#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PIK3R3	8503	broad.mit.edu	37	1	46511672	46511672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:46511672C>T	ENST00000262741.5	-	9	1794	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	PIK3R3_ENST00000354242.4_Missense_Mutation_p.E310K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E415K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E369K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E310K|PIK3R3_ENST00000488808.1_5'UTR|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E369K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E274K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	369	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGCAAGTCCTCTGCTTGTACT	0.398																																						uc001cpb.3		NA																	0					0						c.(1105-1107)GAG>AAG		phosphoinositide-3-kinase, regulatory subunit 3							162.0	152.0	156.0					1																	46511672		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46511672C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1105G>A	1.37:g.46511672C>T	ENSP00000262741:p.Glu369Lys					PIK3R3_uc009vyb.2_Missense_Mutation_p.E310K|PIK3R3_uc009vyc.2_Missense_Mutation_p.E386K|PIK3R3_uc001cpc.3_Missense_Mutation_p.E369K|PIK3R3_uc010olw.1_Missense_Mutation_p.E415K|PIK3R3_uc010olv.1_Missense_Mutation_p.E159K	p.E369K	NM_003629	NP_003620	Q92569	P55G_HUMAN			9	1861	-	Acute lymphoblastic leukemia(166;0.155)		369			SH2 2.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.1105G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901534	0.97087	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	6.08	6.08	0.98989	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.972	D;D;D;P	0.80764	0.984;0.994;0.986;0.892	D	0.97128	0.9816	10	0.87932	D	0	-9.2053	20.6634	0.99662	0.0:1.0:0.0:0.0	.	415;402;310;369	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	369;369;369;310;274;415;310	ENSP00000361075:E369K;ENSP00000262741:E369K;ENSP00000412546:E369K;ENSP00000346188:E310K;ENSP00000342484:E274K;ENSP00000439913:E415K;ENSP00000391431:E310K	ENSP00000262741:E369K	E	-	1	0	PIK3R3	46284259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAG		0.398	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		20	80	0	0	0	0	20	80				
ASPM	259266	broad.mit.edu	37	1	197091638	197091638	+	Missense_Mutation	SNP	C	C	A	rs199422156		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:197091638C>A	ENST00000367409.4	-	14	3734	c.3478G>T	c.(3478-3480)Gct>Tct	p.A1160S	ASPM_ENST00000294732.7_Missense_Mutation_p.A1160S|ASPM_ENST00000367408.1_Missense_Mutation_p.A410S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1160	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGACATATAGCGTCAAATGGC	0.413																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(3478-3480)GCT>TCT		asp (abnormal spindle)-like, microcephaly							105.0	91.0	96.0					1																	197091638		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091638C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3478G>T	1.37:g.197091638C>A	ENSP00000356379:p.Ala1160Ser					ASPM_uc001gtv.2_Missense_Mutation_p.A1160S|ASPM_uc001gtw.3_Intron	p.A1160S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			14	3735	-			1160			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3478G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588866	0.46110	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58506	0.33;0.33;0.33	5.96	4.1	0.47936	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (4);	0.148183	0.46442	D	0.000292	T	0.48352	0.1495	N	0.13168	0.305	0.09310	N	1	P;D	0.53885	0.663;0.963	B;P	0.55667	0.161;0.781	T	0.32534	-0.9903	10	0.22109	T	0.4	.	8.2435	0.31673	0.1285:0.7373:0.0:0.1342	.	1160;1160	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	S	1160;1160;410	ENSP00000356379:A1160S;ENSP00000294732:A1160S;ENSP00000356378:A410S	ENSP00000294732:A1160S	A	-	1	0	ASPM	195358261	0.961000	0.32948	0.030000	0.17652	0.554000	0.35429	2.249000	0.43169	0.862000	0.35528	-0.237000	0.12165	GCT		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		5	12	1	0	1.24e-05	2.22e-05	5	12				
PGBD2	267002	broad.mit.edu	37	1	249212056	249212056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:249212056G>T	ENST00000329291.5	+	3	1420	c.1273G>T	c.(1273-1275)Gct>Tct	p.A425S	PGBD2_ENST00000539153.1_Missense_Mutation_p.A422S|PGBD2_ENST00000355360.4_Missense_Mutation_p.A174S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	425										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGCTCCAATGCTGTGGGCAT	0.517																																						uc001ifh.2		NA																	0				ovary(1)	1						c.