#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
KRTAP9-2	83899	broad.mit.edu	37	17	39383026	39383026	+	Silent	SNP	C	C	T	rs527833476		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39383026C>T	ENST00000377721.3	+	1	127	c.120C>T	c.(118-120)ccC>ccT	p.P40P	KRTAP9-2_ENST00000455970.2_Silent_p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	40	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCCAGCCCGCCTGCTGTG	0.637													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21774	0.0		0.0	False		,,,				2504	0.0					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)ccC>ccT		keratin associated protein 9-2							58.0	52.0	54.0					17																	39383026		2203	4300	6503	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383026C>T	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.120C>T	17.37:g.39383026C>T						KRTAP9-2_ENST00000455970.2_Silent_p.P40P	p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	127	+		Breast(137;0.000496)	40			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.120C>T	CCDS32651.1																																																																																				0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			10	183	0	0	0	0.010729	0	10	183				
GGT3P	2679	broad.mit.edu	37	22	18778640	18778640	+	RNA	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr22:18778640T>C	ENST00000412448.1	-	0	765							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GGTTGTCAGGTTCCTTGGAGG	0.632																																						ENST00000412448.1																			0																																																			0							g.chr22:18778640T>C			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778640T>C														0	765	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.632	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	35	0	0	0	0.014758	0	3	35				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	56	1	0	0.0215528	0.021553	0.0227074	4	56				
ZMYND8	23613	broad.mit.edu	37	20	45927599	45927599	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr20:45927599G>C	ENST00000311275.7	-	4	520	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	89					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCCAGCAGTAGAAATCATTCC	0.502																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(265-267)ttC>ttG		zinc finger, MYND-type containing 8							146.0	130.0	135.0					20																	45927599		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45927599G>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.267C>G	20.37:g.45927599G>C	ENSP00000312237:p.Phe89Leu					ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L	p.F89L			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		4	520	-			89					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.267C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.076852|5.076852	0.94000|0.94000	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04|.	6.11|6.11	6.11|6.11	0.99139|0.99139	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65923|0.65923	0.2738|0.2738	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;D;D;D;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.76494|.	0.865;0.917;0.997;0.997;0.959;0.998;0.841;0.999;0.917;0.756;0.999;0.998;0.997;0.997;0.962;0.998;0.865;0.865|.	P;P;D;D;P;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.87578|.	0.745;0.87;0.989;0.995;0.766;0.995;0.805;0.998;0.87;0.805;0.998;0.989;0.995;0.995;0.935;0.987;0.745;0.745|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.37606|.	T|.	0.19|.	-15.8642|-15.8642	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	84;116;84;84;109;83;109;89;84;109;109;89;64;84;84;109;84;89|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	L|V	84;89;84;89;109;109;89;116;89;64;109;84;84;64|16	ENSP00000354166:F84L;ENSP00000312237:F89L;ENSP00000392964:F84L;ENSP00000262975:F89L;ENSP00000420095:F109L;ENSP00000335537:F109L;ENSP00000379577:F89L;ENSP00000439800:F116L;ENSP00000348246:F89L;ENSP00000396725:F64L;ENSP00000418210:F109L;ENSP00000361093:F84L;ENSP00000443086:F84L;ENSP00000413727:F64L|.	ENSP00000262975:F89L|.	F|L	-|-	3|1	2|2	ZMYND8|ZMYND8	45361006|45361006	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	TTC|CTA		0.502	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	85	0	0	0	0.009096	0	4	85				
NLRC5	84166	broad.mit.edu	37	16	57101678	57101678	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:57101678T>A	ENST00000262510.6	+	36	4662	c.4437T>A	c.(4435-4437)gaT>gaA	p.D1479E	NLRC5_ENST00000436936.1_Missense_Mutation_p.D1479E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1479					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGAGGACGATGATGCCAGTT	0.507																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4435-4437)gaT>gaA		NLR family, CARD domain containing 5							175.0	151.0	159.0					16																	57101678		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57101678T>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4437T>A	16.37:g.57101678T>A	ENSP00000262510:p.Asp1479Glu					NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E	p.D1479E			Q86WI3	NLRC5_HUMAN			36	4662	+		all_neural(199;0.225)	1479					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4437T>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.077564	0.00375	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.54675	2.25;2.25;0.56;2.25	1.91	-3.46	0.04767	.	.	.	.	.	T	0.37404	0.1002	L	0.49126	1.545	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.24584	-1.0156	9	0.33940	T	0.23	.	2.7038	0.05156	0.2118:0.3867:0.0:0.4015	.	1479	Q86WI3	NLRC5_HUMAN	E	1479;1450;1479;1450	ENSP00000262510:D1479E;ENSP00000308886:D1450E;ENSP00000389739:D1479E;ENSP00000441727:D1450E	ENSP00000262510:D1479E	D	+	3	2	NLRC5	55659179	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.355000	0.07671	-0.919000	0.03803	-0.732000	0.03574	GAT		0.507	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	159	0	0	0	0.009096	0	4	159				
ZBTB40	9923	broad.mit.edu	37	1	22828886	22828886	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:22828886G>T	ENST00000375647.4	+	5	1326	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E373D	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	373					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATTATGGAGTCCCTGGAAA	0.473																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1117-1119)gaG>gaT		zinc finger and BTB domain containing 40							116.0	104.0	108.0					1																	22828886		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828886G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1119G>T	1.37:g.22828886G>T	ENSP00000364798:p.Glu373Asp					ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D	p.E373D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	6	1630	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	373					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1119G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449938	0.63290	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	T;T;T	0.45276	2.37;2.37;0.9	5.8	4.88	0.63580	.	0.000000	0.52532	D	0.000064	T	0.53642	0.1809	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.54754	-0.8246	10	0.87932	D	0	-23.5839	13.9187	0.63916	0.0746:0.0:0.9254:0.0	.	373	Q9NUA8	ZBT40_HUMAN	D	373	ENSP00000384527:E373D;ENSP00000364798:E373D;ENSP00000383098:E373D	ENSP00000364798:E373D	E	+	3	2	ZBTB40	22701473	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.363000	0.44178	2.758000	0.94735	0.561000	0.74099	GAG		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		6	122	1	0	0.00116845	0.021553	0.00130072	6	122				
