#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADCYAP1R1	117	broad.mit.edu	37	7	31126609	31126609	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:31126609T>G	ENST00000304166.4	+	11	1165	c.876T>G	c.(874-876)gaT>gaG	p.D292E	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271E|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	292					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTACTTTGATGACACAGGGT	0.512																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(874-876)gaT>gaG		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							210.0	187.0	194.0					7																	31126609		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126609T>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.876T>G	7.37:g.31126609T>G	ENSP00000306620:p.Asp292Glu					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271E	p.D292E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			11	1165	+			292					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.876T>G	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.537|2.537	-0.307207|-0.307207	0.05458|0.05458	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489|ENST00000436116	T;T;T;T|.	0.38560|.	1.13;1.23;1.23;1.23|.	5.56|5.56	0.326|0.326	0.15908|0.15908	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.25195|.	0.0612|.	N|N	0.02830|0.02830	-0.485|-0.485	0.53005|0.53005	D|D	0.999966|0.999966	B;B;B;B;B|.	0.23990|.	0.095;0.034;0.095;0.012;0.034|.	B;B;B;B;B|.	0.31390|.	0.068;0.041;0.129;0.041;0.041|.	T|.	0.04078|.	-1.0979|.	10|.	0.02654|.	T|.	1|.	.|.	9.1418|9.1418	0.36908|0.36908	0.0:0.3048:0.0:0.6952|0.0:0.3048:0.0:0.6952	.|.	292;292;292;271;292|.	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586|.	.;.;.;.;PACR_HUMAN|.	E|G	292;63;271;292;292|9	ENSP00000306620:D292E;ENSP00000387335:D271E;ENSP00000379514:D292E;ENSP00000386395:D292E|.	ENSP00000306620:D292E|.	D|X	+|+	3|1	2|0	ADCYAP1R1|ADCYAP1R1	31093134|31093134	1.000000|1.000000	0.71417|0.71417	0.742000|0.742000	0.31022|0.31022	0.585000|0.585000	0.36419|0.36419	0.555000|0.555000	0.23422|0.23422	0.062000|0.062000	0.16340|0.16340	0.528000|0.528000	0.53228|0.53228	GAT|TGA		0.512	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		20	135	0	0	0	1	0	20	135				
EVC2	132884	broad.mit.edu	37	4	5576482	5576482	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr4:5576482T>C	ENST00000344408.5	-	19	3343	c.3290A>G	c.(3289-3291)cAg>cGg	p.Q1097R	EVC2_ENST00000310917.2_Missense_Mutation_p.Q1017R|EVC2_ENST00000344938.1_Missense_Mutation_p.Q1097R	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1097					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GACACTGTTCTGTTGTTCCTC	0.408																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3049-3051)cAg>cGg		Ellis van Creveld syndrome 2							179.0	159.0	166.0					4																	5576482		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5576482T>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3290A>G	4.37:g.5576482T>C	ENSP00000342144:p.Gln1097Arg					EVC2_ENST00000344938.1_Missense_Mutation_p.Q1097R|EVC2_ENST00000344408.5_Missense_Mutation_p.Q1097R	p.Q1017R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			19	3781	-			1097					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3050A>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	7.976	0.750231	0.15778	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74842	-0.88;-0.88;-0.88	4.74	2.3	0.28687	.	1.092240	0.06824	N	0.792776	T	0.57562	0.2062	N	0.24115	0.695	0.09310	N	1	P	0.34462	0.454	B	0.32805	0.153	T	0.42464	-0.9450	10	0.18276	T	0.48	-12.788	6.0941	0.20010	0.0:0.2046:0.0:0.7954	.	1097	Q86UK5	LBN_HUMAN	R	1097;1017;1097	ENSP00000339954:Q1097R;ENSP00000311683:Q1017R;ENSP00000342144:Q1097R	ENSP00000311683:Q1017R	Q	-	2	0	EVC2	5627383	0.933000	0.31639	0.002000	0.10522	0.002000	0.02628	0.907000	0.28531	0.332000	0.23536	-0.250000	0.11733	CAG		0.408	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		16	76	0	0	0	1	0	16	76				
SVEP1	79987	broad.mit.edu	37	9	113170553	113170553	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr9:113170553G>T	ENST00000401783.2	-	38	7663	c.7327C>A	c.(7327-7329)Cct>Act	p.P2443T	SVEP1_ENST00000297826.5_Missense_Mutation_p.P369T|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2420T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2443	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTCCTCAGGTTGGGGACAT	0.498																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7327-7329)Cct>Act		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56.0	54.0	55.0					9																	113170553		1936	4147	6083	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170553G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7327C>A	9.37:g.113170553G>T	ENSP00000384917:p.Pro2443Thr					SVEP1_ENST00000374469.1_Missense_Mutation_p.P2420T|SVEP1_ENST00000297826.5_Missense_Mutation_p.P369T	p.P2443T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7663	-			2443			Sushi 18.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7327C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832232	0.71258	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	D;D;D	0.84800	-1.9;-1.9;-1.9	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91842	0.5484	10	0.28530	T	0.3	.	19.819	0.96583	0.0:0.0:1.0:0.0	.	2443	Q4LDE5	SVEP1_HUMAN	T	2443;2420;369;115	ENSP00000384917:P2443T;ENSP00000363593:P2420T;ENSP00000297826:P369T	ENSP00000297826:P369T	P	-	1	0	SVEP1	112210374	1.000000	0.71417	0.976000	0.42696	0.934000	0.57294	9.622000	0.98378	2.691000	0.91804	0.655000	0.94253	CCT		0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	61	1	0	0.00024832	1	0.00026638	4	61				
RAD18	56852	broad.mit.edu	37	3	8944154	8944154	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:8944154C>T	ENST00000264926.2	-	10	1194	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	360					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTGTATCCTTTTCTAGCC	0.343								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1078-1080)Gga>Aga	Rad6 pathway	RAD18 homolog (S. cerevisiae)							156.0	146.0	150.0					3																	8944154		2203	4300	6503	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944154C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1078G>A	3.37:g.8944154C>T	ENSP00000264926:p.Gly360Arg						p.G360R	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1194	-			360					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1078G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.149657	0.01714	.	.	ENSG00000070950	ENST00000264926	T	0.20332	2.08	4.78	2.85	0.33270	.	0.069223	0.64402	D	0.000015	T	0.13798	0.0334	L	0.36672	1.1	0.28814	N	0.898063	B	0.02656	0.0	B	0.01281	0.0	T	0.12993	-1.0526	9	.	.	.	2.3715	6.9182	0.24371	0.1893:0.6001:0.2105:0.0	.	360	Q9NS91	RAD18_HUMAN	R	360	ENSP00000264926:G360R	.	G	-	1	0	RAD18	8919154	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	1.568000	0.36418	1.192000	0.43071	0.563000	0.77884	GGA		0.343	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		5	55	0	0	0	1	0	5	55				
MUC17	140453	broad.mit.edu	37	7	100683986	100683986	+	Missense_Mutation	SNP	A	A	T	rs534027626		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:100683986A>T	ENST00000306151.4	+	3	9353	c.9289A>T	c.(9289-9291)Atc>Ttc	p.I3097F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3097	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATGCCAATCTCAACTTA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9289-9291)Atc>Ttc		mucin 17, cell surface associated							262.0	265.0	264.0					7																	100683986		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683986A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9289A>T	7.37:g.100683986A>T	ENSP00000302716:p.Ile3097Phe						p.I3097F	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9353	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3097			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9289A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	9.324	1.058737	0.19987	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	1.15	-2.29	0.06805	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	P	0.44006	0.824	P	0.58520	0.84	T	0.38436	-0.9661	9	0.62326	D	0.03	.	0.4182	0.00452	0.2:0.2411:0.3172:0.2417	.	3097	Q685J3	MUC17_HUMAN	F	3097	ENSP00000302716:I3097F	ENSP00000302716:I3097F	I	+	1	0	MUC17	100470706	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.559000	0.06110	0.102000	0.15555	ATC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	701	0	0	0	1	0	6	701				
FAM50B	26240	broad.mit.edu	37	6	3850337	3850337	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:3850337C>T	ENST00000380274.1	+	1	718	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R98W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	98						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGAGGagcagcggctgcagca	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(292-294)Cgg>Tgg		family with sequence similarity 50, member B							11.0	16.0	14.0					6																	3850337		2192	4284	6476	SO:0001583	missense	26240					nucleus		g.chr6:3850337C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.292C>T	6.37:g.3850337C>T	ENSP00000369627:p.Arg98Trp					FAM50B_ENST00000380272.3_Missense_Mutation_p.R98W	p.R98W			Q9Y247	FA50B_HUMAN			1	718	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	98					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.292C>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356274	0.41700	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.17	-0.209	0.13180	.	0.294875	0.31577	N	0.007402	T	0.26231	0.0640	N	0.22421	0.69	0.09310	N	1	D	0.57899	0.981	P	0.58970	0.849	T	0.33803	-0.9854	9	0.72032	D	0.01	-19.7017	11.9673	0.53042	0.5934:0.4066:0.0:0.0	.	98	Q9Y247	FA50B_HUMAN	W	98	.	ENSP00000369625:R98W	R	+	1	2	FAM50B	3795336	0.012000	0.17670	0.001000	0.08648	0.127000	0.20565	-0.003000	0.12901	-0.152000	0.11156	0.485000	0.47835	CGG		0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	32	0	0	0	1	0	3	32				
