#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
CES3	23491	broad.mit.edu	37	16	66997082	66997082	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:66997082G>A	ENST00000303334.4	+	2	154	c.83G>A	c.(82-84)gGg>gAg	p.G28E	CES3_ENST00000394037.1_Splice_Site_p.G28E|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	28						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTTCCCTCAGGGCCCGAAGTT	0.587																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.e2-1		carboxylesterase 3							53.0	51.0	52.0					16																	66997082		2200	4300	6500	SO:0001630	splice_region_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66997082G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.83-1G>A	16.37:g.66997082G>A						CES3_ENST00000394037.1_Splice_Site_p.G28_splice|RP11-361L15.4_ENST00000566869.1_RNA	p.G28_splice	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	2	154	+		Ovarian(137;0.0563)	28					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Splice_Site	SNP	ENST00000303334.4	37	c.82_splice	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310820	0.23821	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.65916	-0.18;-0.18	4.35	2.29	0.28610	Carboxylesterase, type B (1);	1.184890	0.06438	N	0.725471	T	0.62134	0.2403	M	0.72353	2.195	0.19575	N	0.999969	B	0.33477	0.413	B	0.36186	0.219	T	0.50816	-0.8783	9	.	.	.	.	6.5836	0.22609	0.2491:0.0:0.7509:0.0	.	28	Q6UWW8	EST3_HUMAN	E	28	ENSP00000304782:G28E;ENSP00000377602:G28E	.	G	+	2	0	CES3	65554583	0.700000	0.27796	0.106000	0.21319	0.171000	0.22731	0.810000	0.27183	0.474000	0.27392	0.655000	0.94253	GGG		0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922	Missense_Mutation	10	48	0	0	0	1	0	10	48				
CFAP44	55779	broad.mit.edu	37	3	113082076	113082076	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:113082076C>T	ENST00000295868.2	-	21	3012	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E	WDR52_ENST00000393845.2_Silent_p.E950E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTGATTTGCTCTCTCTTCC	0.318																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2848-2850)gaG>gaA		WD repeat domain 52							105.0	110.0	108.0					3																	113082076		2203	4300	6503	SO:0001819	synonymous_variant	55779							g.chr3:113082076C>T																												ENST00000295868.2:c.2850G>A	3.37:g.113082076C>T						WDR52_ENST00000295868.2_Silent_p.E950E	p.E950E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			21	2916	-			950						Silent	SNP	ENST00000295868.2	37	c.2850G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138967	0.01742	.	.	ENSG00000206530	ENST00000465636	.	.	.	6.16	-0.906	0.10524	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.51233	D	0.999918	.	.	.	.	.	.	T	0.55055	-0.8200	4	.	.	.	-12.1594	11.4396	0.50090	0.0:0.4259:0.0:0.5741	.	.	.	.	T	87	.	.	A	-	1	0	WDR52	114564766	0.330000	0.24705	0.104000	0.21259	0.209000	0.24338	0.125000	0.15749	-0.049000	0.13379	-0.157000	0.13467	GCA		0.318	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			27	154	0	0	0	1	0	27	154				
ICOS	29851	broad.mit.edu	37	2	204821450	204821450	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:204821450A>G	ENST00000316386.6	+	3	530	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	155					immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						TGTAGTCTGCATTTTGGGATG	0.373																																						ENST00000316386.6																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(463-465)Att>Gtt		inducible T-cell co-stimulator							173.0	146.0	155.0					2																	204821450		2203	4300	6503	SO:0001583	missense	29851				immune response|T cell costimulation	extracellular region		g.chr2:204821450A>G	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.463A>G	2.37:g.204821450A>G	ENSP00000319476:p.Ile155Val					ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN			3	530	+			155					Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	c.463A>G	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	A	0.487	-0.876972	0.02550	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	.	.	.	4.61	-8.23	0.01033	.	1.382140	0.04658	N	0.408286	T	0.16727	0.0402	L	0.35723	1.085	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.34254	-0.9836	9	0.06099	T	0.92	-8.527	0.4947	0.00570	0.2184:0.2479:0.2808:0.2529	.	155;155;155	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	V	155	.	ENSP00000319476:I155V	I	+	1	0	ICOS	204529695	0.016000	0.18221	0.000000	0.03702	0.006000	0.05464	0.154000	0.16343	-1.089000	0.03073	-0.408000	0.06270	ATT		0.373	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		15	206	0	0	0	1	0	15	206				
MTERF3	51001	broad.mit.edu	37	8	97270778	97270778	+	Silent	SNP	T	T	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:97270778T>G	ENST00000287025.3	-	2	239	c.141A>C	c.(139-141)atA>atC	p.I47I	MTERFD1_ENST00000523821.1_Silent_p.I47I|MTERFD1_ENST00000522822.1_5'Flank|MTERFD1_ENST00000524341.1_5'Flank	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		47					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTCAGAGGATATCTGAGGCT	0.428																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(139-141)atA>atC		MTERF domain containing 1							150.0	147.0	148.0					8																	97270778		2203	4300	6503	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97270778T>G																												ENST00000287025.3:c.141A>C	8.37:g.97270778T>G						MTERFD1_ENST00000287025.3_Silent_p.I47I	p.I47I			Q96E29	MTER1_HUMAN			2	260	-	Breast(36;5.16e-05)		47					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.141A>C	CCDS6270.1																																																																																				0.428	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			4	189	0	0	0	1	0	4	189				
PTH1R	5745	broad.mit.edu	37	3	46940298	46940298	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:46940298G>A	ENST00000313049.5	+	7	988	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PTH1R_ENST00000449590.1_Missense_Mutation_p.R262H|PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	262					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GAGGAGCTGCGCGCCATCGCC	0.716																																						ENST00000449590.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(784-786)cGc>cAc		parathyroid hormone 1 receptor							17.0	15.0	16.0					3																	46940298		2201	4295	6496	SO:0001583	missense	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46940298G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.785G>A	3.37:g.46940298G>A	ENSP00000321999:p.Arg262His					PTH1R_ENST00000313049.5_Missense_Mutation_p.R262H|PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H	p.R262H	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN			9	988	+			262					Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.785G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758210	0.49468	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.71	2.75	0.32379	GPCR, family 2-like (1);	.	.	.	.	T	0.25382	0.0617	N	0.11201	0.11	0.27300	N	0.957602	B	0.02656	0.0	B	0.10450	0.005	T	0.15321	-1.0441	9	0.33940	T	0.23	.	5.0834	0.14668	0.5968:0.0:0.4032:0.0	.	262	Q03431	PTH1R_HUMAN	H	262;262;262;262;262;460	ENSP00000402723:R262H;ENSP00000411424:R262H;ENSP00000400977:R262H;ENSP00000413774:R262H;ENSP00000321999:R262H	ENSP00000321999:R262H	R	+	2	0	PTH1R	46915302	0.230000	0.23740	0.941000	0.38009	0.946000	0.59487	1.159000	0.31749	0.832000	0.34804	0.561000	0.74099	CGC		0.716	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		3	15	0	0	0	1	0	3	15				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	119	0	0	0	1	0	5	119				