(1273-1275)GCT>TCT		hypothetical protein LOC267002 isoform a							90.0	77.0	81.0					1																	249212056		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212056G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1273G>T	1.37:g.249212056G>T	ENSP00000331643:p.Ala425Ser					PGBD2_uc001ifg.2_Missense_Mutation_p.A174S|PGBD2_uc009xhd.2_Missense_Mutation_p.A422S	p.A425S	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1420	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	425					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1273G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466777	0.26335	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.17854	2.25;2.25;2.25	3.78	3.78	0.43462	.	0.228496	0.28659	N	0.014569	T	0.30103	0.0754	L	0.45581	1.43	0.22511	N	0.999039	D;D	0.89917	0.998;1.0	D;D	0.87578	0.969;0.998	T	0.05750	-1.0866	10	0.22109	T	0.4	-10.7939	11.3409	0.49533	0.0:0.0:1.0:0.0	.	422;425	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	174;425;422	ENSP00000355424:A174S;ENSP00000331643:A425S;ENSP00000439950:A422S	ENSP00000331643:A425S	A	+	1	0	PGBD2	247178679	0.996000	0.38824	0.620000	0.29132	0.441000	0.31987	1.922000	0.40045	2.108000	0.64289	0.467000	0.42956	GCT		0.517	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	38	1	0	5.18e-06	9.47e-06	7	38				
TALDO1	6888	broad.mit.edu	37	11	755976	755976	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:755976G>A	ENST00000319006.3	+	2	348	c.195G>A	c.(193-195)gcG>gcA	p.A65A	TALDO1_ENST00000528097.1_Silent_p.A65A			P37837	TALDO_HUMAN	transaldolase 1	65					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGAGGAGGCGATTGCCTATG	0.632																																						uc001lqz.2		NA																	0					0						c.(193-195)GCG>GCA		transaldolase 1							58.0	52.0	54.0					11																	755976		2203	4300	6503	SO:0001819	synonymous_variant	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:755976G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.195G>A	11.37:g.755976G>A						TALDO1_uc010qwl.1_Silent_p.A65A|TALDO1_uc001lra.2_Silent_p.A65A	p.A65A	NM_006755	NP_006746	P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	2	245	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	65					B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	c.195G>A	CCDS7712.1																																																																																				0.632	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		4	27	0	0	0	0	4	27				
ATM	472	broad.mit.edu	37	11	108206667	108206667	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:108206667A>C	ENST00000452508.2	+	57	8436	c.8247A>C	c.(8245-8247)aaA>aaC	p.K2749N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.K2749N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2749	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGAAGAGGAAATTAACTATCT	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8245-8247)AAA>AAC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							121.0	113.0	116.0					11																	108206667		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108206667A>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8247A>C	11.37:g.108206667A>C	ENSP00000388058:p.Lys2749Asn	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.K2749N|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.K1401N	p.K2749N	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	56	8632	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2749			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8247A>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534702	0.64972	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.89343	-2.5;-2.5	5.56	-1.01	0.10169	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.87865	0.6285	L	0.31476	0.935	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.81986	-0.0681	10	0.22109	T	0.4	.	10.6905	0.45869	0.598:0.0:0.402:0.0	.	2749	Q13315	ATM_HUMAN	N	2749	ENSP00000278616:K2749N;ENSP00000388058:K2749N	ENSP00000278616:K2749N	K	+	3	2	ATM	107711877	0.510000	0.26171	0.042000	0.18584	0.936000	0.57629	0.943000	0.29030	-0.439000	0.07222	0.533000	0.62120	AAA		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		15	13	0	0	0	0	15	13				
C3AR1	719	broad.mit.edu	37	12	8212707	8212707	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:8212707G>A	ENST00000307637.4	-	2	278	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	25					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGACCATGGAGAGAATTACTG	0.488																																						uc001qtv.1		NA																	0				ovary(1)	1						c.(73-75)CTC>CTT		complement component 3a receptor 1							82.0	85.0	84.0					12																	8212707		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212707G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.75C>T	12.37:g.8212707G>A							p.L25L	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	167	-			25			Helical; Name=1; (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.75C>T	CCDS8588.1																																																																																				0.488	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			30	68	0	0	0	0	30	68				
