#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATAD3C	219293	broad.mit.edu	37	1	1389856	1389856	+	Silent	SNP	T	T	G	rs1781146		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:1389856T>G	ENST00000378785.2	+	4	1349	c.354T>G	c.(352-354)ctT>ctG	p.L118L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCACGGTGCTTGAGGCGCTGC	0.667																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(352-354)ctT>ctG		ATPase family, AAA domain containing 3C																																				SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1389856T>G	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.354T>G	1.37:g.1389856T>G							p.L118L	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	1349	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	118					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.354T>G	CCDS44039.1																																																																																				0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		3	13	3	13	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144874026	144874026	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:144874026G>C	ENST00000369354.3	-	31	5120	c.4931C>G	c.(4930-4932)tCc>tGc	p.S1644C	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1780C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Intron|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1644					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5338-5340)tCc>tGc		phosphodiesterase 4D interacting protein							321.0	333.0	329.0					1																	144874026		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144874026G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4931C>G	1.37:g.144874026G>C	ENSP00000358360:p.Ser1644Cys					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000530740.1_Intron	p.S1780C			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	34	5377	-			1644					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5339C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753675	0.49362	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01963	4.53;4.63;4.62;4.63	5.27	2.43	0.29744	.	.	.	.	.	T	0.02342	0.0072	L	0.56769	1.78	0.80722	D	1	D;D	0.56287	0.975;0.957	P;P	0.53062	0.717;0.525	T	0.52873	-0.8517	9	0.72032	D	0.01	.	7.2899	0.26360	0.269:0.0:0.731:0.0	.	1600;1644	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	C	1600;1644;1644;1780	ENSP00000327209:S1600C;ENSP00000358360:S1644C;ENSP00000358363:S1644C;ENSP00000358366:S1780C	ENSP00000327209:S1600C	S	-	2	0	PDE4DIP	143585383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.108000	0.41854	0.385000	0.24970	-0.142000	0.14014	TCC		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	321	6	321	---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165765267	165765267	+	Silent	SNP	C	C	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:165765267C>A	ENST00000409149.3	-	10	1101	c.810G>T	c.(808-810)gtG>gtT	p.V270V	SLC38A11_ENST00000303735.4_Silent_p.V248V|SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000409058.1_Silent_p.V301V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	270					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CACCAAAAAACACATTGGCAA	0.393																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(742-744)gtG>gtT		solute carrier family 38, member 11							75.0	71.0	72.0					2																	165765267		2203	4300	6503	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165765267C>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.810G>T	2.37:g.165765267C>A						SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000409149.3_Silent_p.V270V	p.V248V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			9	1074	-			270					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.744G>T	CCDS56142.1																																																																																				0.393	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		3	49	3	49	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456528	179456528	+	Silent	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:179456528A>G	ENST00000591111.1	-	253	55319	c.55095T>C	c.(55093-55095)ggT>ggC	p.G18365G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G20006G|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G10941G			Q8WZ42	TITIN_HUMAN	titin	18365	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TGATTGGAGAACCACCATCAC	0.458																																						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.(60016-60018)ggT>ggC		titin							76.0	72.0	73.0					2																	179456528		1867	4093	5960	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456528A>G	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.55095T>C	2.37:g.179456528A>G						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN_ENST00000460472.2_Silent_p.G10941G|TTN_ENST00000591111.1_Silent_p.G18365G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.G20006G	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)		303	60242	-			18365			Fibronectin type-III 44.		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	Silent	SNP	ENST00000591111.1	37	c.60018T>C																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	35	8	35	---	---	---	---
