#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KANK4	163782	broad.mit.edu	37	1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	rs374086260		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000354381.3_Missense_Mutation_p.R158H|KANK4_ENST00000371150.1_Missense_Mutation_p.R142H|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774). {ECO:0000305}.		cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(2356-2358)cGc>cAc		KN motif and ankyrin repeat domains 4		C	HIS/ARG	0,4406		0,0,2203	69.0	55.0	60.0		2357	5.3	1.0	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	786/996	62728946	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62728946C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2357G>A	1.37:g.62728946C>T	ENSP00000360195:p.Arg786His					KANK4_ENST00000371150.1_Missense_Mutation_p.R142H|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H	p.R786H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			7	2735	-			786	R -> H (in Ref. 1; BAC03774).				B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2357G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008210	0.93346	0.0	1.16E-4	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.57752	0.38;0.47;0.48	5.3	5.3	0.74995	.	0.000000	0.35378	N	0.003260	T	0.73273	0.3566	M	0.85777	2.775	0.50313	D	0.999866	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.943	T	0.77281	-0.2646	10	0.72032	D	0.01	-13.7329	13.1198	0.59318	0.0:0.9161:0.0:0.0839	.	158;786	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	H	786;158;142	ENSP00000360195:R786H;ENSP00000346352:R158H;ENSP00000360192:R142H	ENSP00000346352:R158H	R	-	2	0	KANK4	62501534	0.971000	0.33674	0.960000	0.40013	0.984000	0.73092	2.379000	0.44318	2.654000	0.90174	0.561000	0.74099	CGC		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		17	13	0	0	0	1	0	17	13				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	19	0	0	0	1	0	5	19				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		3	66	0	0	0	1	0	3	66				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	112	0	0	0	1	0	4	112				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	44	0	0	0	1	0	4	44				
PGK1	5230	broad.mit.edu	37	X	77380495	77380495	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:77380495C>T	ENST00000373316.4	+	9	1228	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000442431.1_Missense_Mutation_p.A218V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	354					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GGAACCAAAGCTCTCATGGAT	0.493																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1060-1062)gCt>gTt		phosphoglycerate kinase 1							92.0	83.0	86.0					X																	77380495		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77380495C>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1061C>T	X.37:g.77380495C>T	ENSP00000362413:p.Ala354Val					PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A218V	p.A354V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			9	1228	+			354					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.1061C>T	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499574	0.44455	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92752	-3.1;-3.1;-3.1	5.24	4.32	0.51571	Phosphoglycerate kinase, C-terminal (1);	0.276333	0.40385	N	0.001112	D	0.92116	0.7501	M	0.85630	2.765	0.34108	D	0.662684	B	0.14012	0.009	B	0.06405	0.002	D	0.93827	0.7124	10	0.66056	D	0.02	-12.9981	13.847	0.63474	0.1522:0.8478:0.0:0.0	.	354	P00558	PGK1_HUMAN	V	354;218;179;326	ENSP00000362413:A354V;ENSP00000405452:A218V;ENSP00000444708:A326V	ENSP00000362413:A354V	A	+	2	0	PGK1	77267151	0.993000	0.37304	0.986000	0.45419	0.985000	0.73830	3.055000	0.49916	2.315000	0.78130	0.513000	0.50165	GCT		0.493	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			12	68	0	0	0	1	0	12	68				
POLQ	10721	broad.mit.edu	37	3	121158888	121158888	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:121158888C>T	ENST00000264233.5	-	27	7468	c.7340G>A	c.(7339-7341)cGt>cAt	p.R2447H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2447					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAATATCTACGCCTTCCCAA	0.328								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(7339-7341)cGt>cAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							127.0	124.0	125.0					3																	121158888		2201	4300	6501	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121158888C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7340G>A	3.37:g.121158888C>T	ENSP00000264233:p.Arg2447His						p.R2447H	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	27	7468	-			2447					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.7340G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445164	0.83993	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97752	-4.52	5.05	4.17	0.49024	DNA-directed DNA polymerase, family A, palm domain (2);	0.119263	0.56097	D	0.000030	D	0.98485	0.9495	M	0.81942	2.565	0.31784	N	0.630567	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98342	1.0539	10	0.87932	D	0	.	13.0077	0.58715	0.0:0.9216:0.0:0.0784	.	2447;1619	O75417;O75417-2	DPOLQ_HUMAN;.	H	2070;2447;2583	ENSP00000264233:R2447H	ENSP00000264233:R2447H	R	-	2	0	POLQ	122641578	0.785000	0.28726	0.998000	0.56505	0.993000	0.82548	1.938000	0.40203	1.363000	0.46019	0.563000	0.77884	CGT		0.328	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		19	32	0	0	0	1	0	19	32				
RYR2	6262	broad.mit.edu	37	1	237730050	237730050	+	Missense_Mutation	SNP	G	G	A	rs374397612		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:237730050G>A	ENST00000366574.2	+	28	3715	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1133	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGATGAACGTGCCTTTGCC	0.527																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3397-3399)cGt>cAt		ryanodine receptor 2 (cardiac)		G	HIS/ARG	1,4191		0,1,2095	191.0	191.0	191.0		3398	-1.0	0.3	1		191	0,8436		0,0,4218	no	missense	RYR2	NM_001035.2	29	0,1,6313	AA,AG,GG		0.0,0.0239,0.0079	benign	1133/4968	237730050	1,12627	2096	4218	6314	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730050G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3398G>A	1.37:g.237730050G>A	ENSP00000355533:p.Arg1133His					RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H	p.R1133H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3715	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1133			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3398G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319022	0.23994	2.39E-4	0.0	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.59906	0.23;0.23;0.23	5.29	-0.961	0.10337	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.829817	0.10249	N	0.697444	T	0.27798	0.0684	N	0.04090	-0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15292	-1.0442	10	0.15952	T	0.53	.	5.7522	0.18152	0.5671:0.0:0.2929:0.14	.	1133	Q92736	RYR2_HUMAN	H	1133;1131;1117	ENSP00000355533:R1133H;ENSP00000353174:R1131H;ENSP00000443798:R1117H	ENSP00000353174:R1131H	R	+	2	0	RYR2	235796673	0.932000	0.31603	0.316000	0.25252	0.975000	0.68041	1.239000	0.32719	0.001000	0.14605	0.655000	0.94253	CGT		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		88	126	0	0	0	1	0	88	126				
