	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	337	-	Esophageal squamous(21;0.00693)		113					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.338T>C	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	8.690	0.907121	0.17833	.	.	ENSG00000167822	ENST00000301529	T	0.02974	4.09	3.26	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.689730	0.14364	N	0.324270	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.45585	-0.9251	10	0.87932	D	0	.	9.4838	0.38917	0.5618:0.4382:0.0:0.0	.	113	Q8NGG0	OR8J3_HUMAN	T	113	ENSP00000301529:M113T	ENSP00000301529:M113T	M	-	2	0	OR8J3	55661433	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	0.044000	0.13992	0.253000	0.21552	0.240000	0.17902	ATG		0.478	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		11	79	0	0	0	1	0	11	79				
CPXM1	56265	broad.mit.edu	37	20	2775986	2775986	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr20:2775986G>A	ENST00000380605.2	-	12	1861	c.1797C>T	c.(1795-1797)caC>caT	p.H599H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	599					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATTCATTCTCGTGAGGGAACT	0.567																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1795-1797)caC>caT		carboxypeptidase X (M14 family), member 1							121.0	109.0	113.0					20																	2775986		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775986G>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1797C>T	20.37:g.2775986G>A							p.H599H	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			12	1861	-			599					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.1797C>T	CCDS13033.1																																																																																				0.567	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		19	20	0	0	0	1	0	19	20				
DIO2	1734	broad.mit.edu	37	14	80669148	80669148	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:80669148G>C	ENST00000557010.1	-	4	1091	c.706C>G	c.(706-708)Cag>Gag	p.Q236E	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.Q236E|DIO2_ENST00000555750.1_Missense_Mutation_p.Q272E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	236					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAATTTTCTGTCTCTGCACA	0.507																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(706-708)Cag>Gag		deiodinase, iodothyronine, type II							90.0	87.0	88.0					14																	80669148		1967	4161	6128	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669148G>C	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.706C>G	14.37:g.80669148G>C	ENSP00000451419:p.Gln236Glu					DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.Q272E|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.Q236E	p.Q236E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	1091	-			236					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.706C>G	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996734	0.35226	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.30714	1.52;1.52;1.52	5.77	5.77	0.91146	.	0.380153	0.23610	N	0.046359	T	0.27663	0.0680	L	0.28694	0.88	0.80722	D	1	B;B;B	0.26547	0.034;0.042;0.152	B;B;B	0.28385	0.053;0.089;0.085	T	0.04216	-1.0968	10	0.21540	T	0.41	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	272;236;272	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	E	236;236;272	ENSP00000405854:Q236E;ENSP00000451419:Q236E;ENSP00000450980:Q272E	ENSP00000405854:Q236E	Q	-	1	0	DIO2	79738901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.660000	0.61511	2.724000	0.93272	0.650000	0.86243	CAG		0.507	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			23	24	0	0	0	1	0	23	24				
SDHA	6389	broad.mit.edu	37	5	218471	218471	+	Start_Codon_SNP	SNP	A	A	G	rs1061517		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CTD-2083E4.4_ENST00000565521.1_RNA|SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V|CCDC127_ENST00000296824.3_5'Flank	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40	GRCh37	CM000423	SDHA	M	rs1061517	c.(1-3)Atg>Gtg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	A	VAL/MET	0,3220		0,0,1610	5.0	7.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1	2.5	0.8	5	dbSNP_86	6	1,7349		0,1,3674	no	missense	SDHA	NM_004168.2	21	0,1,5284	GG,GA,AA		0.0136,0.0,0.0095	benign	1/665	218471	1,10569	1610	3675	5285	SO:0001582	initiator_codon_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:218471A>G	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1A>G	5.37:g.218471A>G	ENSP00000264932:p.Met1Val					SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V	p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		1	116	+			1					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Translation_Start_Site	SNP	ENST00000264932.6	37	c.1A>G	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	A	4.320	0.058789	0.08339	0.0	1.36E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71341	-0.51;0.34;-0.56	3.66	2.45	0.29901	.	0.587012	0.15705	U	0.248701	T	0.58836	0.2150	.	.	.	0.80722	D	1	B;B;B;B;B	0.19331	0.024;0.035;0.012;0.003;0.012	B;B;B;B;B	0.15484	0.005;0.013;0.001;0.001;0.013	T	0.55354	-0.8154	9	0.87932	D	0	.	5.9429	0.19203	0.7678:0.0:0.0:0.2322	rs1061517;rs3202613;rs17842378	1;1;1;1;7	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	V	1	ENSP00000264932:M1V;ENSP00000426514:M1V;ENSP00000427703:M1V	ENSP00000264932:M1V	M	+	1	0	SDHA	271471	0.783000	0.28701	0.849000	0.33467	0.007000	0.05969	1.173000	0.31920	0.456000	0.26937	-0.728000	0.03583	ATG		0.776	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	Missense_Mutation	10	16	0	0	0	1	0	10	16				