AC010731.4	0	broad.mit.edu	37	2	207509038	207509038	+	lincRNA	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:207509038C>T	ENST00000543490.1	+	0	253																											TGGGAATGTGCTGTGTATCTC	0.547																																						ENST00000543490.1																			0																				55.0	56.0	56.0					2																	207509038		2033	4183	6216			0							g.chr2:207509038C>T																													2.37:g.207509038C>T														0	253	+									RNA	SNP	ENST00000543490.1	37																																																																																						0.547	AC010731.4-201	KNOWN	basic	lincRNA	lincRNA				7	24	7	24	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38168013	38168013	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr3:38168013A>G	ENST00000333167.8	-	8	977	c.805T>C	c.(805-807)Tct>Cct	p.S269P	ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000480865.1_5'UTR|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	269					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCTGTGGTAGAACCATCTTTC	0.587																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(805-807)Tct>Cct		acetyl-CoA acyltransferase 1							155.0	131.0	139.0					3																	38168013		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38168013A>G	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.805T>C	3.37:g.38168013A>G	ENSP00000333664:p.Ser269Pro					ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000444607.2_3'UTR	p.S269P	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	8	977	-			269					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.805T>C	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	A	8.332	0.826625	0.16749	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000544624	D;D;D;D	0.91011	-2.77;-2.22;-2.77;-2.77	5.35	4.16	0.48862	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.181996	0.56097	D	0.000028	D	0.94456	0.8216	M	0.89904	3.07	0.80722	D	1	P;P;D;D	0.60160	0.943;0.944;0.987;0.983	P;P;D;P	0.63793	0.634;0.811;0.918;0.832	D	0.92441	0.5962	10	0.19147	T	0.46	-20.0348	9.3002	0.37840	0.5455:0.0:0.0:0.4545	.	201;228;236;269	F5GXL8;C9JDE9;G5E935;P09110	.;.;.;THIK_HUMAN	P	269;236;228;201;117	ENSP00000333664:S269P;ENSP00000301810:S236P;ENSP00000395183:S228P;ENSP00000445710:S117P	ENSP00000301810:S236P	S	-	1	0	ACAA1	38143017	1.000000	0.71417	0.806000	0.32338	0.773000	0.43773	4.496000	0.60360	0.824000	0.34613	0.533000	0.62120	TCT		0.587	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		7	62	7	62	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115858527	115858527	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr4:115858527G>C	ENST00000264363.2	-	5	2032	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	452	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCAGATGTGGATATTCTTCA	0.468																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1354-1356)Cca>Gca		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							188.0	178.0	181.0					4																	115858527		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858527G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1354C>G	4.37:g.115858527G>C	ENSP00000264363:p.Pro452Ala						p.P452A	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	2032	-		Ovarian(17;0.156)	452			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1354C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033676	0.93575	.	.	ENSG00000138653	ENST00000264363	T	0.45668	0.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.79193	-0.1904	10	0.87932	D	0	.	19.9888	0.97358	0.0:0.0:1.0:0.0	.	452	Q9H3R1	NDST4_HUMAN	A	452	ENSP00000264363:P452A	ENSP00000264363:P452A	P	-	1	0	NDST4	116077976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.856000	0.99531	2.704000	0.92352	0.655000	0.94253	CCA		0.468	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		6	73	6	73	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43174661	43174661	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:43174661A>G	ENST00000399534.1	+	7	1342	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.N399S			P52739	ZN131_HUMAN	zinc finger protein 131	433					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGCAAGGAAATGAATTAAGG	0.398																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1195-1197)aAt>aGt		zinc finger protein 131							94.0	86.0	88.0					5																	43174661		1889	4114	6003	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174661A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1298A>G	5.37:g.43174661A>G	ENSP00000382450:p.Asn433Ser					ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N433S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S	p.N399S			P52739	ZN131_HUMAN			7	1652	+			433					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1196A>G		.	.	.	.	.	.	.	.	.	.	A	6.532	0.466436	0.12402	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.202328	0.52532	D	0.000067	T	0.02455	0.0075	N	0.02103	-0.685	0.30962	N	0.723533	B;B	0.13145	0.007;0.001	B;B	0.15052	0.012;0.002	T	0.34428	-0.9829	10	0.02654	T	1	-9.9541	6.0216	0.19632	0.7982:0.0:0.2018:0.0	.	433;399	P52739;P52739-2	ZN131_HUMAN;.	S	433;399;433;399;399	ENSP00000426504:N433S;ENSP00000305804:N399S;ENSP00000382450:N433S;ENSP00000423945:N399S;ENSP00000421246:N399S	ENSP00000305804:N399S	N	+	2	0	ZNF131	43210418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.866000	0.56040	2.135000	0.66039	0.377000	0.23210	AAT		0.398	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		11	72	11	72	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70860624	70860624	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:70860624C>T	ENST00000358731.4	+	39	8050	c.7787C>T	c.