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	A	rs547891650		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:248367166G>A	ENST00000456743.1	+	1	835	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(796-798)cGc>cAc		olfactory receptor, family 2, subfamily M, member 3							183.0	167.0	173.0					1																	248367166		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367166G>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.797G>A	1.37:g.248367166G>A	ENSP00000389625:p.Arg266His						p.R266H	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	835	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		266					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.797G>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.883692	0.00532	.	.	ENSG00000228198	ENST00000456743	T	0.00084	8.75	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	1.645920	0.04293	N	0.345971	T	0.00073	0.0002	N	0.02916	-0.46	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.30090	-0.9990	10	0.02654	T	1	.	8.4848	0.33065	0.6469:0.14:0.2131:0.0	.	266	Q8NG83	OR2M3_HUMAN	H	266	ENSP00000389625:R266H	ENSP00000389625:R266H	R	+	2	0	OR2M3	246433789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.615000	0.00208	-1.765000	0.01303	-2.234000	0.00290	CGC		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		88	172	0	0	0	1	0	88	172				
SYNRG	11276	broad.mit.edu	37	17	35896092	35896092	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:35896092C>T	ENST00000339208.6	-	19	3795	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1219					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGAGTGTGGCGAGTGACATG	0.443																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3655-3657)Gcc>Acc		synergin, gamma							183.0	156.0	166.0					17																	35896092		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35896092C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3655G>A	17.37:g.35896092C>T	ENSP00000343610:p.Ala1219Thr					SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T	p.A1219T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			19	3795	-			1219					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3655G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615682	0.46631	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.53857	1.41;0.6	5.64	4.66	0.58398	.	0.054916	0.64402	N	0.000001	T	0.48241	0.1489	M	0.61703	1.905	0.58432	D	0.999999	P;P;P;B;B;B	0.47962	0.559;0.684;0.903;0.046;0.375;0.375	B;B;B;B;B;B	0.36244	0.22;0.209;0.209;0.031;0.089;0.089	T	0.56402	-0.7985	10	0.52906	T	0.07	-5.9225	15.2714	0.73705	0.0:0.9316:0.0:0.0684	.	1013;1141;1141;1141;1219;1219	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	T	1219;1013;1219;1141;1141	ENSP00000005279:A1219T;ENSP00000377903:A1141T	ENSP00000343610:A1013T	A	-	1	0	SYNRG	32970205	1.000000	0.71417	0.944000	0.38274	0.456000	0.32438	4.860000	0.62961	1.495000	0.48549	0.650000	0.86243	GCC		0.443	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		12	68	0	0	0	1	0	12	68				
SSTR4	6754	broad.mit.edu	37	20	23017160	23017160	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:23017160A>G	ENST00000255008.3	+	1	1104	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	347					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGACTACTATGCCACTGCT	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(1039-1041)tAt>tGt		somatostatin receptor 4							39.0	44.0	42.0					20																	23017160		2150	4258	6408	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017160A>G		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1040A>G	20.37:g.23017160A>G	ENSP00000255008:p.Tyr347Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.Y347C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	1104	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		347					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1040A>G	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	A	3.860	-0.030010	0.07543	.	.	ENSG00000132671	ENST00000255008	T	0.65549	-0.16	3.65	1.18	0.20946	.	2.310920	0.02248	U	0.066348	T	0.51075	0.1653	L	0.31926	0.97	0.32872	D	0.509392	B	0.16396	0.017	B	0.12156	0.007	T	0.42498	-0.9448	10	0.46703	T	0.11	.	4.2591	0.10732	0.5829:0.2129:0.2042:0.0	.	347	P31391	SSR4_HUMAN	C	347	ENSP00000255008:Y347C	ENSP00000255008:Y347C	Y	+	2	0	SSTR4	22965160	0.614000	0.27017	0.712000	0.30502	0.514000	0.34195	0.235000	0.17948	-0.002000	0.14469	0.533000	0.62120	TAT		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			10	37	0	0	0	1	0	10	37				
TTN	7273	broad.mit.edu	37	2	179575583	179575583	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:179575583G>A	ENST00000591111.1	-	96	27514	c.27290C>T	c.(27289-27291)gCt>gTt	p.A9097V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9414V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V			Q8WZ42	TITIN_HUMAN	titin	13229	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAAGTCAGCACTTTCTCC	0.502																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(28240-28242)gCt>gTt		titin							101.0	98.0	99.0					2																	179575583		2014	4178	6192	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575583G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27290C>T	2.37:g.179575583G>A	ENSP00000465570:p.Ala9097Val					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9097V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V|TTN_ENST00000342175.6_Intron	p.A9414V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	28465	-			9097			Ig-like 77.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28241C>T		.	.	.	.	.	.	.	.	.	.	G	15.56	2.870638	0.51588	.	.	ENSG00000155657	ENST00000342992	T	0.38077	1.16	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24890	0.0604	N	0.11364	0.135	0.80722	D	1	B	0.20550	0.046	B	0.26310	0.068	T	0.07443	-1.0772	9	0.87932	D	0	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	9097	Q8WZ42	TITIN_HUMAN	V	8170	ENSP00000343764:A8170V	ENSP00000343764:A8170V	A	-	2	0	TTN	179283828	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.765000	0.47621	2.941000	0.99782	0.655000	0.94253	GCT		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	92	0	0	0	1	0	18	92				
LVRN	206338	broad.mit.edu	37	5	115327923	115327923	+	Silent	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:115327923A>G	ENST00000357872.4	+	5	1333	c.1209A>G	c.(1207-1209)acA>acG	p.T403T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		403						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										ATCAACTGACAGAAAAAAAGA	0.383																																						ENST00000357872.4																			0											c.(1207-1209)acA>acG									143.0	152.0	149.0					5																	115327923		2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327923A>G																												ENST00000357872.4:c.1209A>G	5.37:g.115327923A>G						AQPEP_ENST00000395528.2_5'UTR	p.T403T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			5	1333	+			403					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.1209A>G	CCDS4124.1																																																																																				0.383	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			8	191	0	0	0	1	0	8	191				
SLFN11	91607	broad.mit.edu	37	17	33689956	33689956	+	Missense_Mutation	SNP	G	G	A	rs114962374	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:33689956G>A	ENST00000394566.1	-	4	1143	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	291					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R291C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTATCGGGCGTTGGGGTTGG	0.423													G|||	16	0.00319489	0.0121	0.0	5008	,	,		20181	0.0		0.0	False		,,,				2504	0.0					ENST00000394566.1																			1	Substitution - Missense(1)	p.R291C(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(871-873)Cgc>Tgc		schlafen family member 11		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	34,4372	39.2+/-71.8	0,34,2169	198.0	198.0	198.0		871,871,871,871,871	-8.6	0.0	17	dbSNP_132	198	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	SLFN11	NM_001104587.1,NM_001104588.1,NM_001104589.1,NM_001104590.1,NM_152270.3	180,180,180,180,180	0,34,6469	AA,AG,GG		0.0,0.7717,0.2614	benign,benign,benign,benign,benign	291/902,291/902,291/902,291/902,291/902	33689956	34,12972	2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33689956G>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.871C>T	17.37:g.33689956G>A	ENSP00000378067:p.Arg291Cys					SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	p.R291C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1143	-		Ovarian(249;0.17)	291					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.871C>T	CCDS11294.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	6.455	0.452023	0.12283	0.007717	0.0	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.59638	0.25;0.25	4.32	-8.65	0.00870	.	6.153270	0.00550	N	0.000256	T	0.12305	0.0299	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13899	-1.0492	10	0.45353	T	0.12	.	1.855	0.03177	0.1698:0.2828:0.3442:0.2032	.	291	Q7Z7L1	SLN11_HUMAN	C	291	ENSP00000312402:R291C;ENSP00000378067:R291C	ENSP00000312402:R291C	R	-	1	0	SLFN11	30714069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.766000	0.00372	-1.793000	0.01258	-0.966000	0.02617	CGC		0.423	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		11	240	0	0	0	1	0	11	240				
