#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
COL6A3	1293	broad.mit.edu	37	2	238277572	238277572	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:238277572A>G	ENST00000295550.4	-	10	4986	c.4534T>C	c.(4534-4536)Tcc>Ccc	p.S1512P	COL6A3_ENST00000353578.4_Missense_Mutation_p.S1306P|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1312P|COL6A3_ENST00000472056.1_Missense_Mutation_p.S905P|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1311P|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1306P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1512	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCAGTGGGGACCCCCCTCTG	0.562																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4534-4536)Tcc>Ccc		collagen, type VI, alpha 3							47.0	48.0	48.0					2																	238277572		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277572A>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4534T>C	2.37:g.238277572A>G	ENSP00000295550:p.Ser1512Pro					COL6A3_ENST00000346358.4_Missense_Mutation_p.S1312P|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1311P|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1306P|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1306P|COL6A3_ENST00000472056.1_Missense_Mutation_p.S905P	p.S1512P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4986	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1512			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4534T>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	6.865	0.528991	0.13127	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.36	-0.222	0.13122	von Willebrand factor, type A (3);	0.119880	0.38164	N	0.001798	D	0.83156	0.5193	L	0.45470	1.425	0.09310	N	1	D;D;B	0.69078	0.997;0.989;0.099	D;D;B	0.70227	0.968;0.923;0.055	T	0.72453	-0.4289	10	0.36615	T	0.2	.	5.3916	0.16247	0.3472:0.472:0.0664:0.1144	.	905;1306;1512	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	P	1512;1311;1306;905;1306;1312	ENSP00000295550:S1512P;ENSP00000315609:S1311P;ENSP00000315873:S1306P;ENSP00000418285:S905P;ENSP00000386844:S1306P;ENSP00000295546:S1312P	ENSP00000295550:S1512P	S	-	1	0	COL6A3	237942311	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	0.038000	0.13862	-0.267000	0.09325	-0.313000	0.08912	TCC		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	49	0	0	0	1	0	4	49				
FBXL18	80028	broad.mit.edu	37	7	5540405	5540405	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:5540405T>C	ENST00000382368.3	-	3	1618	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	FBXL18_ENST00000453700.3_Missense_Mutation_p.M499V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	499									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCGGGGCATGGCGGAGGAG	0.672																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1495-1497)Atg>Gtg		F-box and leucine-rich repeat protein 18							13.0	17.0	16.0					7																	5540405		2111	4217	6328	SO:0001583	missense	80028							g.chr7:5540405T>C	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1495A>G	7.37:g.5540405T>C	ENSP00000371805:p.Met499Val					FBXL18_ENST00000453700.3_Missense_Mutation_p.M499V	p.M499V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1618	-		Ovarian(82;0.0607)	499					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1495A>G	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.70|14.70	2.614267|2.614267	0.46631|0.46631	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.40756	.|1.02;1.02	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.039558	.|0.85682	.|D	.|0.000000	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.29908|0.29908	0.895|0.895	0.45554|0.45554	D|D	0.998509|0.998509	.|P;P	.|0.46859	.|0.885;0.794	.|P;B	.|0.45753	.|0.492;0.406	T|T	0.32214|0.32214	-0.9915|-0.9915	6|10	0.87932|0.62326	D|D	0|0.03	.|.	14.6933|14.6933	0.69101|0.69101	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|499;499	.|F5H4Z4;Q96ME1-4	.|.;.	R|V	58|499	.|ENSP00000371805:M499V;ENSP00000444797:M499V	ENSP00000297035:H58R|ENSP00000311990:M499V	H|M	-|-	2|1	0|0	FBXL18|FBXL18	5506931|5506931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.737000|4.737000	0.62066|0.62066	2.140000|2.140000	0.66376|0.66376	0.477000|0.477000	0.44152|0.44152	CAT|ATG		0.672	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		16	63	0	0	0	1	0	16	63				
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|FBXL6_ENST00000526524.1_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTGGTGGTCAAAGAGCTTCCA	0.647																																						ENST00000532887.1																			0											c.(115-117)aAa>aGa		solute carrier family 52 (riboflavin transporter), member 2							98.0	89.0	92.0					8																	145583069		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583069A>G	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.116A>G	8.37:g.145583069A>G	ENSP00000436768:p.Lys39Arg					SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron	p.K39R			Q9HAB3	RFT3_HUMAN			2	699	+			39					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.116A>G	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008546	0.54361	.	.	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.12	1.72	0.24424	.	0.177750	0.48767	D	0.000176	T	0.79639	0.4480	M	0.72118	2.19	0.52501	D	0.99995	D	0.69078	0.997	D	0.75020	0.985	T	0.74509	-0.3642	10	0.19147	T	0.46	.	6.2933	0.21071	0.7763:0.0:0.2237:0.0	.	39	Q9HAB3	RFT3_HUMAN	R	39	ENSP00000434239:K39R;ENSP00000435820:K39R;ENSP00000434728:K39R;ENSP00000433583:K39R;ENSP00000385961:K39R;ENSP00000431965:K39R;ENSP00000436768:K39R;ENSP00000333638:K39R;ENSP00000433796:K39R	ENSP00000333638:K39R	K	+	2	0	GPR172A	145553877	0.709000	0.27886	0.942000	0.38095	0.876000	0.50452	2.512000	0.45485	0.459000	0.27016	0.334000	0.21626	AAA		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		5	42	0	0	0	1	0	5	42				
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7579311C>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(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	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579311C>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.375+1G>A	17.37:g.7579311C>T		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_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015182	0.75161	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	41	48	0	0	0	1	0	41	48				
ADSL	158	broad.mit.edu	37	22	40762494	40762494	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr22:40762494G>A	ENST00000216194.7	+	13	1479	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	ADSL_ENST00000454266.2_Missense_Mutation_p.V489M|ADSL_ENST00000342312.6_Missense_Mutation_p.V416M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	475					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATATGAAAGCGTGATGAAGGT	0.358																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(1423-1425)Gtg>Atg		adenylosuccinate lyase							128.0	121.0	123.0					22																	40762494		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40762494G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1423G>A	22.37:g.40762494G>A	ENSP00000216194:p.Val475Met					ADSL_ENST00000342312.6_Missense_Mutation_p.V416M|ADSL_ENST00000454266.2_Missense_Mutation_p.V489M|RP5-1042K10.13_ENST00000498234.1_RNA	p.V475M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			13	1479	+			475					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.1423G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478565	0.44044	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.96011	-3.88;-3.87;-3.61	5.47	3.29	0.37713	.	0.291585	0.36234	N	0.002719	D	0.88926	0.6570	L	0.28556	0.865	0.09310	N	0.999993	B;B;B;B	0.20459	0.045;0.036;0.001;0.001	B;B;B;B	0.14578	0.011;0.006;0.001;0.001	T	0.76937	-0.2774	10	0.30078	T	0.28	-5.8136	4.4035	0.11399	0.2563:0.1848:0.559:0.0	.	489;416;475;475	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	M	475;489;295;416	ENSP00000216194:V475M;ENSP00000390107:V489M;ENSP00000341429:V416M	ENSP00000216194:V475M	V	+	1	0	ADSL	39092440	1.000000	0.71417	0.666000	0.29783	0.892000	0.51952	3.110000	0.50352	1.547000	0.49401	0.655000	0.94253	GTG		0.358	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		4	47	0	0	0	1	0	4	47				
