#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_match_norm_validation_allele1	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_tumor_sample
ZMYM1	79830	broad.mit.edu	37	1	35579714	35579714	+	Silent	SNP	A	A	C			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:35579714A>C	ENST00000373330.1	+	11	2457	c.2283A>C	c.(2281-2283)gtA>gtC	p.V761V	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.V761V			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	761						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTAAAGAAGTAAAAGAACTCC	0.318																																						uc001bym.2		NaN																	0					0						c.(2281-2283)GTA>GTC		zinc finger, MYM domain containing 1							62.0	61.0	61.0					1																	35579714		1800	4075	5875	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579714A>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2283A>C	1.37:g.35579714A>C						ZMYM1_uc001byn.2_Silent_p.V761V|ZMYM1_uc010ohu.1_Silent_p.V742V|ZMYM1_uc001byo.2_Silent_p.V401V|ZMYM1_uc009vut.2_Silent_p.V686V	p.V761V	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2431	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	761					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.2283A>C	CCDS41302.1																																																																																				0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		12	34	0	0	0	0.010729	0	12	34		
HECTD3	79654	broad.mit.edu	37	1	45475257	45475257	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:45475257C>T	ENST00000372172.4	-	5	929	c.858G>A	c.(856-858)aaG>aaA	p.K286K	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	286	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGGTGCCCTTCTTCATAGTAA	0.542																																						uc009vxk.2		NaN																	0					0						c.(856-858)AAG>AAA		HECT domain containing 3							131.0	125.0	127.0					1																	45475257		2007	4169	6176	SO:0001819	synonymous_variant	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45475257C>T	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.858G>A	1.37:g.45475257C>T						HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Silent_p.K2K|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	p.K286K	NM_024602	NP_078878	Q5T447	HECD3_HUMAN			5	956	-	Acute lymphoblastic leukemia(166;0.155)		286			DOC.		B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	c.858G>A	CCDS41318.1																																																																																				0.542	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1		NM_024602		18	88	0	0	0	0.038395	0	18	88		
KCNA2	3737	broad.mit.edu	37	1	111147111	111147111	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:111147111C>T	ENST00000485317.1	-	3	967	c.294G>A	c.(292-294)ttG>ttA	p.L98L	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.L98L|KCNA2_ENST00000369770.3_Silent_p.L98L|KCNA2_ENST00000440270.1_Silent_p.L98L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	98					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CAGGTCGCCTCAATCGGCCCC	0.473																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NaN																	0				ovary(1)	1						c.(292-294)TTG>TTA		potassium voltage-gated channel, shaker-related							46.0	50.0	48.0					1																	111147111		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147111C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.294G>A	1.37:g.111147111C>T						KCNA2_uc009wfv.1_Silent_p.L98L|KCNA2_uc009wfw.2_Silent_p.L98L	p.L98L	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	790	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	98					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.294G>A	CCDS827.1																																																																																				0.473	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2		NM_004974		21	65	0	0	0	0.049695	0	21	65		
HMCN1	83872	broad.mit.edu	37	1	186107047	186107047	+	Missense_Mutation	SNP	C	C	T	rs574382483		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:186107047C>T	ENST00000271588.4	+	89	14096	c.13867C>T	c.(13867-13869)Cgg>Tgg	p.R4623W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4623W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4623	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R4623W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCATGGTGGGCGGCCATGTGA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19101	0.0		0.0	False		,,,				2504	0.001					uc001grq.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(22)|skin(1)	23						c.(13867-13869)CGG>TGG		hemicentin 1 precursor							140.0	124.0	130.0					1																	186107047		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186107047C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13867C>T	1.37:g.186107047C>T	ENSP00000271588:p.Arg4623Trp					HMCN1_uc001grs.1_Missense_Mutation_p.R192W	p.R4623W	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			89	14096	+			4623			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13867C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287031	0.59867	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53857	0.6;0.6	5.52	3.47	0.39725	.	0.272825	0.40222	N	0.001157	T	0.71702	0.3371	M	0.89030	3	0.40726	D	0.982707	D	0.71674	0.998	P	0.60886	0.88	T	0.78595	-0.2143	10	0.72032	D	0.01	.	11.9607	0.53007	0.5919:0.4081:0.0:0.0	.	4623	Q96RW7	HMCN1_HUMAN	W	4623	ENSP00000271588:R4623W;ENSP00000356462:R4623W	ENSP00000271588:R4623W	R	+	1	2	HMCN1	184373670	1.000000	0.71417	0.983000	0.44433	0.525000	0.34531	3.210000	0.51129	1.311000	0.45024	-0.538000	0.04264	CGG		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		19	92	0	0	0	0.038395	0	19	92		
GALNT2	2590	broad.mit.edu	37	1	230391013	230391013	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:230391013G>A	ENST00000366672.4	+	11	1131	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	GALNT2_ENST00000541865.1_Missense_Mutation_p.V229M|GALNT2_ENST00000543760.1_Silent_p.P315P	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	353	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGATCATCCCGTGCAGCCGTG	0.607																																						uc010pwa.1		NaN																	0				ovary(2)	2						c.(1057-1059)CCG>CCA		polypeptide N-acetylgalactosaminyltransferase 2							225.0	166.0	186.0					1																	230391013		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230391013G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1059G>A	1.37:g.230391013G>A						GALNT2_uc010pvy.1_Silent_p.P315P|GALNT2_uc010pvz.1_RNA	p.P353P	NM_004481	NP_004472	Q10471	GALT2_HUMAN			11	1131	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	353			Lumenal (Potential).|Catalytic subdomain B.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.1059G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390847	0.62066	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	-5.78	0.02362	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	T	0.42378	-0.9455	6	0.87932	D	0	.	0.3919	0.00412	0.2371:0.2135:0.2755:0.2739	.	.	.	.	M	229	ENSP00000444346:V229M	ENSP00000444346:V229M	V	+	1	0	GALNT2	228457636	0.000000	0.05858	0.966000	0.40874	0.993000	0.82548	-2.476000	0.00986	-0.779000	0.04560	-0.217000	0.12591	GTG		0.607	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		NM_004481		18	103	0	0	0	0.038395	0	18	103		
C11orf16	56673	broad.mit.edu	37	11	8947080	8947080	+	Silent	SNP	C	C	T	rs146836226	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:8947080C>T	ENST00000326053.5	-	5	1240	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	C11orf16_ENST00000525780.1_Silent_p.Q378Q|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	378										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGAGGCCACTCTGTCTCAGAG	0.547																																						uc001mhb.3		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1132-1134)CAG>CAA		hypothetical protein LOC56673							70.0	64.0	66.0					11																	8947080		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8947080C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1134G>A	11.37:g.8947080C>T						C11orf16_uc001mhc.3_Silent_p.Q378Q	p.Q378Q	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	1258	-			378					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1134G>A	CCDS7794.1																																																																																				0.547	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1		NM_020643		18	78	0	0	0	0.043863	0	18	78		