TTN	7273	broad.mit.edu	37	2	179584977	179584977	+	Missense_Mutation	SNP	C	C	T	rs144032104		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:179584977C>T	ENST00000591111.1	-	79	22665	c.22441G>A	c.(22441-22443)Gtg>Atg	p.V7481M	TTN_ENST00000589042.1_Missense_Mutation_p.V7798M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V6554M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13037	Ig-like 57.				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)			AGCTTTTTCACGAATCGTGGA	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19982	0.0		0.0	False		,,,				2504	0.0					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.(23392-23394)Gtg>Atg		titin		C	MET/VAL,,,	1,3727		0,1,1863	96.0	89.0	91.0		19660,,,	5.0	1.0	2	dbSNP_134	91	1,8211		0,1,4105	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	21,,,	0,2,5968	TT,TC,CC		0.0122,0.0268,0.0168	probably-damaging,,,	6554/33424,,,	179584977	2,11938	1864	4106	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584977C>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.22441G>A	2.37:g.179584977C>T	ENSP00000465570:p.Val7481Met					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6554M|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7481M	p.V7798M	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)		81	23616	-			7481			Ig-like 60.		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.23392G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.944	0.966529	0.18659	2.68E-4	1.22E-4	ENSG00000155657	ENST00000342992	T	0.44083	0.93	5.91	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58163	0.2103	M	0.75615	2.305	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	T	0.64283	-0.6444	9	0.87932	D	0	.	13.2729	0.60172	0.0:0.8683:0.0:0.1317	.	7481	Q8WZ42	TITIN_HUMAN	M	6554	ENSP00000343764:V6554M	ENSP00000343764:V6554M	V	-	1	0	TTN	179293222	0.917000	0.31117	1.000000	0.80357	0.980000	0.70556	0.756000	0.26419	1.510000	0.48803	-0.133000	0.14855	GTG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	67	0	0	0	0.014758	0	4	67				
SPATC1	375686	broad.mit.edu	37	8	145094892	145094892	+	Silent	SNP	C	C	T	rs151043400		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:145094892C>T	ENST00000377470.3	+	2	396	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SPATC1_ENST00000447830.2_Silent_p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	98						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTGGCCGAGATGCTAA	0.637																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gcC>gcT		spermatogenesis and centriole associated 1		C	,	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		294,294	0.5	0.9	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPATC1	NM_001134374.1,NM_198572.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	98/442,98/592	145094892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094892C>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.294C>T	8.37:g.145094892C>T						SPATC1_ENST00000447830.2_Silent_p.A98A	p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	396	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		98					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.294C>T	CCDS6413.2																																																																																				0.637	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		4	129	0	0	0	0.014758	0	4	129				
GOLGA6L10	647042	broad.mit.edu	37	15	82635163	82635163	+	Silent	SNP	C	C	G	rs28429808	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr15:82635163C>G	ENST00000439287.4	-	9	1506	c.1407G>C	c.(1405-1407)gcG>gcC	p.A469A		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10	469								p.A469A(10)		endometrium(1)|kidney(4)	5						CCCTGTTCTCCGCAGCCCGAA	0.478																																						ENST00000439287.4																			10	Substitution - coding silent(10)	p.A469A(10)	kidney(8)|endometrium(2)	endometrium(1)|kidney(4)	5						c.(1405-1407)gcG>gcC																																						SO:0001819	synonymous_variant	0							g.chr15:82635163C>G		CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580	ENST00000439287.4:c.1407G>C	15.37:g.82635163C>G							p.A469A	NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN			9	1506	-			469						Silent	SNP	ENST00000439287.4	37	c.1407G>C	CCDS45325.1																																																																																				0.478	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419403.2	NM_001164465		3	14	0	0	0	0.004672	0	3	14				
CBX4	8535	broad.mit.edu	37	17	77807801	77807801	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:77807801G>A	ENST00000269397.4	-	5	1817	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	547	Interaction with RNF2.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGGCAGTTCGCGGTGACGTC	0.622																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1639-1641)gCg>gTg		chromobox homolog 4							53.0	59.0	57.0					17																	77807801		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77807801G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1640C>T	17.37:g.77807801G>A	ENSP00000269397:p.Ala547Val						p.A547V	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1817	-			547			Interaction with RNF2.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.1640C>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583456	0.86748	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.16	3.16	0.36331	.	0.890365	0.09588	U	0.781849	T	0.52917	0.1764	L	0.38175	1.15	0.80722	D	1	D	0.61080	0.989	P	0.49799	0.622	T	0.56517	-0.7966	9	0.72032	D	0.01	-40.157	13.0469	0.58931	0.0:0.0:1.0:0.0	.	547	O00257	CBX4_HUMAN	V	547;277	.	ENSP00000269397:A547V	A	-	2	0	CBX4	75422396	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.757000	0.91657	1.796000	0.52611	0.299000	0.19835	GCG		0.622	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		7	141	0	0	0	0.004482	0	7	141				
PRPF19	27339	broad.mit.edu	37	11	60668386	60668386	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:60668386T>C	ENST00000227524.4	-	9	863	c.658A>G	c.(658-660)Agc>Ggc	p.S220G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGGAATGCTGGCACTGTGC	0.607																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(658-660)Agc>Ggc		pre-mRNA processing factor 19							63.0	58.0	60.0					11																	60668386		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60668386T>C	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.658A>G	11.37:g.60668386T>C	ENSP00000227524:p.Ser220Gly						p.S220G	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			9	863	-			220						Missense_Mutation	SNP	ENST00000227524.4	37	c.658A>G	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333552	0.60853	.	.	ENSG00000110107	ENST00000227524;ENST00000541371	T	0.62498	0.02	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.75085	2.285	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	T	0.61946	-0.6958	10	0.45353	T	0.12	-26.1376	15.5939	0.76562	0.0:0.0:0.0:1.0	.	220	Q9UMS4	PRP19_HUMAN	G	220	ENSP00000227524:S220G	ENSP00000227524:S220G	S	-	1	0	PRPF19	60424962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.687000	0.84139	2.164000	0.68074	0.533000	0.62120	AGC		0.607	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		8	79	0	0	0	0.004482	0	8	79				