(7786-7788)gCc>gTc	p.A2596V	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2596					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATAAAAGTGCCCAAAAGCGG	0.328																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7786-7788)gCc>gTc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							101.0	101.0	101.0					5																	70860624		1784	4059	5843	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70860624C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7787C>T	5.37:g.70860624C>T	ENSP00000351575:p.Ala2596Val					BDP1_ENST00000380675.2_3'UTR	p.A2596V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	39	8050	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2596					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7787C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.059	0.379154	0.11466	.	.	ENSG00000145734	ENST00000358731	T	0.03717	3.83	5.65	1.11	0.20524	.	0.969547	0.08479	N	0.939833	T	0.01287	0.0042	N	0.00926	-1.1	0.48762	D	0.999708	B	0.06786	0.001	B	0.04013	0.001	T	0.44922	-0.9296	10	0.33141	T	0.24	.	1.8667	0.03200	0.1155:0.1548:0.3768:0.3529	.	2596	A6H8Y1	BDP1_HUMAN	V	2596	ENSP00000351575:A2596V	ENSP00000351575:A2596V	A	+	2	0	BDP1	70896380	0.016000	0.18221	0.704000	0.30370	0.298000	0.27526	-0.072000	0.11486	0.277000	0.22141	-0.147000	0.13772	GCC		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		6	50	6	50	---	---	---	---
TBC1D22B	55633	broad.mit.edu	37	6	37280704	37280704	+	Silent	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:37280704G>C	ENST00000373491.3	+	9	1139	c.993G>C	c.(991-993)gtG>gtC	p.V331V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	331	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGAGGATGTGGAGAACTTTG	0.438																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(991-993)gtG>gtC		TBC1 domain family, member 22B							115.0	108.0	110.0					6																	37280704		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37280704G>C	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.993G>C	6.37:g.37280704G>C							p.V331V	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		9	1139	+			331			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.993G>C	CCDS4832.1																																																																																				0.438	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		3	43	3	43	---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19316028	19316028	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:19316028C>T	ENST00000454498.2	-	5	1773	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	254					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TTGAGCTTTTCATTTTTCACT	0.448																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(760-762)Gaa>Aaa		chondroitin sulfate N-acetylgalactosaminyltransferase 1							361.0	333.0	343.0					8																	19316028		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316028C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.760G>A	8.37:g.19316028C>T	ENSP00000411816:p.Glu254Lys					CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K	p.E254K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1773	-			254					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.760G>A	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035021	0.93575	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.61	5.61	0.85477	.	0.043062	0.85682	N	0.000000	T	0.45955	0.1368	M	0.86573	2.825	0.80722	D	1	D	0.59767	0.986	D	0.65323	0.934	T	0.34925	-0.9809	10	0.23302	T	0.38	-40.051	18.5627	0.91107	0.0:1.0:0.0:0.0	.	254	Q8TDX6	CGAT1_HUMAN	K	254	ENSP00000411816:E254K;ENSP00000330805:E254K;ENSP00000310891:E254K;ENSP00000429809:E254K;ENSP00000442155:E254K	ENSP00000310891:E254K	E	-	1	0	CSGALNACT1	19360308	1.000000	0.71417	0.614000	0.29051	0.782000	0.44232	5.691000	0.68249	2.813000	0.96785	0.655000	0.94253	GAA		0.448	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		13	229	13	229	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37732517	37732517	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:37732517G>T	ENST00000330843.4	-	3	1150	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	380				QL -> DV (in Ref. 1; AAM09571). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCGGAGAGCTGCCTGTCAGAA	0.562																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1138-1140)Cag>Aag		RAB11 family interacting protein 1 (class I)							64.0	65.0	64.0					8																	37732517		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732517G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1138C>A	8.37:g.37732517G>T	ENSP00000331342:p.Gln380Lys					RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K	p.Q380K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1150	-		Lung NSC(58;0.118)|all_lung(54;0.195)	380	QL -> DV (in Ref. 1; AAM09571).				J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1138C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.872042	0.00542	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.29142	2.33;2.78;1.59;1.58	4.43	-4.73	0.03259	.	2.275330	0.01684	N	0.026305	T	0.12561	0.0305	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.0	B;B;B;B	0.10450	0.001;0.002;0.005;0.001	T	0.16808	-1.0390	10	0.06365	T	0.9	1.6392	0.5967	0.00737	0.2383:0.3175:0.1678:0.2765	.	