CNTN4	152330	broad.mit.edu	37	3	2924865	2924865	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:2924865A>G	ENST00000397461.1	+	8	1073	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CNTN4_ENST00000418658.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000427331.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000358480.3_Missense_Mutation_p.Q11R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	230	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAGAAGTGCAGTTCCCAGAA	0.408																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(688-690)cAg>cGg		contactin 4							92.0	94.0	94.0					3																	2924865		1901	4148	6049	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2924865A>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.689A>G	3.37:g.2924865A>G	ENSP00000380602:p.Gln230Arg					CNTN4_ENST00000418658.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000427331.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000358480.3_Missense_Mutation_p.Q11R	p.Q230R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	8	1073	+		Ovarian(110;0.156)	230			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.689A>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225042	0.39300	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073038	0.56097	D	0.000026	T	0.55689	0.1936	N	0.12961	0.28	0.80722	D	1	P;P	0.47604	0.808;0.898	P;P	0.51415	0.57;0.669	T	0.53892	-0.8374	10	0.05959	T	0.93	.	14.7537	0.69546	1.0:0.0:0.0:0.0	.	230;230	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	R	230;230;230;11	ENSP00000396010:Q230R;ENSP00000380602:Q230R;ENSP00000413642:Q230R;ENSP00000351267:Q11R	ENSP00000351267:Q11R	Q	+	2	0	CNTN4	2899865	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.694000	0.91293	1.952000	0.56665	0.533000	0.62120	CAG		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			13	17	0	0	0	1	0	13	17				
CATSPERB	79820	broad.mit.edu	37	14	92076966	92076966	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:92076966G>A	ENST00000256343.3	-	21	2612	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	819					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CACCATTGTCGTAACAAAGCA	0.373																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2455-2457)aCg>aTg		catsper channel auxiliary subunit beta							101.0	92.0	95.0					14																	92076966		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92076966G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2456C>T	14.37:g.92076966G>A	ENSP00000256343:p.Thr819Met						p.T819M	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			21	2612	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	819					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2456C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634842	0.47049	.	.	ENSG00000133962	ENST00000256343	T	0.53206	0.63	5.51	4.61	0.57282	.	0.128515	0.34932	N	0.003578	T	0.60366	0.2263	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.68039	0.955	T	0.53954	-0.8365	10	0.72032	D	0.01	-14.0395	9.4419	0.38673	0.0994:0.0:0.9006:0.0	.	819	Q9H7T0	CTSRB_HUMAN	M	819	ENSP00000256343:T819M	ENSP00000256343:T819M	T	-	2	0	CATSPERB	91146719	0.155000	0.22806	0.037000	0.18230	0.016000	0.09150	3.319000	0.51983	1.302000	0.44855	0.563000	0.77884	ACG		0.373	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		7	25	0	0	0	1	0	7	25				
ANKS1A	23294	broad.mit.edu	37	6	35048910	35048910	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:35048910C>T	ENST00000360359.3	+	17	2822	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	895					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACCCTCCCGAGCGGAG	0.657																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2683-2685)tCc>tTc		ankyrin repeat and sterile alpha motif domain containing 1A							48.0	44.0	45.0					6																	35048910		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35048910C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2684C>T	6.37:g.35048910C>T	ENSP00000353518:p.Ser895Phe					ANKS1A_ENST00000535627.1_Intron	p.S895F	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			17	2822	+			895					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.2684C>T	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880941	0.51801	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.39997	1.05	4.98	3.08	0.35506	.	0.316812	0.22373	N	0.060909	T	0.19485	0.0468	L	0.50333	1.59	0.21604	N	0.999627	B;B;B	0.33448	0.295;0.036;0.412	B;B;B	0.33392	0.163;0.011;0.084	T	0.08700	-1.0709	10	0.66056	D	0.02	-7.3589	9.4701	0.38837	0.0:0.7785:0.1422:0.0793	.	221;221;895	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	F	895;221	ENSP00000353518:S895F	ENSP00000353518:S895F	S	+	2	0	ANKS1A	35156888	0.001000	0.12720	0.027000	0.17364	0.009000	0.06853	1.178000	0.31981	1.219000	0.43474	0.655000	0.94253	TCC		0.657	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		11	26	0	0	0	1	0	11	26				