NADSYN1	55191	broad.mit.edu	37	11	71195380	71195380	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:71195380G>T	ENST00000319023.2	+	15	1530	c.1342G>T	c.(1342-1344)Gat>Tat	p.D448Y	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.D188Y|NADSYN1_ENST00000530055.1_Missense_Mutation_p.D77Y	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	448	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)	TCTCAACATCGATCCAGCCGT	0.582																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2		NaN																	0				ovary(2)	2						c.(1342-1344)GAT>TAT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						105.0	94.0	98.0					11																	71195380		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.chr11:71195380G>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.1342G>T	11.37:g.71195380G>T	ENSP00000326424:p.Asp448Tyr					NADSYN1_uc001oqo.2_Missense_Mutation_p.D188Y|NADSYN1_uc001oqp.2_Missense_Mutation_p.D77Y	p.D448Y	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			15	1468	+			448			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1342G>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612877	0.66672	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.63	4.63	0.57726	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.139696	0.45606	D	0.000346	T	0.77928	0.4204	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	D	0.85698	0.1311	10	0.87932	D	0	-20.7564	15.0423	0.71799	0.0:0.0:1.0:0.0	.	188;448	B3KUU4;Q6IA69	.;NADE_HUMAN	Y	448;188;77;77	ENSP00000326424:D448Y;ENSP00000443718:D188Y;ENSP00000437172:D77Y;ENSP00000431820:D77Y	ENSP00000326424:D448Y	D	+	1	0	NADSYN1	70873028	1.000000	0.71417	0.517000	0.27799	0.453000	0.32348	8.146000	0.89626	2.137000	0.66172	0.456000	0.33151	GAT		0.582	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1		NM_018161		9	54	1	0	1.08611e-07	0.010729	1.14562e-07	9	54		
CCDC82	79780	broad.mit.edu	37	11	96117437	96117437	+	Missense_Mutation	SNP	C	C	A	rs369937047		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:96117437C>A	ENST00000278520.5	-	3	903	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.D159Y|CCDC82_ENST00000542662.1_Missense_Mutation_p.D159Y			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	159										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTGTTGAGATCATTATCCTCT	0.343																																						uc009ywp.2		NaN																	0				ovary(1)	1						c.(475-477)GAT>TAT		coiled-coil domain containing 82							190.0	184.0	186.0					11																	96117437		2201	4297	6498	SO:0001583	missense	79780						protein binding	g.chr11:96117437C>A	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.475G>T	11.37:g.96117437C>A	ENSP00000278520:p.Asp159Tyr					CCDC82_uc009ywq.2_Missense_Mutation_p.D159Y|CCDC82_uc001pfx.3_Missense_Mutation_p.D159Y|CCDC82_uc009ywr.2_Missense_Mutation_p.D159Y|CCDC82_uc009yws.2_Missense_Mutation_p.D159Y	p.D159Y	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	1	718	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	159					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.475G>T	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	7.617	0.676015	0.14841	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	2.1	1.14	0.20703	.	0.446857	0.23028	N	0.052763	T	0.14657	0.0354	L	0.29908	0.895	0.09310	N	1	D;P	0.53885	0.963;0.624	B;B	0.41135	0.348;0.347	T	0.20907	-1.0261	10	0.22706	T	0.39	-0.081	7.3118	0.26479	0.0:0.852:0.0:0.148	.	159;159	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	Y	159	ENSP00000278520:D159Y;ENSP00000444010:D159Y;ENSP00000397156:D159Y;ENSP00000442723:D159Y	ENSP00000278520:D159Y	D	-	1	0	CCDC82	95757085	0.000000	0.05858	0.022000	0.16811	0.629000	0.37895	0.091000	0.15046	0.246000	0.21394	0.121000	0.15741	GAT		0.343	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2		NM_024725		27	107	1	0	6.36457e-07	0.021523	6.6226e-07	27	107		
HDAC7	51564	broad.mit.edu	37	12	48177866	48177866	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr12:48177866C>T	ENST00000427332.2	-	25	2965	c.2809G>A	c.(2809-2811)Gat>Aat	p.D937N	HDAC7_ENST00000552960.1_Missense_Mutation_p.D959N|HDAC7_ENST00000380610.4_3'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.D939N|HDAC7_ENST00000080059.7_Missense_Mutation_p.D976N|AC004466.1_ENST00000599515.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	937	Interaction with SIN3A. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATTACCTATCTTCAGCCAGG	0.627																																						uc010slo.1		NaN																	0				lung(1)|breast(1)	2						c.(2926-2928)GAT>AAT		histone deacetylase 7 isoform a							55.0	54.0	54.0					12																	48177866		2203	4300	6503	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48177866C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2809G>A	12.37:g.48177866C>T	ENSP00000404394:p.Asp937Asn					HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.D410N|HDAC7_uc001rqj.3_Missense_Mutation_p.D939N|HDAC7_uc001rqk.3_Missense_Mutation_p.D959N	p.D976N	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	25	3121	-			937			Interaction with SIN3A (By similarity).|Nuclear export signal (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.2926G>A		.	.	.	.	.	.	.	.	.	.	C	12.51	1.958996	0.34565	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000427332	T;T;T;T	0.54479	0.57;0.58;0.57;0.57	4.75	3.85	0.44370	.	1.073310	0.07142	N	0.847583	T	0.22781	0.0550	N	0.01352	-0.895	0.27738	N	0.944599	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.11329	0.006;0.004;0.003	T	0.19844	-1.0293	10	0.19147	T	0.46	.	5.4757	0.16694	0.0:0.7603:0.0:0.2397	.	976;959;939	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	N	976;939;959;937	ENSP00000080059:D976N;ENSP00000351326:D939N;ENSP00000448532:D959N;ENSP00000404394:D937N	ENSP00000080059:D976N	D	-	1	0	HDAC7	46464133	0.993000	0.37304	0.981000	0.43875	0.936000	0.57629	2.908000	0.48750	2.652000	0.90054	0.511000	0.50034	GAT		0.627	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2				7	44	0	0	0	0.038147	0	7	44		
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000537178.1_Splice_Site_p.E966K|CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K|CLIP1_ENST00000361654.4_Splice_Site_p.E890K|CLIP1_ENST00000545889.1_Splice_Site_p.E587K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493																																						uc001ucg.1		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|breast(1)	3						c.(3034-3036)GAA>AAA		restin isoform a							158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812709C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3034-1G>A	12.37:g.122812709C>T						CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	p.E1012K	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3140	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1012			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3034G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	Missense_Mutation	19	173	0	0	0	0.048971	0	19	173		
OR4N5	390437	broad.mit.edu	37	14	20612277	20612277	+	Missense_Mutation	SNP	G	G	A	rs139546094		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr14:20612277G>A	ENST00000333629.1	+	1	383	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCATCTGCCGGCCTTTACAC	0.488																																						uc010tla.1		NaN																	0				ovary(1)	1						c.(382-384)CGG>CAG		olfactory receptor, family 4, subfamily N,		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	165.0	161.0	163.0		383	-0.2	0.0	14	dbSNP_134	163	0,8600		0,0,4300	no	missense	OR4N5	NM_001004724.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	128/309	20612277	1,13005	2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612277G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.383G>A	14.37:g.20612277G>A	ENSP00000332110:p.Arg128Gln						p.R128Q	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	383	+	all_cancers(95;0.00108)		128			Cytoplasmic (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.383G>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	4.710	0.131999	0.08981	2.27E-4	0.0	ENSG00000184394	ENST00000333629	T	0.00392	7.58	4.0	-0.184	0.13280	GPCR, rhodopsin-like superfamily (1);	0.597438	0.13923	N	0.353453	T	0.00210	0.0006	L	0.28014	0.82	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34104	-0.9842	10	0.54805	T	0.06	.	7.4878	0.27443	0.5469:0.0:0.4531:0.0	.	128	Q8IXE1	OR4N5_HUMAN	Q	128	ENSP00000332110:R128Q	ENSP00000332110:R128Q	R	+	2	0	OR4N5	19682117	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.209000	0.09358	-0.147000	0.11254	-0.136000	0.14681	CGG		0.488	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1				38	199	0	0	0	0.074837	0	38	199		
BAZ1A	11177	broad.mit.edu	37	14	35234031	35234031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr14:35234031C>G	ENST00000382422.2	-	22	3985	c.3658G>C	c.(3658-3660)Gac>Cac	p.D1220H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.D1188H|BAZ1A_ENST00000360310.1_Missense_Mutation_p.D1220H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1220					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CCCATACTGTCTTCCACATCT	0.448																																						uc001wsk.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(3658-3660)GAC>CAC		bromodomain adjacent to zinc finger domain, 1A							304.0	241.0	262.0					14																	35234031		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35234031C>G	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3658G>C	14.37:g.35234031C>G	ENSP00000371859:p.Asp1220His					BAZ1A_uc001wsl.2_Missense_Mutation_p.D1188H	p.D1220H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	23	4226	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1220					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.3658G>C	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296575	0.60086	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.61392	0.11;0.11;0.11	5.6	5.6	0.85130	.	0.610437	0.17073	N	0.188086	T	0.51941	0.1704	N	0.14661	0.345	0.39356	D	0.965846	B;B	0.28880	0.226;0.145	B;B	0.38880	0.284;0.068	T	0.57093	-0.7870	10	0.72032	D	0.01	.	19.2261	0.93819	0.0:1.0:0.0:0.0	.	1188;1220	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	1188;1220;1220;872	ENSP00000351555:D1188H;ENSP00000371859:D1220H;ENSP00000353458:D1220H	ENSP00000351555:D1188H	D	-	1	0	BAZ1A	34303782	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	4.427000	0.59888	2.640000	0.89533	0.563000	0.77884	GAC		0.448	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1				16	121	0	0	0	0.028581	0	16	121		