232;232;380;380	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	380;380;232;232	ENSP00000287263:Q380K;ENSP00000331342:Q380K;ENSP00000430009:Q232K;ENSP00000430680:Q232K	ENSP00000287263:Q380K	Q	-	1	0	RAB11FIP1	37851675	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.508000	0.06344	-1.129000	0.02918	-0.261000	0.10672	CAG		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		3	44	3	44	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143995679	143995679	+	Splice_Site	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:143995679C>T	ENST00000323110.2	-	5	957		c.e5+1			NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTGGCCTGACCGTGTCCACG	0.622									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.e5+1		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						124.0	107.0	112.0					8																	143995679		2203	4300	6503	SO:0001630	splice_region_variant	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995679C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.954+1G>A	8.37:g.143995679C>T								NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			5	957	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)							B0ZBE4|Q16726	Splice_Site	SNP	ENST00000323110.2	37		CCDS6393.1	.	.	.	.	.	.	.	.	.	.	c	15.35	2.808025	0.50421	.	.	ENSG00000179142	ENST00000323110	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2748	0.60182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11B2	143992681	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.844000	0.69430	1.977000	0.57605	0.313000	0.20887	.		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		Intron	4	46	4	46	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100080777	100080777	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:100080777C>T	ENST00000357054.1	+	24	2476	c.1541C>T	c.(1540-1542)cCc>cTc	p.P514L	CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L|CCDC180_ENST00000375202.2_Missense_Mutation_p.P375L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	514						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATCCATACTCCCCCGGCTGTG	0.572																																						ENST00000375202.2																			0											c.(1123-1125)cCc>cTc		coiled-coil domain containing 180							82.0	64.0	70.0					9																	100080777		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100080777C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1541C>T	9.37:g.100080777C>T	ENSP00000349562:p.Pro514Leu					CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.P514L	p.P375L							24	2476	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1124C>T		.	.	.	.	.	.	.	.	.	.	C	16.14	3.037444	0.54896	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.61	4.61	0.57282	.	0.128458	0.52532	D	0.000067	T	0.66944	0.2841	M	0.77103	2.36	0.47778	D	0.999517	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65894	-0.6057	10	0.35671	T	0.21	-4.6807	13.1516	0.59492	0.0:1.0:0.0:0.0	.	372;514;375;514	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	L	514;375;372;398;375	ENSP00000349562:P514L;ENSP00000364348:P375L;ENSP00000414000:P372L;ENSP00000434727:P375L	ENSP00000349562:P514L	P	+	2	0	C9orf174	99120598	0.881000	0.30235	0.522000	0.27862	0.024000	0.10985	3.944000	0.56629	2.548000	0.85928	0.563000	0.77884	CCC		0.572	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		6	44	6	44	---	---	---	---
INVS	27130	broad.mit.edu	37	9	103027138	103027138	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:103027138G>C	ENST00000262457.2	+	11	1684	c.1499G>C	c.(1498-1500)gGa>gCa	p.G500A	INVS_ENST00000262456.2_Missense_Mutation_p.G500A|INVS_ENST00000541287.1_Missense_Mutation_p.G404A	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	500					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGCAACAATGGATACCTTGAT	0.343																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1498-1500)gGa>gCa		inversin							148.0	135.0	139.0					9																	103027138		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103027138G>C	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1499G>C	9.37:g.103027138G>C	ENSP00000262457:p.Gly500Ala					INVS_ENST00000262456.2_Missense_Mutation_p.G500A|INVS_ENST00000541287.1_Missense_Mutation_p.G404A	p.G500A	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			11	1684	+		Acute lymphoblastic leukemia(62;0.056)	500					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.1499G>C	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713945	0.89112	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;D	0.87729	-0.73;-0.73;-2.29	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.955;0.998;0.994	D	0.94781	0.7953	10	0.62326	D	0.03	.	18.5227	0.90959	0.0:0.0:1.0:0.0	.	404;500;500	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	A	500;404;500	ENSP00000262457:G500A;ENSP00000444454:G404A;ENSP00000262456:G500A	ENSP00000262456:G500A	G	+	2	0	INVS	102066959	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.382000	0.81193	0.561000	0.74099	GGA		0.343	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		4	68	4	68	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32304509	32304509	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr10:32304509A>G	ENST00000302418.4	-	25	3297	c.2840T>C	c.