ACAN	176	broad.mit.edu	37	15	89382124	89382124	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382124C>G	ENST00000561243.1	+	2	301	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	ACAN_ENST00000439576.2_Missense_Mutation_p.Q101E|ACAN_ENST00000559004.1_Missense_Mutation_p.Q101E|ACAN_ENST00000558207.1_Missense_Mutation_p.Q101E|ACAN_ENST00000352105.7_Missense_Mutation_p.Q101E			P16112	PGCA_HUMAN	aggrecan	101	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGCCTATCAGGACAAGGT	0.617																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(301-303)Cag>Gag		aggrecan							150.0	174.0	166.0					15																	89382124		2152	4268	6420	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382124C>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.301C>G	15.37:g.89382124C>G	ENSP00000453342:p.Gln101Glu					ACAN_ENST00000561243.1_Missense_Mutation_p.Q101E|ACAN_ENST00000559004.1_Missense_Mutation_p.Q101E|ACAN_ENST00000352105.7_Missense_Mutation_p.Q101E|ACAN_ENST00000558207.1_Missense_Mutation_p.Q101E	p.Q101E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	675	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		101					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.301C>G	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944930	0.34283	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	.	.	.	.	.	T	0.57227	0.2039	L	0.53249	1.67	0.24790	N	0.992762	B;B;B	0.31153	0.31;0.136;0.026	B;B;B	0.27608	0.081;0.081;0.065	T	0.51132	-0.8744	9	0.33940	T	0.23	-2.2735	14.006	0.64463	0.1608:0.8392:0.0:0.0	.	101;101;101	E7ENV9;E7EX88;Q6PID9	.;.;.	E	101	ENSP00000387356:Q101E;ENSP00000341615:Q101E	ENSP00000268134:Q101E	Q	+	1	0	ACAN	87183128	0.995000	0.38212	0.973000	0.42090	0.518000	0.34316	0.617000	0.24359	2.689000	0.91719	0.591000	0.81541	CAG		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		30	103	0	0	0	1	0	30	103				
TRRAP	8295	broad.mit.edu	37	7	98497374	98497374	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:98497374G>T	ENST00000359863.4	+	10	993	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V262L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V262L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	262					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCATTCAGGTGTCTGCACA	0.438																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(784-786)Gtg>Ttg		transformation/transcription domain-associated protein							157.0	130.0	139.0					7																	98497374		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98497374G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.784G>T	7.37:g.98497374G>T	ENSP00000352925:p.Val262Leu					TRRAP_ENST00000355540.3_Missense_Mutation_p.V262L|TRRAP_ENST00000446306.3_Missense_Mutation_p.V262L	p.V262L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	993	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		262					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.784G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291393	0.23564	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03124	4.04;4.04	5.35	4.47	0.54385	Armadillo-type fold (1);	0.154190	0.42420	D	0.000718	T	0.04679	0.0127	L	0.41492	1.28	0.80722	D	1	B;B	0.14438	0.01;0.006	B;B	0.15484	0.013;0.006	T	0.34725	-0.9817	10	0.49607	T	0.09	.	12.6968	0.57008	0.0765:0.0:0.9235:0.0	.	262;262	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	L	262	ENSP00000352925:V262L;ENSP00000347733:V262L	ENSP00000347733:V262L	V	+	1	0	TRRAP	98335310	1.000000	0.71417	0.996000	0.52242	0.058000	0.15608	9.333000	0.96459	1.426000	0.47256	-0.261000	0.10672	GTG		0.438	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	23	1	0	6.81908e-15	1	7.50099e-15	11	23				