EHD4	30844	broad.mit.edu	37	15	42193059	42193059	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr15:42193059G>A	ENST00000220325.4	-	6	1493	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	470	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCCTTCTTGGCGTTGACAC	0.582																																						uc001zot.2		NaN																	0				ovary(2)	2						c.(1408-1410)GCC>GCT		EH-domain containing 4							90.0	74.0	80.0					15																	42193059		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193059G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1410C>T	15.37:g.42193059G>A							p.A470A	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1473	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	470			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1410C>T	CCDS10081.1																																																																																				0.582	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2		NM_139265		14	59	0	0	0	0.020292	0	14	59		
MBD1	4152	broad.mit.edu	37	18	47800573	47800573	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr18:47800573A>G	ENST00000591416.1	-	11	1560	c.1129T>C	c.(1129-1131)Tgc>Cgc	p.C377R	MBD1_ENST00000590208.1_Missense_Mutation_p.C377R|MBD1_ENST00000585672.1_Missense_Mutation_p.C327R|MBD1_ENST00000457839.2_Missense_Mutation_p.C402R|MBD1_ENST00000591535.1_Missense_Mutation_p.C354R|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.C377R|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.C377R|MBD1_ENST00000353909.3_Missense_Mutation_p.C328R|MBD1_ENST00000269468.5_Missense_Mutation_p.C377R|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.C428R|MBD1_ENST00000436910.1_Missense_Mutation_p.C354R|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000588937.1_Missense_Mutation_p.C354R|MBD1_ENST00000269471.5_Missense_Mutation_p.C354R|MBD1_ENST00000585595.1_Missense_Mutation_p.C402R			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	377					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AACTGCAGGCATTGGCGCCAA	0.642																																						uc010dow.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1129-1131)TGC>CGC		methyl-CpG binding domain protein 1 isoform 1							91.0	90.0	91.0					18																	47800573		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800573A>G	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1129T>C	18.37:g.47800573A>G	ENSP00000467017:p.Cys377Arg					MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.C327R|MBD1_uc010xdi.1_Missense_Mutation_p.C428R|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.C377R|MBD1_uc002lei.3_Missense_Mutation_p.C377R|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.C328R|MBD1_uc002lel.3_Missense_Mutation_p.C354R|MBD1_uc002lem.3_Missense_Mutation_p.C377R|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.C402R|MBD1_uc010dox.1_Missense_Mutation_p.C354R|MBD1_uc002leo.2_Missense_Mutation_p.C377R	p.C377R	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			11	1566	-			377			CXXC-type 3.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1129T>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827777	0.71143	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839	D;D;D;D;D;D;D;D	0.99652	-6.13;-6.2;-6.13;-6.15;-6.13;-6.3;-6.1;-6.21	5.56	5.56	0.83823	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.997;0.998;0.999;0.998;0.996;0.999;0.999;0.999	D	0.97644	1.0150	10	0.87932	D	0	-14.0627	13.9844	0.64324	1.0:0.0:0.0:0.0	.	428;354;377;377;354;328;377;402	B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9;B4DXJ5	.;.;.;.;.;.;MBD1_HUMAN;.	R	377;328;377;354;354;428;377;377;402	ENSP00000372407:C377R;ENSP00000269469:C328R;ENSP00000269468:C377R;ENSP00000409561:C354R;ENSP00000269471:C354R;ENSP00000408846:C428R;ENSP00000339546:C377R;ENSP00000405268:C402R	ENSP00000269468:C377R	C	-	1	0	MBD1	46054571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.254000	0.74563	0.459000	0.35465	TGC		0.642	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846		29	105	0	0	0	0.045705	0	29	105		
LOC105372277	105372277	broad.mit.edu	37	19	12491949	12491949	+	3'UTR	SNP	T	T	C	rs11668955	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:12491949T>C	ENST00000435033.1	-	0	646																											TAACTGAAGGTTTTCCAAAAT	0.403													N|||	1549	0.309305	0.3729	0.3429	5008	,	,		19775	0.0734		0.4364	False		,,,				2504	0.3119					uc002mts.3		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(127-129)ACC>GCC		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491949T>C																												ENST00000435033.1:c.*302A>G	19.37:g.12491949T>C							p.T43A			Q96GE5	ZN799_HUMAN			4	593	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000435033.1	37	c.127A>G																																																																																					0.403	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1				3	26	0	0	0	0.004672	0	3	26		
LOC105372277	105372277	broad.mit.edu	37	19	12491955	12491955	+	3'UTR	SNP	A	A	C	rs11668074	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:12491955A>C	ENST00000435033.1	-	0	640																											AAGGTTTTCCAAAATTGTTTA	0.408													N|||	1549	0.309305	0.3729	0.3444	5008	,	,		19722	0.0734		0.4354	False		,,,				2504	0.3119					uc002mts.3		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(121-123)TGG>GGG		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491955A>C																												ENST00000435033.1:c.*296T>G	19.37:g.12491955A>C							p.W41G			Q96GE5	ZN799_HUMAN			4	587	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000435033.1	37	c.121T>G																																																																																					0.408	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1				3	26	0	0	0	0.004672	0	3	26		
ZNF536	9745	broad.mit.edu	37	19	30935717	30935717	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:30935717C>T	ENST00000355537.3	+	2	1395	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	416					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCCATGGGCGGCATGTCCC	0.627																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1246-1248)GGC>GGT		zinc finger protein 536							41.0	41.0	41.0					19																	30935717		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935717C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1248C>T	19.37:g.30935717C>T						ZNF536_uc010edd.1_Silent_p.G416G	p.G416G	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1386	+	Esophageal squamous(110;0.0834)		416					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1248C>T	CCDS32984.1																																																																																				0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		14	65	0	0	0	0.016723	0	14	65		
SPIB	6689	broad.mit.edu	37	19	50927009	50927009	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:50927009G>T	ENST00000595883.1	+	5	512	c.487G>T	c.(487-489)Gca>Tca	p.A163S	SPIB_ENST00000270632.7_Splice_Site|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G297V|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000439922.2_Missense_Mutation_p.A72S	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	163					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGGATCCGAGGCAGGTATGCG	0.647																																						uc002psd.2		NaN																	0				lung(1)|kidney(1)	2						c.(487-489)GCA>TCA		Spi-B transcription factor (Spi-1/PU.1 related)							23.0	23.0	23.0					19																	50927009		2200	4299	6499	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50927009G>T		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.487G>T	19.37:g.50927009G>T	ENSP00000471921:p.Ala163Ser					SPIB_uc002pse.2_Splice_Site_p.E162_splice|SPIB_uc010ycc.1_Missense_Mutation_p.A72S	p.A163S	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	512	+		all_neural(266;0.131)	163					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.487G>T	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	8.690	0.907167	0.17833	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.12984	2.63	4.03	2.98	0.34508	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.126833	0.33875	N	0.004480	T	0.21387	0.0515	L	0.43152	1.355	0.29825	N	0.830525	B;D	0.58970	0.141;0.984	B;D	0.65443	0.019;0.935	T	0.03717	-1.1010	10	0.21540	T	0.41	-8.8392	7.746	0.28869	0.1178:0.0:0.8822:0.0	.	72;163	B4DUG6;Q01892	.;SPIB_HUMAN	S	163;72	ENSP00000391877:A72S	ENSP00000270632:A163S	A	+	1	0	SPIB	55618821	1.000000	0.71417	0.997000	0.53966	0.792000	0.44763	2.671000	0.46842	1.040000	0.40099	0.462000	0.41574	GCA		0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1		NM_003121		6	12	1	0	0.00116845	0.021553	0.00118382	6	12		