ELMO2	63916	broad.mit.edu	37	20	45002149	45002149	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:45002149G>A	ENST00000290246.6	-	16	1499	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	ELMO2_ENST00000372176.1_Silent_p.H347H|ELMO2_ENST00000396391.1_Silent_p.H435H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000488853.1_5'Flank	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	435	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGAACATCGGGTGGTAGTCAT	0.498																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1039-1041)caC>caT		engulfment and cell motility 2							127.0	110.0	116.0					20																	45002149		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45002149G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1305C>T	20.37:g.45002149G>A						ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000290246.6_Silent_p.H435H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000396391.1_Silent_p.H435H	p.H347H			Q96JJ3	ELMO2_HUMAN			16	1509	-		Myeloproliferative disorder(115;0.0122)	435			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.1041C>T	CCDS13398.1																																																																																				0.498	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		10	41	0	0	0	1	0	10	41				
KCNB2	9312	broad.mit.edu	37	8	73848238	73848238	+	Silent	SNP	G	G	A	rs535772866		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P216P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATACGCTGCCGGAGCTGCAGG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19615	0.0		0.0	False		,,,				2504	0.0					ENST00000523207.1																			1	Substitution - coding silent(1)	p.P216P(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(646-648)ccG>ccA		potassium voltage-gated channel, Shab-related subfamily, member 2							197.0	184.0	188.0					8																	73848238		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848238G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.648G>A	8.37:g.73848238G>A							p.P216P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1236	+	Breast(64;0.137)		216					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.648G>A	CCDS6209.1																																																																																				0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	171	0	0	0	1	0	5	171				
PKIB	5570	broad.mit.edu	37	6	123038935	123038935	+	5'UTR	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:123038935T>C	ENST00000368448.1	+	0	623				PKIB_ENST00000368452.2_5'UTR|PKIB_ENST00000258014.3_Missense_Mutation_p.V6A|PKIB_ENST00000354275.2_5'UTR|PKIB_ENST00000368446.1_Missense_Mutation_p.V8A|PKIB_ENST00000392490.1_5'UTR|PKIB_ENST00000392491.2_5'UTR			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta								cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TTTGTAGATGTTGCTATGAGG	0.448																																						ENST00000258014.3																			0				large_intestine(3)|lung(1)	4						c.(16-18)gTt>gCt		protein kinase (cAMP-dependent, catalytic) inhibitor beta							111.0	107.0	108.0					6																	123038935		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0						cAMP-dependent protein kinase inhibitor activity	g.chr6:123038935T>C		CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.-5T>C	6.37:g.123038935T>C						PKIB_ENST00000368446.1_Missense_Mutation_p.V8A|PKIB_ENST00000392490.1_5'UTR|PKIB_ENST00000392491.2_5'UTR|PKIB_ENST00000354275.2_5'UTR|PKIB_ENST00000368452.2_5'UTR|PKIB_ENST00000368448.1_5'UTR	p.V6A	NM_001270395.1	NP_001257324.1	Q9C010	IPKB_HUMAN		GBM - Glioblastoma multiforme(226;0.164)	4	176	+			0					B2RCK2|Q567T9|Q5T0Z7	Missense_Mutation	SNP	ENST00000368448.1	37	c.17T>C	CCDS5126.1	.	.	.	.	.	.	.	.	.	.	T	8.140	0.784974	0.16189	.	.	ENSG00000135549	ENST00000258014;ENST00000368446	.	.	.	5.22	1.75	0.24633	.	0.857574	0.09923	N	0.738171	T	0.25158	0.0611	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.13229	-1.0517	8	0.31617	T	0.26	-5.3036	8.4319	0.32764	0.0:0.2267:0.0:0.7733	.	6	Q5T0Z7	.	A	6;8	.	ENSP00000258014:V6A	V	+	2	0	PKIB	123080634	1.000000	0.71417	0.995000	0.50966	0.259000	0.26198	1.059000	0.30517	0.158000	0.19367	0.533000	0.62120	GTT		0.448	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1			119	251	0	0	0	1	0	119	251				
APOB	338	broad.mit.edu	37	2	21229828	21229828	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:21229828C>T	ENST00000233242.1	-	26	10039	c.9912G>A	c.(9910-9912)ctG>ctA	p.L3304L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3304					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGACTGGCAGCTCTAATG	0.433																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9910-9912)ctG>ctA		apolipoprotein B	Atorvastatin(DB01076)						89.0	89.0	89.0					2																	21229828		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229828C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9912G>A	2.37:g.21229828C>T							p.L3304L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10039	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3304					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.9912G>A	CCDS1703.1																																																																																				0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	62	0	0	0	1	0	20	62				
SPDYC	387778	broad.mit.edu	37	11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A	rs370497227		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602																																						ENST00000377185.2																			2	Substitution - Missense(2)	p.A99T(2)	lung(1)|endometrium(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(295-297)Gcc>Acc		speedy/RINGO cell cycle regulator family member C							85.0	80.0	82.0					11																	64939753		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939753G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.295G>A	11.37:g.64939753G>A	ENSP00000366390:p.Ala99Thr						p.A99T	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			4	377	+			99			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.295G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033057	0.75504	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.75	2.89	0.33648	.	0.000000	0.44285	U	0.000463	T	0.48502	0.1503	M	0.74647	2.275	0.31283	N	0.690395	D	0.56521	0.976	P	0.45071	0.468	T	0.59600	-0.7424	9	0.62326	D	0.03	.	8.7449	0.34580	0.1807:0.0:0.8193:0.0	.	99	Q5MJ68	SPDYC_HUMAN	T	99	.	ENSP00000366390:A99T	A	+	1	0	SPDYC	64696329	1.000000	0.71417	0.004000	0.12327	0.821000	0.46438	7.724000	0.84798	0.626000	0.30322	0.655000	0.94253	GCC		0.602	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		12	113	0	0	0	1	0	12	113				
ZNF708	7562	broad.mit.edu	37	19	21492112	21492112	+	Silent	SNP	G	G	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:21492112G>C	ENST00000356929.3	-	3	359	c.162C>G	c.(160-162)acC>acG	p.T54T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCCAGACAGGTGATCAGGT	0.408																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(160-162)acC>acG		zinc finger protein 708							111.0	109.0	109.0					19																	21492112		2203	4300	6503	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21492112G>C	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.162C>G	19.37:g.21492112G>C							p.T54T	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			3	359	-			54			KRAB.		Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.162C>G	CCDS32980.1																																																																																				0.408	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		5	248	0	0	0	1	0	5	248				