BRINP2	57795	broad.mit.edu	37	1	177247905	177247905	+	Missense_Mutation	SNP	C	C	T	rs146557924		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:177247905C>T	ENST00000361539.4	+	7	1531	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	407					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GCCTCGCTTCCGCCTGCCCAA	0.612																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1219-1221)Cgc>Tgc				C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	44.0	45.0	45.0		1219	4.5	1.0	1	dbSNP_134	45	0,8600		0,0,4300	no	missense	FAM5B	NM_021165.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	407/784	177247905	1,13005	2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177247905C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1219C>T	1.37:g.177247905C>T	ENSP00000354481:p.Arg407Cys					FAM5B_ENST00000478325.1_3'UTR	p.R407C	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1531	+			407					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1219C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895732	0.52121	2.27E-4	0.0	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14893	2.47	5.39	4.46	0.54185	.	0.180201	0.48767	D	0.000162	T	0.20740	0.0499	L	0.36672	1.1	0.39227	D	0.963612	D;D;D	0.76494	0.997;0.999;0.978	P;P;B	0.53861	0.736;0.711;0.249	T	0.01027	-1.1476	10	0.66056	D	0.02	-20.5751	7.7831	0.29077	0.2552:0.6626:0.0:0.0822	.	157;302;407	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	C	157;407	ENSP00000354481:R407C	ENSP00000354481:R407C	R	+	1	0	FAM5B	175514528	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.469000	0.45110	2.528000	0.85240	0.655000	0.94253	CGC		0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		4	125	0	0	0	1	0	4	125				
AFF3	3899	broad.mit.edu	37	2	100209992	100209992	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:100209992C>A	ENST00000409236.2	-	13	2243	c.2131G>T	c.(2131-2133)Gcc>Tcc	p.A711S	AFF3_ENST00000356421.2_Missense_Mutation_p.A736S|AFF3_ENST00000317233.4_Missense_Mutation_p.A711S|AFF3_ENST00000409579.1_Missense_Mutation_p.A736S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	711					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGGCAGCGGCCTCCTTCAGC	0.632																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2131-2133)Gcc>Tcc		AF4/FMR2 family, member 3							54.0	58.0	57.0					2																	100209992		2202	4300	6502	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209992C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2131G>T	2.37:g.100209992C>A	ENSP00000387207:p.Ala711Ser					AFF3_ENST00000409236.1_Missense_Mutation_p.A711S|AFF3_ENST00000356421.2_Missense_Mutation_p.A736S|AFF3_ENST00000409579.1_Missense_Mutation_p.A736S	p.A711S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2366	-			711					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2131G>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943133	0.02322	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.17	3.36	0.38483	.	3.212870	0.00610	N	0.000404	T	0.45013	0.1321	N	0.16166	0.38	0.09310	N	1	B;B;B	0.19445	0.036;0.021;0.017	B;B;B	0.21917	0.037;0.015;0.009	T	0.37957	-0.9683	10	0.09084	T	0.74	.	6.2104	0.20626	0.2664:0.5802:0.0:0.1534	.	864;711;736	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	S	711;736;736;711;711;864;736	ENSP00000317421:A711S;ENSP00000348793:A736S;ENSP00000386834:A736S;ENSP00000387207:A711S	ENSP00000317421:A711S	A	-	1	0	AFF3	99576424	0.988000	0.35896	0.938000	0.37757	0.570000	0.35934	-0.229000	0.09098	0.577000	0.29470	0.561000	0.74099	GCC		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		14	142	1	0	4.14922e-12	1	4.70777e-12	14	142				
PRKX	5613	broad.mit.edu	37	X	3573441	3573441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:3573441C>T	ENST00000262848.5	-	3	702	c.348G>A	c.(346-348)tgG>tgA	p.W116*	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCTCGTCATGCCACGTCCAGA	0.662																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(346-348)tgG>tgA		protein kinase, X-linked							48.0	41.0	44.0					X																	3573441		2203	4300	6503	SO:0001587	stop_gained	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573441C>T		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.348G>A	X.37:g.3573441C>T	ENSP00000262848:p.Trp116*					PRKX_ENST00000425240.1_5'UTR	p.W116*	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			3	702	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	116			Protein kinase.			Nonsense_Mutation	SNP	ENST00000262848.5	37	c.348G>A	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200339	0.79015	.	.	ENSG00000183943	ENST00000262848	.	.	.	3.41	-1.93	0.07594	.	0.721855	0.13943	N	0.352049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.224	1.1892	0.01862	0.2716:0.2961:0.2916:0.1408	.	.	.	.	X	116	.	ENSP00000262848:W116X	W	-	3	0	PRKX	3583441	0.975000	0.34042	0.029000	0.17559	0.074000	0.17049	0.036000	0.13819	-0.387000	0.07809	-0.347000	0.07816	TGG		0.662	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		3	27	0	0	0	1	0	3	27				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	87	0	0	0	1	0	4	87				
FBXO30	84085	broad.mit.edu	37	6	146125919	146125919	+	Silent	SNP	A	A	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:146125919A>C	ENST00000237281.4	-	2	1789	c.1623T>G	c.(1621-1623)ggT>ggG	p.G541G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	541							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CATGAATGTCACCATGCACAT	0.423																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1621-1623)ggT>ggG		F-box protein 30							112.0	102.0	105.0					6																	146125919		2203	4299	6502	SO:0001819	synonymous_variant	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146125919A>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1623T>G	6.37:g.146125919A>C							p.G541G	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1789	-		Ovarian(120;0.0776)	541					Q9BXZ7	Silent	SNP	ENST00000237281.4	37	c.1623T>G	CCDS5208.1																																																																																				0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			14	116	0	0	0	1	0	14	116				
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104.0	104.0	104.0		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	273	0	0	0	1	0	5	273				
SLC9A7P1	121456	broad.mit.edu	37	12	98849035	98849035	+	RNA	SNP	C	C	A	rs189726820		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:98849035C>A	ENST00000554295.1	-	0	1888					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		CGCTGTGTCTCCACCAGGCGG	0.597																																						ENST00000554295.1																			0																																																			0							g.chr12:98849035C>A			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849035C>A								NR_033801.1						0	1888	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.597	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			4	8	1	0	1	1	1	4	8				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		8	81	0	0	0	1	0	8	81				
MAP1A	4130	broad.mit.edu	37	15	43817087	43817087	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:43817087G>C	ENST00000300231.5	+	4	3866	c.3416G>C	c.(3415-3417)aGa>aCa	p.R1139T	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1139T|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1377T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1139					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGGTGCTCAGATATCCTGAC	0.567																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4129-4131)aGa>aCa		microtubule-associated protein 1A	Estramustine(DB01196)						72.0	79.0	77.0					15																	43817087		2003	4165	6168	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817087G>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3416G>C	15.37:g.43817087G>C	ENSP00000300231:p.Arg1139Thr					MAP1A_ENST00000300231.5_Missense_Mutation_p.R1139T|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1139T	p.R1377T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4161	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1139					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4130G>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	3.304	-0.142305	0.06669	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01438	4.89;4.89;4.89	4.99	-1.52	0.08637	.	1.529200	0.04861	N	0.444054	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.24155	0.051	T	0.48055	-0.9068	10	0.13108	T	0.6	1.9492	4.5103	0.11908	0.4878:0.0:0.3637:0.1485	.	1139	P78559	MAP1A_HUMAN	T	1377;1139;1139	ENSP00000371462:R1377T;ENSP00000382380:R1139T;ENSP00000300231:R1139T	ENSP00000300231:R1139T	R	+	2	0	MAP1A	41604379	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	0.024000	0.13555	-0.446000	0.07149	-0.302000	0.09304	AGA		0.567	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	118	0	0	0	1	0	12	118				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	100	0	0	0	1	0	6	100				