CEACAM18	729767	broad.mit.edu	37	19	51984784	51984784	+	Missense_Mutation	SNP	C	C	T	rs200987432		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:51984784C>T	ENST00000396477.4	+	3	559	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	CEACAM18_ENST00000451626.1_Missense_Mutation_p.R241W	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	180										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TAGTAGTGACCGGATGACAAT	0.502													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20728	0.0		0.0	False		,,,				2504	0.0					uc002pwv.1		NaN																	0				skin(1)	1						c.(721-723)CGG>TGG		carcinoembryonic antigen-related cell adhesion		C	TRP/ARG	2,4072		0,2,2035	96.0	90.0	92.0		721	1.8	0.0	19		92	0,8378		0,0,4189	no	missense	CEACAM18	NM_001080405.1	101	0,2,6224	TT,TC,CC		0.0,0.0491,0.0161	probably-damaging	241/399	51984784	2,12450	2037	4189	6226	SO:0001583	missense	729767					integral to membrane		g.chr19:51984784C>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.538C>T	19.37:g.51984784C>T	ENSP00000379738:p.Arg180Trp						p.R241W	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	721	+		all_neural(266;0.0529)	241					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.721C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.60	1.988003	0.35036	4.91E-4	0.0	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.81163	-1.46	2.82	1.77	0.24775	Immunoglobulin-like fold (1);	.	.	.	.	D	0.87481	0.6188	M	0.81179	2.53	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74659	-0.3591	9	0.87932	D	0	-14.6802	5.7813	0.18308	0.0:0.8477:0.0:0.1523	.	241	A8MTB9	CEA18_HUMAN	W	241;180;180	ENSP00000402203:R241W	ENSP00000379738:R180W	R	+	1	2	CEACAM18	56676596	0.006000	0.16342	0.002000	0.10522	0.002000	0.02628	1.203000	0.32284	0.774000	0.33427	-0.259000	0.10710	CGG		0.502	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2				13	48	0	0	0	0.024245	0	13	48		
NBAS	51594	broad.mit.edu	37	2	15542413	15542413	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr2:15542413T>C	ENST00000281513.5	-	26	2975	c.2950A>G	c.(2950-2952)Att>Gtt	p.I984V	NBAS_ENST00000441750.1_Missense_Mutation_p.I864V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	984					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCAGGAATAATTTTTTGCTGC	0.348																																						uc002rcc.1		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2950-2952)ATT>GTT		neuroblastoma-amplified protein							116.0	113.0	114.0					2																	15542413		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15542413T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2950A>G	2.37:g.15542413T>C	ENSP00000281513:p.Ile984Val					NBAS_uc010exl.1_Missense_Mutation_p.I56V|NBAS_uc002rcd.1_RNA	p.I984V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			26	2976	-			984					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2950A>G	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.07|15.07	2.723938|2.723938	0.48728|0.48728	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842	T;T;T|.	0.16073|.	2.37;2.62;2.62|.	5.64|5.64	4.45|4.45	0.53987|0.53987	Secretory pathway Sec39 (1);|.	0.093065|.	0.64402|.	D|.	0.000001|.	T|T	0.69967|0.69967	0.3170|0.3170	M|M	0.72894|0.72894	2.215|2.215	0.49051|0.49051	D|D	0.999743|0.999743	P;B|.	0.46859|.	0.885;0.01|.	P;B|.	0.45449|.	0.481;0.021|.	T|T	0.68379|0.68379	-0.5424|-0.5424	10|5	0.87932|.	D|.	0|.	.|.	10.7557|10.7557	0.46234|0.46234	0.0:0.0:0.3051:0.6949|0.0:0.0:0.3051:0.6949	.|.	864;984|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	864;984;31|81	ENSP00000413201:I864V;ENSP00000281513:I984V;ENSP00000396501:I31V|.	ENSP00000281513:I984V|.	I|N	-|-	1|2	0|0	NBAS|NBAS	15459864|15459864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.242000|2.242000	0.43106|0.43106	0.915000|0.915000	0.36847|0.36847	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.348	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1		NM_015909		6	66	0	0	0	0.021553	0	6	66		
SMEK2	57223	broad.mit.edu	37	2	55792049	55792049	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr2:55792049C>G	ENST00000345102.5	-	14	2365	c.2064G>C	c.(2062-2064)caG>caC	p.Q688H	SMEK2_ENST00000272313.5_Missense_Mutation_p.Q603H|SMEK2_ENST00000407823.3_Missense_Mutation_p.Q656H|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	688					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTTCAGTTTCTGATTTTGTC	0.308																																						uc002rzc.2		NaN																	0				skin(1)	1						c.(2062-2064)CAG>CAC		SMEK homolog 2, suppressor of mek1 isoform 1							192.0	188.0	189.0					2																	55792049		2199	4298	6497	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55792049C>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.2064G>C	2.37:g.55792049C>G	ENSP00000339769:p.Gln688His					SMEK2_uc002rzb.2_Missense_Mutation_p.Q603H|SMEK2_uc002rzd.2_Missense_Mutation_p.Q656H|SMEK2_uc002ryz.2_Missense_Mutation_p.Q122H|SMEK2_uc002rza.2_Missense_Mutation_p.Q479H	p.Q688H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		14	2439	-			688					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.2064G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441857	0.63067	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	D;D;D	0.92545	-3.06;-3.06;-3.06	5.31	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	L	0.39898	1.24	0.54753	D	0.999986	P;P;P;P;P	0.46912	0.837;0.847;0.837;0.847;0.886	B;B;B;P;P	0.55824	0.424;0.396;0.424;0.497;0.785	D	0.91944	0.5565	10	0.48119	T	0.1	0.063	13.8635	0.63574	0.0:0.9264:0.0:0.0736	.	656;688;603;688;122	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	H	603;656;688	ENSP00000272313:Q603H;ENSP00000385912:Q656H;ENSP00000339769:Q688H	ENSP00000272313:Q603H	Q	-	3	2	SMEK2	55645553	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.597000	0.46214	1.254000	0.44035	0.655000	0.94253	CAG		0.308	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1		NM_020463		8	37	0	0	0	0.038147	0	8	37		
CNTNAP5	129684	broad.mit.edu	37	2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr2:125521571G>A	ENST00000431078.1	+	16	2741	c.2377G>A	c.(2377-2379)Gtc>Atc	p.V793I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	793	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V793I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAACGCCGTCTCATTTTA	0.428																																						uc002tno.2		NaN																	2	Substitution - Missense(2)		prostate(2)	ovary(10)	10						c.(2377-2379)GTC>ATC		contactin associated protein-like 5 precursor							128.0	121.0	123.0					2																	125521571		1867	4092	5959	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521571G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2377G>A	2.37:g.125521571G>A	ENSP00000399013:p.Val793Ile					CNTNAP5_uc010flu.2_Missense_Mutation_p.V794I	p.V793I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2741	+			793			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2377G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660591	0.67586	.	.	ENSG00000155052	ENST00000431078	T	0.49139	0.79	5.9	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.142139	0.31601	N	0.007361	T	0.30510	0.0767	L	0.28556	0.865	0.36018	D	0.83852	P	0.43633	0.813	B	0.25405	0.06	T	0.45086	-0.9285	10	0.37606	T	0.19	.	16.2139	0.82191	0.0:0.1324:0.8676:0.0	.	793	Q8WYK1	CNTP5_HUMAN	I	793	ENSP00000399013:V793I	ENSP00000399013:V793I	V	+	1	0	CNTNAP5	125238041	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	7.857000	0.86963	2.804000	0.96469	0.655000	0.94253	GTC		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				10	81	0	0	0	0.010729	0	10	81		
FLRT3	23767	broad.mit.edu	37	20	14306771	14306771	+	Missense_Mutation	SNP	C	C	T	rs147588771		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr20:14306771C>T	ENST00000378053.3	-	2	1638	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	FLRT3_ENST00000341420.4_Missense_Mutation_p.R461H|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	461	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTACTCACTGCGTTCCCCTGT	0.463																																						uc002wov.1		NaN																	0				kidney(1)	1						c.(1381-1383)CGC>CAC		fibronectin leucine rich transmembrane protein 3		C	HIS/ARG,,HIS/ARG	0,4406		0,0,2203	83.0	82.0	82.0		1382,,1382	6.1	1.0	20	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense	FLRT3,MACROD2	NM_013281.3,NM_080676.5,NM_198391.2	29,,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	461/650,,461/650	14306771	1,13005	2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306771C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1382G>A	20.37:g.14306771C>T	ENSP00000367292:p.Arg461His					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R461H	p.R461H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1849	-		Colorectal(1;0.0464)	461			Extracellular (Potential).|Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1382G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116364	0.37339	0.0	1.16E-4	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.42900	0.96;0.96	6.06	6.06	0.98353	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.058369	0.64402	D	0.000007	T	0.45657	0.1353	L	0.58101	1.795	0.58432	D	0.999999	B	0.24721	0.11	B	0.21360	0.034	T	0.30504	-0.9976	10	0.54805	T	0.06	-7.9551	20.6397	0.99537	0.0:1.0:0.0:0.0	.	461	Q9NZU0	FLRT3_HUMAN	H	461	ENSP00000367292:R461H;ENSP00000339912:R461H	ENSP00000339912:R461H	R	-	2	0	FLRT3	14254771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.246000	0.51414	2.880000	0.98712	0.650000	0.86243	CGC		0.463	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1		NM_013281		12	147	0	0	0	0.010729	0	12	147		