SPINT1	6692	broad.mit.edu	37	15	41145414	41145414	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr15:41145414C>T	ENST00000344051.4	+	3	802	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CACAGATTGGCGCCTACTGCG	0.617																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(568-570)Cgc>Tgc		serine peptidase inhibitor, Kunitz type 1							131.0	125.0	127.0					15																	41145414		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145414C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.568C>T	15.37:g.41145414C>T	ENSP00000342098:p.Arg190Cys					SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C	p.R190C			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	3	802	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	190					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.568C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	8.158	0.788912	0.16258	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95518	-3.73;-3.73	4.81	2.94	0.34122	.	0.942915	0.09087	N	0.850471	D	0.90772	0.7103	L	0.27053	0.805	0.35711	D	0.816397	P;P;P	0.46327	0.876;0.71;0.66	B;B;B	0.42798	0.118;0.398;0.118	D	0.86884	0.2044	10	0.54805	T	0.06	-15.9852	4.2366	0.10628	0.1813:0.6285:0.0:0.1903	.	190;190;190	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	C	190;157;190	ENSP00000342098:R190C;ENSP00000409935:R190C	ENSP00000342098:R190C	R	+	1	0	SPINT1	38932706	0.446000	0.25665	0.636000	0.29352	0.039000	0.13416	0.543000	0.23237	0.633000	0.30452	0.561000	0.74099	CGC		0.617	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		5	84	0	0	0	1	0	5	84				
NWD1	284434	broad.mit.edu	37	19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A	rs574827018		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:16902242G>A	ENST00000552788.1	+	12	3022	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000524140.2_Missense_Mutation_p.V1008M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18845	0.0		0.0	False		,,,				2504	0.001					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3022-3024)Gtg>Atg		NACHT and WD repeat domain containing 1							103.0	92.0	96.0					19																	16902242		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902242G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3022G>A	19.37:g.16902242G>A	ENSP00000447224:p.Val1008Met					NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M	p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3440	+			1008					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	9.459	1.092560	0.20471	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.44083	1.48;0.93;1.48;3.41;3.41;3.41	5.44	-0.905	0.10527	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.392410	0.04551	N	0.389874	T	0.22859	0.0552	L	0.27053	0.805	0.09310	N	1	B;P;B	0.43578	0.338;0.811;0.338	B;B;B	0.30029	0.015;0.11;0.023	T	0.15521	-1.0434	10	0.39692	T	0.17	-4.4714	4.2802	0.10829	0.1393:0.113:0.6327:0.115	.	1008;1008;873	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	873;1008;1008;1008;802;1008;873	ENSP00000428579:V1008M;ENSP00000447548:V1008M;ENSP00000369136:V1008M;ENSP00000428955:V802M;ENSP00000447224:V1008M;ENSP00000340159:V873M	ENSP00000340159:V873M	V	+	1	0	NWD1	16763242	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.312000	0.19397	-0.554000	0.06150	-2.048000	0.00412	GTG		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	127	0	0	0	1	0	5	127				
MYO1B	4430	broad.mit.edu	37	2	192214945	192214945	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:192214945A>C	ENST00000392318.3	+	7	803	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	186	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGGAGTAATAAGTAACTGTGA	0.313																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(556-558)Agt>Cgt		myosin IB							88.0	92.0	91.0					2																	192214945		2203	4299	6502	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192214945A>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.556A>C	2.37:g.192214945A>C	ENSP00000376132:p.Ser186Arg					MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		7	803	+			186			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.556A>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746923	0.89663	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.54	5.54	0.83059	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.87873	0.6287	N	0.17800	0.525	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.70487	0.969;0.931	D	0.87339	0.2330	10	0.33141	T	0.24	.	15.6381	0.76970	1.0:0.0:0.0:0.0	.	186;186	O43795;O43795-2	MYO1B_HUMAN;.	R	186	ENSP00000341903:S186R;ENSP00000376132:S186R;ENSP00000306382:S186R;ENSP00000388140:S186R;ENSP00000376130:S186R	ENSP00000306382:S186R	S	+	1	0	MYO1B	191923190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.826000	0.75298	2.232000	0.73038	0.533000	0.62120	AGT		0.313	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		18	42	0	0	0	1	0	18	42				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			38	72	0	0	0	1	0	38	72				
ZNF454	285676	broad.mit.edu	37	5	178373365	178373365	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:178373365G>A	ENST00000320129.3	+	3	342	c.39G>A	c.(37-39)tcG>tcA	p.S13S	ZNF454_ENST00000519564.1_Silent_p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S13S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TGCAGGAATCGGTGACCTTCA	0.567																																						ENST00000320129.3																			1	Substitution - coding silent(1)	p.S13S(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(37-39)tcG>tcA		zinc finger protein 454							129.0	119.0	123.0					5																	178373365		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178373365G>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.39G>A	5.37:g.178373365G>A						ZNF454_ENST00000519564.1_Silent_p.S13S	p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	3	342	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	13					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.39G>A	CCDS4441.1																																																																																				0.567	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		27	73	0	0	0	1	0	27	73				
MUC17	140453	broad.mit.edu	37	7	100680279	100680279	+	Missense_Mutation	SNP	C	C	T	rs147735350		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:100680279C>T	ENST00000306151.4	+	3	5646	c.5582C>T	c.(5581-5583)aCg>aTg	p.T1861M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1861	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACCTCAACGCCTAGTGAA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5581-5583)aCg>aTg		mucin 17, cell surface associated		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	222.0	232.0	228.0		5582	0.8	0.0	7	dbSNP_134	228	0,8600		0,0,4300	no	missense	MUC17	NM_001040105.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1861/4494	100680279	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680279C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5582C>T	7.37:g.100680279C>T	ENSP00000302716:p.Thr1861Met						p.T1861M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5646	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1861			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5582C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.748	-0.260626	0.05791	2.27E-4	0.0	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.824	0.824	0.18818	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.49953	0.627	T	0.50030	-0.8875	9	0.49607	T	0.09	.	5.0939	0.14723	0.0:1.0:0.0:0.0	.	1861	Q685J3	MUC17_HUMAN	M	1861	ENSP00000302716:T1861M	ENSP00000302716:T1861M	T	+	2	0	MUC17	100466999	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.926000	0.28804	0.788000	0.33755	0.134000	0.15878	ACG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	425	0	0	0	1	0	6	425				