FERMT2	10979	broad.mit.edu	37	14	53385874	53385874	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:53385874A>G	ENST00000395631.2	-	3	574	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	FERMT2_ENST00000399304.3_Missense_Mutation_p.F120L|FERMT2_ENST00000343279.4_Missense_Mutation_p.F120L|FERMT2_ENST00000553373.1_Missense_Mutation_p.F120L|FERMT2_ENST00000341590.3_Missense_Mutation_p.F120L			Q96AC1	FERM2_HUMAN	fermitin family member 2	120					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACAGCTTTGAAGACTCTATCA	0.393																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(358-360)Ttc>Ctc		fermitin family member 2							93.0	91.0	92.0					14																	53385874		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53385874A>G	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.358T>C	14.37:g.53385874A>G	ENSP00000378993:p.Phe120Leu					FERMT2_ENST00000343279.4_Missense_Mutation_p.F120L|FERMT2_ENST00000399304.3_Missense_Mutation_p.F120L|FERMT2_ENST00000553373.1_Missense_Mutation_p.F120L|FERMT2_ENST00000341590.3_Missense_Mutation_p.F120L	p.F120L			Q96AC1	FERM2_HUMAN			3	574	-	Breast(41;0.0342)		120					B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.358T>C	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.885434	0.91814	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288;ENST00000555692;ENST00000554712	T;T;T;T;T;T;T;T;T	0.52057	2.44;2.44;2.44;2.44;2.44;2.44;0.68;2.44;2.44	5.56	5.56	0.83823	FERM, N-terminal (1);Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	L	0.46819	1.47	0.80722	D	1	D;D;D	0.61697	0.988;0.99;0.99	D;D;D	0.70487	0.928;0.942;0.969	T	0.62201	-0.6904	10	0.49607	T	0.09	.	15.7177	0.77681	1.0:0.0:0.0:0.0	.	120;120;120	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	L	120;120;62;120;120;120;15;76;120	ENSP00000378993:F120L;ENSP00000340391:F120L;ENSP00000450741:F62L;ENSP00000342858:F120L;ENSP00000451084:F120L;ENSP00000382243:F120L;ENSP00000451268:F15L;ENSP00000452472:F76L;ENSP00000450506:F120L	ENSP00000340391:F120L	F	-	1	0	FERMT2	52455624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.130000	0.65690	0.528000	0.53228	TTC		0.393	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		25	31	0	0	0	1	0	25	31				
NOS1	4842	broad.mit.edu	37	12	117768538	117768538	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:117768538C>T	ENST00000338101.4	-	1	341	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_ENST00000344089.3_Missense_Mutation_p.G113S|NOS1_ENST00000317775.6_Missense_Mutation_p.G113S|NOS1_ENST00000549189.1_5'Flank			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTCCCATCACCTGTAAAGGTG	0.632																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(337-339)Ggt>Agt		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						38.0	42.0	41.0					12																	117768538		1945	4119	6064	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768538C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.337G>A	12.37:g.117768538C>T	ENSP00000337459:p.Gly113Ser					NOS1_ENST00000338101.4_Missense_Mutation_p.G113S|NOS1_ENST00000344089.3_Missense_Mutation_p.G113S	p.G113S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1022	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		113			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.337G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226129	0.58668	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05513	5.06;3.43;5.04	4.8	4.8	0.61643	PDZ/DHR/GLGF (1);	0.103731	0.64402	D	0.000003	T	0.08313	0.0207	L	0.55834	1.745	0.58432	D	0.999998	B	0.32693	0.38	B	0.25759	0.063	T	0.28004	-1.0057	10	0.25751	T	0.34	-33.0775	18.0621	0.89380	0.0:1.0:0.0:0.0	.	113	P29475	NOS1_HUMAN	S	113	ENSP00000320758:G113S;ENSP00000339862:G113S;ENSP00000337459:G113S	ENSP00000320758:G113S	G	-	1	0	NOS1	116252921	0.998000	0.40836	0.299000	0.25016	0.168000	0.22595	4.493000	0.60341	2.492000	0.84095	0.555000	0.69702	GGT		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			15	24	0	0	0	1	0	15	24				
OR2M3	127062	broad.mit.edu	37	1	248366912	248366912	+	Frame_Shift_Del	DEL	C	C	-	rs184976590		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248366912delC	ENST00000456743.1	+	1	581	c.543delC	c.(541-543)ttcfs	p.F181fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGTGACTTCCCCTCCCTAC	0.423																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(541-543)ttfs		olfactory receptor, family 2, subfamily M, member 3							230.0	223.0	225.0					1																	248366912		2203	4300	6503	SO:0001589	frameshift_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366912delC		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.543delC	1.37:g.248366912delC	ENSP00000389625:p.Phe181fs						p.F181fs	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	581	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		181					B9EH06|Q6IEY0	Frame_Shift_Del	DEL	ENST00000456743.1	37	c.543delC	CCDS31107.1																																																																																				0.423	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		42	144						42	144	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		2	4						2	4	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	lincRNA	INS	-	-	TTT	rs145057012|rs10622810|rs60637656		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr4:105918246_105918247insTTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317																																						ENST00000506386.1																			0																																																			0							