MN1	4330	broad.mit.edu	37	22	28195117	28195117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr22:28195117G>A	ENST00000302326.4	-	1	2369	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	472					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCGTTCCACGAAGCGCAGCG	0.662			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NaN		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(1414-1416)TCG>TTG		meningioma  1							17.0	21.0	19.0					22																	28195117		2085	4206	6291	SO:0001583	missense	4330						binding	g.chr22:28195117G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1415C>T	22.37:g.28195117G>A	ENSP00000304956:p.Ser472Leu						p.S472L	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	2370	-			472					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1415C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137929	0.77775	.	.	ENSG00000169184	ENST00000302326	T	0.49432	0.78	4.92	4.92	0.64577	.	0.127328	0.35320	N	0.003292	T	0.40372	0.1114	N	0.19112	0.55	0.38805	D	0.955291	D	0.56746	0.977	P	0.45913	0.497	T	0.49194	-0.8965	10	0.59425	D	0.04	-18.7724	16.7296	0.85431	0.0:0.0:1.0:0.0	.	472	Q10571	MN1_HUMAN	L	472	ENSP00000304956:S472L	ENSP00000304956:S472L	S	-	2	0	MN1	26525117	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	4.584000	0.60971	2.281000	0.76405	0.313000	0.20887	TCG		0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1		NM_002430		9	34	0	0	0	0.058154	0	9	34		
EP300	2033	broad.mit.edu	37	22	41566487	41566487	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr22:41566487A>G	ENST00000263253.7	+	27	5583	c.4364A>G	c.(4363-4365)cAg>cGg	p.Q1455R	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1455	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Q1455R(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTCCTGACCAGAAGATACCC	0.448			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4363-4365)CAG>CGG		E1A binding protein p300							138.0	122.0	127.0					22																	41566487		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566487A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4364A>G	22.37:g.41566487A>G	ENSP00000263253:p.Gln1455Arg						p.Q1455R	NM_001429	NP_001420	Q09472	EP300_HUMAN			27	4759	+			1455					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4364A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409584	0.83340	.	.	ENSG00000100393	ENST00000263253	D	0.94000	-3.33	5.5	5.5	0.81552	.	0.000000	0.46145	D	0.000312	D	0.97873	0.9301	H	0.96748	3.875	0.48236	D	0.999619	D	0.69078	0.997	D	0.79108	0.992	D	0.99323	1.0907	10	0.87932	D	0	-5.1058	15.6131	0.76744	1.0:0.0:0.0:0.0	.	1455	Q09472	EP300_HUMAN	R	1455	ENSP00000263253:Q1455R	ENSP00000263253:Q1455R	Q	+	2	0	EP300	39896433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.237000	0.95368	2.084000	0.62774	0.533000	0.62120	CAG		0.448	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		21	95	0	0	0	0.055883	0	21	95		
TOP2B	7155	broad.mit.edu	37	3	25686873	25686873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:25686873C>T	ENST00000264331.4	-	2	157	c.158G>A	c.(157-159)aGa>aAa	p.R53K	TOP2B_ENST00000435706.2_Missense_Mutation_p.R48K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	53					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTGATACACTCTCTCAACAGA	0.358																																						uc011awn.1		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(157-159)AGA>AAA		DNA topoisomerase II, beta isozyme							202.0	183.0	189.0					3																	25686873		1853	4103	5956	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25686873C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.158G>A	3.37:g.25686873C>T	ENSP00000264331:p.Arg53Lys					TOP2B_uc003cdj.2_Missense_Mutation_p.R48K	p.R53K	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			2	201	-			53					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.158G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.980584	0.74474	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225;ENST00000535930	T;T	0.42513	0.97;0.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	L	0.33245	0.995	0.80722	D	1	B	0.23854	0.092	B	0.19666	0.026	T	0.06770	-1.0808	10	0.31617	T	0.26	-7.8995	19.8426	0.96695	0.0:1.0:0.0:0.0	.	48	Q02880-2	.	K	48;53;48;30	ENSP00000396704:R48K;ENSP00000264331:R53K	ENSP00000264331:R53K	R	-	2	0	TOP2B	25661877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.048000	0.71046	2.775000	0.95449	0.655000	0.94253	AGA		0.358	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding					18	46	0	0	0	0.0333	0	18	46		
RRP9	9136	broad.mit.edu	37	3	51967533	51967533	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:51967533C>T	ENST00000232888.6	-	15	1490	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	473					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CAGGAACCAGCAGCTGGGGGT	0.527																																						uc003dbw.1		NaN																	0				breast(2)|ovary(1)	3						c.(1417-1419)GCT>ACT		RNA, U3 small nucleolar interacting protein 2							65.0	70.0	68.0					3																	51967533		2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51967533C>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1417G>A	3.37:g.51967533C>T	ENSP00000232888:p.Ala473Thr						p.A473T	NM_004704	NP_004695	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	15	1456	-			473					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.1417G>A	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.299952	0.23650	.	.	ENSG00000114767	ENST00000232888	T	0.52983	0.64	5.47	3.64	0.41730	.	0.521196	0.19381	N	0.115661	T	0.28200	0.0696	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09143	-1.0688	10	0.34782	T	0.22	-7.5321	3.7818	0.08683	0.1729:0.5724:0.1667:0.088	.	473	O43818	U3IP2_HUMAN	T	473	ENSP00000232888:A473T	ENSP00000232888:A473T	A	-	1	0	RRP9	51942573	0.618000	0.27051	0.156000	0.22583	0.115000	0.19883	1.508000	0.35769	1.284000	0.44531	0.462000	0.41574	GCT		0.527	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1		NM_004704		8	27	0	0	0	0.047766	0	8	27		
GTF2E1	2960	broad.mit.edu	37	3	120469446	120469446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:120469446G>A	ENST00000283875.5	+	2	140	c.47G>A	c.(46-48)cGg>cAg	p.R16Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	16	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCATTGAAGCGGTTAGCCAAG	0.433																																						uc003edz.3		NaN																	0				ovary(1)	1						c.(46-48)CGG>CAG		general transcription factor IIE, polypeptide 1,							138.0	129.0	132.0					3																	120469446		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469446G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.47G>A	3.37:g.120469446G>A	ENSP00000283875:p.Arg16Gln					GTF2E1_uc003edy.2_Missense_Mutation_p.R16Q	p.R16Q	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	161	+			16			HTH TFE/IIEalpha-type.		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.47G>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708706	0.68615	.	.	ENSG00000153767	ENST00000484715;ENST00000283875;ENST00000492959	T	0.43294	0.95	5.91	4.1	0.47936	Transcription factor TFE/TFIIEalpha HTH domain (1);	0.045245	0.85682	D	0.000000	T	0.30823	0.0777	N	0.26042	0.785	0.58432	D	0.999996	P;P	0.52842	0.814;0.956	P;P	0.45310	0.466;0.476	T	0.03394	-1.1041	10	0.12766	T	0.61	-8.8767	12.1815	0.54214	0.1405:0.0:0.8595:0.0	.	16;16	P29083;Q53F88	T2EA_HUMAN;.	Q	16	ENSP00000283875:R16Q	ENSP00000283875:R16Q	R	+	2	0	GTF2E1	121952136	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.535000	0.73838	1.491000	0.48482	0.650000	0.86243	CGG		0.433	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1		NM_005513		6	110	0	0	0	0.02938	0	6	110		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		10	17	0	0	0	0.024245	0	10	17		
SH3TC1	54436	broad.mit.edu	37	4	8230053	8230053	+	Missense_Mutation	SNP	C	C	T	rs116515695	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:8230053C>T	ENST00000245105.3	+	12	2699	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R802W	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	878										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGACGGGCCGGACGAGGCA	0.677													C|||	19	0.00379393	0.0	0.0086	5008	,	,		17222	0.0		0.008	False		,,,				2504	0.0051				NSCLC(145;2298 2623 35616 37297)	uc003gkv.3		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(2632-2634)CGG>TGG		SH3 domain and tetratricopeptide repeats 1		C	TRP/ARG	12,4392		0,12,2190	43.0	43.0	43.0		2632	-9.1	0.9	4	dbSNP_132	43	92,8500		1,90,4205	yes	missense	SH3TC1	NM_018986.3	101	1,102,6395	TT,TC,CC		1.0708,0.2725,0.8002	benign	878/1337	8230053	104,12892	2202	4296	6498	SO:0001583	missense	54436						binding	g.chr4:8230053C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2632C>T	4.37:g.8230053C>T	ENSP00000245105:p.Arg878Trp					SH3TC1_uc003gkw.3_Missense_Mutation_p.R802W|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.R878W	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	2733	+			878			TPR 5.		Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2632C>T	CCDS3399.1	8	0.003663003663003663	0	0.0	3	0.008287292817679558	0	0.0	5	0.006596306068601583	C	9.522	1.108672	0.20714	0.002725	0.010708	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.67345	-0.26;-0.26	4.54	-9.07	0.00724	Tetratricopeptide-like helical (1);	0.326308	0.32703	N	0.005741	T	0.40398	0.1115	L	0.56769	1.78	0.09310	N	1	P	0.45672	0.864	B	0.38020	0.263	T	0.51818	-0.8657	10	0.72032	D	0.01	-15.5596	8.1675	0.31235	0.2556:0.442:0.0:0.3024	.	878	Q8TE82	S3TC1_HUMAN	W	616;878;802;707	ENSP00000245105:R878W;ENSP00000441045:R802W	ENSP00000245105:R878W	R	+	1	2	SH3TC1	8280953	0.002000	0.14202	0.860000	0.33809	0.003000	0.03518	-0.053000	0.11846	-1.031000	0.03308	-1.569000	0.00873	CGG		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986		4	64	0	0	0	0.009096	0	4	64		