GLTSCR1L	23506	broad.mit.edu	37	6	42833111	42833111	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:42833111C>T	ENST00000314073.5	+	13	3343	c.3167C>T	c.(3166-3168)cCg>cTg	p.P1056L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1056L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	1056																	AAGTTCATCCCGGACCACAGT	0.498																																						ENST00000314073.5																			0											c.(3166-3168)cCg>cTg		GLTSCR1-like							81.0	91.0	87.0					6																	42833111		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42833111C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.3167C>T	6.37:g.42833111C>T	ENSP00000313933:p.Pro1056Leu					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1056L	p.P1056L							13	3343	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.3167C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397348	0.83120	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.53206	0.63;0.63	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	T	0.27419	0.0673	L	0.27053	0.805	0.58432	D	0.999996	P	0.34837	0.472	B	0.32928	0.155	T	0.26677	-1.0096	10	0.87932	D	0	-16.0856	19.3172	0.94220	0.0:1.0:0.0:0.0	.	1056	Q6AI39	K0240_HUMAN	L	1056	ENSP00000313933:P1056L;ENSP00000377723:P1056L	ENSP00000313933:P1056L	P	+	2	0	KIAA0240	42941089	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.288000	0.65651	2.560000	0.86352	0.591000	0.81541	CCG		0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		4	170	0	0	0	1	0	4	170				
ZCCHC24	219654	broad.mit.edu	37	10	81154106	81154106	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:81154106T>C	ENST00000372336.3	-	3	724	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.D120G	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	180							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTCCCGCTCATCCATTTTCTC	0.592																																						ENST00000372336.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(538-540)Atg>Gtg		zinc finger, CCHC domain containing 24							182.0	141.0	155.0					10																	81154106		2203	4300	6503	SO:0001583	missense	219654						nucleic acid binding|zinc ion binding	g.chr10:81154106T>C	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.538A>G	10.37:g.81154106T>C	ENSP00000361411:p.Met180Val					ZCCHC24_ENST00000372333.3_Missense_Mutation_p.D120G|RP11-342M3.5_ENST00000438554.2_RNA	p.M180V	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN			3	724	-			180					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.538A>G	CCDS7359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.18|17.18	3.324329|3.324329	0.60634|0.60634	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372333|ENST00000372336	.|T	.|0.21932	.|1.98	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.47716|0.47716	1.5|1.5	0.29528|0.29528	N|N	0.853026|0.853026	D|D	0.89917|0.53312	1.0|0.959	D|P	0.72982|0.54544	0.979|0.755	T|T	0.16129|0.16129	-1.0413|-1.0413	8|10	0.87932|0.59425	D|D	0|0.04	-12.9731|-12.9731	15.2624|15.2624	0.73634|0.73634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	120|180	Q5W133|Q8N2G6	.|ZCH24_HUMAN	G|V	120|180	.|ENSP00000361411:M180V	ENSP00000361408:D120G|ENSP00000361411:M180V	D|M	-|-	2|1	0|0	ZCCHC24|ZCCHC24	80824112|80824112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.684000|7.684000	0.84104|0.84104	2.006000|2.006000	0.58801|0.58801	0.421000|0.421000	0.28195|0.28195	GAT|ATG		0.592	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		9	151	0	0	0	1	0	9	151				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	128	0	0	0	1	0	5	128				
CCDC59	29080	broad.mit.edu	37	12	82746933	82746933	+	Silent	SNP	A	A	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:82746933A>G	ENST00000256151.7	-	4	1134	c.723T>C	c.(721-723)tgT>tgC	p.C241C	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						AAAATGTTTAACATTTTTCTT	0.343																																						ENST00000256151.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						c.(721-723)tgT>tgC		coiled-coil domain containing 59							116.0	113.0	114.0					12																	82746933		2203	4300	6503	SO:0001819	synonymous_variant	29080				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr12:82746933A>G	AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.723T>C	12.37:g.82746933A>G						CCDC59_ENST00000548126.1_5'UTR	p.C241C	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN			4	1134	-			241					Q9H2V5|Q9NW62	Silent	SNP	ENST00000256151.7	37	c.723T>C	CCDS9023.1																																																																																				0.343	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167		7	51	0	0	0	1	0	7	51				
B3GALNT2	148789	broad.mit.edu	37	1	235647823	235647823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:235647823G>A	ENST00000366600.3	-	4	598	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.Q165*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	124					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TCAATTTCCTGATTCAAAACT	0.413																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(370-372)Cag>Tag		beta-1,3-N-acetylgalactosaminyltransferase 2							108.0	110.0	109.0					1																	235647823		2203	4300	6503	SO:0001587	stop_gained	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235647823G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.370C>T	1.37:g.235647823G>A	ENSP00000355559:p.Gln124*					B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.Q165*|B3GALNT2_ENST00000478199.1_5'UTR	p.Q124*	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		4	598	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	124					Q59GR3|Q5TCI3|Q96AL7	Nonsense_Mutation	SNP	ENST00000366600.3	37	c.370C>T	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	38	7.165534	0.98107	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.84	4.84	0.62591	.	0.260195	0.39083	N	0.001467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.1659	17.0145	0.86414	0.0:0.0:1.0:0.0	.	.	.	.	X	165;124;165	.	ENSP00000315678:Q165X	Q	-	1	0	B3GALNT2	233714446	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.940000	0.75917	2.629000	0.89072	0.655000	0.94253	CAG		0.413	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		8	188	0	0	0	1	0	8	188				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	285	0	0	0	1	0	6	285				
BCOR	54880	broad.mit.edu	37	X	39911629	39911629	+	Silent	SNP	C	C	T	rs375878497		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:39911629C>T	ENST00000378444.4	-	15	5229	c.5001G>A	c.(4999-5001)tcG>tcA	p.S1667S	BCOR_ENST00000397354.3_Silent_p.S1633S|BCOR_ENST00000378463.1_Silent_p.S510S|BCOR_ENST00000378455.4_Silent_p.S1615S|BCOR_ENST00000342274.4_Silent_p.S1633S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1667	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAAGGACATCCGAAAGCAGTA	0.403			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4897-4899)tcG>tcA		BCL6 corepressor		C	,,,	1,3832		0,1,1630,571	43.0	41.0	41.0		4899,4845,5001,4899	-8.9	0.0	X		41	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	,,,	0,2,4057,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	,,,	1633/1722,1615/1704,1667/1756,1633/1722	39911629	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911629C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5001G>A	X.37:g.39911629C>T						BCOR_ENST00000378455.4_Silent_p.S1615S|BCOR_ENST00000397354.3_Silent_p.S1633S|BCOR_ENST00000378463.1_Silent_p.S510S|BCOR_ENST00000378444.4_Silent_p.S1667S	p.S1633S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			15	5261	-			1667					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4899G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297755	0.23650	2.61E-4	1.49E-4	ENSG00000183337	ENST00000427012	.	.	.	5.5	-8.85	0.00799	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39121	-0.9629	4	.	.	.	-13.3181	1.9765	0.03417	0.1927:0.2191:0.387:0.2012	.	.	.	.	R	284	.	.	G	-	1	0	BCOR	39796573	0.002000	0.14202	0.021000	0.16686	0.546000	0.35178	-1.511000	0.02260	-2.098000	0.00850	-1.275000	0.01399	GGA		0.403	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	37	0	0	0	1	0	3	37				
NEURL1	9148	broad.mit.edu	37	10	105330664	105330664	+	Silent	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:105330664C>A	ENST00000369780.4	+	2	530	c.121C>A	c.(121-123)Cga>Aga	p.R41R	NEURL_ENST00000369777.2_Silent_p.R24R	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		41					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CACTTCTCACCGATGCCACCA	0.647																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(121-123)Cga>Aga									100.0	117.0	111.0					10																	105330664		2203	4300	6503	SO:0001819	synonymous_variant	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330664C>A																												ENST00000369780.4:c.121C>A	10.37:g.105330664C>A						NEURL_ENST00000369777.2_Silent_p.R24R	p.R41R	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	530	+			41					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.121C>A	CCDS7551.1																																																																																				0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			5	339	1	0	0.217242	1	0.220988	5	339				
TTN	7273	broad.mit.edu	37	2	179428058	179428058	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:179428058G>T	ENST00000591111.1	-	276	78102	c.77878C>A	c.(77878-77880)Cct>Act	p.P25960T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18728T|TTN_ENST00000342992.6_Missense_Mutation_p.P25033T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18661T|TTN_ENST00000460472.2_Missense_Mutation_p.P18536T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P27601T			Q8WZ42	TITIN_HUMAN	titin	25960	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTAACAGGTGCGCCACCA	0.493																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82801-82803)Cct>Act		titin							73.0	73.0	73.0					2																	179428058		2044	4207	6251	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428058G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77878C>A	2.37:g.179428058G>T	ENSP00000465570:p.Pro25960Thr					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25960T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18661T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25033T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18536T|TTN_ENST00000342175.6_Missense_Mutation_p.P18728T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.P27601T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	83025	-			25960			Fibronectin type-III 101.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82801C>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516342	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61763	0.2373	M	0.72624	2.21	0.29193	N	0.875735	P;P;P;P	0.43231	0.669;0.669;0.669;0.801	B;B;B;B	0.38106	0.265;0.265;0.265;0.265	T	0.66035	-0.6023	9	0.87932	D	0	.	19.9187	0.97077	0.0:0.0:1.0:0.0	.	18536;18661;18728;25960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25033;18536;18728;18661;18534	ENSP00000343764:P25033T;ENSP00000434586:P18536T;ENSP00000340554:P18728T;ENSP00000352154:P18661T	ENSP00000340554:P18728T	P	-	1	0	TTN	179136304	1.000000	0.71417	0.629000	0.29254	0.994000	0.84299	3.353000	0.52247	2.710000	0.92621	0.563000	0.77884	CCT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	70	1	0	1.12685e-05	1	1.25442e-05	9	70				