CUX2	23316	broad.mit.edu	37	12	111758147	111758147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:111758147G>T	ENST00000261726.6	+	17	2488	c.2334G>T	c.(2332-2334)gaG>gaT	p.E778D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	778					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCAAGTCCGAGATCGGCGACG	0.721																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(2332-2334)GAG>GAT		cut-like 2							23.0	29.0	27.0					12																	111758147		1893	3935	5828	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758147G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2334G>T	12.37:g.111758147G>T	ENSP00000261726:p.Glu778Asp						p.E778D	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2487	+			778					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2334G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864004	0.71949	.	.	ENSG00000111249	ENST00000261726	T	0.56776	0.44	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.78637	2.42	0.47659	D	0.999482	D	0.76494	0.999	D	0.76071	0.987	T	0.71724	-0.4506	10	0.46703	T	0.11	-23.2095	11.375	0.49722	0.0892:0.0:0.9108:0.0	.	778	O14529	CUX2_HUMAN	D	778	ENSP00000261726:E778D	ENSP00000261726:E778D	E	+	3	2	CUX2	110242530	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	3.399000	0.52586	1.933000	0.56026	0.306000	0.20318	GAG		0.721	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		18	39	1	0	5.39e-06	9.79e-06	18	39				
GTF3A	2971	broad.mit.edu	37	13	28004707	28004707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr13:28004707A>T	ENST00000381140.4	+	4	631	c.437A>T	c.(436-438)cAt>cTt	p.H146L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	146					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TTTAAGAAACATCAGCAGCTG	0.383																																						uc001ure.2		NA																	0					0						c.(436-438)CAT>CTT		transcription factor IIIA							78.0	65.0	69.0					13																	28004707		1568	3582	5150	SO:0001583	missense	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28004707A>T		CCDS45019.1	13q12.3-q13.1	2013-01-08			ENSG00000122034	ENSG00000122034		"""General transcription factors"", ""Zinc fingers, C2H2-type"""	4662	protein-coding gene	gene with protein product		600860				7789179	Standard	NM_002097		Approved	TFIIIA, AP2	uc001ure.2	Q92664	OTTHUMG00000016632	ENST00000381140.4:c.437A>T	13.37:g.28004707A>T	ENSP00000370532:p.His146Leu					GTF3A_uc001urf.2_5'UTR|GTF3A_uc001urg.2_RNA	p.H146L	NM_002097	NP_002088	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	4	631	+		Lung SC(185;0.0156)	146			C2H2-type 4; atypical.		B7ZBK5|Q12963|Q13097	Missense_Mutation	SNP	ENST00000381140.4	37	c.437A>T	CCDS45019.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421840	0.62622	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	T;T	0.30714	2.08;1.52	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.260938	0.43416	N	0.000565	T	0.21022	0.0506	N	0.12961	0.28	0.34176	D	0.670351	B	0.14012	0.009	B	0.10450	0.005	T	0.15492	-1.0435	9	0.28530	T	0.3	-18.1574	16.1811	0.81903	1.0:0.0:0.0:0.0	.	146	Q92664	TF3A_HUMAN	L	146;16	ENSP00000370532:H146L;ENSP00000393050:H16L	ENSP00000370532:H146L	H	+	2	0	GTF3A	26902707	1.000000	0.71417	0.976000	0.42696	0.890000	0.51754	8.040000	0.89188	2.218000	0.71995	0.528000	0.53228	CAT		0.383	GTF3A-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044281.2	NM_002097		9	9	0	0	0	0	9	9				
MYCBP2	23077	broad.mit.edu	37	13	77662989	77662989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr13:77662989G>A	ENST00000544440.2	-	61	10606	c.10589C>T	c.(10588-10590)gCt>gTt	p.A3530V	MYCBP2_ENST00000407578.2_Missense_Mutation_p.A3568V|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A3530V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTCGACAAGCAGATTTCCT	0.353																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10588-10590)GCT>GTT		MYC binding protein 2							86.0	85.0	85.0					13																	77662989		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77662989G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10589C>T	13.37:g.77662989G>A	ENSP00000444596:p.Ala3530Val					MYCBP2_uc010aev.2_Missense_Mutation_p.A2934V|MYCBP2_uc001vke.2_Missense_Mutation_p.A150V	p.A3530V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	62	10680	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3530						Missense_Mutation	SNP	ENST00000544440.2	37	c.10589C>T		.	.	.	.	.	.	.	.	.	.	G	30	5.057540	0.93846	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29655	1.56;1.56;1.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	N	0.25890	0.77	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.37033	-0.9723	10	0.54805	T	0.06	.	19.6914	0.96002	0.0:0.0:1.0:0.0	.	3530	O75592	MYCB2_HUMAN	V	3530;3568;3530	ENSP00000349892:A3530V;ENSP00000384288:A3568V;ENSP00000444596:A3530V	ENSP00000349892:A3530V	A	-	2	0	MYCBP2	76560990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.857000	0.99534	2.644000	0.89710	0.563000	0.77884	GCT		0.353	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		17	20	0	0	0	0	17	20				