MYO3B	140469	broad.mit.edu	37	2	171509614	171509614	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:171509614T>C	ENST00000408978.4	+	35	4152	c.4009T>C	c.(4009-4011)Tct>Cct	p.S1337P	MYO3B_ENST00000409044.3_Missense_Mutation_p.S1310P|MYO3B_ENST00000334231.6_Missense_Mutation_p.S1346P|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1337					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAAAGGAGACTCTTTTGCTCA	0.418																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(4036-4038)Tct>Cct		myosin IIIB							139.0	134.0	135.0					2																	171509614		1869	4103	5972	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171509614T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.4009T>C	2.37:g.171509614T>C	ENSP00000386213:p.Ser1337Pro					MYO3B_ENST00000408978.4_Missense_Mutation_p.S1337P|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1310P|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR	p.S1346P			Q8WXR4	MYO3B_HUMAN			35	4036	+			1337					B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.4036T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	4.750	0.139526	0.09083	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000334231	T;T;T	0.78816	-1.21;-1.16;-1.17	5.53	1.21	0.21127	.	1.513960	0.04239	N	0.336569	T	0.65407	0.2688	N	0.22421	0.69	0.20563	N	0.999884	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.49113	-0.8973	10	0.30854	T	0.27	.	7.5917	0.28025	0.0:0.1492:0.1215:0.7293	.	1310;1337	Q8WXR4-4;Q8WXR4	.;MYO3B_HUMAN	P	1310;1337;1346	ENSP00000386497:S1310P;ENSP00000386213:S1337P;ENSP00000335100:S1346P	ENSP00000335100:S1346P	S	+	1	0	MYO3B	171217860	0.996000	0.38824	0.026000	0.17262	0.044000	0.14063	0.822000	0.27352	0.334000	0.23590	0.374000	0.22700	TCT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			6	56	0	0	0	1	0	6	56				
PSG8	440533	broad.mit.edu	37	19	43262370	43262370	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:43262370C>A	ENST00000306511.4	-	3	590	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.V43L|PSG8_ENST00000404209.4_Missense_Mutation_p.V165L|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	165	Ig-like C2-type 1.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAAGCTCACAGCCTCCATG	0.537																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(493-495)Gtg>Ttg		pregnancy specific beta-1-glycoprotein 8							203.0	208.0	206.0					19																	43262370		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43262370C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.493G>T	19.37:g.43262370C>A	ENSP00000305005:p.Val165Leu					PSG8_ENST00000306511.4_Missense_Mutation_p.V165L|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.V43L|PSG8_ENST00000600709.1_5'UTR	p.V165L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			3	589	-		Prostate(69;0.00899)	165			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.493G>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	10.71	1.426744	0.25726	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000306511	T;T;T	0.15139	2.45;2.45;2.45	1.53	0.111	0.14619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18676	0.0448	L	0.31578	0.945	0.09310	N	1	B;P;D;D	0.58970	0.025;0.837;0.98;0.984	B;P;P;P	0.59948	0.065;0.583;0.789;0.866	T	0.23440	-1.0188	9	0.25106	T	0.35	.	4.2401	0.10643	0.3958:0.6041:0.0:0.0	.	43;165;165;165	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	L	165;40;43;165	ENSP00000385869:V165L;ENSP00000385081:V43L;ENSP00000305005:V165L	ENSP00000292109:V40L	V	-	1	0	PSG8	47954210	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	0.445000	0.21677	0.835000	0.34877	0.298000	0.19748	GTG		0.537	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			18	223	1	0	2.4624e-09	1	2.80599e-09	18	223				
ERCC1	2067	broad.mit.edu	37	19	45916941	45916941	+	Silent	SNP	A	A	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:45916941A>T	ENST00000300853.3	-	9	1428	c.837T>A	c.(835-837)ccT>ccA	p.P279P	ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000340192.7_Silent_p.P255P|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000589165.1_Silent_p.P279P|ERCC1_ENST00000423698.2_Silent_p.P207P|ERCC1_ENST00000013807.5_Silent_p.P279P	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	279	HhH2, dimerization with ERCC4.				cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTACTTTCTGAGGGCCCAGGC	0.522								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(835-837)ccT>ccA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)							99.0	104.0	102.0					19																	45916941		2203	4300	6503	SO:0001819	synonymous_variant	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45916941A>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.837T>A	19.37:g.45916941A>T						ERCC1_ENST00000340192.7_Silent_p.P255P|ERCC1_ENST00000589165.1_Silent_p.P279P|ERCC1_ENST00000013807.5_Silent_p.P279P|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.P207P	p.P279P	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	9	1428	-		Ovarian(192;0.051)|all_neural(266;0.112)	279					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	c.837T>A	CCDS12662.1																																																																																				0.522	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		12	98	0	0	0	1	0	12	98				
BRD8	10902	broad.mit.edu	37	5	137501597	137501597	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr5:137501597T>C	ENST00000254900.5	-	11	1569	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	BRD8_ENST00000230901.5_Missense_Mutation_p.M473V|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000411594.2_Missense_Mutation_p.M403V|BRD8_ENST00000402931.1_Missense_Mutation_p.M400V|BRD8_ENST00000455658.2_Missense_Mutation_p.M359V	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	400					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAATATCCATCTTCTCAGCC	0.458																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(1198-1200)Atg>Gtg		bromodomain containing 8							160.0	155.0	157.0					5																	137501597		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137501597T>C	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1198A>G	5.37:g.137501597T>C	ENSP00000254900:p.Met400Val					BRD8_ENST00000411594.2_Missense_Mutation_p.M403V|BRD8_ENST00000230901.5_Missense_Mutation_p.M473V|BRD8_ENST00000455658.2_Missense_Mutation_p.M359V|BRD8_ENST00000402931.1_Missense_Mutation_p.M400V	p.M400V	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1569	-			400					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1198A>G	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845033	0.71603	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T	0.32272	1.86;1.46;1.46;1.61;1.62;1.46;1.62	5.65	5.65	0.86999	.	0.114259	0.64402	D	0.000003	T	0.40372	0.1114	N	0.24115	0.695	0.50813	D	0.99989	P;D;D;P;P;P;D;D	0.61080	0.894;0.989;0.986;0.842;0.679;0.955;0.979;0.971	P;D;D;B;P;P;P;P	0.69654	0.702;0.958;0.965;0.318;0.65;0.64;0.725;0.666	T	0.16100	-1.0414	10	0.35671	T	0.21	-12.2342	15.2098	0.73214	0.0:0.0:0.0:1.0	.	359;384;179;473;403;294;473;400	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	V	400;429;398;473;400;403;294;359;19	ENSP00000254900:M400V;ENSP00000398067:M429V;ENSP00000398873:M398V;ENSP00000230901:M473V;ENSP00000384845:M400V;ENSP00000394330:M403V;ENSP00000408396:M359V	ENSP00000230901:M473V	M	-	1	0	BRD8	137529496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.829000	0.75314	2.371000	0.80710	0.533000	0.62120	ATG		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		6	52	0	0	0	1	0	6	52				
CFAP61	26074	broad.mit.edu	37	20	20123549	20123549	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:20123549A>T	ENST00000245957.5	+	9	984	c.908A>T	c.(907-909)gAg>gTg	p.E303V	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.E303V|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.E303V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		303										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATAGTCGAGGAGTTGCAGGAA	0.488																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(907-909)gAg>gTg		chromosome 20 open reading frame 26							48.0	40.0	43.0					20																	20123549		2203	4299	6502	SO:0001583	missense	26074							g.chr20:20123549A>T																												ENST00000245957.5:c.908A>T	20.37:g.20123549A>T	ENSP00000245957:p.Glu303Val					C20orf26_ENST00000377306.1_Missense_Mutation_p.E303V|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.E303V|C20orf26_ENST00000377309.2_5'UTR	p.E303V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	9	984	+			303					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.908A>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803080	0.31869	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	T;T;T	0.08193	3.12;3.12;3.12	4.26	3.14	0.36123	.	0.790091	0.11839	N	0.524499	T	0.08537	0.0212	L	0.53249	1.67	0.39362	D	0.965947	P;B;B;B	0.38078	0.617;0.239;0.418;0.253	B;B;B;B	0.33799	0.11;0.048;0.076;0.17	T	0.24476	-1.0159	10	0.33141	T	0.24	.	7.8717	0.29569	0.7893:0.2107:0.0:0.0	.	303;303;258;303	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	V	258;303;303;303;303;303;62;95	ENSP00000245957:E303V;ENSP00000366521:E303V;ENSP00000414537:E303V	ENSP00000245957:E303V	E	+	2	0	C20orf26	20071549	0.826000	0.29277	0.519000	0.27824	0.097000	0.18754	1.408000	0.34668	0.941000	0.37499	0.533000	0.62120	GAG		0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			4	13	0	0	0	1	0	4	13				