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282.0	295.0	291.0					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	480	0	0	0	1	0	6	480				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	16	0	0	0	1	0	4	16				
OTOP3	347741	broad.mit.edu	37	17	72943529	72943529	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:72943529C>A	ENST00000328801.4	+	6	1579	c.1579C>A	c.(1579-1581)Ctc>Atc	p.L527I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	527						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCGGAGGGCACTCAAGGAGAT	0.617																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1579-1581)Ctc>Atc		otopetrin 3							28.0	30.0	29.0					17																	72943529		2197	4288	6485	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943529C>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1579C>A	17.37:g.72943529C>A	ENSP00000328090:p.Leu527Ile						p.L527I	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			6	1579	+	all_lung(278;0.151)|Lung NSC(278;0.185)		527						Missense_Mutation	SNP	ENST00000328801.4	37	c.1579C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627848	0.46944	.	.	ENSG00000182938	ENST00000328801	T	0.21734	1.99	4.44	4.44	0.53790	.	0.100426	0.41823	D	0.000820	T	0.29652	0.0740	L	0.60845	1.875	0.34577	D	0.714037	D	0.54964	0.969	P	0.52309	0.695	T	0.44817	-0.9303	10	0.72032	D	0.01	-29.2004	8.6904	0.34262	0.0:0.7636:0.1525:0.0839	.	527	Q7RTS5	OTOP3_HUMAN	I	527	ENSP00000328090:L527I	ENSP00000328090:L527I	L	+	1	0	OTOP3	70455124	0.097000	0.21791	0.932000	0.37286	0.808000	0.45660	0.813000	0.27225	2.320000	0.78422	0.456000	0.33151	CTC		0.617	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		11	42	1	0	0.000151284	1	0.000156993	11	42				
TMPRSS11E	28983	broad.mit.edu	37	4	69334631	69334631	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:69334631A>G	ENST00000305363.4	+	4	357	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	98	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATTAAGGGAAGAATTTGTC	0.294																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(292-294)gAa>gGa		transmembrane protease, serine 11E							101.0	116.0	111.0					4																	69334631		2202	4291	6493	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69334631A>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.293A>G	4.37:g.69334631A>G	ENSP00000307519:p.Glu98Gly						p.E98G	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			4	357	+			98			SEA.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.293A>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	A	0.620	-0.821585	0.02755	.	.	ENSG00000087128	ENST00000305363	T	0.37915	1.17	6.02	-6.21	0.02065	SEA (2);	1.390520	0.04741	N	0.422809	T	0.18173	0.0436	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	10	0.15499	T	0.54	.	18.339	0.90298	0.1731:4.0E-4:0.8264:0.0	.	98	Q9UL52	TM11E_HUMAN	G	98	ENSP00000307519:E98G	ENSP00000307519:E98G	E	+	2	0	TMPRSS11E	69017226	0.007000	0.16637	0.000000	0.03702	0.051000	0.14879	-0.602000	0.05680	-1.348000	0.02205	-1.080000	0.02220	GAA		0.294	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		69	138	0	0	0	1	0	69	138				
RRP12	23223	broad.mit.edu	37	10	99160934	99160934	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:99160934T>C	ENST00000370992.4	-	1	166	c.55A>G	c.(55-57)Aag>Gag	p.K19E	RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	19						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCCTTTCTTCCAGCGCTTC	0.607																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(55-57)Aag>Gag		ribosomal RNA processing 12 homolog (S. cerevisiae)							55.0	51.0	52.0					10																	99160934		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99160934T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.55A>G	10.37:g.99160934T>C	ENSP00000360031:p.Lys19Glu					RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E|RP11-452K12.7_ENST00000422848.1_RNA	p.K19E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	1	166	-		Colorectal(252;0.162)	19					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.55A>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577848	0.65878	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.31510	1.54;1.5;1.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.72118	2.19	0.80722	D	1	D;D;P	0.61697	0.982;0.99;0.704	P;P;B	0.55087	0.591;0.768;0.231	T	0.41052	-0.9530	10	0.40728	T	0.16	-28.4164	11.3499	0.49581	0.0:0.0:0.1518:0.8482	.	19;19;19	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	E	19	ENSP00000360031:K19E;ENSP00000324315:K19E;ENSP00000414863:K19E	ENSP00000324315:K19E	K	-	1	0	RRP12	99150924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.715000	0.68430	2.145000	0.66743	0.455000	0.32223	AAG		0.607	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		27	56	0	0	0	1	0	27	56				
GMPR2	51292	broad.mit.edu	37	14	24707597	24707597	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr14:24707597C>T	ENST00000355299.4	+	9	1304	c.843C>T	c.(841-843)ggC>ggT	p.G281G	GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000557854.1_Silent_p.G299G|GMPR2_ENST00000456667.3_Silent_p.G253G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000420554.2_Silent_p.G299G	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	281					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ATGCTGGGGGCGTGGCTGAGT	0.507																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(895-897)ggC>ggT		guanosine monophosphate reductase 2							101.0	109.0	106.0					14																	24707597		2067	4205	6272	SO:0001819	synonymous_variant	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707597C>T		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.843C>T	14.37:g.24707597C>T						GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000420554.2_Silent_p.G299G|GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000456667.3_Silent_p.G253G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000355299.4_Silent_p.G281G	p.G299G			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	8	1174	+			281					D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	c.897C>T	CCDS41935.1																																																																																				0.507	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		11	85	0	0	0	1	0	11	85				
RPL39P5	553117	broad.mit.edu	37	3	134070869	134070869	+	lincRNA	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:134070869C>T	ENST00000568384.1	-	0	0				RPL39P5_ENST00000273411.2_RNA																							GGGAATGGGACGATTTTGCTT	0.433																																						ENST00000273411.2																			0																																																			0							g.chr3:134070869C>T																													3.37:g.134070869C>T														0	273	-									RNA	SNP	ENST00000568384.1	37																																																																																						0.433	RP11-375I20.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431114.1			6	107	0	0	0	1	0	6	107				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	60	0	0	0	1	0	4	60				
RMST	196475	broad.mit.edu	37	12	97885714	97885714	+	RNA	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr12:97885714T>C	ENST00000538559.2	+	0	953				MIR1251_ENST00000408552.2_RNA					rhabdomyosarcoma 2 associated transcript (non-protein coding)																		AAGGCGCTTCTCCTTCTGAAC	0.458																																						ENST00000538559.2																			0																				84.0	79.0	81.0					12																	97885714		1568	3582	5150			0							g.chr12:97885714T>C	AK056164		12q23.1	2012-10-16	2007-11-20		ENSG00000255794	ENSG00000255794		"""Long non-coding RNAs"""	29893	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 54"", ""long intergenic non-protein coding RNA 54"""	607045				12082533, 20062813	Standard	NR_024037		Approved	NCRMS, NCRNA00054, LINC00054	uc001tey.1		OTTHUMG00000170148		12.37:g.97885714T>C						MIR1251_ENST00000408552.2_RNA								0	953	+									RNA	SNP	ENST00000538559.2	37																																																																																						0.458	RMST-003	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000407671.1	NR_024037		29	20	0	0	0	1	0	29	20				