NCL	4691	broad.mit.edu	37	2	232320221	232320221	+	Silent	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:232320221A>G	ENST00000322723.4	-	13	2187	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	649	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGCCACCTTCACCCTTAGGTT	0.577																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1945-1947)ggT>ggC		nucleolin							205.0	217.0	213.0					2																	232320221		2203	4300	6503	SO:0001819	synonymous_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320221A>G		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1947T>C	2.37:g.232320221A>G							p.G649G	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	13	2187	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	649			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	c.1947T>C	CCDS33397.1																																																																																				0.577	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		39	413	0	0	0	0.023175	0	39	413				
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39296431A>G	ENST00000345847.4	-	1	308	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	103	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(307-309)acT>acC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296431A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.309T>C	17.37:g.39296431A>G							p.T103T	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	308	-			99			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.309T>C	CCDS54125.1																																																																																				0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	93	0	0	0	0.006214	0	5	93				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		6	20	0	0	0	0.021553	0	6	20				
MECOM	2122	broad.mit.edu	37	3	168807797	168807797	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:168807797G>T	ENST00000464456.1	-	13	4001	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y	MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCACTGGGGATGTCTTGCA	0.428																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2800-2802)tCc>tAc		MDS1 and EVI1 complex locus							182.0	172.0	175.0					3																	168807797		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807797G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2801C>A	3.37:g.168807797G>T	ENSP00000419770:p.Ser934Tyr					MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y	p.S934Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	4001	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2801C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571215	0.45798	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06294	3.37;3.37;3.32;3.47;3.32;3.37;3.33;3.47	5.46	5.46	0.80206	.	0.354215	0.25425	N	0.030763	T	0.18923	0.0454	L	0.36672	1.1	0.54753	D	0.999985	D;D;P;D;D	0.76494	0.999;0.999;0.86;0.999;0.999	D;D;B;D;D	0.73380	0.952;0.98;0.196;0.964;0.956	T	0.00478	-1.1715	10	0.87932	D	0	-9.6655	19.3056	0.94161	0.0:0.0:1.0:0.0	.	1131;935;1122;1008;943	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Y	1008;943;934;944;1122;943;934;944	ENSP00000264674:S1008Y;ENSP00000376493:S943Y;ENSP00000419770:S934Y;ENSP00000420048:S944Y;ENSP00000417899:S1122Y;ENSP00000419995:S943Y;ENSP00000420466:S934Y;ENSP00000394302:S944Y	ENSP00000264674:S1008Y	S	-	2	0	MECOM	170290491	1.000000	0.71417	0.617000	0.29091	0.060000	0.15804	7.938000	0.87678	2.565000	0.86533	0.650000	0.86243	TCC		0.428	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		5	122	1	0	0.0215528	0.021553	0.0227074	5	122				
AHNAK2	113146	broad.mit.edu	37	14	105419654	105419654	+	Missense_Mutation	SNP	G	G	A	rs150847607	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr14:105419654G>A	ENST00000333244.5	-	7	2253	c.2134C>T	c.(2134-2136)Ctc>Ttc	p.L712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	712						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCATGGAGAGGAGGCTCACG	0.617													G|||	5	0.000998403	0.003	0.0	5008	,	,		18896	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2134-2136)Ctc>Ttc		AHNAK nucleoprotein 2							129.0	139.0	136.0					14																	105419654		1986	4159	6145	SO:0001583	missense	113146					nucleus		g.chr14:105419654G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2134C>T	14.37:g.105419654G>A	ENSP00000353114:p.Leu712Phe					AHNAK2_ENST00000557457.1_Intron	p.L712F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2253	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	712					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2134C>T	CCDS45177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	11.89	1.773738	0.31411	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	2.77	1.82	0.25136	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B	0.31026	0.304	B	0.18263	0.021	T	0.43925	-0.9361	9	0.11485	T	0.65	-0.5972	8.8173	0.35004	0.1275:0.0:0.8725:0.0	.	712	Q8IVF2	AHNK2_HUMAN	F	712	ENSP00000353114:L712F	ENSP00000353114:L712F	L	-	1	0	AHNAK2	104490699	0.205000	0.23458	0.019000	0.16419	0.007000	0.05969	2.721000	0.47260	1.087000	0.41251	0.556000	0.70494	CTC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	328	0	0	0	0.021553	0	5	328				
NTRK1	4914	broad.mit.edu	37	1	156845394	156845394	+	Silent	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:156845394C>T	ENST00000524377.1	+	12	1478	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	NTRK1_ENST00000358660.3_Silent_p.T473T|NTRK1_ENST00000392302.2_Silent_p.T443T|NTRK1_ENST00000368196.3_Silent_p.T473T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	479	Interaction with SQSTM1. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGTCCCCCACCGAGGGCAAAG	0.607			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1417-1419)acC>acT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						84.0	74.0	77.0					1																	156845394		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845394C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1437C>T	1.37:g.156845394C>T		TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Silent_p.T443T|NTRK1_ENST00000524377.1_Silent_p.T479T|NTRK1_ENST00000358660.3_Silent_p.T473T	p.T473T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			11	1539	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		479			Interaction with SQSTM1 (By similarity).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1419C>T	CCDS1161.1																																																																																				0.607	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		6	97	0	0	0	0.021553	0	6	97				