SMARCA1	6594	broad.mit.edu	37	X	128599549	128599549	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:128599549C>G	ENST00000371122.4	-	23	3107	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R981P|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R981P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	993	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGGAGCATTTCGTACACACTG	0.338																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2977-2979)cGa>cCa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							175.0	160.0	165.0					X																	128599549		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599549C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2978G>C	X.37:g.128599549C>G	ENSP00000360163:p.Arg993Pro					SMARCA1_ENST00000371121.3_Missense_Mutation_p.R981P|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R981P	p.R993P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	3107	-			993			SANT 2.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2978G>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540651	0.85917	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.0	5.63	5.63	0.86233	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000007	D	0.97170	0.9075	M	0.92923	3.36	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	D	0.97996	1.0357	10	0.87932	D	0	-8.6409	18.6879	0.91571	0.0:1.0:0.0:0.0	.	972;993;981;993	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	P	981;981;993;972	ENSP00000360162:R981P;ENSP00000360164:R981P;ENSP00000360163:R993P;ENSP00000404275:R972P	ENSP00000360162:R981P	R	-	2	0	SMARCA1	128427230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.737000	0.84957	2.358000	0.79984	0.538000	0.68166	CGA		0.338	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		21	48	0	0	0	1	0	21	48				
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787						cytoplasm (GO:0005737)		p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612																																						ENST00000342740.5																			3	Substitution - Missense(3)	p.R787W(3)	prostate(2)|lung(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2359-2361)Cgg>Tgg		leucine rich repeat containing 16B							73.0	63.0	67.0					14																	24530760		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24530760C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2359C>T	14.37:g.24530760C>T	ENSP00000340467:p.Arg787Trp					LRRC16B_ENST00000334420.7_5'UTR	p.R787W	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	27	2513	+			787					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2359C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955757	0.53293	.	.	ENSG00000186648	ENST00000342740	T	0.15718	2.4	5.27	3.36	0.38483	.	0.174329	0.40144	N	0.001165	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.03166	-1.1065	10	0.87932	D	0	-14.9968	10.8426	0.46724	0.3396:0.6604:0.0:0.0	.	787	Q8ND23	LR16B_HUMAN	W	787	ENSP00000340467:R787W	ENSP00000340467:R787W	R	+	1	2	LRRC16B	23600600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.748000	0.26305	1.430000	0.47334	-0.182000	0.12963	CGG		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		4	45	0	0	0	1	0	4	45				
MLH1	4292	broad.mit.edu	37	3	37035090	37035090	+	Missense_Mutation	SNP	C	C	T	rs367654552		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37035090C>T	ENST00000231790.2	+	1	268	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	18			R -> C (in HNPCC2). {ECO:0000269|PubMed:14635101}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTGGTGAACCGCATCGCGGC	0.567		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		0				NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CD015054|CM033399	MLH1	D|M	rs63749804	c.(52-54)Cgc>Tgc	Mismatch excision repair (MMR)	mutL homolog 1		C	CYS/ARG	0,4406		0,0,2203	97.0	90.0	92.0		52	6.0	1.0	3		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLH1	NM_000249.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	18/757	37035090	1,13005	2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37035090C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.52C>T	3.37:g.37035090C>T	ENSP00000231790:p.Arg18Cys						p.R18C	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			1	268	+			18		R -> C (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.52C>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	36	5.763710	0.96906	0.0	1.16E-4	ENSG00000076242	ENST00000231790	D	0.90788	-2.73	5.98	5.98	0.97165	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.054326	0.64402	D	0.000001	D	0.95859	0.8652	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95755	0.8795	10	0.87932	D	0	-13.7676	19.2211	0.93797	0.0:1.0:0.0:0.0	.	18;18	Q53GX1;P40692	.;MLH1_HUMAN	C	18	ENSP00000231790:R18C	ENSP00000231790:R18C	R	+	1	0	MLH1	37010094	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.225000	0.65294	2.838000	0.97847	0.563000	0.77884	CGC		0.567	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		17	120	0	0	0	1	0	17	120				
ASPRV1	151516	broad.mit.edu	37	2	70187960	70187960	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:70187960A>T	ENST00000320256.4	-	1	1437	c.861T>A	c.(859-861)gaT>gaA	p.D287E	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTGGAGCACATCAGTGCCAA	0.567																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(859-861)gaT>gaA		aspartic peptidase, retroviral-like 1							158.0	140.0	146.0					2																	70187960		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187960A>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.861T>A	2.37:g.70187960A>T	ENSP00000315383:p.Asp287Glu						p.D287E	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1437	-			287			Peptidase A2.			Missense_Mutation	SNP	ENST00000320256.4	37	c.861T>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785622	0.70337	.	.	ENSG00000244617	ENST00000320256	T	0.68624	-0.34	5.09	-1.51	0.08664	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.48286	D	0.000194	T	0.64327	0.2588	N	0.19112	0.55	0.27642	N	0.947671	D	0.76494	0.999	D	0.85130	0.997	T	0.60939	-0.7163	10	0.87932	D	0	-25.4144	9.3018	0.37851	0.5964:0.0:0.4036:0.0	.	287	Q53RT3	APRV1_HUMAN	E	287	ENSP00000315383:D287E	ENSP00000315383:D287E	D	-	3	2	ASPRV1	70041464	0.689000	0.27690	0.958000	0.39756	0.933000	0.57130	-0.497000	0.06428	-0.229000	0.09854	-0.242000	0.12053	GAT		0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		27	147	0	0	0	1	0	27	147				
ANXA2	302	broad.mit.edu	37	15	60656720	60656720	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:60656720C>T	ENST00000396024.3	-	5	310	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000451270.2_Missense_Mutation_p.V51M|ANXA2_ENST00000421017.2_Missense_Mutation_p.V51M|ANXA2_ENST00000332680.4_Missense_Mutation_p.V69M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	51					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	ACCTCATCCACACCTATGGAA	0.408																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(151-153)Gtg>Atg		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						135.0	105.0	115.0					15																	60656720		2203	4300	6503	SO:0001583	missense	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60656720C>T	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.151G>A	15.37:g.60656720C>T	ENSP00000379342:p.Val51Met					ANXA2_ENST00000332680.4_Missense_Mutation_p.V69M|ANXA2_ENST00000451270.2_Missense_Mutation_p.V51M|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000421017.2_Missense_Mutation_p.V51M	p.V51M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			5	310	-			51					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.151G>A	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468213	0.84533	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.149951	0.42548	U	0.000697	T	0.22975	0.0555	M	0.85777	2.775	0.54753	D	0.999989	D;P;P	0.76494	0.999;0.912;0.943	D;B;P	0.75020	0.985;0.404;0.666	T	0.00149	-1.1988	10	0.87932	D	0	.	19.0853	0.93201	0.0:1.0:0.0:0.0	.	51;69;51	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	M	51;69;51;51	ENSP00000379342:V51M;ENSP00000346032:V69M;ENSP00000411352:V51M;ENSP00000387545:V51M	ENSP00000346032:V69M	V	-	1	0	ANXA2	58444012	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.194000	0.65125	2.814000	0.96858	0.585000	0.79938	GTG		0.408	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		6	54	0	0	0	1	0	6	54				