TKT	7086	broad.mit.edu	37	3	53276168	53276168	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:53276168C>T	ENST00000462138.1	-	2	286	c.198G>A	c.(196-198)ccG>ccA	p.P66P	TKT_ENST00000423516.1_Silent_p.P66P|TKT_ENST00000296289.6_Silent_p.P19P|TKT_ENST00000423525.2_Silent_p.P66P			P29401	TKT_HUMAN	transketolase	66					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GGTCATTGTGCGGATTCCGGG	0.617																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(196-198)ccG>ccA		transketolase	Thiamine(DB00152)						106.0	104.0	105.0					3																	53276168		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53276168C>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.198G>A	3.37:g.53276168C>T						TKT_ENST00000423525.2_Silent_p.P66P|TKT_ENST00000423516.1_Silent_p.P66P|TKT_ENST00000296289.6_Silent_p.P19P	p.P66P			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	2	286	-		Prostate(884;0.0959)	66					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.198G>A	CCDS2871.1																																																																																				0.617	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			4	103	0	0	0	1	0	4	103				
RBM12B	389677	broad.mit.edu	37	8	94745679	94745679	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:94745679T>C	ENST00000399300.2	-	3	3173	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	987	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGCCTATCATTTAGATCTTT	0.378																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2959-2961)aAt>aGt		RNA binding motif protein 12B							41.0	39.0	40.0					8																	94745679		1828	4092	5920	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94745679T>C		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2960A>G	8.37:g.94745679T>C	ENSP00000382239:p.Asn987Ser					RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	p.N987S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	3173	-	Breast(36;4.14e-07)		987			RRM 4.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2960A>G	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058575	0.55325	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.08634	3.07;3.07	5.45	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	4.592560	0.00589	N	0.000359	T	0.15478	0.0373	L	0.58428	1.81	0.22975	N	0.99849	B	0.32283	0.362	B	0.34301	0.179	T	0.38735	-0.9647	10	0.62326	D	0.03	1.0726	10.4768	0.44670	0.0:0.0775:0.0:0.9225	.	987	Q8IXT5	RB12B_HUMAN	S	987;867	ENSP00000382239:N987S;ENSP00000427729:N867S	ENSP00000382239:N987S	N	-	2	0	RBM12B	94814855	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	2.831000	0.48144	0.924000	0.37069	0.460000	0.39030	AAT		0.378	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		23	29	0	0	0	1	0	23	29				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			5	81	0	0	0	1	0	5	81				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	58	0	0	0	1	0	4	58				
MON2	23041	broad.mit.edu	37	12	62986483	62986483	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr12:62986483A>G	ENST00000393632.2	+	35	5499	c.5108A>G	c.(5107-5109)gAt>gGt	p.D1703G	MON2_ENST00000552738.1_Missense_Mutation_p.D1674G|MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393630.3_Missense_Mutation_p.D1704G	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1703					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTTTAAGGATTTCATGCAG	0.393																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(5110-5112)gAt>gGt		MON2 homolog (S. cerevisiae)							118.0	109.0	112.0					12																	62986483		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62986483A>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.5108A>G	12.37:g.62986483A>G	ENSP00000377252:p.Asp1703Gly					MON2_ENST00000393632.2_Missense_Mutation_p.D1703G|MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D1674G	p.D1704G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	36	5502	+			1704					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.5111A>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760000	0.69763	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000551397	T;T;T;T	0.60040	0.23;0.23;0.22;0.23	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.981;1.0	D;D;P;D	0.73708	0.948;0.977;0.795;0.981	T	0.72855	-0.4166	9	.	.	.	-18.9567	15.7423	0.77910	1.0:0.0:0.0:0.0	.	1697;1674;572;1703	B9EGP5;F8VWA6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.	G	1703;1704;666;1674;1697;77	ENSP00000377252:D1703G;ENSP00000377250:D1704G;ENSP00000449215:D1674G;ENSP00000377249:D1697G	.	D	+	2	0	MON2	61272750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.107000	0.64212	0.528000	0.53228	GAT		0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		26	43	0	0	0	1	0	26	43				
DBNDD2	55861	broad.mit.edu	37	20	44037441	44037441	+	Splice_Site	SNP	C	C	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:44037441C>A	ENST00000372720.3	+	3	665	c.434C>A	c.(433-435)cCc>cAc	p.P145H	DBNDD2_ENST00000360981.4_Splice_Site_p.P47H|DBNDD2_ENST00000357275.2_Splice_Site_p.P47H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372722.3_Splice_Site_p.P47H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372717.1_Splice_Site_p.P47H|DBNDD2_ENST00000372723.3_Splice_Site_p.P47H|DBNDD2_ENST00000372712.2_Splice_Site_p.P47H|DBNDD2_ENST00000372710.3_Splice_Site_p.P149H|TP53TG5_ENST00000494455.1_5'Flank	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	145					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGATCCGCAGCCCCCATAGGT	0.517																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.e3-1		dysbindin (dystrobrevin binding protein 1) domain containing 2							53.0	56.0	55.0					20																	44037441		2033	4191	6224	SO:0001630	splice_region_variant	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037441C>A	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.434-1C>A	20.37:g.44037441C>A						SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Splice_Site_p.P47_splice|DBNDD2_ENST00000372722.3_Splice_Site_p.P47_splice|DBNDD2_ENST00000360981.4_Splice_Site_p.P47_splice|DBNDD2_ENST00000372723.3_Splice_Site_p.P47_splice|DBNDD2_ENST00000372717.1_Splice_Site_p.P47_splice|DBNDD2_ENST00000372720.3_Splice_Site_p.P145_splice|DBNDD2_ENST00000372710.3_Splice_Site_p.P149_splice|SYS1-DBNDD2_ENST00000452133.1_3'UTR	p.P47_splice			Q9BQY9	DBND2_HUMAN			3	721	+		Myeloproliferative disorder(115;0.0122)	145					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Splice_Site	SNP	ENST00000372720.3	37	c.139_splice	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.431327|4.431327	0.83776|0.83776	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710|ENST00000443296	T;T;T;T;T;T;T;T|T	0.32753|0.31769	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44|1.48	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.064304|0.064304	0.64402|0.64402	D|D	0.000006|0.000006	T|T	0.48589|0.48589	0.1508|0.1508	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.35674|0.35674	-0.9779|-0.9779	9|7	.