(2839-2841)gTt>gCt	p.V947A	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	947	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGTTCTGAACAAATGCACC	0.448			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2839-2841)gTt>gCt		kinesin family member 5B							104.0	91.0	95.0					10																	32304509		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32304509A>G	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2840T>C	10.37:g.32304509A>G	ENSP00000307078:p.Val947Ala						p.V947A	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			25	3297	-		Prostate(175;0.0137)	947			Globular.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2840T>C	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646928	0.29246	.	.	ENSG00000170759	ENST00000302418	T	0.74106	-0.81	5.6	1.49	0.22878	.	0.746866	0.13312	N	0.397366	T	0.42720	0.1215	N	0.02011	-0.69	0.27015	N	0.964603	B	0.02656	0.0	B	0.01281	0.0	T	0.31613	-0.9937	10	0.15066	T	0.55	.	7.0608	0.25125	0.4136:0.0:0.5864:0.0	.	947	P33176	KINH_HUMAN	A	947	ENSP00000307078:V947A	ENSP00000307078:V947A	V	-	2	0	KIF5B	32344515	1.000000	0.71417	0.158000	0.22627	0.996000	0.88848	2.378000	0.44309	0.454000	0.26884	0.482000	0.46254	GTT		0.448	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		4	98	4	98	---	---	---	---
ATM	472	broad.mit.edu	37	11	108225561	108225561	+	Missense_Mutation	SNP	T	T	G	rs587782149		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr11:108225561T>G	ENST00000452508.2	+	62	8999	c.8810T>G	c.(8809-8811)gTg>gGg	p.V2937G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.V2937G|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2937	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACCATGGAAGTGATGAGAAAC	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8809-8811)gTg>gGg	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							189.0	197.0	194.0					11																	108225561		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108225561T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8810T>G	11.37:g.108225561T>G	ENSP00000388058:p.Val2937Gly	TSP Lung(14;0.12)				ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.V2937G	p.V2937G	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	61	9195	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2937			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8810T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.719905	0.89205	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82255	-1.59;-1.59	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94962	0.8109	10	0.87932	D	0	.	15.9979	0.80265	0.0:0.0:0.0:1.0	.	2937	Q13315	ATM_HUMAN	G	2937	ENSP00000278616:V2937G;ENSP00000388058:V2937G	ENSP00000278616:V2937G	V	+	2	0	ATM	107730771	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.010000	0.88615	2.183000	0.69458	0.383000	0.25322	GTG		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		13	80	13	80	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33292152	33292152	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr14:33292152C>G	ENST00000280979.4	+	13	5303	c.5133C>G	c.(5131-5133)atC>atG	p.I1711M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1711					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAACAAGATCCCGGAATCGA	0.458																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5131-5133)atC>atG		A kinase (PRKA) anchor protein 6							146.0	129.0	135.0					14																	33292152		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292152C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5133C>G	14.37:g.33292152C>G	ENSP00000280979:p.Ile1711Met					AKAP6_ENST00000557272.1_Intron	p.I1711M	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5303	+	Breast(36;0.0388)|Prostate(35;0.15)		1711					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5133C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390002	0.25118	.	.	ENSG00000151320	ENST00000280979	T	0.06933	3.24	5.78	2.97	0.34412	.	0.610413	0.17745	N	0.163420	T	0.09774	0.0240	L	0.60455	1.87	0.80722	D	1	P	0.46706	0.883	B	0.42555	0.391	T	0.07790	-1.0754	10	0.87932	D	0	-0.4627	5.1958	0.15236	0.2225:0.5491:0.0:0.2285	.	1711	Q13023	AKAP6_HUMAN	M	1711	ENSP00000280979:I1711M	ENSP00000280979:I1711M	I	+	3	3	AKAP6	32361903	0.817000	0.29147	0.998000	0.56505	0.927000	0.56198	-0.096000	0.11059	0.799000	0.34018	0.650000	0.86243	ATC		0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		9	89	9	89	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42278134	42278134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:42278134G>A	ENST00000399518.3	-	18	2591	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	690	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GACAAAGAACGCAGTGTCCAG	0.567																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(2104-2106)gCg>gTg		phospholipase A2, group IVE							57.0	64.0	62.0					15																	42278134		2143	4242	6385	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42278134G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2105C>T	15.37:g.42278134G>A	ENSP00000382434:p.Ala702Val					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	p.A702V	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	18	2591	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	690			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.2105C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423264	0.83559	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04917	3.53;3.53	5.72	5.72	0.89469	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.130904	0.49916	D	0.000121	T	0.22589	0.0545	M	0.72894	2.215	0.30195	N	0.799123	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.01810	-1.1269	10	0.87932	D	0	-20.3783	14.3001	0.66341	0.0:0.1487:0.8512:0.0	.	673;690	C9JK77;Q3MJ16	.;PA24E_HUMAN	V	702;673	ENSP00000382434:A702V;ENSP00000413897:A673V	ENSP00000382434:A702V	A	-	2	0	PLA2G4E	40065426	0.898000	0.30612	0.154000	0.22540	0.986000	0.74619	1.916000	0.39986	2.691000	0.91804	0.655000	0.94253	GCG		0.567	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		3	15	3	15	---	---	---	---