AJUBA	84962	broad.mit.edu	37	14	23447604	23447604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:23447604G>A	ENST00000262713.2	-	2	1432	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q353*|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'Flank	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	353	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TCCAGGGCCTGGCAGGCATTG	0.542																																						uc001whz.2		NA																	0					0						c.(1057-1059)CAG>TAG		ajuba isoform 1							195.0	166.0	176.0					14																	23447604		2203	4300	6503	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447604G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1057C>T	14.37:g.23447604G>A	ENSP00000262713:p.Gln353*					JUB_uc001why.2_5'Flank	p.Q353*	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	2	1433	-	all_cancers(95;4.6e-05)		353			LIM zinc-binding 1.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.1057C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	36	5.906911	0.97093	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	15.3663	0.74526	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000262713:Q353X	Q	-	1	0	JUB	22517444	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.928000	0.75846	2.221000	0.72209	0.563000	0.77884	CAG		0.542	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			124	49	0	0	0	0	124	49				
CHMP4A	29082	broad.mit.edu	37	14	24679887	24679887	+	Silent	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:24679887A>G	ENST00000609024.1	-	4	495	c.447T>C	c.(445-447)ccT>ccC	p.P149P	CHMP4A_ENST00000530996.1_Silent_p.P44P|TM9SF1_ENST00000530611.1_Silent_p.P149P|TM9SF1_ENST00000556387.1_Silent_p.P149P|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Silent_p.P192P			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	149	Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CAAAGCCCATAGGCCGAGAAA	0.507																																						uc010tob.1		NA																	0				ovary(1)	1						c.(523-525)CCT>CCC		transmembrane 9 superfamily member 1 isoform a							229.0	181.0	197.0					14																	24679887		2203	4300	6503	SO:0001819	synonymous_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679887A>G	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.447T>C	14.37:g.24679887A>G						CHMP4A_uc001wni.2_Silent_p.P192P|CHMP4A_uc010toc.1_RNA|CHMP4A_uc001wnj.2_Silent_p.P192P	p.P175P	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	4	1159	-			Error:Variant_position_missing_in_O15321_after_alignment					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	37	c.525T>C																																																																																					0.507	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		3	152	0	0	0	0	3	152				
SOS2	6655	broad.mit.edu	37	14	50597456	50597456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:50597456T>C	ENST00000216373.5	-	20	3374	c.3100A>G	c.(3100-3102)Aaa>Gaa	p.K1034E	SOS2_ENST00000543680.1_Missense_Mutation_p.K1001E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1034					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCAGGAGATTTTAAGGAAAAA	0.383																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(3100-3102)AAA>GAA		son of sevenless homolog 2							77.0	71.0	73.0					14																	50597456		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50597456T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3100A>G	14.37:g.50597456T>C	ENSP00000216373:p.Lys1034Glu					SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.K1001E	p.K1034E	NM_006939	NP_008870	Q07890	SOS2_HUMAN			20	3198	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1034					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3100A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103849	0.76983	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.29917	1.55;1.55	5.62	5.62	0.85841	Ras guanine nucleotide exchange factor, domain (1);	0.136893	0.64402	D	0.000003	T	0.54902	0.1887	M	0.79693	2.465	0.80722	D	1	D;D	0.64830	0.994;0.974	P;P	0.59357	0.847;0.856	T	0.61705	-0.7008	10	0.87932	D	0	.	15.8121	0.78573	0.0:0.0:0.0:1.0	.	1001;1034	B7ZKT6;Q07890	.;SOS2_HUMAN	E	1034;1001	ENSP00000216373:K1034E;ENSP00000445328:K1001E	ENSP00000216373:K1034E	K	-	1	0	SOS2	49667206	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	7.351000	0.79395	2.146000	0.66826	0.397000	0.26171	AAA		0.383	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			6	56	0	0	0	0	6	56				