RNF213	57674	broad.mit.edu	37	17	78314067	78314067	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:78314067A>G	ENST00000582970.1	+	26	6043	c.5900A>G	c.(5899-5901)tAc>tGc	p.Y1967C	RNF213_ENST00000336301.6_Missense_Mutation_p.Y40C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2016C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1967					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGTCACTACCGGGTCCCG	0.642																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(5899-5901)tAc>tGc		ring finger protein 213							58.0	45.0	49.0					17																	78314067		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78314067A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5900A>G	17.37:g.78314067A>G	ENSP00000464087:p.Tyr1967Cys					RNF213_ENST00000336301.6_Missense_Mutation_p.Y40C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2016C	p.Y1967C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		26	6043	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.5900A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	2.985	-0.209551	0.06140	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.27890	1.64	5.14	-4.14	0.03892	.	0.427258	0.23440	N	0.048156	T	0.37972	0.1023	L	0.54323	1.7	0.19300	N	0.999975	D	0.65815	0.995	P	0.55785	0.784	T	0.47005	-0.9150	10	0.87932	D	0	.	14.1118	0.65126	0.4507:0.0:0.0:0.5493	.	40	Q63HN8	RN213_HUMAN	C	1967;2016;40	ENSP00000338218:Y40C	ENSP00000338218:Y40C	Y	+	2	0	RNF213	75928662	0.379000	0.25123	0.021000	0.16686	0.098000	0.18820	0.636000	0.24644	-0.554000	0.06150	0.528000	0.53228	TAC		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	60	0	0	0	1	0	4	60				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		8	81	0	0	0	1	0	8	81				
ANKRD55	79722	broad.mit.edu	37	5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T	rs201977310		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	95										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(283-285)cGc>cAc		ankyrin repeat domain 55							161.0	136.0	144.0					5																	55472007		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55472007C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.284G>A	5.37:g.55472007C>T	ENSP00000342295:p.Arg95His					ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	p.R95H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			4	435	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	94					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.284G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426908	0.96131	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66460	-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.47190	1.495	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.76607	-0.2897	10	0.41790	T	0.15	.	18.5715	0.91137	0.0:1.0:0.0:0.0	.	95	B3KVT8	.	H	95;95;95;66;95	ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H	ENSP00000342295:R95H	R	-	2	0	ANKRD55	55507764	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.485000	0.73625	2.462000	0.83206	0.563000	0.77884	CGC		0.542	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		5	184	0	0	0	1	0	5	184				
VN1R1	57191	broad.mit.edu	37	19	57966837	57966837	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966837T>C	ENST00000321039.3	-	1	1017	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	340					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTCCTTGTCCTGCAGGCAAAA	0.428																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(1018-1020)Agg>Ggg		vomeronasal 1 receptor 1							77.0	79.0	79.0					19																	57966837		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57966837T>C	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.1018A>G	19.37:g.57966837T>C	ENSP00000322339:p.Arg340Gly					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	p.R340G	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	1017	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	340					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.1018A>G	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	T	2.643	-0.283726	0.05642	.	.	ENSG00000178201	ENST00000321039	T	0.37235	1.21	3.54	-7.08	0.01558	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29761	-1.0001	9	0.22706	T	0.39	.	9.0117	0.36146	0.1652:0.1063:0.0:0.7286	.	340	Q9GZP7	VN1R1_HUMAN	G	340	ENSP00000322339:R340G	ENSP00000322339:R340G	R	-	1	2	VN1R1	62658649	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-2.436000	0.00553	-1.285000	0.01374	AGG		0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		7	96	0	0	0	1	0	7	96				
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:155254735C>G	ENST00000461007.1	+	0	3651				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587																																						ENST00000285718.7																			1	Substitution - Missense(1)	p.L425V(1)	kidney(1)																																																0							g.chrX:155254735C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254735C>G						WASH6P_ENST00000461007.1_RNA								0	1180	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37			.	.	.	.	.	.	.	.	.	.	c	15.33	2.802731	0.50315	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.186044	0.48286	D	0.000191	T	0.39200	0.1069	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29822	-0.9999	6	0.72032	D	0.01	-24.1796	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	V	425;394	.	ENSP00000285718:L394V	L	+	1	0	WASH6P	154907929	1.000000	0.71417	0.841000	0.33234	0.284000	0.27059	4.956000	0.63645	0.418000	0.25898	0.171000	0.16805	CTC		0.587	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	12	0	0	0	1	0	4	12				
TAS2R38	5726	broad.mit.edu	37	7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	rs139085046	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502																																						ENST00000547270.1																			1	Substitution - Missense(1)	p.R274H(1)	kidney(1)	NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(820-822)cGc>cAc		taste receptor, type 2, member 38		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		821	0.7	0.4	7	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TAS2R38	NM_176817.4	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	274/334	141672669	5,13001	2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672669C>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.821G>A	7.37:g.141672669C>T	ENSP00000448219:p.Arg274His						p.R274H	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	904	-	Melanoma(164;0.0171)		274					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.821G>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137168	0.01742	2.27E-4	4.65E-4	ENSG00000257138	ENST00000547270	T	0.00745	5.75	4.35	0.706	0.18133	.	0.826911	0.10796	N	0.633258	T	0.00328	0.0010	N	0.00690	-1.25	0.09310	N	0.99999	B	0.06786	0.001	B	0.04013	0.001	T	0.41070	-0.9529	10	0.20046	T	0.44	.	6.29	0.21054	0.0:0.3047:0.0:0.6953	.	274	P59533	T2R38_HUMAN	H	274	ENSP00000448219:R274H	ENSP00000331291:R274H	R	-	2	0	TAS2R38	141319138	0.048000	0.20356	0.396000	0.26296	0.035000	0.12851	0.491000	0.22419	0.122000	0.18314	-1.004000	0.02495	CGC		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		7	98	0	0	0	1	0	7	98				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	43	0	0	0	1	0	3	43				
RAD17	5884	broad.mit.edu	37	5	68689274	68689274	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:68689274G>T	ENST00000509734.1	+	14	2080	c.1402G>T	c.(1402-1404)Gtg>Ttg	p.V468L	RAD17_ENST00000380774.3_Missense_Mutation_p.V468L|RAD17_ENST00000305138.4_Missense_Mutation_p.V457L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.V457L|RAD17_ENST00000345306.6_Missense_Mutation_p.V457L|RAD17_ENST00000521422.1_Missense_Mutation_p.V292L|RAD17_ENST00000358030.2_Missense_Mutation_p.V292L|RAD17_ENST00000361732.2_Missense_Mutation_p.V457L|RAD17_ENST00000282891.6_Missense_Mutation_p.V371L|RAD17_ENST00000354312.3_Missense_Mutation_p.V457L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	468	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGATGATATTGTGAGAGCCAG	0.328								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1402-1404)Gtg>Ttg	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							84.0	85.0	85.0					5																	68689274		2203	4296	6499	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68689274G>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1402G>T	5.37:g.68689274G>T	ENSP00000426191:p.Val468Leu					RAD17_ENST00000305138.4_Missense_Mutation_p.V457L|RAD17_ENST00000282891.6_Missense_Mutation_p.V371L|RAD17_ENST00000358030.2_Missense_Mutation_p.V292L|RAD17_ENST00000345306.6_Missense_Mutation_p.V457L|RAD17_ENST00000380774.3_Missense_Mutation_p.V468L|RAD17_ENST00000354312.3_Missense_Mutation_p.V457L|RAD17_ENST00000521422.1_Missense_Mutation_p.V292L|RAD17_ENST00000361732.2_Missense_Mutation_p.V457L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.V457L	p.V468L			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	14	2080	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	468			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1402G>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768640	0.49680	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.32272	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.46	5.02	3.22	0.36961	.	0.409735	0.26231	N	0.025567	T	0.32315	0.0825	L	0.42245	1.32	0.43430	D	0.995593	P;B;P	0.45044	0.849;0.447;0.818	P;B;B	0.49799	0.622;0.108;0.407	T	0.02617	-1.1133	10	0.27785	T	0.31	-20.8571	9.993	0.41883	0.1694:0.0:0.8306:0.0	.	468;371;457	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	L	457;468;457;292;457;457;457;371;292;468;76	ENSP00000355226:V457L;ENSP00000426191:V468L;ENSP00000346938:V457L;ENSP00000427743:V292L;ENSP00000346271:V457L;ENSP00000311227:V457L;ENSP00000303134:V457L;ENSP00000282891:V371L;ENSP00000350725:V292L;ENSP00000370151:V468L;ENSP00000425005:V76L	ENSP00000282891:V371L	V	+	1	0	RAD17	68725030	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.198000	0.65147	1.108000	0.41662	0.460000	0.39030	GTG		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		5	54	1	0	3.59834e-05	1	3.93152e-05	5	54				