IMP3	55272	broad.mit.edu	37	15	75931970	75931970	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:75931970G>T	ENST00000314852.2	-	2	1483	c.540C>A	c.(538-540)ttC>ttA	p.F180L	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000403490.1_Missense_Mutation_p.F180L|CTD-2026K11.2_ENST00000564683.1_RNA			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	0					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						CTTCCAGATCGAAGTCATCGC	0.532																																						ENST00000314852.2																			0				large_intestine(1)	1						c.(538-540)ttC>ttA		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)							84.0	74.0	77.0					15																	75931970		2197	4294	6491	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75931970G>T	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.540C>A	15.37:g.75931970G>T	ENSP00000326981:p.Phe180Leu					IMP3_ENST00000403490.1_Missense_Mutation_p.F180L	p.F180L			Q9NV31	IMP3_HUMAN			2	1483	-			180					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.540C>A	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769380	0.69992	.	.	ENSG00000177971	ENST00000314852;ENST00000403490;ENST00000542473	.	.	.	5.99	0.269	0.15631	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.91717	3.235	0.58432	D	0.999996	D	0.67145	0.996	D	0.64877	0.93	T	0.72789	-0.4187	9	0.87932	D	0	-22.9208	5.1344	0.14926	0.2765:0.0:0.5827:0.1408	.	180	Q9NV31	IMP3_HUMAN	L	180;180;27	.	ENSP00000326981:F180L	F	-	3	2	IMP3	73719025	1.000000	0.71417	0.993000	0.49108	0.491000	0.33493	1.899000	0.39818	-0.199000	0.10317	-0.895000	0.02911	TTC		0.532	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		8	58	8	58	---	---	---	---
GAN	8139	broad.mit.edu	37	16	81390408	81390408	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:81390408A>T	ENST00000568107.2	+	4	814	c.652A>T	c.(652-654)Atg>Ttg	p.M218L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	218	BACK.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAAGGATGTTATGTCAGCTCT	0.408																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000568107.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(652-654)Atg>Ttg		gigaxonin							122.0	110.0	114.0					16																	81390408		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81390408A>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.652A>T	16.37:g.81390408A>T	ENSP00000476795:p.Met218Leu						p.M218L	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			4	814	+		Colorectal(91;0.153)				BACK.			Missense_Mutation	SNP	ENST00000568107.2	37	c.652A>T	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705012	0.48412	.	.	ENSG00000127688	ENST00000248272	T	0.57595	0.39	5.53	4.45	0.53987	BTB/Kelch-associated (2);	0.146625	0.85682	D	0.000000	T	0.18635	0.0447	N	0.00873	-1.125	0.46241	D	0.998943	B	0.02656	0.0	B	0.04013	0.001	T	0.25745	-1.0123	10	0.02654	T	1	.	11.3574	0.49623	0.929:0.0:0.071:0.0	.	218	Q9H2C0	GAN_HUMAN	L	218	ENSP00000248272:M218L	ENSP00000248272:M218L	M	+	1	0	GAN	79947909	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.448000	0.80631	0.937000	0.37394	0.460000	0.39030	ATG		0.408	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			12	107	12	107	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87451328	87451328	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:87451328C>G	ENST00000268616.4	-	8	927	c.710G>C	c.(709-711)gGt>gCt	p.G237A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	237							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGACGGGATACCAGCCACTCC	0.682																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(709-711)gGt>gCt		zinc finger, CCHC domain containing 14							17.0	20.0	19.0					16																	87451328		2194	4291	6485	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451328C>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.710G>C	16.37:g.87451328C>G	ENSP00000268616:p.Gly237Ala						p.G237A	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	927	-			237					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.710G>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462472	0.63513	.	.	ENSG00000140948	ENST00000268616	T	0.18960	2.18	5.77	5.77	0.91146	.	0.054133	0.64402	D	0.000001	T	0.30198	0.0757	L	0.29908	0.895	0.48185	D	0.999608	D;D	0.58620	0.976;0.983	P;P	0.54060	0.741;0.556	T	0.00363	-1.1788	10	0.40728	T	0.16	-37.6002	20.3473	0.98799	0.0:1.0:0.0:0.0	.	237;237	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	A	237	ENSP00000268616:G237A	ENSP00000268616:G237A	G	-	2	0	ZCCHC14	86008829	1.000000	0.71417	0.980000	0.43619	0.015000	0.08874	4.701000	0.61810	2.884000	0.98904	0.655000	0.94253	GGT		0.682	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	17	4	17	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	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_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	p.H193R	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)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	21	7	21	---	---	---	---