LILRA5	353514	broad.mit.edu	37	19	54822827	54822827	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:54822827G>A	ENST00000301219.3	-	5	688	c.569C>T	c.(568-570)aCc>aTc	p.T190I	LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	190	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCACTGGGGGTCAGCTGTGA	0.597																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(568-570)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							54.0	55.0	55.0					19																	54822827		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822827G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.569C>T	19.37:g.54822827G>A	ENSP00000301219:p.Thr190Ile					LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I	p.T190I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	688	-	Ovarian(34;0.19)		190			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.569C>T	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293291	0.10567	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03004	4.08;4.08;4.08;4.08	3.14	-6.28	0.02020	Immunoglobulin-like fold (1);	8.951160	0.00754	U	0.001087	T	0.01940	0.0061	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.19200	0.021;0.008;0.034;0.001	B;B;B;B	0.21151	0.033;0.017;0.009;0.006	T	0.42120	-0.9470	10	0.21540	T	0.41	.	2.5786	0.04813	0.2525:0.1138:0.4784:0.1553	.	178;190;178;190	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	I	190;178;178;190	ENSP00000301219:T190I;ENSP00000302948:T178I;ENSP00000389499:T178I;ENSP00000404236:T190I	ENSP00000301219:T190I	T	-	2	0	LILRA5	59514639	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.454000	0.00231	-1.559000	0.01688	0.205000	0.17691	ACC		0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		4	71	0	0	0	0.009096	0	4	71				
SFRP2	6423	broad.mit.edu	37	4	154709577	154709577	+	Silent	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr4:154709577G>A	ENST00000274063.4	-	1	695	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGCATGTCGGGCCAGGGGA	0.637																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(409-411)ccC>ccT		secreted frizzled-related protein 2							80.0	85.0	83.0					4																	154709577		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709577G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.411C>T	4.37:g.154709577G>A							p.P137P	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	695	-	all_hematologic(180;0.093)	Renal(120;0.117)	137			FZ.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.411C>T	CCDS34082.1																																																																																				0.637	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			8	162	0	0	0	0.004482	0	8	162				
GPR171	29909	broad.mit.edu	37	3	150917004	150917004	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:150917004A>C	ENST00000309180.5	-	3	400	c.170T>G	c.(169-171)cTt>cGt	p.L57R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	57					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCGGCTGTAAGCAAATTAAT	0.403																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(169-171)cTt>cGt		G protein-coupled receptor 171							84.0	82.0	82.0					3																	150917004		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150917004A>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.170T>G	3.37:g.150917004A>C	ENSP00000308479:p.Leu57Arg					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.L57R	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	400	-			57					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.170T>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509565	0.44660	.	.	ENSG00000174946	ENST00000309180	T	0.37752	1.18	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.53578	0.1805	L	0.46157	1.445	0.41667	D	0.989211	D	0.76494	0.999	D	0.77557	0.99	T	0.57476	-0.7805	10	0.87932	D	0	-14.5616	15.2186	0.73292	1.0:0.0:0.0:0.0	.	57	O14626	GP171_HUMAN	R	57	ENSP00000308479:L57R	ENSP00000308479:L57R	L	-	2	0	GPR171	152399694	1.000000	0.71417	0.674000	0.29902	0.295000	0.27426	6.607000	0.74163	1.997000	0.58415	0.533000	0.62120	CTT		0.403	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		4	124	0	0	0	0.009096	0	4	124				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	61	0	0	0	0.021553	0	4	61				
SBSN	374897	broad.mit.edu	37	19	36018502	36018502	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:36018502T>C	ENST00000452271.2	-	1	710	c.682A>G	c.(682-684)Atc>Gtc	p.I228V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	228	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATGGTGGATCCCCTGGCCA	0.632																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(682-684)Atc>Gtc		suprabasin							65.0	67.0	66.0					19																	36018502		692	1591	2283	SO:0001583	missense	374897					extracellular region		g.chr19:36018502T>C	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.682A>G	19.37:g.36018502T>C	ENSP00000430242:p.Ile228Val					SBSN_ENST00000518157.1_Intron	p.I228V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	710	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		101					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.682A>G	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.684891	0.00745	.	.	ENSG00000189001	ENST00000452271	T	0.37235	1.21	4.63	-3.53	0.04667	.	.	.	.	.	T	0.09468	0.0233	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	9	0.26408	T	0.33	.	6.4485	0.21890	0.0:0.42:0.1228:0.4572	.	228	E9PBV3	.	V	228	ENSP00000430242:I228V	ENSP00000430242:I228V	I	-	1	0	SBSN	40710342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.733000	0.01850	-0.937000	0.03719	-2.320000	0.00252	ATC		0.632	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		3	13	0	0	0	0.009096	0	3	13				
AADACL4	343066	broad.mit.edu	37	1	12726318	12726318	+	Missense_Mutation	SNP	G	G	A	rs139261871		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:12726318G>A	ENST00000376221.1	+	4	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A266T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTGGCGTGACGCCATCTTGAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19682	0.0		0.001	False		,,,				2504	0.0					ENST00000376221.1																			2	Substitution - Missense(2)	p.A266T(2)	large_intestine(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(796-798)Gcc>Acc		arylacetamide deacetylase-like 4		G	THR/ALA	0,4406		0,0,2203	137.0	134.0	135.0		796	2.4	0.0	1	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/408	12726318	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726318G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.796G>A	1.37:g.12726318G>A	ENSP00000365395:p.Ala266Thr						p.A266T	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	796	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	266						Missense_Mutation	SNP	ENST00000376221.1	37	c.796G>A	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.05	1.524004	0.27299	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	2.44	0.29823	.	0.382752	0.24561	N	0.037470	T	0.38268	0.1034	L	0.31294	0.92	0.09310	N	1	B	0.32731	0.382	B	0.28139	0.086	T	0.16541	-1.0399	10	0.32370	T	0.25	-20.033	7.5085	0.27560	0.1645:0.1364:0.6991:0.0	.	266	Q5VUY2	ADCL4_HUMAN	T	266	ENSP00000365395:A266T	ENSP00000365395:A266T	A	+	1	0	AADACL4	12648905	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.356000	0.07661	1.034000	0.39945	0.655000	0.94253	GCC		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		9	189	0	0	0	0.004482	0	9	189				