C4orf17	84103	broad.mit.edu	37	4	100458840	100458840	+	Silent	SNP	C	C	G	rs34271979	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:100458840C>G	ENST00000326581.4	+	6	923	c.561C>G	c.(559-561)ctC>ctG	p.L187L	C4orf17_ENST00000514652.1_Silent_p.L187L	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	187										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGGCAAAGCTCTGTAGCATTT	0.373													C|||	5	0.000998403	0.0008	0.0	5008	,	,		19775	0.0		0.004	False		,,,				2504	0.0					uc003huw.2		NaN																	0					0						c.(559-561)CTC>CTG		hypothetical protein LOC84103		C		3,4403	6.2+/-15.9	0,3,2200	134.0	127.0	130.0		561	2.7	1.0	4	dbSNP_126	130	47,8553	30.7+/-82.3	0,47,4253	no	coding-synonymous	C4orf17	NM_032149.2		0,50,6453	GG,GC,CC		0.5465,0.0681,0.3844		187/360	100458840	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	84103							g.chr4:100458840C>G	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.561C>G	4.37:g.100458840C>G						C4orf17_uc003hux.2_RNA	p.L187L	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	6	884	+			187					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	c.561C>G	CCDS3649.1																																																																																				0.373	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2		NM_032149		7	69	0	0	0	0.02938	0	7	69		
TACR3	6870	broad.mit.edu	37	4	104640578	104640578	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:104640578G>A	ENST00000304883.2	-	1	395	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	85					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.I85I(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCAGAGCGCGATGCGCCAGG	0.647																																						uc003hxe.1		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(253-255)ATC>ATT		tachykinin receptor 3							91.0	88.0	89.0					4																	104640578		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640578G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.255C>T	4.37:g.104640578G>A							p.I85I	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	398	-		Hepatocellular(203;0.217)	85			Helical; Name=1; (Potential).		Q0P510	Silent	SNP	ENST00000304883.2	37	c.255C>T	CCDS3664.1																																																																																				0.647	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1		NM_001059		7	93	0	0	0	0.047766	0	7	93		
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				24	102	0	0	0	0.01892	0	24	102		
TRIO	7204	broad.mit.edu	37	5	14485268	14485268	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr5:14485268A>G	ENST00000344204.4	+	47	6772	c.6748A>G	c.(6748-6750)Att>Gtt	p.I2250V	TRIO_ENST00000537187.1_Missense_Mutation_p.I2250V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2250	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGAGACCTTCATTTTGCATTC	0.403																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(6748-6750)ATT>GTT		triple functional domain (PTPRF interacting)							144.0	134.0	137.0					5																	14485268		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485268A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6748A>G	5.37:g.14485268A>G	ENSP00000339299:p.Ile2250Val					TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.I1899V	p.I2250V	NM_007118	NP_009049	O75962	TRIO_HUMAN			47	6754	+	Lung NSC(4;0.000742)		2250			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6748A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	3.193	-0.165343	0.06461	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.18502	2.21;2.21	5.34	1.36	0.22044	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.397630	0.28488	N	0.015180	T	0.06962	0.0177	N	0.10645	0.015	0.28192	N	0.927715	B;B	0.06786	0.001;0.0	B;B	0.14578	0.011;0.0	T	0.39482	-0.9612	10	0.12103	T	0.63	.	8.4226	0.32710	0.4672:0.0:0.5328:0.0	.	2250;2250	O75962-5;O75962	.;TRIO_HUMAN	V	2250;2250;1937	ENSP00000339299:I2250V;ENSP00000446348:I2250V	ENSP00000339299:I2250V	I	+	1	0	TRIO	14538268	0.995000	0.38212	0.999000	0.59377	0.998000	0.95712	0.661000	0.25023	0.271000	0.22005	0.528000	0.53228	ATT		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		20	135	0	0	0	0.055883	0	20	135		
EHMT2	10919	broad.mit.edu	37	6	31854612	31854612	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:31854612C>T	ENST00000375537.4	-	17	2187	c.2181G>A	c.(2179-2181)gtG>gtA	p.V727V	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Silent_p.V784V|EHMT2_ENST00000375528.4_Silent_p.V750V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.V693V	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	727					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGTGGTTGTTCACCACGGCCT	0.637																																						uc003nxz.1		NaN																	0				ovary(1)	1						c.(2179-2181)GTG>GTA		euchromatic histone-lysine N-methyltransferase 2							157.0	144.0	148.0					6																	31854612		2203	4300	6503	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31854612C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2181G>A	6.37:g.31854612C>T						EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.V518V|EHMT2_uc011don.1_Silent_p.V750V|EHMT2_uc003nya.1_Silent_p.V693V	p.V727V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			17	2191	-			727			ANK 3.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.2181G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	9.991	1.230713	0.22542	.	.	ENSG00000204371	ENST00000436026	.	.	.	5.32	4.43	0.53597	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36720	-0.9736	4	.	.	.	.	5.0553	0.14529	0.0:0.5742:0.2373:0.1885	.	.	.	.	K	45	.	.	E	-	1	0	EHMT2	31962591	0.076000	0.21285	1.000000	0.80357	0.998000	0.95712	0.093000	0.15086	2.482000	0.83794	0.650000	0.86243	GAA		0.637	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709		27	170	0	0	0	0.034045	0	27	170		
EHMT2	10919	broad.mit.edu	37	6	31855596	31855596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:31855596C>T	ENST00000375537.4	-	14	1894	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	EHMT2_ENST00000395728.3_Missense_Mutation_p.E687K|EHMT2_ENST00000375528.4_Missense_Mutation_p.E653K|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.E596K	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	630					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCCAGGGCCTCCCGGCCTGGC	0.662																																						uc003nxz.1		NaN																	0				ovary(1)	1						c.(1888-1890)GAG>AAG		euchromatic histone-lysine N-methyltransferase 2							88.0	108.0	101.0					6																	31855596		1509	2706	4215	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31855596C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1888G>A	6.37:g.31855596C>T	ENSP00000364687:p.Glu630Lys					EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.E421K|EHMT2_uc011don.1_Missense_Mutation_p.E653K|EHMT2_uc003nya.1_Missense_Mutation_p.E596K	p.E630K	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			14	1898	-			630					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.1888G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907514	0.92107	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70869	-0.52;-0.39;-0.34;-0.51	5.42	5.42	0.78866	.	0.066012	0.64402	D	0.000013	T	0.68192	0.2974	L	0.29908	0.895	0.49051	D	0.999749	D;D;D;D	0.63880	0.993;0.992;0.972;0.987	D;D;P;P	0.65874	0.926;0.939;0.776;0.858	T	0.64516	-0.6389	10	0.23302	T	0.38	.	17.9856	0.89155	0.0:1.0:0.0:0.0	.	653;596;630;444	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	K	687;653;596;630;444	ENSP00000379078:E687K;ENSP00000364678:E653K;ENSP00000364680:E596K;ENSP00000364687:E630K	ENSP00000364678:E653K	E	-	1	0	EHMT2	31963575	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.013000	0.76373	2.534000	0.85438	0.585000	0.79938	GAG		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709		20	142	0	0	0	0.055883	0	20	142		