PMPCB	9512	broad.mit.edu	37	7	102949430	102949430	+	Missense_Mutation	SNP	C	C	T	rs142471700	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:102949430C>T	ENST00000249269.4	+	8	919	c.881C>T	c.(880-882)gCg>gTg	p.A294V	PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V|PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCCTTTGGCGCACCTTGCA	0.423																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(880-882)gCg>gTg		peptidase (mitochondrial processing) beta		C	VAL/ALA	0,4406		0,0,2203	157.0	133.0	141.0		881	5.3	1.0	7	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PMPCB	NM_004279.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	294/490	102949430	2,13004	2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102949430C>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.881C>T	7.37:g.102949430C>T	ENSP00000249269:p.Ala294Val					PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V|PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V	p.A294V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			8	919	+			294					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.881C>T	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264231	0.95399	0.0	2.33E-4	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.10288	2.89;2.89;2.89	5.35	5.35	0.76521	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.975;0.993;0.999;0.997;0.997;0.997;0.999	P;B;P;P;P;P;P	0.57101	0.544;0.386;0.813;0.694;0.694;0.694;0.692	T	0.00177	-1.1952	10	0.44086	T	0.13	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	189;189;294;294;285;294;294	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	V	294;294;189	ENSP00000249269:A294V;ENSP00000390035:A294V;ENSP00000410393:A189V	ENSP00000249269:A294V	A	+	2	0	PMPCB	102736666	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.769000	0.85360	2.656000	0.90262	0.650000	0.86243	GCG		0.423	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		4	126	0	0	0	1	0	4	126				
CTR9	9646	broad.mit.edu	37	11	10787958	10787958	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:10787958G>A	ENST00000361367.2	+	13	2033	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	536					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1606-1608)cGc>cAc		CTR9, Paf1/RNA polymerase II complex component							83.0	89.0	87.0					11																	10787958		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10787958G>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1607G>A	11.37:g.10787958G>A	ENSP00000355013:p.Arg536His						p.R536H	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	13	2033	+			536					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1607G>A	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289457	0.95517	.	.	ENSG00000198730	ENST00000361367	T	0.20738	2.05	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62586	-0.6823	10	0.66056	D	0.02	-11.0167	19.4253	0.94739	0.0:0.0:1.0:0.0	.	536	Q6PD62	CTR9_HUMAN	H	536	ENSP00000355013:R536H	ENSP00000355013:R536H	R	+	2	0	CTR9	10744534	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.839000	0.99476	2.688000	0.91661	0.650000	0.86243	CGC		0.308	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		19	64	0	0	0	1	0	19	64				
FSTL5	56884	broad.mit.edu	37	4	162680611	162680611	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:162680611A>G	ENST00000306100.5	-	6	1115	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	227	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCATTAAAATCATCATAT	0.338																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(679-681)Ttt>Ctt		follistatin-like 5							93.0	101.0	98.0					4																	162680611		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680611A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.679T>C	4.37:g.162680611A>G	ENSP00000305334:p.Phe227Leu					FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L	p.F227L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1115	-	all_hematologic(180;0.24)		227			EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.679T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918553	0.17982	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.37	2.87	0.33458	EF-hand-like domain (1);	0.632453	0.17063	N	0.188472	T	0.06096	0.0158	N	0.01134	-0.995	0.28860	N	0.895574	B;B;B	0.14438	0.01;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.35450	-0.9788	10	0.17832	T	0.49	.	7.3251	0.26551	0.7789:0.1451:0.076:0.0	.	226;226;227	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	227;226;226;226	ENSP00000305334:F227L;ENSP00000368462:F226L;ENSP00000389270:F226L;ENSP00000440409:F226L	ENSP00000305334:F227L	F	-	1	0	FSTL5	162900061	1.000000	0.71417	0.837000	0.33122	0.305000	0.27757	3.225000	0.51246	0.327000	0.23409	0.472000	0.43445	TTT		0.338	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		12	66	0	0	0	1	0	12	66				
C7orf26	79034	broad.mit.edu	37	7	6631413	6631413	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:6631413G>A	ENST00000344417.5	+	2	596	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	110										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATGACAGCCGGATGAGCTTG	0.507																																						ENST00000344417.5																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(328-330)cGg>cAg		chromosome 7 open reading frame 26							148.0	142.0	144.0					7																	6631413		2203	4300	6503	SO:0001583	missense	79034							g.chr7:6631413G>A	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.329G>A	7.37:g.6631413G>A	ENSP00000340220:p.Arg110Gln					C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	p.R110Q	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	2	596	+		Ovarian(82;0.232)	110					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.329G>A	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	g	35	5.488404	0.96323	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.59638	0.25;0.25	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.79359	-0.1836	10	0.72032	D	0.01	-28.4749	16.766	0.85524	0.0:0.0:1.0:0.0	.	91;110	Q96N11-2;Q96N11	.;CG026_HUMAN	Q	110;91	ENSP00000340220:R110Q;ENSP00000351974:R91Q	ENSP00000340220:R110Q	R	+	2	0	C7orf26	6597938	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.793000	0.99091	2.627000	0.88993	0.632000	0.83419	CGG		0.507	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		4	137	0	0	0	1	0	4	137				
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577572T>C	ENST00000269305.4	-	7	898	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000420246.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; 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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)	CTGTTACACATGTAGTTGTAG	0.572		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"""		36	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - compound substitution(1)	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)	haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|cervix(1)|stomach(1)|large_intestine(1)|lung(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						c.(709-711)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							128.0	101.0	110.0					17																	7577572		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577572T>C	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.709A>G	17.37:g.7577572T>C	ENSP00000269305:p.Met237Val	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_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	841	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.709A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111049	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.64997	1.995	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;0.989;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.91635	0.997;0.749;0.999;0.999;0.997;0.997	D	0.97551	1.0092	10	0.87932	D	0	-32.6033	11.6823	0.51466	0.0:0.0:0.0:1.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237V;ENSP00000352610:M237V;ENSP00000269305:M237V;ENSP00000398846:M237V;ENSP00000391127:M237V;ENSP00000391478:M237V;ENSP00000425104:M105V;ENSP00000423862:M144V	ENSP00000269305:M237V	M	-	1	0	TP53	7518297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	46	0	0	0	1	0	22	46				