ERC1	23085	broad.mit.edu	37	12	1192464	1192464	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:1192464G>T	ENST00000397203.2	+	3	1210	c.804G>T	c.(802-804)caG>caT	p.Q268H	ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAACTTTCAGAGGCTTCATG	0.507																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(802-804)caG>caT		ELKS/RAB6-interacting/CAST family member 1							76.0	69.0	71.0					12																	1192464		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1192464G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.804G>T	12.37:g.1192464G>T	ENSP00000380386:p.Gln268His					ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H	p.Q268H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		3	1210	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		268					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.804G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412733	0.42817	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.62	4.73	0.59995	.	0.061231	0.64402	D	0.000002	T	0.35682	0.0940	L	0.29908	0.895	0.35334	D	0.785869	P;P;P;P	0.42993	0.742;0.643;0.797;0.783	B;B;B;P	0.46419	0.382;0.179;0.424;0.516	T	0.49899	-0.8890	10	0.54805	T	0.06	-23.63	7.5644	0.27870	0.1442:0.1368:0.719:0.0	.	44;268;268;268	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	H	268;268;268;268;268;268;268;268;268;268;44	ENSP00000340054:Q268H;ENSP00000380386:Q268H;ENSP00000438546:Q268H;ENSP00000445336:Q268H;ENSP00000442739:Q268H;ENSP00000347621:Q268H;ENSP00000354158:Q268H;ENSP00000410064:Q268H	ENSP00000340054:Q268H	Q	+	3	2	ERC1	1062725	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.647000	0.24812	1.503000	0.48686	0.655000	0.94253	CAG		0.507	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		10	74	1	0	7.48243e-07	0.006214	8.65614e-07	10	74				
CAMK2A	815	broad.mit.edu	37	5	149602668	149602668	+	Silent	SNP	G	G	A	rs373201434		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:149602668G>A	ENST00000348628.6	-	17	1982	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	CAMK2A_ENST00000398376.3_Silent_p.D450D|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	439					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGCCAGCGTCCAGGTACT	0.642																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1315-1317)gaC>gaT		calcium/calmodulin-dependent protein kinase II alpha		G	,	1,4405	2.1+/-5.4	0,1,2202	74.0	83.0	80.0		1350,1317	-4.8	0.5	5		80	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CAMK2A	NM_015981.3,NM_171825.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	450/490,439/479	149602668	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602668G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1317C>T	5.37:g.149602668G>A						CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Silent_p.D450D	p.D439D	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1982	-		all_hematologic(541;0.224)	439					Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	c.1317C>T	CCDS43386.1																																																																																				0.642	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		5	96	0	0	0	0.014758	0	5	96				
EPRS	2058	broad.mit.edu	37	1	220213574	220213574	+	Silent	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:220213574G>A	ENST00000366923.3	-	2	353	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	28					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CGGAAATGCTGACATCGTCTT	0.303																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(82-84)gtC>gtT		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						103.0	111.0	109.0					1																	220213574		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220213574G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.84C>T	1.37:g.220213574G>A							p.V28V	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	2	353	-			28					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.84C>T	CCDS31027.1																																																																																				0.303	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		7	150	0	0	0	0.004482	0	7	150				
SEH1L	81929	broad.mit.edu	37	18	12986964	12986964	+	3'UTR	SNP	G	G	A	rs142773894	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr18:12986964G>A	ENST00000262124.11	+	0	2923				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_Missense_Mutation_p.D392N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCACTCTTGCGATGCTGACAC	0.527																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1174-1176)Gat>Aat		SEH1-like (S. cerevisiae)		G	ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	87.0		1174,	5.7	1.0	18	dbSNP_134	87	0,8600		0,0,4300	no	missense,utr-3	SEH1L	NM_001013437.1,NM_031216.3	23,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,	392/422,	12986964	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986964G>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1713G>A	18.37:g.12986964G>A						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.D392N	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1275	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.1174G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406136	0.62288	2.27E-4	0.0	ENSG00000085415	ENST00000399892	T	0.70282	-0.47	5.7	5.7	0.88788	.	0.470389	0.21867	N	0.067941	D	0.85750	0.5769	.	.	.	0.39374	D	0.966139	D	0.76494	0.999	D	0.80764	0.994	D	0.86855	0.2026	9	0.62326	D	0.03	-15.7489	19.8297	0.96630	0.0:0.0:1.0:0.0	.	392	Q96EE3-1	.	N	392	ENSP00000382779:D392N	ENSP00000382779:D392N	D	+	1	0	SEH1L	12976964	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.634000	0.67833	2.697000	0.92050	0.557000	0.71058	GAT		0.527	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	93	0	0	0	0.003080	0	7	93				
HSD17B4	3295	broad.mit.edu	37	5	118837734	118837734	+	Splice_Site	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:118837734A>G	ENST00000256216.6	+	14	1342		c.e14-1		HSD17B4_ENST00000504811.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		ACCCTAACATAGGTTCTTCAT	0.368																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.e15-1		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						149.0	153.0	152.0					5																	118837734		2202	4300	6502	SO:0001630	splice_region_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118837734A>G		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1210-1A>G	5.37:g.118837734A>G						HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site		NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	15	1468	+		all_cancers(142;0.0206)|Prostate(80;0.0322)						B4DNV1|B4DVS5|E9PB82|F5HE57	Splice_Site	SNP	ENST00000256216.6	37		CCDS4126.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666398	0.47677	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3778	0.60750	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B4	118865633	1.000000	0.71417	0.949000	0.38748	0.679000	0.39708	7.355000	0.79434	2.035000	0.60131	0.529000	0.55759	.		0.368	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	Intron	9	143	0	0	0	0.006214	0	9	143				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	p.G245S	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	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> 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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	95	0	0	0	0.014758	0	5	95				