ZBTB9	221504	broad.mit.edu	37	6	33423481	33423481	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:33423481G>C	ENST00000395064.2	+	2	872	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	202					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(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGAGGGAAGTGAACTGGGAGA	0.552																																						uc003oeq.2		NaN																	0					0						c.(604-606)GAA>CAA		zinc finger and BTB domain containing 9							70.0	73.0	72.0					6																	33423481		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423481G>C	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.604G>C	6.37:g.33423481G>C	ENSP00000378503:p.Glu202Gln						p.E202Q	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	872	+			202					A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.604G>C	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757658	0.31137	.	.	ENSG00000213588	ENST00000395064	T	0.06528	3.29	5.12	5.12	0.69794	.	2.255740	0.03385	U	0.200947	T	0.02380	0.0073	L	0.32530	0.975	0.27061	N	0.963558	P	0.37466	0.596	B	0.29440	0.102	T	0.32322	-0.9911	10	0.25106	T	0.35	.	13.9215	0.63935	0.0:0.0:1.0:0.0	.	202	Q96C00	ZBTB9_HUMAN	Q	202	ENSP00000378503:E202Q	ENSP00000378503:E202Q	E	+	1	0	ZBTB9	33531459	0.932000	0.31603	1.000000	0.80357	0.992000	0.81027	2.725000	0.47294	2.652000	0.90054	0.563000	0.77884	GAA		0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1		NM_152735		19	106	0	0	0	0.049695	0	19	106		
ADAT2	134637	broad.mit.edu	37	6	143755111	143755111	+	Missense_Mutation	SNP	C	C	A	rs371702532		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:143755111C>A	ENST00000237283.8	-	3	223	c.209G>T	c.(208-210)cGa>cTa	p.R70L	ADAT2_ENST00000606514.1_Missense_Mutation_p.R23L	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	70					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		TTCTGCATGTCGAGTAGCCTG	0.423																																						uc003qjj.2		NaN																	0					0						c.(208-210)CGA>CTA		deaminase domain containing 1							136.0	130.0	132.0					6																	143755111		1982	4164	6146	SO:0001583	missense	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143755111C>A	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.209G>T	6.37:g.143755111C>A	ENSP00000237283:p.Arg70Leu					ADAT2_uc003qjk.1_RNA	p.R70L	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	3	255	-			70					A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	c.209G>T	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720099	0.89205	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	T	0.38240	1.15	4.37	4.37	0.52481	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.17258	-1.0375	10	0.34782	T	0.22	-8.8952	17.1223	0.86705	0.0:1.0:0.0:0.0	.	70	Q7Z6V5	ADAT2_HUMAN	L	23;70	ENSP00000237283:R70L	ENSP00000237283:R70L	R	-	2	0	ADAT2	143796804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.953000	0.75995	2.254000	0.74563	0.650000	0.86243	CGA		0.423	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1		XM_059727		22	146	1	0	7.87624e-14	0.076483	8.66387e-14	22	146		
KATNA1	11104	broad.mit.edu	37	6	149954043	149954044	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:149954043_149954044CC>TT	ENST00000335647.5	-	2	215_216	c.171_172GG>AA	c.(169-174)caGGaa>caAAaa	p.E58K	Y_RNA_ENST00000384562.1_RNA|KATNA1_ENST00000335643.8_Missense_Mutation_p.E58K|KATNA1_ENST00000367411.2_Missense_Mutation_p.E58K					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		ACATTTATTTCCTGCCAAACCT	0.356																																						uc003qmr.1		NaN																	0				skin(1)	1						c.(169-174)CAGGAA>CAAAAA		katanin p60 subunit A 1																																				SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149954043_149954044CC>TT	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.171_172delinsTT	6.37:g.149954043_149954044delinsTT	ENSP00000335106:p.Glu58Lys					KATNA1_uc003qms.2_Missense_Mutation_p.E58K|KATNA1_uc003qmt.2_Missense_Mutation_p.E58K|KATNA1_uc011eed.1_Missense_Mutation_p.E58K	p.E58K	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	2	216_217	-		Ovarian(120;0.0164)	58			Interaction with microtubule.			Missense_Mutation	DNP	ENST00000335647.5	37	c.171_172GG>AA	CCDS5217.1																																																																																				0.356	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2		NM_007044		6	74	0	0	0	0.004672	0	6	74		
ABCB5	340273	broad.mit.edu	37	7	20691117	20691117	+	Silent	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr7:20691117A>G	ENST00000404938.2	+	13	2059	c.1407A>G	c.(1405-1407)caA>caG	p.Q469Q	ABCB5_ENST00000258738.6_Silent_p.Q24Q|ABCB5_ENST00000406935.1_Silent_p.Q24Q|ABCB5_ENST00000443026.2_Silent_p.Q24Q|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	469	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGTTAGTCAAGAGCCTGTTT	0.438																																						uc003suw.3		NaN																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(70-72)CAA>CAG		ATP-binding cassette, sub-family B, member 5							208.0	180.0	190.0					7																	20691117		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20691117A>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1407A>G	7.37:g.20691117A>G						ABCB5_uc010kuh.2_Silent_p.Q469Q|ABCB5_uc003suv.3_Silent_p.Q24Q|ABCB5_uc011jyi.1_Silent_p.Q24Q	p.Q24Q	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			4	618	+			24			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.72A>G	CCDS55090.1																																																																																				0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559		24	96	0	0	0	0.076483	0	24	96		
ZMIZ2	83637	broad.mit.edu	37	7	44802942	44802942	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr7:44802942C>A	ENST00000309315.4	+	13	1913	c.1790C>A	c.(1789-1791)tCc>tAc	p.S597Y	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S597Y|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S571Y|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S565Y|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S539Y	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	597					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCAAGGTGTCCCTGAAGTGC	0.592																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NaN																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(1789-1791)TCC>TAC		zinc finger, MIZ-type containing 2 isoform 1							102.0	114.0	110.0					7																	44802942		2189	4298	6487	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44802942C>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1790C>A	7.37:g.44802942C>A	ENSP00000311778:p.Ser597Tyr					ZMIZ2_uc003tlq.2_Missense_Mutation_p.S539Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.S571Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.S220Y|ZMIZ2_uc010kyj.2_Missense_Mutation_p.S119Y|ZMIZ2_uc003tlu.2_5'Flank	p.S597Y	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			13	1913	+			597			SP-RING-type.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1790C>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295791	0.81025	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.82	4.82	0.62117	Zinc finger, MIZ-type (2);	0.216588	0.31897	N	0.006900	D	0.94574	0.8252	H	0.96430	3.82	0.54753	D	0.999987	B;B;B	0.30146	0.124;0.27;0.229	B;P;P	0.50754	0.436;0.649;0.517	D	0.95060	0.8195	10	0.87932	D	0	-21.3919	17.7538	0.88442	0.0:1.0:0.0:0.0	.	571;597;539	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	Y	539;597;597;565;571;600	ENSP00000409648:S539Y;ENSP00000311778:S597Y;ENSP00000414723:S597Y;ENSP00000396601:S565Y;ENSP00000265346:S571Y	ENSP00000265346:S571Y	S	+	2	0	ZMIZ2	44769467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.516000	0.67055	2.521000	0.84997	0.555000	0.69702	TCC		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1		NM_031449		27	134	1	0	1.66031e-10	0.021523	1.7756e-10	27	134		
CNTNAP2	26047	broad.mit.edu	37	7	147092873	147092873	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr7:147092873G>A	ENST00000361727.3	+	10	2186		c.e10+1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCATAGACAGGTAAATGATCT	0.398										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.e10+1		cell recognition molecule Caspr2 precursor							124.0	109.0	114.0					7																	147092873		2203	4299	6502	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092873G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1670+1G>A	7.37:g.147092873G>A		HNSCC(39;0.1)					p.R557_splice	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2186	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)						D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	ENST00000361727.3	37	c.1670_splice	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354419	0.82243	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	146723806	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	.		0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			Intron	15	117	0	0	0	0.024245	0	15	117		
MYBL1	4603	broad.mit.edu	37	8	67514656	67514656	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr8:67514656G>A	ENST00000522677.3	-	2	533	c.123C>T	c.(121-123)gaC>gaT	p.D41D	MYBL1_ENST00000524176.2_Silent_p.D41D|MYBL1_ENST00000517885.1_Silent_p.D41D	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	41	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAATTACCTCGTCCCTTGTCC	0.403																																						uc003xwj.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(121-123)GAC>GAT		v-myb myeloblastosis viral oncogene homolog							172.0	162.0	165.0					8																	67514656		1867	4096	5963	SO:0001819	synonymous_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67514656G>A	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.123C>T	8.37:g.67514656G>A						MYBL1_uc003xwl.2_Silent_p.D41D|MYBL1_uc003xwk.2_Silent_p.D41D	p.D41D	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		2	530	-			41			HTH myb-type 1.		E7EW29|Q495F9	Silent	SNP	ENST00000522677.3	37	c.123C>T	CCDS47867.1																																																																																				0.403	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3		XM_034274		14	54	0	0	0	0.028581	0	14	54		