CWC25	54883	broad.mit.edu	37	17	36958970	36958970	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:36958970C>T	ENST00000225428.5	-	9	1443	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	CWC25_ENST00000536127.1_Silent_p.R319R|PIP4K2B_ENST00000269554.3_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	382										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACTTCCCATCCCGGGAGTCCA	0.547																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1144-1146)cgG>cgA		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							144.0	147.0	146.0					17																	36958970		1979	4159	6138	SO:0001819	synonymous_variant	54883							g.chr17:36958970C>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1146G>A	17.37:g.36958970C>T						CWC25_ENST00000536127.1_Silent_p.R319R	p.R382R	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			9	1443	-			382					A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	c.1146G>A	CCDS45663.1																																																																																				0.547	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		7	92	0	0	0	1	0	7	92				
EXPH5	23086	broad.mit.edu	37	11	108381318	108381318	+	Missense_Mutation	SNP	C	C	T	rs201764835		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:108381318C>T	ENST00000265843.4	-	6	5026	c.4916G>A	c.(4915-4917)tGc>tAc	p.C1639Y	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.C1563Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C1451Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1632Y	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1639					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTGGGTTGCACTCCACTGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21386	0.0		0.001	False		,,,				2504	0.0					ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4915-4917)tGc>tAc		exophilin 5							124.0	121.0	122.0					11																	108381318		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381318C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4916G>A	11.37:g.108381318C>T	ENSP00000265843:p.Cys1639Tyr					EXPH5_ENST00000525344.1_Missense_Mutation_p.C1632Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.C1563Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C1451Y	p.C1639Y	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5026	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1639					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4916G>A	CCDS8341.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.66	1.412910	0.25465	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.02974	4.31;4.24;4.09;4.31;4.16	5.73	-1.35	0.09114	.	1.320570	0.04579	N	0.394680	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49457	-0.8938	10	0.11485	T	0.65	1.6068	2.369	0.04326	0.1479:0.4044:0.094:0.3537	.	1639	Q8NEV8	EXPH5_HUMAN	Y	1639;1563;1451;1632;1563	ENSP00000265843:C1639Y;ENSP00000391966:C1563Y;ENSP00000411390:C1451Y;ENSP00000432546:C1632Y;ENSP00000432683:C1563Y	ENSP00000265843:C1639Y	C	-	2	0	EXPH5	107886528	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.639000	0.05446	0.062000	0.16340	0.650000	0.86243	TGC		0.483	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		48	37	0	0	0	1	0	48	37				
CD109	135228	broad.mit.edu	37	6	74491008	74491008	+	Silent	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:74491008T>C	ENST00000287097.5	+	17	2041	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	CD109_ENST00000437994.2_Silent_p.D643D|CD109_ENST00000422508.2_Silent_p.D566D			Q6YHK3	CD109_HUMAN	CD109 molecule	643	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTGACAGATGCAAACCTCA	0.323																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1927-1929)gaT>gaC		CD109 molecule							165.0	156.0	159.0					6																	74491008		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74491008T>C	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1929T>C	6.37:g.74491008T>C						CD109_ENST00000287097.5_Silent_p.D643D|CD109_ENST00000422508.2_Silent_p.D566D	p.D643D	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			17	2360	+			643			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.1929T>C	CCDS4982.1																																																																																				0.323	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		5	33	0	0	0	1	0	5	33				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:49724313G>T	ENST00000257909.3	+	13	1761	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000551245.1_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592																																						ENST00000551245.1																			1	Substitution - Missense(1)	p.S562I(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1684-1686)aGt>aTt		trophinin associated protein		G	ILE/SER	1,4405		0,1,2202	69.0	67.0	68.0		1685	-1.1	0.0	12		68	0,8600		0,0,4300	no	missense	TROAP	NM_005480.3	142	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	562/779	49724313	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724313G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1685G>T	12.37:g.49724313G>T	ENSP00000257909:p.Ser562Ile					TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I	p.S562I			Q12815	TROAP_HUMAN			13	1796	+			562			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1685G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880628	0.33255	2.27E-4	0.0	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-1.09	0.09904	.	.	.	.	.	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;P	0.35982	0.001;0.001;0.531	B;B;B	0.34779	0.002;0.002;0.189	T	0.14671	-1.0464	8	0.51188	T	0.08	.	1.3245	0.02123	0.2218:0.1838:0.4332:0.1612	.	562;270;562	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	562;562;270	.	ENSP00000257909:S562I	S	+	2	0	TROAP	48010580	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.031000	0.13710	-0.625000	0.05604	0.313000	0.20887	AGT		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		4	69	1	0	0.150653	1	0.153792	4	69				
UNC93A	54346	broad.mit.edu	37	6	167728856	167728856	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:167728856C>T	ENST00000230256.3	+	8	1465	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	UNC93A_ENST00000366829.2_Silent_p.C388C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	430						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGTGGAGTGCGTGGAGTCCA	0.542																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1288-1290)tgC>tgT		unc-93 homolog A (C. elegans)							221.0	238.0	232.0					6																	167728856		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728856C>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1290C>T	6.37:g.167728856C>T						UNC93A_ENST00000366829.2_Silent_p.C388C	p.C430C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1465	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	430					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1290C>T	CCDS5300.1																																																																																				0.542	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		27	323	0	0	0	1	0	27	323				
ZNF217	7764	broad.mit.edu	37	20	52192452	52192452	+	Missense_Mutation	SNP	T	T	C	rs376508387		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:52192452T>C	ENST00000371471.2	-	4	3276	c.2851A>G	c.(2851-2853)Atc>Gtc	p.I951V	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.I951V			O75362	ZN217_HUMAN	zinc finger protein 217	951					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTGATGTGATGCCTCTGACC	0.542																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2851-2853)Atc>Gtc		zinc finger protein 217		T	VAL/ILE	0,4406		0,0,2203	155.0	122.0	133.0		2851	2.9	0.0	20		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF217	NM_006526.2	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	951/1049	52192452	1,13005	2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192452T>C	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2851A>G	20.37:g.52192452T>C	ENSP00000360526:p.Ile951Val					ZNF217_ENST00000302342.3_Missense_Mutation_p.I951V	p.I951V			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	3276	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		951					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.2851A>G	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450504	0.26074	0.0	1.16E-4	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09350	2.99;2.99	5.22	2.9	0.33743	.	0.515271	0.17979	N	0.155588	T	0.09949	0.0244	L	0.50333	1.59	0.09310	N	1	B	0.22480	0.07	B	0.19148	0.024	T	0.26360	-1.0105	10	0.48119	T	0.1	-14.4658	5.7402	0.18089	0.2007:0.0:0.2959:0.5034	.	951	O75362	ZN217_HUMAN	V	951;951;39;111	ENSP00000360526:I951V;ENSP00000304308:I951V	ENSP00000304308:I951V	I	-	1	0	ZNF217	51625859	0.009000	0.17119	0.001000	0.08648	0.029000	0.11900	0.493000	0.22451	0.294000	0.22547	0.528000	0.53228	ATC		0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		6	76	0	0	0	1	0	6	76				