TFDP1	7027	broad.mit.edu	37	13	114290866	114290866	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr13:114290866A>G	ENST00000375370.5	+	10	1069	c.857A>G	c.(856-858)aAt>aGt	p.N286S	TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	286	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TATCTGTTTAATTTTGACAAC	0.542										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(856-858)aAt>aGt		transcription factor Dp-1							100.0	103.0	102.0					13																	114290866		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290866A>G	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.857A>G	13.37:g.114290866A>G	ENSP00000364519:p.Asn286Ser	TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S|TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S	p.N286S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1069	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	286			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.857A>G	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936965	0.52972	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.46451	0.87;1.8;0.91	4.4	4.4	0.53042	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	L	0.59912	1.85	0.80722	D	1	B;B;P;B	0.49862	0.161;0.166;0.929;0.415	B;B;B;B	0.43990	0.081;0.152;0.438;0.102	T	0.50890	-0.8774	10	0.72032	D	0.01	.	13.6209	0.62136	1.0:0.0:0.0:0.0	.	191;191;191;286	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	S	191;286;191	ENSP00000443878:N191S;ENSP00000364519:N286S;ENSP00000438450:N191S	ENSP00000364519:N286S	N	+	2	0	TFDP1	113338867	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	8.380000	0.90149	1.619000	0.50296	0.402000	0.26972	AAT		0.542	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		6	128	0	0	0	0.003080	0	6	128				
ZNF615	284370	broad.mit.edu	37	19	52496292	52496292	+	Silent	SNP	C	C	T	rs146634089		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:52496292C>T	ENST00000602063.1	-	6	2386	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	ZNF615_ENST00000598071.1_Silent_p.P690P|ZNF615_ENST00000391795.3_Silent_p.P684P|ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000376716.5_Silent_p.P679P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P679P(1)|p.P690P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATTTGTACGGTTTCTCTC	0.408																																						ENST00000602063.1																			2	Substitution - coding silent(2)	p.P679P(1)|p.P690P(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(2035-2037)ccG>ccA		zinc finger protein 615		C	,	0,4406		0,0,2203	160.0	155.0	157.0		2070,2037	-5.7	0.0	19	dbSNP_134	157	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF615	NM_001199324.1,NM_198480.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	690/743,679/732	52496292	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496292C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2037G>A	19.37:g.52496292C>T						ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000376716.5_Silent_p.P679P|ZNF615_ENST00000598071.1_Silent_p.P690P|ZNF615_ENST00000391795.3_Silent_p.P684P	p.P679P			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2386	-		all_neural(266;0.117)	679					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.2037G>A	CCDS12846.1																																																																																				0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		11	185	0	0	0	0.008291	0	11	185				
SLC39A5	283375	broad.mit.edu	37	12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155.0	155.0	155.0					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		5	354	0	0	0	0.021553	0	5	354				
FUCA2	2519	broad.mit.edu	37	6	143828561	143828561	+	Splice_Site	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr6:143828561C>T	ENST00000002165.6	-	2	280	c.225G>A	c.(223-225)tgG>tgA	p.W75*	RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000438118.2_Splice_Site_p.W75*|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	75					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GCCAATACCACCTAAGGGGAG	0.388																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e2-1		fucosidase, alpha-L- 2, plasma							70.0	78.0	75.0					6																	143828561		2203	4300	6503	SO:0001630	splice_region_variant	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143828561C>T	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.225-1G>A	6.37:g.143828561C>T						FUCA2_ENST00000438118.2_Splice_Site_p.W75_splice|FUCA2_ENST00000367585.1_Splice_Site_p.W75_splice	p.W75_splice	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	2	280	-			75					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Splice_Site	SNP	ENST00000002165.6	37	c.224_splice	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640036	0.96693	.	.	ENSG00000001036	ENST00000002165;ENST00000438118;ENST00000367585	.	.	.	4.91	4.91	0.64330	.	0.139208	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6402	0.91393	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000002165:W75X	W	-	3	0	FUCA2	143870254	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.278000	0.78587	2.698000	0.92095	0.655000	0.94253	TGG		0.388	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020	Nonsense_Mutation	8	117	0	0	0	0.003080	0	8	117				
RELA	5970	broad.mit.edu	37	11	65426194	65426194	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:65426194T>C	ENST00000406246.3	-	7	920	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	RELA_ENST00000308639.9_Missense_Mutation_p.Q217R|RELA_ENST00000525693.1_Missense_Mutation_p.Q220R	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	220	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TATACCTTTCTGCACCTTGTC	0.562																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(658-660)cAg>cGg		v-rel avian reticuloendotheliosis viral oncogene homolog A							120.0	103.0	109.0					11																	65426194		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65426194T>C	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.659A>G	11.37:g.65426194T>C	ENSP00000384273:p.Gln220Arg					RELA_ENST00000308639.9_Missense_Mutation_p.Q217R|RELA_ENST00000406246.3_Missense_Mutation_p.Q220R	p.Q220R			Q04206	TF65_HUMAN			7	721	-			220			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.659A>G	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684952	0.88639	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.8	4.8	0.61643	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.80616	2.505	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	0.997;0.996;0.996;0.994;1.0;0.998	D;D;D;D;D;D	0.77004	0.956;0.988;0.988;0.973;0.989;0.952	T	0.13791	-1.0496	10	0.87932	D	0	-16.7622	12.6124	0.56558	0.0:0.0:0.0:1.0	.	220;207;217;220;231;220	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	R	220;220;217;220;231;231	ENSP00000384273:Q220R;ENSP00000432537:Q220R;ENSP00000311508:Q217R;ENSP00000433526:Q231R	ENSP00000311508:Q217R	Q	-	2	0	RELA	65182770	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.851000	0.86920	1.933000	0.56026	0.533000	0.62120	CAG		0.562	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		16	146	0	0	0	0.028581	0	16	146				