EML5	161436	broad.mit.edu	37	14	89091394	89091394	+	Silent	SNP	C	C	T	rs372615702		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:89091394C>T	ENST00000380664.5	-	34	4793	c.4794G>A	c.(4792-4794)gcG>gcA	p.A1598A	EML5_ENST00000554922.1_Silent_p.A1606A|EML5_ENST00000352093.5_Silent_p.A1560A|EML5_ENST00000553320.1_5'UTR			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1598						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTGAGCTCTCGCCACGATTC	0.502																																						uc001xxg.2		NA																	0				ovary(3)	3						c.(4816-4818)GCG>GCA		echinoderm microtubule associated protein like		C		1,4021		0,1,2010	78.0	78.0	78.0		4818	3.2	1.0	14		78	0,8376		0,0,4188	no	coding-synonymous	EML5	NM_183387.2		0,1,6198	TT,TC,CC		0.0,0.0249,0.0081		1606/1978	89091394	1,12397	2011	4188	6199	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89091394C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4794G>A	14.37:g.89091394C>T						EML5_uc001xxf.2_Silent_p.A393A|EML5_uc001xxh.1_Silent_p.A737A	p.A1606A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			36	5004	-			1598			WD 23.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.4818G>A	CCDS45148.1																																																																																				0.502	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			6	67	0	0	0	0	6	67				
KLC1	3831	broad.mit.edu	37	14	104167058	104167058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:104167058C>T	ENST00000348520.6	+	14	2036	c.1717C>T	c.(1717-1719)Cgc>Tgc	p.R573C	KLC1_ENST00000334553.6_Missense_Mutation_p.R639C|XRCC3_ENST00000553264.1_Intron|XRCC3_ENST00000555832.1_5'Flank|KLC1_ENST00000557450.1_Missense_Mutation_p.R564C|KLC1_ENST00000452929.2_Silent_p.T616T|KLC1_ENST00000555836.1_Missense_Mutation_p.R630C|XRCC3_ENST00000445556.1_Intron|XRCC3_ENST00000555055.1_Intron|KLC1_ENST00000554280.1_Silent_p.T607T|XRCC3_ENST00000554913.1_Intron|XRCC3_ENST00000352127.7_Intron|XRCC3_ENST00000554974.1_Intron	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	573					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AAGACGCCACCGCTAACGTGA	0.627																																						uc001yno.2		NA																	0					0						c.(1717-1719)CGC>TGC		kinesin light chain 1 isoform 2							44.0	50.0	48.0					14																	104167058		2046	4184	6230	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104167058C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1717C>T	14.37:g.104167058C>T	ENSP00000341154:p.Arg573Cys					KLC1_uc010tyf.1_Silent_p.T616T|KLC1_uc001yns.2_RNA|XRCC3_uc001yny.3_Intron|XRCC3_uc001ynx.3_Intron|XRCC3_uc001ynz.3_Intron|XRCC3_uc001yoa.3_Intron	p.R573C	NM_182923	NP_891553	Q07866	KLC1_HUMAN			14	2025	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	573					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.1717C>T	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688473	0.48097	.	.	ENSG00000126214	ENST00000348520;ENST00000555836;ENST00000334553;ENST00000557450	T;D;D;D	0.83914	-1.16;-1.56;-1.59;-1.78	3.91	0.868	0.19090	.	2.074210	0.02050	N	0.049997	T	0.69584	0.3127	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.59915	-0.7364	10	0.87932	D	0	.	6.8496	0.24008	0.0:0.6624:0.0:0.3376	.	573	Q07866	KLC1_HUMAN	C	573;630;639;564	ENSP00000341154:R573C;ENSP00000452481:R630C;ENSP00000334523:R639C;ENSP00000450648:R564C	ENSP00000334523:R639C	R	+	1	0	KLC1	103236811	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.058000	0.14301	0.136000	0.18733	-0.258000	0.10820	CGC		0.627	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		11	70	0	0	0	0	11	70				
HERC2	8924	broad.mit.edu	37	15	28467346	28467346	+	Missense_Mutation	SNP	T	T	C	rs200371467		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:28467346T>C	ENST00000261609.7	-	36	5588	c.5480A>G	c.(5479-5481)aAc>aGc	p.N1827S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCTCAACGTTGTCACAACT	0.458																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5479-5481)AAC>AGC		hect domain and RLD 2																																				SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28467346T>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5480A>G	15.37:g.28467346T>C	ENSP00000261609:p.Asn1827Ser						p.N1827S	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	36	5586	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1827						Missense_Mutation	SNP	ENST00000261609.7	37	c.5480A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	2.230	-0.376379	0.05000	.	.	ENSG00000128731	ENST00000261609	T	0.36878	1.23	4.38	0.803	0.18691	.	0.204164	0.49305	N	0.000147	T	0.13628	0.0330	N	0.08118	0	0.33077	D	0.536121	B	0.09022	0.002	B	0.04013	0.001	T	0.37865	-0.9687	10	0.06099	T	0.92	.	8.0094	0.30344	0.0:0.2452:0.0:0.7548	.	1827	O95714	HERC2_HUMAN	S	1827	ENSP00000261609:N1827S	ENSP00000261609:N1827S	N	-	2	0	HERC2	26140941	0.696000	0.27757	0.013000	0.15412	0.341000	0.28922	1.093000	0.30939	0.033000	0.15463	-0.911000	0.02809	AAC		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	29	0	0	0	0	9	29				