IGHG1	3500	broad.mit.edu	37	14	106209367	106209367	+	RNA	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr14:106209367G>A	ENST00000390548.2	-	0	41							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGCTCTTGGAGGAGGGTGCCA	0.672																																						ENST00000390548.2																			0																				33.0	36.0	35.0					14																	106209367		2030	4178	6208			0							g.chr14:106209367G>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106209367G>A														0	41	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.672	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		4	54	0	0	0	1	0	4	54				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	148	0	0	0	1	0	8	148				
PPRC1	23082	broad.mit.edu	37	10	103906760	103906760	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr10:103906760G>C	ENST00000278070.2	+	9	4050	c.4011G>C	c.(4009-4011)ttG>ttC	p.L1337F	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.L304F|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTTGTCCTTGGGCCCAGCTG	0.607																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4009-4011)ttG>ttC		peroxisome proliferator-activated receptor gamma, coactivator-related 1							53.0	48.0	50.0					10																	103906760		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906760G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4011G>C	10.37:g.103906760G>C	ENSP00000278070:p.Leu1337Phe					PPRC1_ENST00000370012.1_Missense_Mutation_p.L304F|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	p.L1337F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4050	+		Colorectal(252;0.122)	1337					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4011G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142557	0.37825	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.35421	1.67;1.31	5.76	4.8	0.61643	.	0.328999	0.29459	N	0.012094	T	0.51839	0.1698	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.45659	-0.9246	10	0.39692	T	0.17	.	8.5129	0.33229	0.0863:0.1574:0.7563:0.0	.	1217;1337	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	F	1337;304	ENSP00000278070:L1337F;ENSP00000359029:L304F	ENSP00000278070:L1337F	L	+	3	2	PPRC1	103896750	0.994000	0.37717	1.000000	0.80357	0.253000	0.25986	1.443000	0.35057	2.724000	0.93272	0.462000	0.41574	TTG		0.607	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	71	0	0	0	1	0	3	71				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	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			25	44	0	0	0	1	0	25	44				
IGFBP2	3485	broad.mit.edu	37	2	217525369	217525369	+	Missense_Mutation	SNP	C	C	T	rs200421058		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217525369C>T	ENST00000233809.4	+	2	661	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	IGFBP2_ENST00000456764.1_Missense_Mutation_p.R34W	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	178					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGTGCTGGCCGGAAGCCCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17418	0.001		0.0	False		,,,				2504	0.0					ENST00000233809.4																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(532-534)Cgg>Tgg		insulin-like growth factor binding protein 2, 36kDa							27.0	33.0	31.0					2																	217525369		2039	4181	6220	SO:0001583	missense	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217525369C>T		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.532C>T	2.37:g.217525369C>T	ENSP00000233809:p.Arg178Trp					IGFBP2_ENST00000456764.1_Missense_Mutation_p.R34W	p.R178W	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	2	661	+		Renal(323;0.0458)	178					Q14619|Q9UCL3	Missense_Mutation	SNP	ENST00000233809.4	37	c.532C>T	CCDS42815.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.47	3.131132	0.56828	.	.	ENSG00000115457	ENST00000434997;ENST00000233809;ENST00000456764	T;T	0.15017	3.13;2.46	4.42	2.52	0.30459	.	0.744100	0.12885	N	0.431111	T	0.30293	0.0760	L	0.38175	1.15	0.47778	D	0.999519	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.01520	-1.1334	10	0.66056	D	0.02	-18.7483	10.57	0.45194	0.5814:0.4186:0.0:0.0	.	212;178	Q59FF1;P18065	.;IBP2_HUMAN	W	12;178;34	ENSP00000233809:R178W;ENSP00000389646:R34W	ENSP00000233809:R178W	R	+	1	2	IGFBP2	217233614	0.989000	0.36119	0.962000	0.40283	0.801000	0.45260	1.251000	0.32862	0.413000	0.25759	0.655000	0.94253	CGG		0.612	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		10	53	0	0	0	1	0	10	53				
LRIG3	121227	broad.mit.edu	37	12	59276787	59276787	+	Silent	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:59276787G>A	ENST00000320743.3	-	12	1630	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	LRIG3_ENST00000379141.4_Silent_p.C388C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	448	LRRCT.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTGGCAATCGCACAAAAGGC	0.403			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1342-1344)tgC>tgT		leucine-rich repeats and immunoglobulin-like domains 3							65.0	63.0	64.0					12																	59276787		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59276787G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1344C>T	12.37:g.59276787G>A						LRIG3_ENST00000379141.4_Silent_p.C388C	p.C448C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		12	1630	-			448			LRRCT.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1344C>T	CCDS8960.1																																																																																				0.403	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		3	57	0	0	0	1	0	3	57				
DNAJC6	9829	broad.mit.edu	37	1	65858364	65858364	+	Silent	SNP	T	T	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:65858364T>G	ENST00000395325.3	+	12	1705	c.1548T>G	c.(1546-1548)gcT>gcG	p.A516A	DNAJC6_ENST00000371069.4_Silent_p.A573A|DNAJC6_ENST00000263441.7_Silent_p.A503A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	516	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCAGCGGCTCCTCCCACCA	0.582																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1546-1548)gcT>gcG		DnaJ (Hsp40) homolog, subfamily C, member 6							46.0	45.0	45.0					1																	65858364		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65858364T>G	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1548T>G	1.37:g.65858364T>G						DNAJC6_ENST00000263441.7_Silent_p.A503A|DNAJC6_ENST00000371069.4_Silent_p.A573A	p.A516A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			12	1705	+			516			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1548T>G	CCDS30739.1																																																																																				0.582	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			5	44	0	0	0	1	0	5	44				
HIVEP2	3097	broad.mit.edu	37	6	143095693	143095693	+	Silent	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:143095693T>C	ENST00000367604.1	-	4	822	c.183A>G	c.(181-183)gcA>gcG	p.A61A	HIVEP2_ENST00000012134.2_Silent_p.A61A|HIVEP2_ENST00000367603.2_Silent_p.A61A			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAAACAGTTGTGCTGATGCTG	0.498																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(181-183)gcA>gcG		human immunodeficiency virus type I enhancer binding protein 2							194.0	201.0	199.0					6																	143095693		2096	4238	6334	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143095693T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.183A>G	6.37:g.143095693T>C						HIVEP2_ENST00000012134.2_Silent_p.A61A|HIVEP2_ENST00000367604.1_Silent_p.A61A	p.A61A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	925	-			61					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.183A>G	CCDS43510.1																																																																																				0.498	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			27	187	0	0	0	1	0	27	187				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	92	1	0	5.18039e-06	1	5.64087e-06	5	92				