NADSYN1	55191	broad.mit.edu	37	11	71209471	71209471	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:71209471C>T	ENST00000319023.2	+	20	2155	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.A396V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A285V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	656	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTCACACCCGCGTACCACGCC	0.522																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1966-1968)gCg>gTg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						157.0	128.0	138.0					11																	71209471		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71209471C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1967C>T	11.37:g.71209471C>T	ENSP00000326424:p.Ala656Val					NADSYN1_ENST00000530055.1_Missense_Mutation_p.A285V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.A396V	p.A656V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			20	2155	+			656			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1967C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.436183	0.43224	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.40756	1.02;1.02;1.02	5.21	4.3	0.51218	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.222920	0.37393	N	0.002105	T	0.58409	0.2120	M	0.75085	2.285	0.49299	D	0.99977	D;P	0.69078	0.997;0.688	P;B	0.59357	0.856;0.318	T	0.59043	-0.7528	10	0.33940	T	0.23	-30.0653	13.6829	0.62496	0.0:0.8439:0.1561:0.0	.	396;656	B3KUU4;Q6IA69	.;NADE_HUMAN	V	656;396;285	ENSP00000326424:A656V;ENSP00000443718:A396V;ENSP00000431820:A285V	ENSP00000326424:A656V	A	+	2	0	NADSYN1	70887119	0.990000	0.36364	0.098000	0.21074	0.002000	0.02628	4.965000	0.63708	1.190000	0.43042	-0.234000	0.12200	GCG		0.522	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	187	0	0	0	0.001984	0	5	187				
BRICD5	283870	broad.mit.edu	37	16	2260588	2260588	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:2260588G>C	ENST00000562360.1	-	2	114	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Missense_Mutation_p.L39V|BRICD5_ENST00000566018.1_Missense_Mutation_p.L39V			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											GCcagcaccagcagcagcagc	0.657																																						ENST00000328540.3																			0											c.(115-117)Ctg>Gtg		BRICHOS domain containing 5							17.0	21.0	20.0					16																	2260588		2194	4287	6481	SO:0001583	missense	283870							g.chr16:2260588G>C	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115C>G	16.37:g.2260588G>C	ENSP00000455052:p.Leu39Val					BRICD5_ENST00000562360.1_Missense_Mutation_p.L39V|BRICD5_ENST00000566018.1_Missense_Mutation_p.L39V	p.L39V	NM_182563.3	NP_872369.2					2	1231	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.115C>G	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	G	6.156	0.396997	0.11638	.	.	ENSG00000182685	ENST00000328540	T	0.28895	1.59	5.39	3.32	0.38043	.	.	.	.	.	T	0.35885	0.0947	L	0.36672	1.1	0.29620	N	0.846237	D;D	0.76494	0.999;0.998	D;D	0.66351	0.943;0.941	T	0.12116	-1.0560	9	0.14656	T	0.56	-22.4609	6.9054	0.24305	0.0932:0.1755:0.7313:0.0	.	39;39	Q6PL45;Q6PL45-2	CP079_HUMAN;.	V	39	ENSP00000332389:L39V	ENSP00000332389:L39V	L	-	1	2	C16orf79	2200589	0.711000	0.27906	1.000000	0.80357	0.144000	0.21451	0.311000	0.19380	1.279000	0.44446	-0.150000	0.13652	CTG		0.657	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		4	50	0	0	0	0.009096	0	4	50				
ARID1A	8289	broad.mit.edu	37	1	27105656	27105656	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:27105656C>G	ENST00000324856.7	+	20	5638	c.5267C>G	c.(5266-5268)cCa>cGa	p.P1756R	ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1756					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGTCTAGTCCAGCTCCCATG	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5266-5268)cCa>cGa		AT rich interactive domain 1A (SWI-like)							78.0	81.0	80.0					1																	27105656		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105656C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5267C>G	1.37:g.27105656C>G	ENSP00000320485:p.Pro1756Arg					ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R	p.P1756R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5638	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1756					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5267C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615857	0.46631	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.09350	4.55;4.36;4.36;2.99	5.06	5.06	0.68205	.	0.537042	0.22395	N	0.060625	T	0.10208	0.0250	L	0.29908	0.895	0.38198	D	0.940111	P;P;P	0.49090	0.706;0.851;0.919	B;B;B	0.41619	0.225;0.191;0.361	T	0.32955	-0.9887	10	0.16420	T	0.52	-5.4959	18.9709	0.92715	0.0:1.0:0.0:0.0	.	1373;1756;1539	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	R	1756;1539;1373;84	ENSP00000320485:P1756R;ENSP00000387636:P1539R;ENSP00000363267:P1373R;ENSP00000442437:P84R	ENSP00000320485:P1756R	P	+	2	0	ARID1A	26978243	0.995000	0.38212	1.000000	0.80357	0.910000	0.53928	3.346000	0.52190	2.791000	0.96007	0.591000	0.81541	CCA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	134	0	0	0	0.008291	0	11	134				
ABCA4	24	broad.mit.edu	37	1	94497574	94497574	+	Silent	SNP	G	G	A	rs534365589		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:94497574G>A	ENST00000370225.3	-	27	3974	c.3888C>T	c.(3886-3888)aaC>aaT	p.N1296N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1296					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGGGTTGACGTTTTCTCTTT	0.512																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3886-3888)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 4							61.0	68.0	66.0					1																	94497574		2203	4299	6502	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94497574G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3888C>T	1.37:g.94497574G>A							p.N1296N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	27	3974	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1296					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3888C>T	CCDS747.1																																																																																				0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	170	0	0	0	0.001984	0	5	170				
NBPF10	100132406	broad.mit.edu	37	1	145302833	145302833	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:145302833G>T	ENST00000369339.3	+	5	711	c.458G>T	c.(457-459)aGa>aTa	p.R153I	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.R424I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	424						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		GAGGGGTGTAGACTGGCACAG	0.572																																						ENST00000342960.5																			0				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.(1270-1272)aGa>aTa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145302833G>T	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	ENST00000369339.3:c.458G>T	1.37:g.145302833G>T	ENSP00000358345:p.Arg153Ile					NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I|NBPF10_ENST00000369339.2_Missense_Mutation_p.R153I|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R424I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1306	+	all_hematologic(923;0.032)		424					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1271G>T		.	.	.	.	.	.	.	.	.	.	.	12.19	1.862603	0.32884	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.51071	0.72;3.87	0.712	0.712	0.18167	.	.	.	.	.	T	0.49287	0.1548	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24048	-1.0171	8	0.62326	D	0.03	.	.	.	.	.	153	A8MQ30	.	I	349;153;153;424	ENSP00000358344:R153I;ENSP00000345684:R424I	ENSP00000345684:R424I	R	+	2	0	NBPF10	144014190	0.001000	0.12720	0.002000	0.10522	0.024000	0.10985	0.305000	0.19254	0.672000	0.31204	0.409000	0.27619	AGA		0.572	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	249	1	0	0.00116845	0.021553	0.00130072	5	249				