ZNF99	7652	broad.mit.edu	37	19	22941275	22941275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:22941275T>C	ENST00000596209.1	-	4	1526	c.1436A>G	c.(1435-1437)aAa>aGa	p.K479R	ZNF99_ENST00000397104.3_Missense_Mutation_p.K388R	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTCTCCAGT	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1162-1164)aAa>aGa		zinc finger protein 99							51.0	53.0	52.0					19																	22941275		2002	4207	6209	SO:0001583	missense	7652							g.chr19:22941275T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1436A>G	19.37:g.22941275T>C	ENSP00000472969:p.Lys479Arg					ZNF99_ENST00000596209.1_Missense_Mutation_p.K479R	p.K388R							5	1162	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1163A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	15.87	2.960579	0.53400	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	-1.66	0.08265	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	N	0.17379	0.485	0.19300	N	0.999973	P	0.44627	0.839	P	0.59948	0.866	T	0.28427	-1.0044	9	0.54805	T	0.06	.	6.8579	0.24050	0.0:0.0:0.3525:0.6475	.	388	A8MXY4	ZNF99_HUMAN	R	388	ENSP00000380293:K388R	ENSP00000380293:K388R	K	-	2	0	ZNF99	22733115	0.000000	0.05858	0.187000	0.23214	0.567000	0.35839	-0.262000	0.08682	-0.299000	0.08909	0.325000	0.21440	AAA		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	35	0	0	0	1	0	5	35				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	104	0	0	0	1	0	4	104				
LRRK2	120892	broad.mit.edu	37	12	40689228	40689228	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:40689228G>A	ENST00000298910.7	+	23	2936		c.e23-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGACAAAAGGGTCATCAAA	0.343																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.e23-1		leucine-rich repeat kinase 2							47.0	50.0	49.0					12																	40689228		2203	4300	6503	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689228G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2879-1G>A	12.37:g.40689228G>A						LRRK2_ENST00000343742.2_Splice_Site		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			23	2936	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)						A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37		CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209496	0.58343	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	38975495	1.000000	0.71417	0.983000	0.44433	0.772000	0.43724	3.136000	0.50554	2.695000	0.91970	0.591000	0.81541	.		0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Intron	11	43	0	0	0	1	0	11	43				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	35	0	0	0	1	0	5	35				
CKAP5	9793	broad.mit.edu	37	11	46798996	46798996	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:46798996T>C	ENST00000529230.1	-	23	2901	c.2855A>G	c.(2854-2856)gAc>gGc	p.D952G	CKAP5_ENST00000312055.5_Missense_Mutation_p.D952G|CKAP5_ENST00000354558.3_Missense_Mutation_p.D952G|CKAP5_ENST00000415402.1_Missense_Mutation_p.D952G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	952					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACCTTGCTGTCTCCAAGGAC	0.403																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2854-2856)gAc>gGc		cytoskeleton associated protein 5							128.0	117.0	121.0					11																	46798996		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46798996T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2855A>G	11.37:g.46798996T>C	ENSP00000432768:p.Asp952Gly					CKAP5_ENST00000415402.1_Missense_Mutation_p.D952G|CKAP5_ENST00000312055.5_Missense_Mutation_p.D952G|CKAP5_ENST00000354558.3_Missense_Mutation_p.D952G	p.D952G			Q14008	CKAP5_HUMAN			23	2901	-			952					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2855A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.729324	0.89390	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.093310	0.64402	D	0.000001	D	0.83529	0.5274	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.993;0.996	D	0.86358	0.1715	10	0.72032	D	0.01	-10.1186	15.6788	0.77352	0.0:0.0:0.0:1.0	.	952;952;952	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	G	952	ENSP00000432768:D952G;ENSP00000395302:D952G;ENSP00000310227:D952G;ENSP00000346566:D952G	ENSP00000310227:D952G	D	-	2	0	CKAP5	46755572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.964000	0.87933	2.110000	0.64415	0.459000	0.35465	GAC		0.403	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		3	26	0	0	0	1	0	3	26				
OR4A15	81328	broad.mit.edu	37	11	55135606	55135606	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:55135606C>G	ENST00000314706.3	+	1	247	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGCCAGTCCCTGGGTTCCCC	0.423																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(247-249)Ctg>Gtg		olfactory receptor, family 4, subfamily A, member 15							102.0	97.0	99.0					11																	55135606		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135606C>G	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.247C>G	11.37:g.55135606C>G	ENSP00000325065:p.Leu83Val						p.L83V	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	247	+			83					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.247C>G	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.613883	0.66672	.	.	ENSG00000181958	ENST00000314706	T	0.14022	2.54	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39687	N	0.001282	T	0.50034	0.1592	H	0.98594	4.275	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52260	-0.8599	10	0.87932	D	0	.	8.9563	0.35820	0.0:0.8823:0.0:0.1177	.	83	Q8NGL6	O4A15_HUMAN	V	83	ENSP00000325065:L83V	ENSP00000325065:L83V	L	+	1	2	OR4A15	54892182	0.953000	0.32496	0.003000	0.11579	0.791000	0.44710	2.324000	0.43831	0.632000	0.30432	0.492000	0.49549	CTG		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		28	142	0	0	0	1	0	28	142				
SLC4A1	6521	broad.mit.edu	37	17	42335164	42335164	+	Missense_Mutation	SNP	G	G	A	rs373768879		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:42335164G>A	ENST00000262418.6	-	12	1449	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	AC003043.1_ENST00000597382.1_5'Flank|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	432	Membrane (anion exchange).		R -> W (in ELO antigen).		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATCTGGTTCCGGGTCTTTTCT	0.587																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40	GRCh37	CM983769	SLC4A1	M		c.(1294-1296)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 1		G	TRP/ARG	0,4406		0,0,2203	76.0	70.0	72.0		1294	-11.1	0.0	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC4A1	NM_000342.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	432/912	42335164	1,13005	2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335164G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1294C>T	17.37:g.42335164G>A	ENSP00000262418:p.Arg432Trp						p.R432W	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	12	1449	-		Breast(137;0.014)|Prostate(33;0.0181)	432		R -> W (in ELO antigen).	Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1294C>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	9.617	1.132909	0.21041	0.0	1.16E-4	ENSG00000004939	ENST00000262418	T	0.79554	-1.28	5.57	-11.1	0.00147	Bicarbonate transporter, C-terminal (1);	1.964930	0.02322	N	0.073075	T	0.78616	0.4311	L	0.48642	1.525	0.09310	N	1	D;P	0.57571	0.98;0.903	P;P	0.56088	0.571;0.791	T	0.80233	-0.1467	10	0.87932	D	0	.	5.1981	0.15249	0.1499:0.4325:0.2322:0.1855	.	432;432	E2RVJ0;P02730	.;B3AT_HUMAN	W	432	ENSP00000262418:R432W	ENSP00000262418:R432W	R	-	1	2	SLC4A1	39690690	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-2.027000	0.01433	-3.368000	0.00177	-2.455000	0.00206	CGG		0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		8	83	0	0	0	1	0	8	83				
SIRT2	22933	broad.mit.edu	37	19	39379731	39379731	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:39379731G>A	ENST00000249396.7	-	8	798	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SIRT2_ENST00000358931.5_Missense_Mutation_p.T166M|SIRT2_ENST00000392081.2_Missense_Mutation_p.T129M	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	166	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCCTACCTGCGTGTAGCAGCG	0.622																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(496-498)aCg>aTg		sirtuin 2							89.0	69.0	76.0					19																	39379731		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39379731G>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.497C>T	19.37:g.39379731G>A	ENSP00000249396:p.Thr166Met					SIRT2_ENST00000392081.2_Missense_Mutation_p.T129M|SIRT2_ENST00000358931.5_Missense_Mutation_p.T166M	p.T166M	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		8	798	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		166			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.497C>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480251	0.84747	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.01	5.01	0.66863	.	0.125331	0.53938	D	0.000042	D	0.84437	0.5472	H	0.99464	4.58	0.49582	D	0.999803	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;0.997;1.0;0.99	D	0.90863	0.4740	10	0.87932	D	0	-1.6343	15.4087	0.74900	0.0:0.0:1.0:0.0	.	166;129;166;146	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	M	166;129;166;151;129;129;129	ENSP00000249396:T166M;ENSP00000375931:T129M;ENSP00000351809:T166M;ENSP00000404309:T129M;ENSP00000385146:T129M;ENSP00000401203:T129M	ENSP00000249396:T166M	T	-	2	0	SIRT2	44071571	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.411000	0.90229	2.630000	0.89119	0.555000	0.69702	ACG		0.622	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			6	108	0	0	0	1	0	6	108				