NLRP5	126206	broad.mit.edu	37	19	56539876	56539876	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:56539876G>A	ENST00000390649.3	+	7	2276		c.e7+1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5						cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCTCTATGGTGAGTACCCC	0.527																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.e7+1		NLR family, pyrin domain containing 5							124.0	124.0	124.0					19																	56539876		2007	4182	6189	SO:0001630	splice_region_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539876G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2276+1G>A	19.37:g.56539876G>A								NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2276	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)						A8MTY4|Q86W29	Splice_Site	SNP	ENST00000390649.3	37		CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115533	0.20795	.	.	ENSG00000171487	ENST00000390649	.	.	.	2.98	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.678	0.40052	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP5	61231688	0.999000	0.42202	0.215000	0.23724	0.007000	0.05969	2.984000	0.49353	1.971000	0.57363	0.561000	0.74099	.		0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	Intron	5	170	0	0	0	1	0	5	170				
RAB3GAP2	25782	broad.mit.edu	37	1	220345393	220345393	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:220345393T>C	ENST00000358951.2	-	23	2533		c.e23-2			NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CGATGGCCACTATAGGGATAG	0.423																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.e23-2		RAB3 GTPase activating protein subunit 2 (non-catalytic)							41.0	41.0	41.0					1																	220345393		2203	4300	6503	SO:0001630	splice_region_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220345393T>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2417-2A>G	1.37:g.220345393T>C								NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	23	2533	-								A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Splice_Site	SNP	ENST00000358951.2	37		CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059301	0.76074	.	.	ENSG00000118873	ENST00000358951	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.59	0.76521	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB3GAP2	218412016	1.000000	0.71417	0.915000	0.36163	0.825000	0.46686	7.239000	0.78182	2.090000	0.63153	0.528000	0.53228	.		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	Intron	4	49	0	0	0	1	0	4	49				
ZNF77	58492	broad.mit.edu	37	19	2933587	2933587	+	Missense_Mutation	SNP	G	G	A	rs201394063		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:2933587G>A	ENST00000314531.4	-	4	1630	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTTCTCACGTG	0.502																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1537-1539)aCg>aTg		zinc finger protein 77		G	MET/THR	0,4406		0,0,2203	212.0	171.0	185.0		1538	-2.6	0.0	19		185	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF77	NM_021217.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	513/546	2933587	1,13005	2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933587G>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1538C>T	19.37:g.2933587G>A	ENSP00000319053:p.Thr513Met						p.T513M	NM_021217.2	NP_067040.1	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1630	-			513					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1538C>T	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110262	0.20714	0.0	1.16E-4	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.13089	2.62	2.56	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	M	0.72479	2.2	0.09310	N	1	B	0.28933	0.228	B	0.21151	0.033	T	0.20207	-1.0282	9	0.46703	T	0.11	.	7.6427	0.28303	0.7165:0.0:0.2835:0.0	.	513	Q15935	ZNF77_HUMAN	M	307;513	ENSP00000319053:T513M	ENSP00000319053:T513M	T	-	2	0	ZNF77	2884587	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-1.416000	0.02467	-0.356000	0.08187	-0.339000	0.08088	ACG		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		6	132	0	0	0	1	0	6	132				
TRIM5	85363	broad.mit.edu	37	11	5701232	5701232	+	Missense_Mutation	SNP	C	C	T	rs200209793		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:5701232C>T	ENST00000380034.3	-	2	432	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000305836.5_Missense_Mutation_p.R59Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000483835.1_5'Flank	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTAACTGATCCGGCACACAGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20847	0.001		0.0	False		,,,				2504	0.0					ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(175-177)cGg>cAg		tripartite motif containing 5							148.0	129.0	135.0					11																	5701232		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701232C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.176G>A	11.37:g.5701232C>T	ENSP00000369373:p.Arg59Gln					TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380034.3_Missense_Mutation_p.R59Q	p.R59Q			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	478	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	59					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.176G>A	CCDS31393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.37	1.617994	0.28801	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.07	2.21	0.28008	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.139418	0.33346	N	0.005016	D	0.88168	0.6364	M	0.72624	2.21	0.26830	N	0.96861	P;P;D	0.76494	0.729;0.923;0.999	B;B;D	0.63793	0.23;0.411;0.918	T	0.78600	-0.2141	10	0.25751	T	0.34	.	8.312	0.32077	0.0:0.8003:0.0:0.1997	.	59;59;59	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	Q	59	ENSP00000380064:R59Q;ENSP00000307031:R59Q;ENSP00000369373:R59Q;ENSP00000369366:R59Q;ENSP00000380058:R59Q;ENSP00000380062:R59Q;ENSP00000388031:R59Q;ENSP00000388150:R59Q	ENSP00000307031:R59Q	R	-	2	0	TRIM5	5657808	0.001000	0.12720	0.073000	0.20177	0.034000	0.12701	1.668000	0.37481	0.684000	0.31448	-0.142000	0.14014	CGG		0.547	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		4	86	0	0	0	1	0	4	86				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	8	0	0	0	1	0	4	8				
B3GALT5	10317	broad.mit.edu	37	21	41033275	41033275	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr21:41033275G>A	ENST00000380620.4	+	5	1381	c.789G>A	c.(787-789)caG>caA	p.Q263Q	B3GALT5_ENST00000398714.2_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q263Q|B3GALT5_ENST00000343118.4_Silent_p.Q263Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	263					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCACTCCCAGCCGACCTTTT	0.542																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(787-789)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							84.0	83.0	83.0					21																	41033275		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033275G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.789G>A	21.37:g.41033275G>A						B3GALT5_ENST00000380618.1_Silent_p.Q263Q|B3GALT5_ENST00000398714.2_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.Q263Q	p.Q263Q			Q9Y2C3	B3GT5_HUMAN			5	1381	+		Prostate(19;2.55e-06)	263					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.789G>A	CCDS13667.1																																																																																				0.542	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		8	128	0	0	0	1	0	8	128				
POM121L9P	29774	broad.mit.edu	37	22	24656904	24656904	+	RNA	SNP	C	C	T	rs201168540	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr22:24656904C>T	ENST00000414583.2	+	0	1977					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GCTGTTTCAACGCCACCACCA	0.602																																						ENST00000414583.2																			0																																																			0							g.chr22:24656904C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656904C>T								NR_003714.1						0	1977	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.602	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	18	0	0	0	1	0	3	18				