KIF18B	146909	broad.mit.edu	37	17	43012683	43012683	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:43012683G>A	ENST00000593135.1	-	3	512	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C|KIF18B_ENST00000587309.1_Missense_Mutation_p.R139C	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCTCCAGGCGCCTGTACAGT	0.657																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(415-417)Cgc>Tgc		kinesin family member 18B							47.0	55.0	52.0					17																	43012683		1982	4140	6122	SO:0001583	missense	146909							g.chr17:43012683G>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.415C>T	17.37:g.43012683G>A	ENSP00000465992:p.Arg139Cys					KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000593135.1_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C	p.R139C	NM_001264573.1	NP_001251503.1					3	438	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.415C>T	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952215	0.34471	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.76060	-0.99;-0.99	5.5	4.53	0.55603	Kinesin, motor domain (4);	0.000000	0.35838	N	0.002954	T	0.74741	0.3756	M	0.65677	2.01	0.24738	N	0.993054	P;P;P	0.47350	0.894;0.87;0.698	P;B;B	0.47827	0.558;0.329;0.329	T	0.67432	-0.5672	10	0.41790	T	0.15	.	9.0664	0.36467	0.0:0.1245:0.4622:0.4133	.	148;148;148	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	C	139	ENSP00000412798:R139C;ENSP00000341466:R139C	ENSP00000341466:R139C	R	-	1	0	KIF18B	40368209	0.972000	0.33761	0.086000	0.20670	0.534000	0.34807	2.857000	0.48349	1.298000	0.44778	0.555000	0.69702	CGC		0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	25	3	25	---	---	---	---
HOXB5	3215	broad.mit.edu	37	17	46670614	46670614	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:46670614T>G	ENST00000239151.5	-	1	709	c.431A>C	c.(430-432)gAa>gCa	p.E144A	HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	144					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GCTTGCCGCTTCCTCAGGCTC	0.662																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(430-432)gAa>gCa		homeobox B5							32.0	35.0	34.0					17																	46670614		2202	4300	6502	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670614T>G		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.431A>C	17.37:g.46670614T>G	ENSP00000239151:p.Glu144Ala					HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	p.E144A	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	709	-			144					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.431A>C	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311506	0.60414	.	.	ENSG00000120075	ENST00000239151	D	0.91945	-2.94	5.31	5.31	0.75309	.	0.154247	0.56097	D	0.000030	D	0.92799	0.7710	M	0.84219	2.685	0.80722	D	1	P	0.40578	0.722	B	0.40659	0.336	D	0.93549	0.6885	10	0.66056	D	0.02	.	14.9365	0.70960	0.0:0.0:0.0:1.0	.	144	P09067	HXB5_HUMAN	A	144	ENSP00000239151:E144A	ENSP00000239151:E144A	E	-	2	0	HOXB5	44025613	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.656000	0.83736	2.007000	0.58848	0.374000	0.22700	GAA		0.662	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			4	30	4	30	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50204808	50204808	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:50204808G>A	ENST00000392518.4	+	7	982	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGACCGCGGTCCTGGCGCA	0.677																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(610-612)Gtc>Atc		carnitine palmitoyltransferase 1C							40.0	36.0	37.0					19																	50204808		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50204808G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.610G>A	19.37:g.50204808G>A	ENSP00000376303:p.Val204Ile					CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I	p.V204I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	7	982	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	204					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.610G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833131	0.32421	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.39	3.32	0.38043	.	1.497360	0.04512	N	0.383082	D	0.84352	0.5453	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.19817	0.01;0.039;0.0;0.0	B;B;B;B	0.20955	0.021;0.032;0.003;0.005	T	0.69602	-0.5101	10	0.38643	T	0.18	-0.9009	13.3462	0.60575	0.0:0.1603:0.8397:0.0	.	42;204;204;204	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	I	204;204;204;204;42	ENSP00000376303:V204I;ENSP00000346138:V204I;ENSP00000384465:V204I;ENSP00000319343:V204I	ENSP00000295404:V42I	V	+	1	0	CPT1C	54896620	0.007000	0.16637	0.006000	0.13384	0.885000	0.51271	1.541000	0.36126	1.175000	0.42826	0.542000	0.68232	GTC		0.677	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		3	41	3	41	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56372782	56372782	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:56372782C>A	ENST00000301295.6	+	4	2309	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	629					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTGGCATCACATCTGCTCTG	0.562																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1885-1887)caC>caA		NLR family, pyrin domain containing 4							121.0	95.0	104.0					19																	56372782		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56372782C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1887C>A	19.37:g.56372782C>A	ENSP00000301295:p.His629Gln					NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q	p.H629Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2309	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	629					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1887C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	7.297	0.612227	0.14066	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.86366	-2.11;-2.11	4.49	-8.97	0.00758	.	