|.	.|.	.|.	.|.	16.4323|16.4323	0.83853|0.83853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	47;145|.	Q5QPV4;Q9BQY9|.	.;DBND2_HUMAN|.	H|T	47;47;47;145;47;47;47;149|107	ENSP00000361808:P47H;ENSP00000361807:P47H;ENSP00000349822:P47H;ENSP00000361805:P145H;ENSP00000361802:P47H;ENSP00000354250:P47H;ENSP00000361797:P47H;ENSP00000361795:P149H|ENSP00000414161:P107T	.|.	P|P	+|+	2|1	0|0	DBNDD2|DBNDD2	43470855|43470855	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.886000|2.886000	0.48578|0.48578	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.517	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478	Missense_Mutation	17	21	1	0	3.45872e-05	1	3.58923e-05	17	21				
SLC25A52	147407	broad.mit.edu	37	18	29340011	29340011	+	Missense_Mutation	SNP	G	G	A	rs201141859		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr18:29340011G>A	ENST00000579441.2	-	1	613	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SLC25A52_ENST00000269205.5_Missense_Mutation_p.T215M			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	205					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											ACTGTGAGTCGTTGCGGTAGG	0.453																																						ENST00000269205.5																			0											c.(643-645)aCg>aTg		solute carrier family 25, member 52							82.0	80.0	81.0					18																	29340011		2203	4300	6503	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340011G>A		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.614C>T	18.37:g.29340011G>A	ENSP00000462754:p.Thr205Met					SLC25A52_ENST00000579441.2_Missense_Mutation_p.T205M	p.T215M	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	832	-			205						Missense_Mutation	SNP	ENST00000579441.2	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	G	6.760	0.509051	0.12883	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.78595	-1.19	1.22	-2.44	0.06502	Mitochondrial carrier domain (2);	0.739373	0.12911	N	0.428908	T	0.61788	0.2375	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.22753	0.041	T	0.48875	-0.8996	10	0.56958	D	0.05	.	2.2956	0.04149	0.3396:0.0:0.2567:0.4037	.	205	Q3SY17	MCAR2_HUMAN	M	215;205	ENSP00000372612:T215M	ENSP00000372612:T215M	T	-	2	0	MCART2	27594009	0.649000	0.27322	0.002000	0.10522	0.466000	0.32739	0.823000	0.27366	-1.163000	0.02793	-0.424000	0.05967	ACG		0.453	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		8	62	0	0	0	1	0	8	62				
PCNXL3	399909	broad.mit.edu	37	11	65397113	65397113	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:65397113G>T	ENST00000355703.3	+	26	4662	c.4123G>T	c.(4123-4125)Gtc>Ttc	p.V1375F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1375						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACTGCTTCGTCCTGGCCTC	0.617																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(4123-4125)Gtc>Ttc		pecanex-like 3 (Drosophila)							51.0	56.0	54.0					11																	65397113		2184	4278	6462	SO:0001583	missense	399909					integral to membrane		g.chr11:65397113G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4123G>T	11.37:g.65397113G>T	ENSP00000347931:p.Val1375Phe						p.V1375F	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			26	4662	+			1375					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4123G>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328497	0.81690	.	.	ENSG00000197136	ENST00000355703	T	0.09163	3.01	5.13	3.12	0.35913	.	0.066820	0.64402	D	0.000015	T	0.23289	0.0563	M	0.73962	2.25	0.41234	D	0.986592	D;P	0.53619	0.961;0.933	P;B	0.58820	0.846;0.349	T	0.01334	-1.1382	10	0.87932	D	0	.	5.6347	0.17530	0.3012:0.0:0.6988:0.0	.	262;1375	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	F	1375	ENSP00000347931:V1375F	ENSP00000347931:V1375F	V	+	1	0	PCNXL3	65153689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.114000	0.77103	1.418000	0.47098	0.555000	0.69702	GTC		0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	14	1	0	0.00198382	1	0.00202056	7	14				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	45	1	0	0.00909568	1	0.00909568	4	45				
ZNF438	220929	broad.mit.edu	37	10	31134429	31134429	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:31134429C>G	ENST00000361310.3	-	7	2277	c.1948G>C	c.(1948-1950)Ggt>Cgt	p.G650R	ZNF438_ENST00000452305.1_Missense_Mutation_p.G640R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G601R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	650					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGACAACGACCACATTTGATT	0.393																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1801-1803)Ggt>Cgt		zinc finger protein 438							73.0	74.0	74.0					10																	31134429		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31134429C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1948G>C	10.37:g.31134429C>G	ENSP00000354663:p.Gly650Arg					ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G640R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G650R	p.G601R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			8	2555	-		Prostate(175;0.0587)	650					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1801G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562377	0.86335	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.73;2.73;2.73;2.73;2.72;2.72;2.72;2.75	5.95	5.05	0.67936	Zinc finger, C2H2-like (1);	0.043382	0.85682	D	0.000000	T	0.36496	0.0969	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.12142	-1.0559	10	0.56958	D	0.05	-23.1325	14.0015	0.64436	0.0:0.9283:0.0:0.0717	.	650;640	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	640;650;650;650;650;640;640;601;369;214	ENSP00000333571:G640R;ENSP00000354663:G650R;ENSP00000406934:G650R;ENSP00000412363:G650R;ENSP00000387546:G650R;ENSP00000413060:G640R;ENSP00000410898:G640R;ENSP00000445461:G601R;ENSP00000364460:G214R	ENSP00000333571:G640R	G	-	1	0	ZNF438	31174435	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.174000	0.58256	1.530000	0.49136	0.655000	0.94253	GGT		0.393	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		29	62	0	0	0	1	0	29	62				