ACTC1	70	broad.mit.edu	37	15	35082732	35082732	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:35082732A>G	ENST00000290378.4	-	7	1670	c.1015T>C	c.(1015-1017)Tac>Cac	p.Y339H	RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	339					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGACAGAGTATTTACGCTCA	0.478																																						uc001ziu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1015-1017)TAC>CAC		cardiac muscle alpha actin 1 proprotein							85.0	88.0	87.0					15																	35082732		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35082732A>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.1015T>C	15.37:g.35082732A>G	ENSP00000290378:p.Tyr339His					uc001zit.1_Intron	p.Y339H	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1258	-		all_lung(180;2.3e-08)	339					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.1015T>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970778	0.53614	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97710	-4.5	4.77	4.77	0.60923	.	0.000000	0.49916	U	0.000139	D	0.96917	0.8993	M	0.76328	2.33	0.49213	D	0.999767	P	0.35433	0.501	B	0.37601	0.254	D	0.97631	1.0142	10	0.87932	D	0	.	14.7439	0.69477	1.0:0.0:0.0:0.0	.	339	P68032	ACTC_HUMAN	H	339;304	ENSP00000290378:Y339H	ENSP00000290378:Y339H	Y	-	1	0	ACTC1	32870024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.952000	0.93031	2.120000	0.65058	0.460000	0.39030	TAC		0.478	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		21	69	0	0	0	0	21	69				
PKD1	5310	broad.mit.edu	37	16	2160250	2160250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr16:2160250C>G	ENST00000262304.4	-	15	5126	c.4918G>C	c.(4918-4920)Ggt>Cgt	p.G1640R	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1640R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(4918-4920)GGT>CGT		polycystin 1 isoform 1 precursor							20.0	20.0	20.0					16																	2160250		2171	4272	6443	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160250C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4918G>C	16.37:g.2160250C>G	ENSP00000262304:p.Gly1640Arg					PKD1_uc002cot.1_Missense_Mutation_p.G1640R	p.G1640R	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	5127	-			1640			Extracellular (Potential).|PKD 12.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4918G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.708	0.911385	0.17833	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.61627	0.09;0.09	5.3	4.35	0.52113	Polycystin cation channel (1);PKD domain (1);	0.226336	0.45606	D	0.000350	T	0.64382	0.2593	L	0.44542	1.39	0.09310	N	1	D;D	0.71674	0.998;0.994	D;D	0.69824	0.966;0.954	T	0.54892	-0.8225	10	0.42905	T	0.14	.	8.5645	0.33531	0.1357:0.7246:0.0:0.1397	.	1640;1640	P98161-3;P98161	.;PKD1_HUMAN	R	1640	ENSP00000262304:G1640R;ENSP00000399501:G1640R	ENSP00000262304:G1640R	G	-	1	0	PKD1	2100251	0.001000	0.12720	0.018000	0.16275	0.014000	0.08584	0.784000	0.26816	0.642000	0.30620	-1.611000	0.00801	GGT		0.617	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			19	13	0	0	0	0	19	13				
HIRIP3	8479	broad.mit.edu	37	16	30002124	30002124	+	IGR	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr16:30002124A>G	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.Q822R	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GATGAGACCCAGGAGGCAGAG	0.612																																						uc002dvc.1		NA																	0				ovary(1)	1						c.(2464-2466)CAG>CGG		TAO kinase 2 isoform 1																																				SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002124A>G	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002124A>G						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	p.Q822R	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN			18	3248	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2465A>G	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581767	0.65992	.	.	ENSG00000149930	ENST00000279394	T	0.74737	-0.87	4.87	4.87	0.63330	.	.	.	.	.	D	0.85847	0.5792	M	0.86740	2.835	0.80722	D	1	D	0.61697	0.99	P	0.62435	0.902	D	0.87937	0.2714	8	.	.	.	.	13.5778	0.61885	1.0:0.0:0.0:0.0	.	822	Q9UL54-2	.	R	822	ENSP00000279394:Q822R	.	Q	+	2	0	TAOK2	29909625	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.139000	0.94554	2.044000	0.60594	0.460000	0.39030	CAG		0.612	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		18	34	0	0	0	0	18	34				