.	.	.	.	T	0.65595	0.2706	N	0.11064	0.09	0.09310	N	1	B;B;B	0.24768	0.041;0.111;0.068	B;B;B	0.22386	0.032;0.039;0.018	T	0.55805	-0.8083	9	0.21014	T	0.42	.	3.946	0.09349	0.1012:0.1902:0.1285:0.5801	.	629;554;629	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Q	629	ENSP00000301295:H629Q;ENSP00000344787:H629Q	ENSP00000301295:H629Q	H	+	3	2	NLRP4	61064594	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.581000	0.02119	-1.920000	0.01069	-0.150000	0.13652	CAC		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		7	52	7	52	---	---	---	---
TTC38	55020	broad.mit.edu	37	22	46685404	46685404	+	Silent	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr22:46685404G>A	ENST00000381031.3	+	12	1264	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	TTC38_ENST00000445282.2_Silent_p.E338E	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	396						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCGTCCTGGAGCTGCTCCTGC	0.711																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(1186-1188)gaG>gaA		tetratricopeptide repeat domain 38							22.0	28.0	26.0					22																	46685404		2046	4202	6248	SO:0001819	synonymous_variant	55020						binding	g.chr22:46685404G>A		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1188G>A	22.37:g.46685404G>A						TTC38_ENST00000445282.2_Silent_p.E338E	p.E396E	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN			12	1264	+			396					Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.1188G>A	CCDS43030.1																																																																																				0.711	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		10	60	10	60	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53618049	53618049	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chrX:53618049T>C	ENST00000342160.3	-	33	4463	c.4006A>G	c.(4006-4008)Atg>Gtg	p.M1336V	HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V|HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1336	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTGCCTCCATTGCATGTTCC	0.468																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4006-4008)Atg>Gtg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							163.0	128.0	140.0					X																	53618049		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53618049T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4006A>G	X.37:g.53618049T>C	ENSP00000340648:p.Met1336Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V	p.M1336V			Q7Z6Z7	HUWE1_HUMAN			33	4463	-			1336			UBA.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4006A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.274|4.274	0.049896|0.049896	0.08243|0.08243	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.18657|.	2.2;2.2;2.2|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);|.	0.106122|.	0.64402|.	D|.	0.000015|.	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.01209|0.01209	-0.955|-0.955	0.34257|0.34257	D|D	0.679483|0.679483	B;B|.	0.15930|.	0.015;0.012|.	B;B|.	0.21151|.	0.033;0.02|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.07030|.	T|.	0.85|.	.|.	9.8735|9.8735	0.41189|0.41189	0.0:0.0:0.1693:0.8307|0.0:0.0:0.1693:0.8307	.|.	1336;1336|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|S	1336|369	ENSP00000340648:M1336V;ENSP00000262854:M1336V;ENSP00000218328:M1336V|.	ENSP00000218328:M1336V|.	M|N	-|-	1|2	0|0	HUWE1|HUWE1	53634774|53634774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.621000|4.621000	0.61233|0.61233	1.858000|1.858000	0.53909|0.53909	0.441000|0.441000	0.28932|0.28932	ATG|AAT		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	12	4	12	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696457	47696462	+	In_Frame_Del	DEL	TGCCCG	TGCCCG	-			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:47696457_47696462delTGCCCG	ENST00000393328.2	-	6	726_731	c.361_366delCGGGCA	c.(361-366)cgggcadel	p.RA121del	SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	121	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R121Q(1)|p.A122delA(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAAACCTATATGCCCGTTGACTCTCT	0.427										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.R121Q(1)|p.A122delA(1)	prostate(1)|endometrium(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(361-366)cgggcadel		speckle-type POZ protein																																				SO:0001651	inframe_deletion	8405				mRNA processing	nucleus	protein binding	g.chr17:47696457_47696462delTGCCCG	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.361_366delCGGGCA	17.37:g.47696457_47696462delTGCCCG	ENSP00000377001:p.Arg121_Ala122del	Prostate(2;0.17)				SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393328.2_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del	p.RA121del	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	831_836	-			121			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	In_Frame_Del	DEL	ENST00000393328.2	37	c.361_366delCGGGCA	CCDS11551.1																																																																																				0.427	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		8	102	8	102	---	---	---	---