HTR3A	3359	broad.mit.edu	37	11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCTTTGTGGCGCTTGCCAGA	0.527																																						ENST00000504030.2																			1	Substitution - Missense(1)	p.R191G(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(571-573)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						195.0	205.0	202.0					11																	113856763		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856763C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.571C>T	11.37:g.113856763C>T	ENSP00000424189:p.Arg191Cys					HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C	p.R191C			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1016	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	191					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.571C>T		.	.	.	.	.	.	.	.	.	.	C	15.83	2.948095	0.53186	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	M	0.62209	1.925	0.80722	D	1	P;D;P	0.69078	0.928;0.997;0.928	P;P;P	0.59056	0.565;0.851;0.565	D	0.86792	0.1986	10	0.66056	D	0.02	-14.1102	13.5593	0.61779	0.1557:0.8443:0.0:0.0	.	176;197;197	B4DSY6;G5E986;Q7KZM7	.;.;.	C	191;197;197;191;176	ENSP00000424189:R191C;ENSP00000347754:R197C;ENSP00000364648:R197C;ENSP00000424776:R191C;ENSP00000299961:R176C	ENSP00000299961:R176C	R	+	1	0	HTR3A	113361973	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	2.731000	0.47343	2.457000	0.83068	0.655000	0.94253	CGC		0.527	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		13	291	0	0	0	1	0	13	291				
PLK1	5347	broad.mit.edu	37	16	23703565	23703565	+	IGR	SNP	G	G	A	rs373315072		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:23703565G>A	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.R678C|ERN2_ENST00000256797.4_Missense_Mutation_p.R778C	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTTGCCTGGCGATAAAGACTG	0.612																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2332-2334)Cgc>Tgc		endoplasmic reticulum to nucleus signaling 2		G	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	88.0	89.0	89.0		2332	5.7	1.0	16		89	0,8600		0,0,4300	no	missense	ERN2	NM_033266.3	180	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	778/975	23703565	1,12993	2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23703565G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703565G>A						ERN2_ENST00000457008.2_Missense_Mutation_p.R678C	p.R778C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	18	2500	-			730			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2332C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889997	0.72524	2.28E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82748	-0.0304	10	0.87932	D	0	.	12.2154	0.54404	0.0:0.0:0.8299:0.1701	.	678;730	E7ETG2;A5YM65	.;.	C	778;678	ENSP00000256797:R778C;ENSP00000413812:R678C	ENSP00000256797:R778C	R	-	1	0	ERN2	23611066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.009000	0.57110	2.655000	0.90218	0.655000	0.94253	CGC		0.612	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		55	77	0	0	0	1	0	55	77				
TP53	7157	broad.mit.edu	37	17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	rs483352695|rs397516437		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000420246.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	CTCCGGTTCATGCCGCCCATG	0.577		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"""		67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	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	CM942294	TP53	M		c.(736-738)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							152.0	113.0	126.0					17																	7577545		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.chr17:7577545T>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.736A>G	17.37:g.7577545T>C	ENSP00000269305:p.Met246Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V	p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	868	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.736A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	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	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	50	0	0	0	1	0	25	50				
ITIH6	347365	broad.mit.edu	37	X	54784549	54784549	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:54784549A>G	ENST00000218436.6	-	8	1987	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	653					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GACCTTGGGCACCAAGGCTGG	0.532																																						ENST00000218436.6																			0											c.(1957-1959)gTg>gCg		inter-alpha-trypsin inhibitor heavy chain family, member 6							76.0	60.0	65.0					X																	54784549		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784549A>G	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1958T>C	X.37:g.54784549A>G	ENSP00000218436:p.Val653Ala						p.V653A	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1987	-			653					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1958T>C	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	A	3.358	-0.131054	0.06753	.	.	ENSG00000102313	ENST00000218436	T	0.02280	4.36	4.12	-0.657	0.11432	.	4.303020	0.01307	U	0.010484	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.45716	-0.9242	10	0.10902	T	0.67	.	5.9754	0.19375	0.5683:0.324:0.1078:0.0	.	653	Q6UXX5	ITH5L_HUMAN	A	653	ENSP00000218436:V653A	ENSP00000218436:V653A	V	-	2	0	ITIH5L	54801274	0.032000	0.19561	0.001000	0.08648	0.259000	0.26198	0.796000	0.26986	-0.057000	0.13199	0.483000	0.47432	GTG		0.532	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		6	69	0	0	0	1	0	6	69				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	33	0	0	0	1	0	30	33				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	13	0	0	0	1	0	10	13				
RGPD3	653489	broad.mit.edu	37	2	107041183	107041183	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:107041183C>T	ENST00000409886.3	-	20	3327	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R	RGPD3_ENST00000304514.7_Silent_p.R1080R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1080	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCCAAGCCCCTTTCTTTCC	0.378																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3238-3240)agG>agA		RANBP2-like and GRIP domain containing 3							6.0	8.0	7.0					2																	107041183		675	1544	2219	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107041183C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3240G>A	2.37:g.107041183C>T						RGPD3_ENST00000304514.7_Silent_p.R1080R	p.R1080R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3327	-			1080			RanBD1 1.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.3240G>A	CCDS46379.1																																																																																				0.378	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		175	268	0	0	0	1	0	175	268				