ACACA	31	broad.mit.edu	37	17	35620680	35620680	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:35620680G>A	ENST00000394406.2	-	11	1316	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	ACACA_ENST00000353139.5_Missense_Mutation_p.R413C|ACACA_ENST00000360679.3_Missense_Mutation_p.R318C|ACACA_ENST00000335166.5_Missense_Mutation_p.R298C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	376	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAGCAATCACGACCAAACAAA	0.433																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1126-1128)CGT>TGT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						249.0	221.0	230.0					17																	35620680		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35620680G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1126C>T	17.37:g.35620680G>A	ENSP00000377928:p.Arg376Cys					ACACA_uc002hnk.2_Missense_Mutation_p.R298C|ACACA_uc002hnl.2_Missense_Mutation_p.R318C|ACACA_uc002hnn.2_Missense_Mutation_p.R376C|ACACA_uc002hno.2_Missense_Mutation_p.R413C|ACACA_uc010cuz.2_Missense_Mutation_p.R376C	p.R376C	NM_198836	NP_942133	Q13085	ACACA_HUMAN			11	1317	-		Breast(25;0.00157)|Ovarian(249;0.15)	376			Biotin carboxylation.|ATP-grasp.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1126C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723792	0.89298	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.78	5.78	0.91487	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	H	0.99705	4.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98204	1.0469	10	0.87932	D	0	-10.3924	20.0079	0.97439	0.0:0.0:1.0:0.0	.	413;376;318	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	413;318;376;400;298	ENSP00000344789:R413C;ENSP00000353898:R318C;ENSP00000377928:R376C;ENSP00000335323:R298C	ENSP00000335323:R298C	R	-	1	0	ACACA	32694793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.392000	0.59659	2.722000	0.93159	0.655000	0.94253	CGT		0.433	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		19	180	0	0	0	0	19	180				
PSME3	10197	broad.mit.edu	37	17	40986550	40986550	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:40986550A>G	ENST00000590720.1	+	3	327	c.94A>G	c.(94-96)Aat>Gat	p.N32D	PSME3_ENST00000592169.1_Intron|PSME3_ENST00000545225.1_5'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.N43D|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000293362.3_Missense_Mutation_p.N32D|PSME3_ENST00000541124.1_3'UTR			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGGTGGCAAATTTTTTCCC	0.408																																						uc002ibr.2		NA																	0					0						c.(94-96)AAT>GAT		proteasome activator subunit 3 isoform 1							99.0	105.0	103.0					17																	40986550		2203	4300	6503	SO:0001583	missense	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40986550A>G	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.94A>G	17.37:g.40986550A>G	ENSP00000466794:p.Asn32Asp					PSME3_uc002ibp.2_5'UTR|PSME3_uc002ibq.2_Missense_Mutation_p.N32D|PSME3_uc002ibs.2_Missense_Mutation_p.N43D|PSME3_uc010whd.1_5'UTR	p.N32D	NM_005789	NP_005780	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	3	320	+		Breast(137;0.000143)	32					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.94A>G	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268478	0.59540	.	.	ENSG00000131467	ENST00000293362;ENST00000441946;ENST00000543428	T;T	0.45276	0.9;0.9	5.65	5.65	0.86999	Proteasome activator pa28, REG alpha subunit (2);	0.254710	0.44483	D	0.000449	T	0.36496	0.0969	L	0.42245	1.32	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.12682	-1.0538	10	0.19590	T	0.45	-7.3925	16.0399	0.80667	1.0:0.0:0.0:0.0	.	32;32;32	Q6FHK7;P61289;P61289-2	.;PSME3_HUMAN;.	D	32	ENSP00000293362:N32D;ENSP00000437924:N32D	ENSP00000293362:N32D	N	+	1	0	PSME3	38240076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.371000	0.80710	0.533000	0.62120	AAT		0.408	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		33	86	0	0	0	0	33	86				
RTTN	25914	broad.mit.edu	37	18	67801778	67801778	+	Splice_Site	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr18:67801778C>T	ENST00000255674.6	-	23	3172		c.e23-1		RTTN_ENST00000454359.1_Splice_Site|RTTN_ENST00000437017.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin						determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTAACAGACCTATTTCATAA	0.333																																						uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.e23-1		rotatin							58.0	54.0	55.0					18																	67801778		1836	4086	5922	SO:0001630	splice_region_variant	25914						binding	g.chr18:67801778C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2886-1G>A	18.37:g.67801778C>T						RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.W50_splice	p.W962_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			23	2954	-		Esophageal squamous(42;0.129)						Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	ENST00000255674.6	37	c.2886_splice	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734168	0.30684	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5212	0.87787	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTTN	65952758	1.000000	0.71417	0.996000	0.52242	0.066000	0.16364	4.703000	0.61824	2.665000	0.90641	0.585000	0.79938	.		0.333	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	Intron	4	31	0	0	0	0	4	31				