FLRT2	23768	broad.mit.edu	37	14	86089274	86089274	+	Silent	SNP	C	C	T	rs146568257	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr14:86089274C>T	ENST00000330753.4	+	2	2183	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	FLRT2_ENST00000554746.1_Silent_p.S472S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	472	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517													c|||	14	0.00279553	0.0	0.0086	5008	,	,		17661	0.0		0.008	False		,,,				2504	0.0					ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1414-1416)agC>agT		fibronectin leucine rich transmembrane protein 2		T		4,4402	8.1+/-20.4	0,4,2199	136.0	117.0	123.0		1416	-7.4	0.5	14	dbSNP_134	123	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous	FLRT2	NM_013231.4		0,38,6465	TT,TC,CC		0.3953,0.0908,0.2922		472/661	86089274	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089274C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1416C>T	14.37:g.86089274C>T						FLRT2_ENST00000554746.1_Silent_p.S472S	p.S472S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2183	+			472			Fibronectin type-III.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.1416C>T	CCDS9877.1																																																																																				0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			40	90	0	0	0	1	0	40	90				
MUC16	94025	broad.mit.edu	37	19	8987333	8987333	+	Splice_Site	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:8987333G>A	ENST00000397910.4	-	68	41957	c.41754C>T	c.(41752-41754)acC>acT	p.T13918T	MUC16_ENST00000380951.5_Splice_Site_p.T559T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13943				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T13918T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCACCCCGGCTAGGGCAG	0.597																																						ENST00000397910.4																			1	Substitution - coding silent(1)	p.T13918T(1)	endometrium(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e68-1		mucin 16, cell surface associated							75.0	70.0	72.0					19																	8987333		2096	4236	6332	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8987333G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41753-1C>T	19.37:g.8987333G>A						MUC16_ENST00000380951.5_Splice_Site_p.T559_splice	p.T13918_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			68	41957	-			13921	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.41752_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445200	0.04604	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.45	-1.76	0.08006	.	.	.	.	.	T	0.39036	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47983	-0.9074	3	.	.	.	.	8.1489	0.31128	0.4404:0.0:0.5596:0.0	.	.	.	.	L	758	.	.	P	-	2	0	MUC16	8848333	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.704000	0.05058	-0.438000	0.07232	-0.384000	0.06662	CCG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Silent	13	95	0	0	0	1	0	13	95				
MDN1	23195	broad.mit.edu	37	6	90397120	90397120	+	Missense_Mutation	SNP	C	C	T	rs370169447		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:90397120C>T	ENST00000369393.3	-	68	11508	c.11393G>A	c.(11392-11394)cGg>cAg	p.R3798Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R3798Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3798					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGATGTTTCCGCAAAGACAA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19871	0.0		0.0	False		,,,				2504	0.001					ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(11392-11394)cGg>cAg		MDN1, midasin homolog (yeast)		C	GLN/ARG	0,4406		0,0,2203	108.0	96.0	100.0		11393	6.1	1.0	6		100	2,8598	2.2+/-6.3	0,2,4298	no	missense	MDN1	NM_014611.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	3798/5597	90397120	2,13004	2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90397120C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11393G>A	6.37:g.90397120C>T	ENSP00000358400:p.Arg3798Gln					MDN1_ENST00000428876.1_Missense_Mutation_p.R3798Q	p.R3798Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	68	11508	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3798					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11393G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403758	0.83230	0.0	2.33E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03094	4.05;4.05	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.10465	0.0256	M	0.78916	2.43	0.54753	D	0.999988	D	0.89917	1.0	D	0.63957	0.92	T	0.33240	-0.9876	10	0.13470	T	0.59	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	3798	Q9NU22	MDN1_HUMAN	Q	3798	ENSP00000358400:R3798Q;ENSP00000413970:R3798Q	ENSP00000358400:R3798Q	R	-	2	0	MDN1	90453841	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	6.051000	0.71072	2.885000	0.99019	0.655000	0.94253	CGG		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	50	0	0	0	1	0	7	50				
VSIG4	11326	broad.mit.edu	37	X	65253475	65253475	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:65253475G>A	ENST00000374737.4	-	2	361	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	VSIG4_ENST00000455586.2_Missense_Mutation_p.R85C|VSIG4_ENST00000412866.2_Missense_Mutation_p.R85C	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	85	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATGCAGGCGGCCCTGGTAC	0.547																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(253-255)Cgc>Tgc		V-set and immunoglobulin domain containing 4							121.0	102.0	108.0					X																	65253475		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253475G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.253C>T	X.37:g.65253475G>A	ENSP00000363869:p.Arg85Cys					VSIG4_ENST00000412866.2_Missense_Mutation_p.R85C|VSIG4_ENST00000374737.4_Missense_Mutation_p.R85C	p.R85C	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	379	-			85			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.253C>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.43|11.43	1.637215|1.637215	0.29157|0.29157	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.10477	.|2.87;2.87;2.87	4.93|4.93	3.17|3.17	0.36434|0.36434	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.104783	.|0.42964	.|N	.|0.000622	T|T	0.30166|0.30166	0.0756|0.0756	M|M	0.81341|0.81341	2.54|2.54	0.47245|0.47245	D|D	0.999365|0.999365	.|P;D;D;D;D	.|0.89917	.|0.932;1.0;1.0;0.968;1.0	.|B;D;D;P;D	.|0.97110	.|0.362;1.0;0.999;0.482;1.0	T|T	0.01068|0.01068	-1.1462|-1.1462	5|10	.|0.87932	.|D	.|0	-4.4728|-4.4728	7.0986|7.0986	0.25323|0.25323	0.2124:0.0:0.7876:0.0|0.2124:0.0:0.7876:0.0	.|.	.|85;85;75;85;85	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	L|C	11|85	.|ENSP00000363869:R85C;ENSP00000411581:R85C;ENSP00000394143:R85C	.|ENSP00000363869:R85C	P|R	-|-	2|1	0|0	VSIG4|VSIG4	65170200|65170200	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.007000|0.007000	0.05969|0.05969	1.436000|1.436000	0.34980|0.34980	0.344000|0.344000	0.23847|0.23847	-0.896000|-0.896000	0.02909|0.02909	CCG|CGC		0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		17	59	0	0	0	1	0	17	59				
TRPV6	55503	broad.mit.edu	37	7	142575445	142575445	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:142575445G>A	ENST00000359396.3	-	3	553	c.308C>T	c.(307-309)cCg>cTg	p.P103L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	103	Interaction with calmodulin. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GACCAGCTCCGGGGCAGCCTC	0.577																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(307-309)cCg>cTg		transient receptor potential cation channel, subfamily V, member 6							80.0	82.0	82.0					7																	142575445		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575445G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.308C>T	7.37:g.142575445G>A	ENSP00000352358:p.Pro103Leu					RP11-114L10.2_ENST00000438839.1_RNA	p.P103L	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			3	553	-	Melanoma(164;0.059)		103			Interaction with calmodulin (By similarity).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.308C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902792	0.92035	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	T;T	0.64438	-0.1;0.56	4.86	4.86	0.63082	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77539	-0.2550	10	0.87932	D	0	-28.5921	16.9932	0.86359	0.0:0.0:1.0:0.0	.	103	Q9H1D0	TRPV6_HUMAN	L	103;30	ENSP00000352358:P103L;ENSP00000415917:P30L	ENSP00000352358:P103L	P	-	2	0	TRPV6	142285567	1.000000	0.71417	0.951000	0.38953	0.965000	0.64279	9.189000	0.94928	2.240000	0.73641	0.655000	0.94253	CCG		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		11	168	0	0	0	1	0	11	168				
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr21:11058330G>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							72.0	55.0	60.0					21																	11058330		692	1591	2283			85319							g.chr21:11058330G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058330G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	143	0	0	0	1	0	7	143				