SMIM19	114926	broad.mit.edu	37	8	42401645	42401645	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:42401645C>T	ENST00000438528.3	+	2	79	c.30C>T	c.(28-30)gaC>gaT	p.D10D	SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000490331.2_Silent_p.D10D|SMIM19_ENST00000417410.2_Silent_p.D10D|SMIM19_ENST00000414154.2_Silent_p.D10D|SMIM19_ENST00000416469.2_Silent_p.D10D	NM_001135676.1	NP_001129148.1	Q96E16	SMI19_HUMAN	small integral membrane protein 19	10						integral component of membrane (GO:0016021)											TGATGGGTGACGATGGTTCTA	0.433																																						ENST00000438528.3																			0											c.(28-30)gaC>gaT		small integral membrane protein 19							185.0	159.0	168.0					8																	42401645		2203	4300	6503	SO:0001819	synonymous_variant	114926							g.chr8:42401645C>T	BC013035	CCDS6133.2	8p11.21	2013-03-08	2013-03-08	2013-03-08	ENSG00000176209	ENSG00000176209			25166	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 40"""	C8orf40		12477932	Standard	NM_001135674		Approved		uc011lcv.2	Q96E16	OTTHUMG00000157060	ENST00000438528.3:c.30C>T	8.37:g.42401645C>T						SMIM19_ENST00000417410.2_Silent_p.D10D|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000416469.2_Silent_p.D10D|SMIM19_ENST00000414154.2_Silent_p.D10D|SMIM19_ENST00000490331.2_Silent_p.D10D	p.D10D	NM_001135676.1	NP_001129148.1					2	79	+								B2R4S6|D3DSY4	Silent	SNP	ENST00000438528.3	37	c.30C>T	CCDS6133.2																																																																																				0.433	SMIM19-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347309.2	NM_138436		42	107	0	0	0	1	0	42	107				
SETD3	84193	broad.mit.edu	37	14	99865219	99865219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr14:99865219C>T	ENST00000331768.5	-	13	1741	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	528					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGCCTCCTCCTCGAGGTTT	0.532																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1582-1584)Gag>Aag		SET domain containing 3							214.0	192.0	200.0					14																	99865219		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865219C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1582G>A	14.37:g.99865219C>T	ENSP00000327436:p.Glu528Lys						p.E528K	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1741	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	528					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1582G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108443	0.77096	.	.	ENSG00000183576	ENST00000331768	T	0.15487	2.42	5.3	5.3	0.74995	.	0.424909	0.26662	N	0.023153	T	0.16811	0.0404	L	0.38175	1.15	0.80722	D	1	B	0.24258	0.1	B	0.15870	0.014	T	0.02901	-1.1096	10	0.34782	T	0.22	-1.4036	18.9741	0.92728	0.0:1.0:0.0:0.0	.	528	Q86TU7	SETD3_HUMAN	K	528	ENSP00000327436:E528K	ENSP00000327436:E528K	E	-	1	0	SETD3	98934972	0.994000	0.37717	0.997000	0.53966	0.955000	0.61496	3.877000	0.56123	2.490000	0.84030	0.655000	0.94253	GAG		0.532	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		69	92	0	0	0	1	0	69	92				
FAM71F2	346653	broad.mit.edu	37	7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A	rs562611087		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(229-231)Gtg>Atg		family with sequence similarity 71, member F2							56.0	57.0	57.0					7																	128315777		1964	4156	6120	SO:0001583	missense	346653							g.chr7:128315777G>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.229G>A	7.37:g.128315777G>A	ENSP00000420140:p.Val77Met					FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M	p.V77M			Q6NXP2	F71F2_HUMAN			2	335	+			77					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.229G>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002714	0.07819	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.36699	2.7;2.7;2.7;2.7;1.24	4.67	-0.317	0.12736	.	0.673556	0.12970	N	0.424223	T	0.19406	0.0466	L	0.28556	0.865	0.09310	N	1	B;B	0.34181	0.422;0.44	B;B	0.21151	0.033;0.015	T	0.09207	-1.0685	10	0.32370	T	0.25	-6.2493	7.8121	0.29237	0.3615:0.0:0.6385:0.0	.	68;77	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	M	68;77;68;68;77	ENSP00000418907:V68M;ENSP00000420140:V77M;ENSP00000367976:V68M;ENSP00000401654:V68M;ENSP00000419649:V77M	ENSP00000367976:V68M	V	+	1	0	FAM71F2	128103013	0.066000	0.20996	0.033000	0.17914	0.699000	0.40488	0.062000	0.14389	-0.162000	0.10964	-0.484000	0.04775	GTG		0.582	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			3	44	0	0	0	1	0	3	44				
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121.0	130.0	127.0					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		5	251	0	0	0	1	0	5	251				
MAMLD1	10046	broad.mit.edu	37	X	149638129	149638129	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:149638129T>A	ENST00000370401.2	+	4	594	c.284T>A	c.(283-285)aTg>aAg	p.M95K	MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	95					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTGCAATGGGCCCAGGT	0.517																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(283-285)aTg>aAg		mastermind-like domain containing 1							115.0	111.0	113.0					X																	149638129		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638129T>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.284T>A	X.37:g.149638129T>A	ENSP00000359428:p.Met95Lys					MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K	p.M95K			Q13495	MAMD1_HUMAN			4	594	+	Acute lymphoblastic leukemia(192;6.56e-05)		95					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.284T>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006818	0.35415	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.70045	0.01;-0.45;0.01;0.0	5.25	5.25	0.73442	.	0.108809	0.64402	D	0.000005	T	0.71584	0.3357	L	0.55481	1.735	0.80722	D	1	D;P;D;P	0.62365	0.991;0.744;0.978;0.744	P;B;P;B	0.53593	0.73;0.275;0.647;0.359	T	0.74447	-0.3662	10	0.59425	D	0.04	-3.9836	13.3445	0.60564	0.0:0.0:0.0:1.0	.	57;70;70;95	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	K	57;95;70;95;95;70	ENSP00000359428:M95K;ENSP00000414517:M70K;ENSP00000262858:M95K;ENSP00000397438:M70K	ENSP00000262858:M95K	M	+	2	0	MAMLD1	149388787	1.000000	0.71417	0.845000	0.33349	0.453000	0.32348	5.921000	0.70028	1.745000	0.51790	0.486000	0.48141	ATG		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		17	133	0	0	0	1	0	17	133				