TP53INP1	94241	broad.mit.edu	37	8	95952380	95952380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr8:95952380C>T	ENST00000342697.4	-	3	588	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TP53INP1_ENST00000378776.4_Missense_Mutation_p.E61K|TP53INP1_ENST00000448464.2_Missense_Mutation_p.E61K|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	61	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GAAGGGTGCTCAGTAGGTGAC	0.463																																						uc003yhg.2		NaN																	0					0						c.(181-183)GAG>AAG		tumor protein p53 inducible nuclear protein 1							127.0	136.0	133.0					8																	95952380		2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95952380C>T	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.181G>A	8.37:g.95952380C>T	ENSP00000344215:p.Glu61Lys					C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E61K	p.E61K	NM_033285	NP_150601	Q96A56	T53I1_HUMAN			3	565	-	Breast(36;8.75e-07)		61			Glu-rich.		B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.181G>A	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.436012	0.43224	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.41065	1.01;1.01;1.01	6.17	4.38	0.52667	.	0.515173	0.22869	N	0.054649	T	0.21468	0.0517	N	0.08118	0	0.09310	N	0.999999	B;B	0.25904	0.001;0.137	B;B	0.25140	0.002;0.058	T	0.11567	-1.0582	10	0.07813	T	0.8	0.3826	13.4536	0.61184	0.0:0.8721:0.0:0.1279	.	61;61	Q96A56-2;Q96A56	.;T53I1_HUMAN	K	61	ENSP00000390063:E61K;ENSP00000344215:E61K;ENSP00000368052:E61K	ENSP00000344215:E61K	E	-	1	0	TP53INP1	96021556	0.918000	0.31147	0.093000	0.20910	0.990000	0.78478	1.393000	0.34497	1.625000	0.50366	0.655000	0.94253	GAG		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1				17	43	0	0	0	0.028581	0	17	43		
TIMM17B	10245	broad.mit.edu	37	X	48752377	48752377	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chrX:48752377C>T	ENST00000376582.3	-	4	282	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000396779.3_Missense_Mutation_p.R95Q|TIMM17B_ENST00000465150.2_Missense_Mutation_p.R95Q|PQBP1_ENST00000376548.5_5'Flank|PQBP1_ENST00000447146.2_5'Flank|PQBP1_ENST00000376566.4_5'Flank|PQBP1_ENST00000247140.4_5'Flank|PQBP1_ENST00000376563.1_5'Flank|TIMM17B_ENST00000495490.2_Missense_Mutation_p.R65Q	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	45					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAACCGGTGCCGAATTCCCTG	0.547																																						uc004dlc.1		NaN																	0				ovary(1)	1						c.(133-135)CGG>CAG		translocase of inner mitochondrial membrane 17							59.0	40.0	47.0					X																	48752377		2201	4297	6498	SO:0001583	missense	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48752377C>T	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.134G>A	X.37:g.48752377C>T	ENSP00000365766:p.Arg45Gln					PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|TIMM17B_uc004dla.1_Missense_Mutation_p.R95Q|TIMM17B_uc004dlb.1_Missense_Mutation_p.R65Q	p.R45Q	NM_005834	NP_005825	O60830	TI17B_HUMAN			4	283	-			45					A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	37	c.134G>A	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362346	0.24684	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	T;T	0.50001	0.76;1.39	5.56	1.41	0.22369	.	0.313899	0.30630	N	0.009213	T	0.33962	0.0881	L	0.42487	1.325	0.20489	N	0.999893	B	0.02656	0.0	B	0.04013	0.001	T	0.21621	-1.0240	10	0.18276	T	0.48	-5.8513	9.1844	0.37160	0.0:0.6727:0.0:0.3273	.	45	O60830	TI17B_HUMAN	Q	45;95	ENSP00000365766:R45Q;ENSP00000379999:R95Q	ENSP00000365766:R45Q	R	-	2	0	TIMM17B	48637321	0.915000	0.31059	0.938000	0.37757	0.970000	0.65996	0.744000	0.26245	0.083000	0.17047	0.529000	0.55759	CGG		0.547	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2		NM_005834		5	14	0	0	0	0.014758	0	5	14		
MAGEC1	9947	broad.mit.edu	37	X	140995948	140995948	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chrX:140995948C>T	ENST00000285879.4	+	4	3044	c.2758C>T	c.(2758-2760)Ctc>Ttc	p.L920F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	920	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCGGTTTCTTCTCCTCAAATA	0.483										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2758-2760)CTC>TTC		melanoma antigen family C, 1							162.0	158.0	159.0					X																	140995948		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995948C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2758C>T	X.37:g.140995948C>T	ENSP00000285879:p.Leu920Phe	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.L920F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3044	+	Acute lymphoblastic leukemia(192;6.56e-05)		920			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2758C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	8.547	0.874590	0.17395	.	.	ENSG00000155495	ENST00000285879	T	0.20881	2.04	0.837	-0.603	0.11630	.	.	.	.	.	T	0.44180	0.1281	M	0.86864	2.845	0.09310	N	0.999999	D	0.63880	0.993	D	0.68943	0.961	T	0.23332	-1.0191	8	0.87932	D	0	.	.	.	.	.	920	O60732	MAGC1_HUMAN	F	920	ENSP00000285879:L920F	ENSP00000285879:L920F	L	+	1	0	MAGEC1	140823614	0.002000	0.14202	0.001000	0.08648	0.219000	0.24729	0.546000	0.23284	-0.229000	0.09854	0.279000	0.19357	CTC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		75	278	0	0	0	0.048971	0	75	278		
ACAT1	38	broad.mit.edu	37	11	108016949	108016950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:108016949_108016950insA	ENST00000265838.4	+	11	1117_1118	c.1026_1027insA	c.(1027-1029)aaafs	p.K343fs		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	343					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATGTGGGATTGAAAAAAGAAGA	0.307																																						uc001pjy.2		NaN																	0				ovary(3)	3						c.(1024-1029)TTGAAAfs		acetyl-Coenzyme A acetyltransferase 1 precursor	Sulfasalazine(DB00795)																																			SO:0001589	frameshift_variant	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108016949_108016950insA	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1032dupA	11.37:g.108016955_108016955dupA	ENSP00000265838:p.Lys343fs						p.L342fs	NM_000019	NP_000010	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	11	1102_1103	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	342_343					B2R6H1|G3XAB4|Q96FG8	Frame_Shift_Ins	INS	ENST00000265838.4	37	c.1026_1027insA	CCDS8339.1																																																																																				0.307	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1		NM_000019		44	175	NaN	NaN	NaN	NaN	NaN	44	175	---	---
SCN10A	6336	broad.mit.edu	37	3	38739662	38739662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:38739662delG	ENST00000449082.2	-	27	5048	c.5049delC	c.(5047-5049)cccfs	p.P1683fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1683					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CATTGCTGTTGGGCAGATTGG	0.582																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(5047-5049)CCCfs		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						73.0	75.0	74.0					3																	38739662		2203	4300	6503	SO:0001589	frameshift_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739662delG	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5049delC	3.37:g.38739662delG	ENSP00000390600:p.Pro1683fs						p.P1683fs	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5049	-			1683			IV.		A6NDQ1	Frame_Shift_Del	DEL	ENST00000449082.2	37	c.5049delC	CCDS33736.1																																																																																				0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		19	71	NaN	NaN	NaN	NaN	NaN	19	71	---	---
KIAA0196	9897	broad.mit.edu	37	8	126087241	126087241	+	Splice_Site	DEL	T	T	-			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr8:126087241delT	ENST00000318410.7	-	8	1326	c.977delA	c.(976-978)cag>cg	p.Q326fs	KIAA0196_ENST00000517845.1_Splice_Site_p.Q178fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	326					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAACCTACCTGTTCTCTGAC	0.388																																						uc003yrt.2		NaN																	0				ovary(2)	2						c.(976-978)CAGfs		strumpellin							115.0	111.0	112.0					8																	126087241		2203	4300	6503	SO:0001630	splice_region_variant	9897				cell death	WASH complex		g.chr8:126087241delT		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.978+1A>-	8.37:g.126087241delT						KIAA0196_uc011lir.1_Frame_Shift_Del_p.Q178fs	p.Q326fs	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	1306	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		326					A8K4R7|Q3KQX5|Q8TBQ2	Frame_Shift_Del	DEL	ENST00000318410.7	37	c.977delA	CCDS6355.1																																																																																				0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		NM_014846	Frame_Shift_Del	12	95	NaN	NaN	NaN	NaN	NaN	12	95	---	---