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)	CGGAACATCTCGAAGCGCTCA	0.537		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)	ENST00000269305.4		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"""		31	Substitution - Nonsense(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)	p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1)	upper_aerodigestive_tract(5)|breast(5)|liver(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|stomach(1)|oesophagus(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM984588	TP53	M	rs17882252	c.(1015-1017)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							59.0	46.0	51.0					17																	7574012		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7574012C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1015G>T	17.37:g.7574012C>A	ENSP00000269305:p.Glu339*	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_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR	p.E339*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	339		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1015G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547605	0.96488	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.44	0.53790	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.4901	10.1064	0.42535	0.0:0.8944:0.0:0.1056	.	.	.	.	X	339;339;328	.	ENSP00000269305:E339X	E	-	1	0	TP53	7514737	0.991000	0.36638	0.794000	0.32065	0.424000	0.31475	2.924000	0.48876	1.194000	0.43101	0.561000	0.74099	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	40	1	0	7.03913e-09	1	7.83903e-09	9	40				
TNFRSF9	3604	broad.mit.edu	37	1	7998823	7998823	+	Missense_Mutation	SNP	C	C	T	rs9657963	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:7998823C>T	ENST00000377507.3	-	3	332	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	56			A -> T (in dbSNP:rs9657963). {ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACCTGCGCTGGAGAAA	0.408													C|||	8	0.00159744	0.0	0.0043	5008	,	,		18680	0.0		0.003	False		,,,				2504	0.002					ENST00000377507.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(166-168)Gca>Aca		tumor necrosis factor receptor superfamily, member 9		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	184.0	180.0	182.0		166	3.1	0.0	1	dbSNP_119	182	37,8563	25.1+/-72.6	0,37,4263	yes	missense	TNFRSF9	NM_001561.5	58	0,39,6464	TT,TC,CC		0.4302,0.0454,0.2999	benign	56/256	7998823	39,12967	2203	4300	6503	SO:0001583	missense	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7998823C>T	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.166G>A	1.37:g.7998823C>T	ENSP00000366729:p.Ala56Thr						p.A56T	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	3	332	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	56		A -> T (in dbSNP:rs9657963).				Missense_Mutation	SNP	ENST00000377507.3	37	c.166G>A	CCDS92.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	0.012	-1.663242	0.00772	4.54E-4	0.004302	ENSG00000049249	ENST00000377507	T	0.06142	3.34	5.39	3.06	0.35304	TNFR/CD27/30/40/95 cysteine-rich region (3);	1.492440	0.04145	N	0.320357	T	0.02929	0.0087	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	10	0.17832	T	0.49	1.4177	6.1629	0.20373	0.0:0.2271:0.0:0.7729	rs9657963;rs9657963	56	Q07011	TNR9_HUMAN	T	56	ENSP00000366729:A56T	ENSP00000366729:A56T	A	-	1	0	TNFRSF9	7921410	0.439000	0.25610	0.034000	0.17996	0.005000	0.04900	1.359000	0.34113	0.441000	0.26529	-0.471000	0.05019	GCA		0.408	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			16	132	0	0	0	1	0	16	132				
PADI3	51702	broad.mit.edu	37	1	17586174	17586174	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:17586174C>A	ENST00000375460.3	+	2	234	c.194C>A	c.(193-195)aCc>aAc	p.T65N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	65					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGTGCAGACACCAGGCGGTGG	0.592																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(193-195)aCc>aAc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						76.0	69.0	71.0					1																	17586174		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17586174C>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.194C>A	1.37:g.17586174C>A	ENSP00000364609:p.Thr65Asn						p.T65N	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	2	234	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	65					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.194C>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	2.251	-0.371463	0.05034	.	.	ENSG00000142619	ENST00000375460	T	0.09911	2.93	5.2	-0.574	0.11738	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.729580	0.13560	N	0.378888	T	0.08670	0.0215	L	0.29908	0.895	0.09310	N	1	P	0.51933	0.949	P	0.51101	0.659	T	0.19582	-1.0301	10	0.23302	T	0.38	-13.2108	1.0764	0.01633	0.2839:0.2729:0.2773:0.1659	.	65	Q9ULW8	PADI3_HUMAN	N	65	ENSP00000364609:T65N	ENSP00000364609:T65N	T	+	2	0	PADI3	17458761	0.231000	0.23751	0.058000	0.19502	0.132000	0.20833	0.286000	0.18902	-0.068000	0.12953	-0.311000	0.09066	ACC		0.592	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			4	58	1	0	0.014758	1	0.0157205	4	58				
CCDC22	28952	broad.mit.edu	37	X	49105641	49105641	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:49105641C>T	ENST00000376227.3	+	14	1723	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	518										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TTGTCTGATACGAAGGAGCTT	0.577																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(1552-1554)aCg>aTg		coiled-coil domain containing 22							64.0	53.0	57.0					X																	49105641		2203	4299	6502	SO:0001583	missense	28952							g.chrX:49105641C>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1553C>T	X.37:g.49105641C>T	ENSP00000365401:p.Thr518Met						p.T518M	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			14	1723	+			518					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.1553C>T	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254536	0.80135	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82647	-0.0354	9	0.56958	D	0.05	-12.0865	16.6187	0.84924	0.0:1.0:0.0:0.0	.	518	O60826	CCD22_HUMAN	M	518	.	ENSP00000365401:T518M	T	+	2	0	CCDC22	48992585	1.000000	0.71417	0.835000	0.33067	0.840000	0.47671	5.328000	0.65887	2.181000	0.69327	0.436000	0.28706	ACG		0.577	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		6	29	0	0	0	1	0	6	29				
CNTLN	54875	broad.mit.edu	37	9	17236520	17236520	+	Silent	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:17236520G>A	ENST00000380647.3	+	5	867	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CNTLN_ENST00000425824.1_Silent_p.L261L|CNTLN_ENST00000262360.5_Silent_p.L261L|CNTLN_ENST00000380641.4_Silent_p.L261L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	261					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAATGACCTGGAGAAATTGA	0.368																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(781-783)ctG>ctA		centlein, centrosomal protein							102.0	102.0	102.0					9																	17236520		1840	4089	5929	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17236520G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.783G>A	9.37:g.17236520G>A						CNTLN_ENST00000380641.4_Silent_p.L261L|CNTLN_ENST00000425824.1_Silent_p.L261L|CNTLN_ENST00000262360.5_Silent_p.L261L	p.L261L			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	5	867	+			261					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.783G>A	CCDS43789.1																																																																																				0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		9	44	0	0	0	1	0	9	44				
ATRX	546	broad.mit.edu	37	X	76845302	76845302	+	Splice_Site	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76845302A>G	ENST00000373344.5	-	27	6432		c.e27+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						TTTGTAGCTCACCTTTATAAA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e27+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						46.0	45.0	45.0					X																	76845302		2203	4292	6495	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:76845302A>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.6217+1T>C	X.37:g.76845302A>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			27	6432	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231469	0.79688	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9752	0.64268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76731958	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	8.817000	0.91985	1.762000	0.52044	0.425000	0.28330	.		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	3	8	0	0	0	1	0	3	8				