LOC728323	728323	broad.mit.edu	37	2	243037116	243037116	+	RNA	SNP	T	T	A	rs540310927	byFrequency	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:243037116T>A	ENST00000456398.1	+	0	248																											GCTGGAAGAATTGTGAATCTT	0.398													.|||	6	0.00119808	0.0023	0.0029	5008	,	,		17557	0.0		0.001	False		,,,				2504	0.0					ENST00000456398.1																			0																																																			0							g.chr2:243037116T>A																													2.37:g.243037116T>A														0	248	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.398	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			5	71	0	0	0	1	0	5	71				
ANKRD24	170961	broad.mit.edu	37	19	4202046	4202046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:4202046G>A	ENST00000600132.1	+	6	643	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACCTGGCCGCCAAATACGG	0.522																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(367-369)Gcc>Acc		ankyrin repeat domain 24							107.0	98.0	101.0					19																	4202046		1912	4127	6039	SO:0001583	missense	170961							g.chr19:4202046G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.367G>A	19.37:g.4202046G>A	ENSP00000471252:p.Ala123Thr					ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T	p.A123T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	6	643	+			123					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.367G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830746	0.71258	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Ankyrin repeat-containing domain (4);	0.000000	0.33875	N	0.004464	T	0.80341	0.4605	M	0.64260	1.97	0.36756	D	0.883041	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.946	D	0.84458	0.0592	10	0.72032	D	0.01	-19.2372	11.4128	0.49935	0.0:0.0:0.8196:0.1804	.	123;213	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	123;213	ENSP00000321731:A123T;ENSP00000262970:A213T	ENSP00000262970:A213T	A	+	1	0	ANKRD24	4153046	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	5.544000	0.67231	2.512000	0.84698	0.462000	0.41574	GCC		0.522	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		4	87	0	0	0	1	0	4	87				
OR1A2	26189	broad.mit.edu	37	17	3100860	3100860	+	Silent	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:3100860A>G	ENST00000381951.1	+	1	48	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTCCTGGGAGTTACTAGTC	0.398																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(46-48)ggA>ggG		olfactory receptor, family 1, subfamily A, member 2							129.0	122.0	124.0					17																	3100860		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3100860A>G	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.48A>G	17.37:g.3100860A>G							p.G16G	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	48	+			16					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.48A>G	CCDS11021.1																																																																																				0.398	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		52	62	0	0	0	1	0	52	62				
KIAA0753	9851	broad.mit.edu	37	17	6526324	6526324	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:6526324G>C	ENST00000361413.3	-	6	1340	c.982C>G	c.(982-984)Cca>Gca	p.P328A	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	328						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCAGGAAGTGGATGCTCCCCT	0.522																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(982-984)Cca>Gca		KIAA0753							73.0	70.0	71.0					17																	6526324		1923	4130	6053	SO:0001583	missense	9851					centrosome		g.chr17:6526324G>C		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.982C>G	17.37:g.6526324G>C	ENSP00000355250:p.Pro328Ala					KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A	p.P328A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	6	1340	-			328					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.982C>G	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.671821	0.00758	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.08546	3.08;3.08	5.7	3.53	0.40419	.	0.478331	0.22595	N	0.058027	T	0.07954	0.0199	L	0.46157	1.445	0.09310	N	0.999999	B	0.17268	0.021	B	0.15484	0.013	T	0.37384	-0.9708	10	0.06236	T	0.91	-3.665	14.6731	0.68958	0.0:0.3259:0.674:0.0	.	328	Q2KHM9	K0753_HUMAN	A	328;29	ENSP00000355250:P328A;ENSP00000444634:P29A	ENSP00000355250:P328A	P	-	1	0	KIAA0753	6467048	0.142000	0.22610	0.712000	0.30502	0.077000	0.17291	1.753000	0.38359	1.569000	0.49696	0.650000	0.86243	CCA		0.522	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		4	61	0	0	0	1	0	4	61				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	45	0	0	0	1	0	4	45				
GLP1R	2740	broad.mit.edu	37	6	39046913	39046913	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:39046913T>C	ENST00000373256.4	+	10	1023	c.980T>C	c.(979-981)gTc>gCc	p.V327A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	327					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TTTGTTCGGGTCATCTGCATC	0.557																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(979-981)gTc>gCc		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						139.0	136.0	137.0					6																	39046913		2203	4300	6503	SO:0001583	missense	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39046913T>C		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.980T>C	6.37:g.39046913T>C	ENSP00000362353:p.Val327Ala						p.V327A	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			10	1023	+			327					Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.980T>C	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778289	0.90195	.	.	ENSG00000112164	ENST00000373256	T	0.51574	0.7	5.15	5.15	0.70609	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000018	T	0.55465	0.1922	M	0.73217	2.22	0.47778	D	0.999518	P	0.46578	0.88	P	0.56960	0.81	T	0.62348	-0.6873	10	0.87932	D	0	.	14.9711	0.71235	0.0:0.0:0.0:1.0	.	327	P43220	GLP1R_HUMAN	A	327	ENSP00000362353:V327A	ENSP00000362353:V327A	V	+	2	0	GLP1R	39154891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.154000	0.71826	1.946000	0.56461	0.459000	0.35465	GTC		0.557	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			4	158	0	0	0	1	0	4	158				