VPS13B	157680	broad.mit.edu	37	8	100160146	100160146	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:100160146A>G	ENST00000358544.2	+	14	2032	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	VPS13B_ENST00000395996.1_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	641					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTCGACATACAAGTGTTAC	0.343																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(1921-1923)Aca>Gca		vacuolar protein sorting 13 homolog B (yeast)							170.0	165.0	166.0					8																	100160146		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100160146A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1921A>G	8.37:g.100160146A>G	ENSP00000351346:p.Thr641Ala					VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A	p.T641A			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		14	2032	+	Breast(36;3.73e-07)		641					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1921A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768740	0.49680	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.77620	-1.11;-0.41;-0.41;-0.11	5.17	5.17	0.71159	.	0.086607	0.49916	D	0.000128	T	0.68742	0.3034	L	0.27053	0.805	0.43462	D	0.995661	P;P;P;B;B	0.46277	0.875;0.875;0.802;0.4;0.4	P;P;B;B;B	0.45037	0.467;0.467;0.277;0.121;0.121	T	0.70809	-0.4771	10	0.48119	T	0.1	.	10.5338	0.44992	0.8556:0.0:0.0:0.1444	.	641;641;641;641;641	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	A	641	ENSP00000347281:T641A;ENSP00000349685:T641A;ENSP00000351346:T641A;ENSP00000379318:T641A	ENSP00000347281:T641A	T	+	1	0	VPS13B	100229322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.462000	0.73526	2.063000	0.61619	0.533000	0.62120	ACA		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	239	0	0	0	0.014758	0	4	239				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	4						4	4	---	---	---	---
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	lincRNA	DEL	T	T	-	rs368373384	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:160905975delT	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							cttcttcttcttttttttttt	0.393													|||unknown(HR)	181	0.0361422	0.1278	0.0144	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.001					ENST00000356006.3																			0																																																			0							g.chr1:160905975delT																													1.37:g.160905975delT														0	629	+									RNA	DEL	ENST00000427339.1	37																																																																																						0.393	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000071456.1			4	4						4	4	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269																																						ENST00000287394.5																			1	Deletion - Frameshift(1)	p.E119fs*8(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(352-354)aafs		ATPase family, AAA domain containing 2							144.0	150.0	148.0					8																	124384893		2201	4297	6498	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384893delT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.354delA	8.37:g.124384893delT	ENSP00000287394:p.Lys118fs					ATAD2_ENST00000521903.1_5'UTR	p.K118fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	461	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		118					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.354delA	CCDS6343.1																																																																																				0.269	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		9	234						9	234	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		9	235						9	235	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42041985	42041986	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr15:42041985_42041986delAG	ENST00000570161.1	+	16	6180_6181	c.6180_6181delAG	c.(6178-6183)caagatfs	p.D2061fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.D2061fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACAGATCAAGATTATAAAGA	0.406																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6178-6183)caatfs		MGA, MAX dimerization protein																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041985_42041986delAG	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6180_6181delAG	15.37:g.42041985_42041986delAG	ENSP00000457035:p.Asp2061fs					MGA_ENST00000545763.1_Frame_Shift_Del_p.QD1851fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.QD2021fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.QD1851fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.QD2060fs	p.QD2060fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6361_6362	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2021					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.6180_6181delAG	CCDS55959.1																																																																																				0.406	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		22	204						22	204	---	---	---	---
NPIPB5	100132247	broad.mit.edu	37	16	22545578	22545580	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:22545578_22545580delATA	ENST00000517539.1	+	8	1349_1351	c.1274_1276delATA	c.(1273-1278)gataat>gat	p.N426del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.N426del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	426	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCGGATGATAATCTCAAGAC	0.586																																						ENST00000424340.1																			0											c.(1273-1278)gat>g		nuclear pore complex interacting protein family, member B5				72,304		29,14,145							0.0			1	29,645		11,7,319	no	coding	LOC100132247	NM_001135865.1		40,21,464	A1A1,A1R,RR		4.3027,19.1489,9.619				101,949				SO:0001651	inframe_deletion	100132247							g.chr16:22545578_22545580delATA		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1274_1276delATA	16.37:g.22545578_22545580delATA	ENSP00000430633:p.Asn426del					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_In_Frame_Del_p.DN425del	p.DN425del	NM_001135865.1	NP_001129337.1					7	1553_1555	+								B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	c.1274_1276delATA	CCDS45443.1																																																																																				0.586	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	4						3	4	---	---	---	---
FLJ26850	400710	broad.mit.edu	37	19	50563458	50563458	+	RNA	DEL	C	C	-			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:50563458delC	ENST00000527209.1	+	0	606					NR_027257.1																						TGAAGGCTTTCCCACATTCCG	0.537																																						ENST00000527209.1																			0																																																			0							g.chr19:50563458delC																													19.37:g.50563458delC								NR_027257.1						0	606	+									RNA	DEL	ENST00000527209.1	37																																																																																						0.537	CTD-2126E3.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000384643.1			2	4						2	4	---	---	---	---