FZD10	11211	broad.mit.edu	37	12	130648265	130648265	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:130648265G>A	ENST00000229030.4	+	1	1262	c.778G>A	c.(778-780)Gag>Aag	p.E260K	FZD10_ENST00000539839.1_Missense_Mutation_p.R227Q|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	260					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCTACCCCGAGCGCCCCAT	0.662																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(679-681)cGa>cAa		frizzled family receptor 10							111.0	105.0	107.0					12																	130648265		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648265G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.778G>A	12.37:g.130648265G>A	ENSP00000229030:p.Glu260Lys					FZD10_ENST00000229030.4_Missense_Mutation_p.E260K	p.R227Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1262	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.680G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.84|14.84	2.656693|2.656693	0.47467|0.47467	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.84516|.	-1.86|.	4.96|4.96	4.07|4.07	0.47477|0.47477	GPCR, family 2-like (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.84316|0.84316	0.5445|0.5445	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88054|0.88054	0.2789|0.2789	10|6	0.87932|0.87932	D|D	0|0	.|.	13.4623|13.4623	0.61233|0.61233	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	260|.	Q9ULW2|.	FZD10_HUMAN|.	K|Q	260|227	ENSP00000229030:E260K|.	ENSP00000229030:E260K|ENSP00000438460:R227Q	E|R	+|+	1|2	0|0	FZD10|FZD10	129214218|129214218	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.951000|0.951000	0.60555|0.60555	7.814000|7.814000	0.86154|0.86154	1.071000|1.071000	0.40834|0.40834	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	174	0	0	0	1	0	12	174				
LARS2	23395	broad.mit.edu	37	3	45527196	45527196	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:45527196C>T	ENST00000415258.1	+	10	1172	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P344L|LARS2_ENST00000414984.1_Missense_Mutation_p.P301L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	344					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGCCTCACGCCTGTAATGGCT	0.453																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1030-1032)cCt>cTt		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						171.0	165.0	167.0					3																	45527196		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45527196C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1031C>T	3.37:g.45527196C>T	ENSP00000408576:p.Pro344Leu					LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P344L|LARS2_ENST00000414984.1_Missense_Mutation_p.P301L	p.P344L			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	10	1172	+			344						Missense_Mutation	SNP	ENST00000415258.1	37	c.1031C>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	9.203	1.029000	0.19512	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.21932	1.98;1.98;1.98	5.22	4.35	0.52113	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);	0.294232	0.34777	N	0.003691	T	0.19046	0.0457	L	0.41710	1.295	0.20074	N	0.999932	P;P	0.39920	0.695;0.695	B;B	0.40134	0.32;0.32	T	0.10917	-1.0609	10	0.87932	D	0	-12.3461	9.5131	0.39089	0.0:0.7822:0.1423:0.0755	.	301;344	E9PHM2;Q15031	.;SYLM_HUMAN	L	344;344;301	ENSP00000265537:P344L;ENSP00000408576:P344L;ENSP00000412893:P301L	ENSP00000265537:P344L	P	+	2	0	LARS2	45502200	0.436000	0.25586	0.033000	0.17914	0.190000	0.23558	3.037000	0.49775	1.182000	0.42928	0.655000	0.94253	CCT		0.453	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		12	198	0	0	0	1	0	12	198				
PPFIA1	8500	broad.mit.edu	37	11	70221156	70221156	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:70221156G>T	ENST00000253925.7	+	24	3487	c.3272G>T	c.(3271-3273)aGt>aTt	p.S1091I	AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1091I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1091	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCGACTTCAGTGCACTGGCA	0.483																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(3271-3273)aGt>aTt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							101.0	82.0	89.0					11																	70221156		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70221156G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3272G>T	11.37:g.70221156G>T	ENSP00000253925:p.Ser1091Ile					AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1091I|AP000487.5_ENST00000500185.2_RNA	p.S1091I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		24	3487	+			1091			SAM 3.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.3272G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892018	0.17613	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	D;D	0.85556	-2.0;-2.0	5.61	-7.64	0.01286	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.190184	0.43260	U	0.000587	T	0.78451	0.4285	M	0.65975	2.015	0.19775	N	0.999951	B;B;B	0.19935	0.001;0.001;0.04	B;B;B	0.12837	0.005;0.006;0.008	T	0.61554	-0.7039	10	0.72032	D	0.01	.	11.9454	0.52926	0.7033:0.1842:0.1125:0.0	.	588;1091;1091	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1091;1091;588	ENSP00000253925:S1091I;ENSP00000374198:S1091I	ENSP00000253925:S1091I	S	+	2	0	PPFIA1	69898804	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.054000	0.14205	-1.410000	0.02035	-0.300000	0.09419	AGT		0.483	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		4	26	1	0	0.00909568	1	0.00958295	4	26				
PKN2	5586	broad.mit.edu	37	1	89206770	89206770	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:89206770G>A	ENST00000370521.3	+	2	507	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PKN2_ENST00000370513.5_Missense_Mutation_p.D50N|PKN2_ENST00000316005.7_Missense_Mutation_p.D50N|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	50					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGATATCAAGGATCGAATTAA	0.368																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(148-150)Gat>Aat		protein kinase N2							79.0	74.0	76.0					1																	89206770		1836	4081	5917	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89206770G>A	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.148G>A	1.37:g.89206770G>A	ENSP00000359552:p.Asp50Asn					PKN2_ENST00000370513.5_Missense_Mutation_p.D50N|PKN2_ENST00000370505.3_Intron|PKN2_ENST00000316005.7_Missense_Mutation_p.D50N	p.D50N	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	2	507	+		Lung NSC(277;0.123)	50					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.148G>A	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008197	0.93346	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370513	T;T;T	0.17370	2.28;2.28;2.28	5.4	5.4	0.78164	.	0.000000	0.46145	U	0.000302	T	0.18841	0.0452	N	0.22421	0.69	0.80722	D	1	D;P;D;P	0.56746	0.96;0.917;0.977;0.939	P;P;P;P	0.59703	0.848;0.529;0.862;0.795	T	0.04090	-1.0978	10	0.87932	D	0	.	19.1711	0.93578	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	N	50	ENSP00000359552:D50N;ENSP00000317851:D50N;ENSP00000359544:D50N	ENSP00000317851:D50N	D	+	1	0	PKN2	88979358	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.476000	0.97823	2.518000	0.84900	0.462000	0.41574	GAT		0.368	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		9	60	0	0	0	1	0	9	60				
IGSF3	3321	broad.mit.edu	37	1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G	rs569343519	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													C|||	12	0.00239617	0.0023	0.0	5008	,	,		18566	0.003		0.0	False		,,,				2504	0.0061					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3055-3057)gaG>gaC		immunoglobulin superfamily, member 3							28.0	29.0	29.0					1																	117122291		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117122291C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3057G>C	1.37:g.117122291C>G	ENSP00000358498:p.Glu1019Asp					IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	p.E1019D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3822	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1019			Ig-like C2-type 8.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3057G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	0.860	-0.735766	0.03111	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02863	4.15;4.13;4.13	2.7	-5.4	0.02656	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.696000	0.03619	N	0.236120	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48768	-0.9006	10	0.15952	T	0.53	-1.3732	1.6073	0.02687	0.152:0.1895:0.1511:0.5074	.	1019;1039	O75054;A6NJZ6	IGSF3_HUMAN;.	D	1019;1039;1039	ENSP00000358498:E1019D;ENSP00000358495:E1039D;ENSP00000321184:E1039D	ENSP00000321184:E1039D	E	-	3	2	IGSF3	116923814	0.018000	0.18449	0.000000	0.03702	0.117000	0.20001	-1.573000	0.02134	-1.538000	0.01734	0.462000	0.41574	GAG		0.637	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	44	0	0	0	1	0	3	44				
VN1R1	57191	broad.mit.edu	37	19	57966864	57966864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966864G>A	ENST00000321039.3	-	1	990	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	331					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAGATATGAGTATCACTC	0.458																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(991-993)Cat>Tat		vomeronasal 1 receptor 1							86.0	89.0	88.0					19																	57966864		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57966864G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.991C>T	19.37:g.57966864G>A	ENSP00000322339:p.His331Tyr					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	p.H331Y	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	990	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	331					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.991C>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292955	0.23564	.	.	ENSG00000178201	ENST00000321039	T	0.14266	2.52	4.07	0.464	0.16706	.	.	.	.	.	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	B	0.32071	0.355	P	0.45474	0.482	T	0.45116	-0.9283	9	0.59425	D	0.04	.	11.2474	0.49004	0.0:0.0:0.3571:0.6429	.	331	Q9GZP7	VN1R1_HUMAN	Y	331	ENSP00000322339:H331Y	ENSP00000322339:H331Y	H	-	1	0	VN1R1	62658676	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.041000	0.13927	0.110000	0.17919	0.638000	0.83543	CAT		0.458	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		6	117	0	0	0	1	0	6	117				