DPYSL4	10570	broad.mit.edu	37	10	134021578	134021578	+	IGR	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:134021578T>C	ENST00000338492.4	+	0	2729				STK32C_ENST00000368625.4_Missense_Mutation_p.D479G|STK32C_ENST00000368622.1_Missense_Mutation_p.D349G	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTCCGCCTCGTCCTCCACAGG	0.706																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(1045-1047)gAc>gGc		serine/threonine kinase 32C							34.0	36.0	36.0					10																	134021578		2194	4298	6492	SO:0001628	intergenic_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134021578T>C	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283		10.37:g.134021578T>C						STK32C_ENST00000368625.4_Missense_Mutation_p.D479G	p.D349G			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	12	1427	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	466			Protein kinase.		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1046A>G	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387489	0.42308	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.68479	-0.33;-0.19;-0.26	4.81	4.81	0.61882	.	1.427760	0.05032	U	0.474717	T	0.61813	0.2377	L	0.36672	1.1	0.09310	N	1	B;B;P	0.48162	0.003;0.329;0.906	B;B;B	0.43386	0.003;0.065;0.418	T	0.49437	-0.8940	10	0.25751	T	0.34	.	10.7907	0.46432	0.0:0.0:0.0:1.0	.	479;466;349	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	G	349;466;479	ENSP00000357611:D349G;ENSP00000298630:D466G;ENSP00000357614:D479G	ENSP00000298630:D466G	D	-	2	0	STK32C	133871568	0.810000	0.29049	0.038000	0.18304	0.119000	0.20118	1.306000	0.33505	1.806000	0.52798	0.397000	0.26171	GAC		0.706	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			3	30	0	0	0	1	0	3	30				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	58	0	0	0	1	0	5	58				
ESYT3	83850	broad.mit.edu	37	3	138192428	138192428	+	Missense_Mutation	SNP	G	G	A	rs369262503		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:138192428G>A	ENST00000389567.4	+	19	2474	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	763	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCACAGTGCGCTATGTGTGT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18081	0.0		0.0	False		,,,				2504	0.001					ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2287-2289)cGc>cAc		extended synaptotagmin-like protein 3		G	HIS/ARG	1,4159		0,1,2079	102.0	110.0	107.0		2288	4.8	1.0	3		107	0,8426		0,0,4213	no	missense	ESYT3	NM_031913.3	29	0,1,6292	AA,AG,GG		0.0,0.024,0.0079	probably-damaging	763/887	138192428	1,12585	2080	4213	6293	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138192428G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2288G>A	3.37:g.138192428G>A	ENSP00000374218:p.Arg763His					ESYT3_ENST00000460133.1_3'UTR	p.R763H	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			19	2474	+			763			C2 3.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2288G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964455	0.92791	2.4E-4	0.0	ENSG00000158220	ENST00000389567	T	0.08634	3.07	5.66	4.77	0.60923	C2 calcium/lipid-binding domain, CaLB (1);	0.074664	0.53938	D	0.000043	T	0.09423	0.0232	M	0.69358	2.11	0.80722	D	1	P	0.37207	0.587	B	0.22152	0.038	T	0.03784	-1.1004	10	0.54805	T	0.06	-15.6985	12.8763	0.57991	0.0812:0.0:0.9188:0.0	.	763	A0FGR9	ESYT3_HUMAN	H	763	ENSP00000374218:R763H	ENSP00000374218:R763H	R	+	2	0	ESYT3	139675118	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.234000	0.65343	2.665000	0.90641	0.650000	0.86243	CGC		0.562	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		62	93	0	0	0	1	0	62	93				
TTN	7273	broad.mit.edu	37	2	179443923	179443923	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:179443923C>T	ENST00000591111.1	-	270	63135	c.62911G>A	c.(62911-62913)Gat>Aat	p.D20971N	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22612N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20971	Ig-like 112.				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)			TTTTGGCAATCGTACACTATA	0.443																																						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.(67834-67836)Gat>Aat		titin							130.0	126.0	127.0					2																	179443923		1935	4123	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443923C>T	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.62911G>A	2.37:g.179443923C>T	ENSP00000465570:p.Asp20971Asn					TTN_ENST00000591111.1_Missense_Mutation_p.D20971N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N	p.D22612N	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)		320	68058	-			20971			Fibronectin type-III 64.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.67834G>A		.	.	.	.	.	.	.	.	.	.	C	16.87	3.242397	0.58995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53818	0.1820	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.57625	-0.7779	9	0.87932	D	0	.	20.4293	0.99080	0.0:1.0:0.0:0.0	.	13547;13672;13739;20971	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20044;13547;13739;13672;13545	ENSP00000343764:D20044N;ENSP00000434586:D13547N;ENSP00000340554:D13739N;ENSP00000352154:D13672N	ENSP00000340554:D13739N	D	-	1	0	TTN	179152169	1.000000	0.71417	0.755000	0.31263	0.956000	0.61745	7.770000	0.85390	2.833000	0.97629	0.655000	0.94253	GAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	50	0	0	0	1	0	38	50				
LOC728323	728323	broad.mit.edu	37	2	243037115	243037115	+	RNA	SNP	A	A	G	rs573201469	byFrequency	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:243037115A>G	ENST00000456398.1	+	0	247																											GGCTGGAAGAATTGTGAATCT	0.398													.|||	6	0.00119808	0.0023	0.0029	5008	,	,		17993	0.0		0.001	False		,,,				2504	0.0					ENST00000456398.1																			0																																																			0							g.chr2:243037115A>G																													2.37:g.243037115A>G														0	247	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.398	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			5	72	0	0	0	1	0	5	72				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	27	0	0	0	1	0	3	27				
IL9R	3581	broad.mit.edu	37	X	155234153	155234153	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:155234153A>G	ENST00000244174.5	+	5	681	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	IL9R_ENST00000424344.3_Missense_Mutation_p.I147V|IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	168	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCTGGAGCATCAGTCCTGC	0.547																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(439-441)Atc>Gtc		interleukin 9 receptor							129.0	109.0	116.0					X																	155234153		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155234153A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.502A>G	X.37:g.155234153A>G	ENSP00000244174:p.Ile168Val					IL9R_ENST00000244174.5_Missense_Mutation_p.I168V|IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V	p.I147V			Q01113	IL9R_HUMAN			6	806	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		168					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.439A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	7.599	0.672310	0.14776	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	1.44	-2.88	0.05682	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.976863	0.08410	N	0.950095	T	0.57770	0.2076	.	.	.	0.09310	N	1	B;B;P	0.46327	0.013;0.017;0.876	B;B;P	0.61800	0.01;0.008;0.894	T	0.46721	-0.9171	9	0.02654	T	1	-21.3837	3.102	0.06329	0.326:0.2624:0.4116:0.0	.	147;168;203	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	V	168;147;147;203;193	ENSP00000244174:I168V;ENSP00000388918:I147V;ENSP00000358431:I203V;ENSP00000438112:I193V	ENSP00000244174:I168V	I	+	1	0	IL9R	154887347	0.000000	0.05858	0.017000	0.16124	0.755000	0.42902	-0.779000	0.04659	-1.137000	0.02888	0.238000	0.17879	ATC		0.547	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		10	72	0	0	0	1	0	10	72				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	59	0	0	0	1	0	5	59				