TLR4	7099	broad.mit.edu	37	9	120475609	120475609	+	Silent	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:120475609A>G	ENST00000355622.6	+	3	1304	c.1203A>G	c.(1201-1203)ctA>ctG	p.L401L	TLR4_ENST00000394487.4_Silent_p.L361L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	401					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CAACCAGCCTAAAGTATTTAG	0.388																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1201-1203)ctA>ctG		toll-like receptor 4							55.0	57.0	56.0					9																	120475609		2203	4299	6502	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475609A>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1203A>G	9.37:g.120475609A>G						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L361L	p.L401L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1304	+			401					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1203A>G	CCDS6818.1																																																																																				0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		3	19	0	0	0	1	0	3	19				
FERMT3	83706	broad.mit.edu	37	11	63988497	63988497	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:63988497C>T	ENST00000279227.5	+	13	1662	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	FERMT3_ENST00000345728.5_Missense_Mutation_p.R519W	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	523	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTCACCCCACGGATCCTGGA	0.652																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1567-1569)Cgg>Tgg		fermitin family member 3							96.0	83.0	87.0					11																	63988497		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63988497C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1567C>T	11.37:g.63988497C>T	ENSP00000279227:p.Arg523Trp					FERMT3_ENST00000345728.5_Missense_Mutation_p.R519W	p.R523W	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			13	1662	+			523			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1567C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022146	0.54576	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	D;D	0.81739	-1.53;-1.53	4.29	1.16	0.20824	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87375	0.2353	10	0.87932	D	0	-41.2461	12.8765	0.57994	0.3055:0.6945:0.0:0.0	.	519;523	Q86UX7-2;Q86UX7	.;URP2_HUMAN	W	519;523	ENSP00000339950:R519W;ENSP00000279227:R523W	ENSP00000279227:R523W	R	+	1	2	FERMT3	63745073	0.959000	0.32827	0.466000	0.27168	0.472000	0.32918	2.235000	0.43044	0.134000	0.18681	0.462000	0.41574	CGG		0.652	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		7	104	0	0	0	1	0	7	104				
PRG4	10216	broad.mit.edu	37	1	186276306	186276306	+	Silent	SNP	T	T	C	rs78867190	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:186276306T>C	ENST00000445192.2	+	7	1500	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	PRG4_ENST00000367486.3_Silent_p.T442T|PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T444T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	485	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T485T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACTGCCCCCAAGA	0.652													-|||	47	0.00938498	0.0348	0.0	5008	,	,		8279	0.0		0.0	False		,,,				2504	0.001					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T485T(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1453-1455)acT>acC		proteoglycan 4							98.0	105.0	103.0					1																	186276306		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276306T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1455T>C	1.37:g.186276306T>C						PRG4_ENST00000367486.3_Silent_p.T442T|PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367483.4_Silent_p.T444T|PRG4_ENST00000367484.3_Intron	p.T485T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1500	+			485			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1455T>C	CCDS1369.1																																																																																				0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	93	0	0	0	1	0	5	93				
RPL37A	6168	broad.mit.edu	37	2	217364056	217364056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217364056C>T	ENST00000491306.1	+	2	753	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RPL37A_ENST00000446558.1_Missense_Mutation_p.R23W|AC098820.3_ENST00000453157.1_RNA|AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000441179.2_5'UTR|RPL37A_ENST00000598925.1_5'UTR|RPL37A_ENST00000600880.1_Missense_Mutation_p.R23W|RPL37A_ENST00000427280.2_5'UTR|RPL37A_ENST00000456586.1_5'UTR	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCCCTCCGGAAAATGGT	0.502																																						ENST00000491306.1																			0				NS(1)|ovary(1)	2						c.(67-69)Cgg>Tgg		ribosomal protein L37a							52.0	57.0	56.0					2																	217364056		2203	4300	6503	SO:0001583	missense	6168				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome	g.chr2:217364056C>T		CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"""L ribosomal proteins"""	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.67C>T	2.37:g.217364056C>T	ENSP00000418082:p.Arg23Trp					RPL37A_ENST00000600880.1_Missense_Mutation_p.R23W|RPL37A_ENST00000446558.1_Missense_Mutation_p.R23W|RPL37A_ENST00000427280.2_5'UTR|RPL37A_ENST00000598925.1_5'UTR|RPL37A_ENST00000441179.2_5'UTR|RPL37A_ENST00000456586.1_5'UTR	p.R23W	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	753	+		Renal(323;0.0458)	23					P12751|Q6FGF5	Missense_Mutation	SNP	ENST00000491306.1	37	c.67C>T	CCDS2404.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354961	0.61293	.	.	ENSG00000197756	ENST00000491306;ENST00000446558	.	.	.	5.1	1.72	0.24424	Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.000000	0.53938	U	0.000047	T	0.57636	0.2067	.	.	.	0.80722	D	1	B;B	0.27932	0.194;0.008	B;B	0.33890	0.172;0.007	T	0.55405	-0.8146	8	0.52906	T	0.07	.	12.9871	0.58598	0.3979:0.6021:0.0:0.0	.	23;23	Q6P4E4;P61513	.;RL37A_HUMAN	W	23	.	ENSP00000410080:R23W	R	+	1	2	RPL37A	217072301	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.084000	0.50143	0.075000	0.16796	0.655000	0.94253	CGG		0.502	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998		7	77	0	0	0	1	0	7	77				
ADAMTS9	56999	broad.mit.edu	37	3	64526873	64526873	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr3:64526873C>T	ENST00000498707.1	-	36	5761	c.5419G>A	c.(5419-5421)Ggg>Agg	p.G1807R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1779R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1807	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGCCGGCTCCCGTTATAGGGA	0.473																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5419-5421)Ggg>Agg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							75.0	79.0	78.0					3																	64526873		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526873C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5419G>A	3.37:g.64526873C>T	ENSP00000418735:p.Gly1807Arg					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1779R	p.G1807R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5761	-		Lung NSC(201;0.00682)	1807			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5419G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157319	0.78114	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.20738	2.05;2.05	5.73	5.73	0.89815	Peptidase M12B, GON-ADAMTSs (2);	0.059630	0.64402	D	0.000003	T	0.55545	0.1927	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61417	-0.7067	10	0.87932	D	0	.	19.9036	0.96999	0.0:1.0:0.0:0.0	.	1779;1807	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	R	1779;1807	ENSP00000295903:G1779R;ENSP00000418735:G1807R	ENSP00000295903:G1779R	G	-	1	0	ADAMTS9	64501913	1.000000	0.71417	0.981000	0.43875	0.439000	0.31926	5.305000	0.65750	2.706000	0.92434	0.655000	0.94253	GGG		0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			21	101	0	0	0	1	0	21	101				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P717L(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2298	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	91	0	0	0	1	0	4	91				