PCDHB2	56133	broad.mit.edu	37	5	140475929	140475929	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:140475929C>A	ENST00000194155.4	+	1	1703	c.1555C>A	c.(1555-1557)Cag>Aag	p.Q519K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGCTCTCCAGTCGCTGGA	0.716																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1555-1557)Cag>Aag									91.0	98.0	96.0					5																	140475929		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475929C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1555C>A	5.37:g.140475929C>A	ENSP00000194155:p.Gln519Lys						p.Q519K	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1703	+			519			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1555C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	7.004	0.555403	0.13436	.	.	ENSG00000112852	ENST00000194155	T	0.01685	4.69	4.5	-6.45	0.01914	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01254	0.0041	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.46527	-0.9185	9	0.66056	D	0.02	.	22.5788	0.99973	0.1734:0.8266:0.0:0.0	.	519	Q9Y5E7	PCDB2_HUMAN	K	519	ENSP00000194155:Q519K	ENSP00000194155:Q519K	Q	+	1	0	PCDHB2	140456113	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	-1.436000	0.02421	-1.375000	0.02129	-1.574000	0.00870	CAG		0.716	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		5	285	1	0	0.184627	1	0.191105	5	285				
ABCC6	368	broad.mit.edu	37	16	16256866	16256866	+	Nonsense_Mutation	SNP	G	G	A	rs72653744	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:16256866G>A	ENST00000205557.7	-	24	3519	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1164	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q (in PXE; autosomal recessive; dbSNP:rs63750457). {ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1164*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCCACCAGTCGCGGGAAACTG	0.547																																						ENST00000205557.7																			1	Substitution - Nonsense(1)	p.R1164*(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM001603	ABCC6	M	rs72653744	c.(3490-3492)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 6		G	stop/ARG	0,4394		0,0,2197	133.0	141.0	138.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3490	2.0	1.0	16	dbSNP_130	138	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ABCC6	NM_001171.5		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1164/1504	16256866	1,12993	2197	4300	6497	SO:0001587	stop_gained	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256866G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3490C>T	16.37:g.16256866G>A	ENSP00000205557:p.Arg1164*						p.R1164*	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	24	3519	-			1164			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	ENST00000205557.7	37	c.3490C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	41	8.961498	0.99018	0.0	1.16E-4	ENSG00000091262	ENST00000205557	.	.	.	5.42	2.01	0.26516	.	0.469690	0.16852	U	0.196891	.	.	.	.	.	.	0.48696	D	0.999693	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.2199	0.31534	0.0:0.1644:0.2838:0.5518	.	.	.	.	X	1164	.	ENSP00000205557:R1164X	R	-	1	2	ABCC6	16164367	0.112000	0.22096	0.970000	0.41538	0.860000	0.49131	0.765000	0.26546	0.592000	0.29728	0.655000	0.94253	CGA		0.547	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			33	239	0	0	0	1	0	33	239				
RPL11	6135	broad.mit.edu	37	1	24019112	24019112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:24019112delA	ENST00000374550.3	+	2	65	c.20delA	c.(19-21)gaafs	p.E7fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GATCAAGGTGAAAAGGAGAAC	0.502																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(19-21)gafs		ribosomal protein L11							88.0	89.0	89.0					1																	24019112		2203	4300	6503	SO:0001589	frameshift_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019112delA	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.20delA	1.37:g.24019112delA	ENSP00000363676:p.Glu7fs					RPL11_ENST00000482370.1_3'UTR	p.E7fs	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	65	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	7					P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	c.20delA	CCDS238.1																																																																																				0.502	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		20	123						20	123	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37369279	37369281	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37369279_37369281delAAG	ENST00000361924.2	+	14	6276_6278	c.5902_5904delAAG	c.(5902-5904)aagdel	p.K1969del	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_In_Frame_Del_p.K1991del	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1969	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGAAATACTAAAGAAAGAATATG	0.355																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5902-5904)del		golgin A4																																				SO:0001651	inframe_deletion	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37369279_37369281delAAG	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5902_5904delAAG	3.37:g.37369279_37369281delAAG	ENSP00000354486:p.Lys1969del					GOLGA4_ENST00000356847.4_In_Frame_Del_p.K1991del|GOLGA4_ENST00000444882.1_Intron	p.K1969del	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	6276_6278	+			1969			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	In_Frame_Del	DEL	ENST00000361924.2	37	c.5902_5904delAAG	CCDS2666.1																																																																																				0.355	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		9	103						9	103	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53421430	53421430	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr13:53421430delC	ENST00000377942.3	-	1	1345	c.1142delG	c.(1141-1143)ggafs	p.G381fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G381fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	381					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCGTCCGCTCCCCCGAGTGC	0.766																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1141-1143)gafs		protocadherin 8							3.0	4.0	3.0					13																	53421430		1254	2688	3942	SO:0001589	frameshift_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421430delC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1142delG	13.37:g.53421430delC	ENSP00000367177:p.Gly381fs					PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G381fs	p.G381fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1345	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	381					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Frame_Shift_Del	DEL	ENST00000377942.3	37	c.1142delG	CCDS9438.1																																																																																				0.766	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	4						2	4	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75271144	75271144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:75271144delC	ENST00000162330.5	-	3	858	c.732delG	c.(730-732)gggfs	p.G244fs	BCAR1_ENST00000546196.1_Frame_Shift_Del_p.G215fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.G290fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.G242fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.G96fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.G262fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	244	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGTGGCCCCGGGGCCA	0.697																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(643-645)ggfs		breast cancer anti-estrogen resistance 1							18.0	20.0	19.0					16																	75271144		2168	4262	6430	SO:0001589	frameshift_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75271144delC	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.732delG	16.37:g.75271144delC	ENSP00000162330:p.Gly244fs					BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.G242fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.G96fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.G290fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.G244fs	p.G215fs			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	3	2297	-			244			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	c.645delG	CCDS10915.1																																																																																				0.697	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		2	4						2	4	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226652	88226657	+	lincRNA	DEL	TGATGA	TGATGA	-	rs201533987|rs145340383		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:88226652_88226657delTGATGA	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							atggtggtggtgatgatggtgatggt	0.553																																						ENST00000568587.1																			0																																																			0							g.chr16:88226652_88226657delTGATGA																													16.37:g.88226652_88226657delTGATGA														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.553	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
TBC1D3P5	440419	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GACGCTGTTCTTttttttttt	0.453																																						ENST00000586223.1																			0																																																			0							g.chr17:25754047delT			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25754047delT								NR_033892.1						0	1595	+									RNA	DEL	ENST00000586223.1	37																																																																																						0.453	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		2	4						2	4	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	161						7	161	---	---	---	---