ZCWPW2	152098	broad.mit.edu	37	3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A	rs527953274		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:28566121G>A	ENST00000383768.2	+	10	1201	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	338							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13528	0.0		0.0	False		,,,				2504	0.0					ENST00000383768.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						c.(1012-1014)tGt>tAt		zinc finger, CW type with PWWP domain 2							61.0	70.0	67.0					3																	28566121		2199	4298	6497	SO:0001583	missense	152098						zinc ion binding	g.chr3:28566121G>A	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.1013G>A	3.37:g.28566121G>A	ENSP00000373278:p.Cys338Tyr					ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y	p.C338Y			Q504Y3	ZCPW2_HUMAN			10	1201	+			338						Missense_Mutation	SNP	ENST00000383768.2	37	c.1013G>A	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.265730|3.265730	0.59540|0.59540	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	T;T|.	0.51071|.	0.72;0.72|.	6.03|6.03	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.40670|0.40670	0.1126|0.1126	L|L	0.34521|0.34521	1.04|1.04	0.32374|0.32374	N|N	0.55549|0.55549	B|.	0.17465|.	0.022|.	B|.	0.14578|.	0.011|.	T|T	0.47018|0.47018	-0.9149|-0.9149	10|5	0.87932|.	D|.	0|.	-18.8087|-18.8087	9.7617|9.7617	0.40537|0.40537	0.2195:0.0:0.7805:0.0|0.2195:0.0:0.7805:0.0	.|.	338|.	Q504Y3|.	ZCPW2_HUMAN|.	Y|I	338|222	ENSP00000373278:C338Y;ENSP00000412386:C338Y|.	ENSP00000373278:C338Y|.	C|M	+|+	2|3	0|0	ZCWPW2|ZCWPW2	28541125|28541125	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	2.944000|2.944000	0.49034|0.49034	0.436000|0.436000	0.26393|0.26393	-0.123000|-0.123000	0.14984|0.14984	TGT|ATG		0.303	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		8	56	0	0	0	1	0	8	56				
ATRX	546	broad.mit.edu	37	X	76939235	76939235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:76939235C>A	ENST00000373344.5	-	9	1727	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	505					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGGCAGGTTCATATTGAGGT	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1513-1515)Gaa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						201.0	203.0	202.0					X																	76939235		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939235C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1513G>T	X.37:g.76939235C>A	ENSP00000362441:p.Glu505*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*	p.E505*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1727	-			505					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1513G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	39	7.500174	0.98322	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.02	5.02	0.67125	.	0.166784	0.39687	U	0.001296	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.6407	17.6011	0.88025	0.0:1.0:0.0:0.0	.	.	.	.	X	505;467;461	.	ENSP00000362441:E505X	E	-	1	0	ATRX	76825891	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.257000	0.78362	2.085000	0.62840	0.496000	0.49642	GAA		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		112	172	1	0	1.45418e-49	1	1.53807e-49	112	172				
ZNF215	7762	broad.mit.edu	37	11	6977476	6977476	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:6977476C>T	ENST00000278319.5	+	7	1856	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	423					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACAAACCTTACTAAGCATCAA	0.408																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1267-1269)aCt>aTt		zinc finger protein 215							80.0	78.0	78.0					11																	6977476		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977476C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1268C>T	11.37:g.6977476C>T	ENSP00000278319:p.Thr423Ile					ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I|ZNF215_ENST00000529903.1_Intron	p.T423I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1856	+			423					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1268C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	8.073	0.770679	0.15983	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.60299	0.2;0.2	4.85	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.822427	0.10475	N	0.670347	T	0.27832	0.0685	N	0.12746	0.255	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.19386	-1.0307	10	0.11485	T	0.65	0.6941	1.3047	0.02086	0.2617:0.3913:0.1159:0.2311	.	423	Q9UL58	ZN215_HUMAN	I	423	ENSP00000278319:T423I;ENSP00000393202:T423I	ENSP00000278319:T423I	T	+	2	0	ZNF215	6934052	0.000000	0.05858	0.319000	0.25293	0.500000	0.33767	-3.426000	0.00475	-0.213000	0.10094	-0.140000	0.14226	ACT		0.408	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			7	31	0	0	0	1	0	7	31				
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	9						7	9	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829342	146829342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:146829342delT	ENST00000361727.3	+	8	1605	c.1089delT	c.(1087-1089)aatfs	p.N363fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	363	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGGGAAATTTGAGCTTTT	0.428										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1087-1089)aafs		contactin associated protein-like 2							106.0	107.0	107.0					7																	146829342		2203	4300	6503	SO:0001589	frameshift_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829342delT	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1089delT	7.37:g.146829342delT	ENSP00000354778:p.Asn363fs	HNSCC(39;0.1)					p.N363fs	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1605	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	363			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Frame_Shift_Del	DEL	ENST00000361727.3	37	c.1089delT	CCDS5889.1																																																																																				0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			64	54						64	54	---	---	---	---