EEFSEC	60678	broad.mit.edu	37	3	128060266	128060266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:128060266delG	ENST00000254730.6	+	5	1031	c.977delG	c.(976-978)cggfs	p.R326fs	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	326					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.R326L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGTATTTCCGGGGGCCCCTG	0.557																																						ENST00000254730.6																			1	Substitution - Missense(1)	p.R326L(1)	lung(1)	NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(976-978)cgfs		eukaryotic elongation factor, selenocysteine-tRNA-specific							66.0	65.0	65.0					3																	128060266		2203	4300	6503	SO:0001589	frameshift_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060266delG		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.977delG	3.37:g.128060266delG	ENSP00000254730:p.Arg326fs					EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs|EEFSEC_ENST00000483569.1_3'UTR	p.R326fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			5	1031	+			326					Q96HZ6	Frame_Shift_Del	DEL	ENST00000254730.6	37	c.977delG	CCDS33849.1																																																																																				0.557	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		24	56						24	56	---	---	---	---
NREP	9315	broad.mit.edu	37	5	111091466	111091483	+	Start_Codon_Del	DEL	CCATTTTGAGAATCTTAG	CCATTTTGAGAATCTTAG	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:111091466_111091483delCCATTTTGAGAATCTTAG	ENST00000379671.3	-	0	251_268				NREP_ENST00000455559.2_Start_Codon_Del|NREP_ENST00000453526.2_Start_Codon_Del|NREP_ENST00000507742.1_Intron|NREP_ENST00000446294.2_Start_Codon_Del|NREP_ENST00000395634.3_Intron|NREP_ENST00000509979.1_Start_Codon_Del|NREP_ENST00000509427.1_Start_Codon_Del|NREP_ENST00000419114.2_Start_Codon_Del|NREP_ENST00000257435.7_Start_Codon_Del|NREP_ENST00000450761.2_Start_Codon_Del|NREP_ENST00000509025.1_Start_Codon_Del|NREP_ENST00000508870.1_Start_Codon_Del|NREP_ENST00000447165.2_Start_Codon_Del|NREP_ENST00000515855.1_Start_Codon_Del	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCAAGTCTTACCATTTTGAGAATCTTAGTCTTGGGCTT	0.431																																						ENST00000379671.3																			0													neuronal regeneration related protein																																				SO:0001582	initiator_codon_variant	9315					cytoplasm		g.chr5:111091466_111091483delCCATTTTGAGAATCTTAG	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795		5.37:g.111091466_111091483delCCATTTTGAGAATCTTAG						NREP_ENST00000509427.1_Start_Codon_Del|NREP_ENST00000450761.2_Start_Codon_Del|NREP_ENST00000455559.2_Start_Codon_Del|NREP_ENST00000507742.1_Intron|NREP_ENST00000419114.2_Start_Codon_Del|NREP_ENST00000446294.2_Start_Codon_Del|NREP_ENST00000395634.3_Intron|NREP_ENST00000508870.1_Start_Codon_Del|NREP_ENST00000515855.1_Start_Codon_Del|NREP_ENST00000509979.1_Start_Codon_Del|NREP_ENST00000509025.1_Start_Codon_Del|NREP_ENST00000453526.2_Start_Codon_Del|NREP_ENST00000447165.2_Start_Codon_Del|NREP_ENST00000257435.7_Start_Codon_Del		NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN			0	251_268	-								B2RDN8|B7Z5D2|D3DSZ8	Translation_Start_Site	DEL	ENST00000379671.3	37		CCDS4105.1																																																																																				0.431	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		42	143						42	143	---	---	---	---
FIBCD1	84929	broad.mit.edu	37	9	133779457	133779469	+	Frame_Shift_Del	DEL	GTCCTCCCGGACC	GTCCTCCCGGACC	-	rs377424705		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr9:133779457_133779469delGTCCTCCCGGACC	ENST00000372338.4	-	7	1610_1622	c.1368_1380delGGTCCGGGAGGAC	c.(1366-1380)ccggtccgggaggacfs	p.PVRED456fs	FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs|FIBCD1_ENST00000253018.4_Splice_Site_p.GS158fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	456	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGTCTAGCGGTCCTCCCGGACCGGCCGGATCT	0.643																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1366-1380)ccfs		fibrinogen C domain containing 1																																				SO:0001589	frameshift_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779457_133779469delGTCCTCCCGGACC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1368_1380delGGTCCGGGAGGAC	9.37:g.133779457_133779469delGTCCTCCCGGACC	ENSP00000361413:p.Pro456fs					FIBCD1_ENST00000253018.4_Splice_Site_p.A158_splice|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs	p.PVRED456fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1610_1622	-	all_hematologic(7;0.0028)		456			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Frame_Shift_Del	DEL	ENST00000372338.4	37	c.1368_1380delGGTCCGGGAGGAC	CCDS6937.1																																																																																				0.643	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		11	23						11	23	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-	rs200495212	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr13:25525716delA	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		TGGAAGAAACAAAAAAAAGAA	0.383													AAAAAAA|AAAAAAAA|AAAAAAA|insertion	774	0.154553	0.1256	0.1571	5008	,	,		14949	0.2123		0.162	False		,,,				2504	0.1247					ENST00000429698.1																			0																																																			0							g.chr13:25525716delA			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25525716delA														0	282	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.383	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	6						3	6	---	---	---	---
SLC52A3	113278	broad.mit.edu	37	20	742302	742302	+	Intron	DEL	G	G	-	rs375609719		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:742302delG	ENST00000217254.7	-	4	1439				SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Frame_Shift_Del_p.H414fs	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3						cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGCTAGGGGTGAGGGGTACGC	0.706																																						ENST00000381944.3																			0											c.(1240-1242)acfs		solute carrier family 52 (riboflavin transporter), member 3							18.0	22.0	21.0					20																	742302		2201	4298	6499	SO:0001627	intron_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:742302delG	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.1197+42C>-	20.37:g.742302delG						SLC52A3_ENST00000217254.7_Intron|SLC52A3_ENST00000473664.1_Intron	p.H414fs			Q9NQ40	RFT2_HUMAN			4	1481	-			0					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Frame_Shift_Del	DEL	ENST00000217254.7	37	c.1240delC	CCDS13007.1																																																																																				0.706	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938484	76938484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chrX:76938484delT	ENST00000373344.5	-	9	2478	c.2264delA	c.(2263-2265)aatfs	p.N755fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	755					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						ATGAATTTCATTAATATCAGT	0.368			"""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.(2263-2265)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						125.0	124.0	124.0					X																	76938484		2203	4296	6499	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:76938484delT	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.2264delA	X.37:g.76938484delT	ENSP00000362441:p.Asn755fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs	p.N755fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2478	-			755					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2264delA	CCDS14434.1																																																																																				0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		192	69						192	69	---	---	---	---