g.chr4:105918246_105918247insTTT																													4.37:g.105918253_105918255dupTTT														0	71	+									RNA	INS	ENST00000506386.1	37																																																																																						0.317	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			2	4						2	4	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601																																						ENST00000309241.5																			1	Substitution - Missense(1)	p.S795N(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2380-2385)gac>ga		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216400_149216402delCAG	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2382_2384delCAG	5.37:g.149216409_149216411delCAG	ENSP00000312649:p.Ser799del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del	p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2414_2416	+			794			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2382_2384delCAG	CCDS4298.1																																																																																				0.601	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		7	147						7	147	---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22570347	22570349	+	In_Frame_Del	DEL	GGC	GGC	-	rs370190435		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:22570347_22570349delGGC	ENST00000230012.3	+	1	670_672	c.543_545delGGC	c.(541-546)agggcg>agg	p.A188del	HDGFL1_ENST00000510882.2_In_Frame_Del_p.A188del	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					aagcggagagggcggcggcggcg	0.768																																						ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-546)agg>ag		hepatoma derived growth factor-like 1																																				SO:0001651	inframe_deletion	154150							g.chr6:22570347_22570349delGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.543_545delGGC	6.37:g.22570356_22570358delGGC	ENSP00000230012:p.Ala188del					HDGFL1_ENST00000230012.3_In_Frame_Del_p.RA181del	p.RA181del			Q5TGJ6	HDGL1_HUMAN			1	553_555	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Del	DEL	ENST00000230012.3	37	c.543_545delGGC	CCDS34347.1																																																																																				0.768	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		3	5						3	5	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19592913	19592913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:19592913delG	ENST00000398864.3	+	1	306	c.280delG	c.(280-282)gggfs	p.G94fs	AEBP2_ENST00000266508.9_Frame_Shift_Del_p.G94fs|AEBP2_ENST00000360995.4_5'Flank|AEBP2_ENST00000541908.1_Intron	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	94	Glu-rich.|Gly-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CAGCCAGGCCGGggaggacga	0.741																																						ENST00000266508.9																			0				ovary(1)	1						c.(280-282)ggfs		AE binding protein 2							39.0	63.0	55.0					12																	19592913		691	1591	2282	SO:0001589	frameshift_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19592913delG		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.280delG	12.37:g.19592913delG	ENSP00000381840:p.Gly94fs					AEBP2_ENST00000398864.3_Frame_Shift_Del_p.G94fs|AEBP2_ENST00000541908.1_Intron	p.G94fs	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			1	281	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		94			Glu-rich.|Gly-rich.		Q59FS5|Q6ZN62|Q96BG3	Frame_Shift_Del	DEL	ENST00000398864.3	37	c.280delG	CCDS44841.1																																																																																				0.741	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		2	4						2	4	---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1506159	1506159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr16:1506159delC	ENST00000382745.4	-	10	1476	c.871delG	c.(871-873)gcafs	p.A291fs	CLCN7_ENST00000262318.8_Frame_Shift_Del_p.A267fs|CLCN7_ENST00000448525.1_Frame_Shift_Del_p.A267fs	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	291					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCCCTGCGGAGACGAAG	0.652																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(871-873)cafs		chloride channel, voltage-sensitive 7							15.0	16.0	16.0					16																	1506159		2163	4254	6417	SO:0001589	frameshift_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1506159delC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.871delG	16.37:g.1506159delC	ENSP00000372193:p.Ala291fs					CLCN7_ENST00000262318.8_Frame_Shift_Del_p.A267fs|CLCN7_ENST00000448525.1_Frame_Shift_Del_p.A267fs	p.A291fs	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			10	1476	-		Hepatocellular(780;0.0893)	291					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Frame_Shift_Del	DEL	ENST00000382745.4	37	c.871delG	CCDS32361.1																																																																																				0.652	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		2	4						2	4	---	---	---	---