CFAP97	57587	broad.mit.edu	37	4	186085257	186085257	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr4:186085257C>A	ENST00000458385.2	-	4	1516	c.1397G>T	c.(1396-1398)cGc>cTc	p.R466L		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		466										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GCCCATATTGCGATGATAGTC	0.383																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1396-1398)cGc>cTc		KIAA1430							164.0	157.0	159.0					4																	186085257		1904	4128	6032	SO:0001583	missense	57587							g.chr4:186085257C>A																												ENST00000458385.2:c.1397G>T	4.37:g.186085257C>A	ENSP00000409964:p.Arg466Leu						p.R466L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	4	1516	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	466					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.1397G>T	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683877	0.88639	.	.	ENSG00000164323	ENST00000458385	T	0.40476	1.03	5.48	5.48	0.80851	.	.	.	.	.	T	0.54615	0.1869	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56619	-0.7949	9	0.72032	D	0.01	-4.1902	17.4901	0.87701	0.0:1.0:0.0:0.0	.	466	Q9P2B7	K1430_HUMAN	L	466	ENSP00000409964:R466L	ENSP00000409964:R466L	R	-	2	0	KIAA1430	186322251	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	5.277000	0.65586	2.724000	0.93272	0.655000	0.94253	CGC		0.383	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			3	64	1	0	1	1	1	3	64				
LILRA1	11024	broad.mit.edu	37	19	55112237	55112237	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:55112237C>T	ENST00000251372.3	+	10	1607	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	LILRA1_ENST00000453777.1_Silent_p.L275L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	475					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTGGTCCTCGGGATTCTGC	0.562																																						ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(823-825)ctC>ctT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							108.0	95.0	100.0					19																	55112237		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55112237C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1425C>T	19.37:g.55112237C>T						LILRA1_ENST00000251372.3_Silent_p.L475L|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	p.L275L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	8	995	+			475			Ig-like C2-type 3.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.825C>T	CCDS12901.1																																																																																				0.562	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		6	69	0	0	0	1	0	6	69				
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-	rs541688197	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2230-2235)cag>ca		sine oculis binding protein homolog (Drosophila)																																				SO:0001651	inframe_deletion	55084						metal ion binding	g.chr6:107956280_107956282delGCC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2232_2234delGCC	6.37:g.107956289_107956291delGCC	ENSP00000318900:p.Pro751del					SOBP_ENST00000494935.1_3'UTR	p.QP744del	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2891_2893	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	744			Pro-rich.			In_Frame_Del	DEL	ENST00000317357.5	37	c.2232_2234delGCC	CCDS43488.1																																																																																				0.749	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		3	5						3	5	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1.0			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	105						8	105	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57565437	57565438	+	Frame_Shift_Ins	INS	-	-	TTGAC			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr15:57565437_57565438insTTGAC	ENST00000267811.5	+	18	2187_2188	c.1883_1884insTTGAC	c.(1882-1887)cttagtfs	p.S629fs	TCF12_ENST00000559710.1_Frame_Shift_Ins_p.S263fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.S459fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.S286fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.S649fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.S629fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.S483fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.S393fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	629	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCATCCTTAGTCTAGAAC	0.441			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1882-1884)cagfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565437_57565438insTTGAC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	Exception_encountered	15.37:g.57565437_57565438insTTGAC	ENSP00000267811:p.Ser629fs					TCF12_ENST00000557843.1_Frame_Shift_Ins_p.Q628fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.Q458fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.Q482fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.Q652fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.Q648fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.Q392fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.Q262fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.Q652fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.Q285fs	p.Q628fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2187_2188	+		Colorectal(260;0.0907)	628			Helix-loop-helix motif.		Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.1883_1884insTTGAC	CCDS10159.1																																																																																				0.441	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		9	51						9	51	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437288	437288	+	5'Flank	DEL	A	A	-	rs137908843		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr16:437288delA	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						ttgtcaccataaaaaaaaaaa	0.423																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:437288delA	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437288delA	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.423	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		2	4						2	4	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36861701	36861703	+	5'Flank	DEL	GAG	GAG	-			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:36861701_36861703delGAG	ENST00000325718.7	+	0	0				CTB-58E17.1_ENST00000563897.1_lincRNA|CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_5'Flank	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGAGCGAGCgaggaggaggagg	0.734			T	MLL	AL																																	ENST00000583409.1				Dom	yes		17	17q21	4302		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L					0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:36861701_36861703delGAG		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498		17.37:g.36861710_36861712delGAG	Exception_encountered													0	208	-								Q59F28|Q96IU3|Q9H5F6|Q9UF49	RNA	DEL	ENST00000325718.7	37		CCDS11327.1																																																																																				0.734	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		3	4						3	4	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			2	4						2	4	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		7	133						7	133	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76890105	76890106	+	Frame_Shift_Ins	INS	-	-	CATA			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76890105_76890106insCATA	ENST00000373344.5	-	17	5002_5003	c.4788_4789insTATG	c.(4786-4791)atgggcfs	p.MG1596fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.MG1558fs|ATRX_ENST00000480283.1_De_novo_Start_InFrame	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1596	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTACCAAGGCCCATACAGTGGG	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000480283.1				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								alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_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:76890105_76890106insCATA	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.4785_4788dupTATG	X.37:g.76890106_76890109dupCATA	ENSP00000362441:p.Met1596fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.MP1558fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.MP1596fs				P46100	ATRX_HUMAN			0	5125_5126	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Translation_Start_Site	INS	ENST00000373344.5	37		CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	61						16	61	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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						TACGCTTATCCTTTTTTCTCAC	0.356			"""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.(2092-2094)agafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_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:76938654_76938655insT	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.2094dupA	X.37:g.76938660_76938660dupT	ENSP00000362441:p.Lys698fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R660fs|ATRX_ENST00000480283.1_5'UTR	p.R698fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2307_2308	-			698					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.2093_2094insA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	64						9	64	---	---	---	---