SAFB2	9667	broad.mit.edu	37	19	5604923	5604923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:5604923T>C	ENST00000252542.4	-	10	1585	c.1321A>G	c.(1321-1323)Aac>Gac	p.N441D	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	441	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGCGGGCGTTCGTTACCACT	0.517																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NA																	0					0						c.(1321-1323)AAC>GAC		scaffold attachment factor B2							66.0	65.0	65.0					19																	5604923		2203	4300	6503	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5604923T>C	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1321A>G	19.37:g.5604923T>C	ENSP00000252542:p.Asn441Asp						p.N441D	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	10	1533	-			441			RRM.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.1321A>G	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270081	0.80469	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.67865	-0.29	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000009	T	0.43875	0.1267	N	0.00368	-1.59	0.80722	D	1	P	0.34412	0.453	P	0.45377	0.478	T	0.63834	-0.6547	10	0.46703	T	0.11	-38.309	15.314	0.74059	0.0:0.0:0.0:1.0	.	441	Q14151	SAFB2_HUMAN	D	337;192;441;441	ENSP00000252542:N441D	ENSP00000252542:N441D	N	-	1	0	SAFB2	5555923	1.000000	0.71417	0.749000	0.31150	0.889000	0.51656	7.942000	0.87708	2.026000	0.59711	0.454000	0.30748	AAC		0.517	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		7	47	0	0	0	0	7	47				
S1PR5	53637	broad.mit.edu	37	19	10624909	10624909	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:10624909A>T	ENST00000439028.3	-	2	904	c.779T>A	c.(778-780)tTt>tAt	p.F260Y	S1PR5_ENST00000333430.4_Missense_Mutation_p.F260Y	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	260					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	ACATGCCACAAAGGCCAGGAG	0.716																																						uc002mot.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(778-780)TTT>TAT		endothelial differentiation, sphingolipid							20.0	20.0	20.0					19																	10624909		2187	4291	6478	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10624909A>T	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.779T>A	19.37:g.10624909A>T	ENSP00000416915:p.Phe260Tyr					S1PR5_uc002mou.1_Missense_Mutation_p.F260Y	p.F260Y	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	836	-			260			Helical; Name=6; (By similarity).		Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.779T>A	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817930	0.90790	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	T;T	0.53206	0.63;0.63	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.126941	0.53938	U	0.000056	T	0.74129	0.3676	M	0.92268	3.29	0.44227	D	0.997064	D	0.69078	0.997	D	0.83275	0.996	T	0.81022	-0.1121	10	0.87932	D	0	.	12.6802	0.56918	1.0:0.0:0.0:0.0	.	260	Q9H228	S1PR5_HUMAN	Y	260	ENSP00000416915:F260Y;ENSP00000328472:F260Y	ENSP00000328472:F260Y	F	-	2	0	S1PR5	10485909	1.000000	0.71417	0.864000	0.33941	0.779000	0.44077	8.936000	0.92931	1.842000	0.53543	0.402000	0.26972	TTT		0.716	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		7	4	0	0	0	0	7	4				
ZNF574	64763	broad.mit.edu	37	19	42584699	42584699	+	Silent	SNP	C	C	T	rs373559000		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:42584699C>T	ENST00000600245.1	+	2	2596	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.S647S|ZNF574_ENST00000222339.7_Silent_p.S737S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCTTCCCCTCCTCACTGCGGC	0.697																																						uc002osm.3		NA																	0					0						c.(1939-1941)TCC>TCT		zinc finger protein 574							41.0	45.0	44.0					19																	42584699		2201	4297	6498	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584699C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1941C>T	19.37:g.42584699C>T						ZNF574_uc002osk.3_Silent_p.S737S	p.S647S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	2110	+		Prostate(69;0.059)	647			C2H2-type 15; degenerate.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.1941C>T	CCDS12596.1																																																																																				0.697	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		16	64	0	0	0	0	16	64				
IRGQ	126298	broad.mit.edu	37	19	44097383	44097383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:44097383C>T	ENST00000602269.1	-	2	852	c.667G>A	c.(667-669)Gca>Aca	p.A223T	L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.A223T			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	223	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCCGTGCGCTGCCCAGG	0.682																																						uc002oww.2		NA																	0				ovary(1)|pancreas(1)	2						c.(667-669)GCA>ACA		immunity-related GTPase family, Q							36.0	39.0	38.0					19																	44097383		2201	4296	6497	SO:0001583	missense	126298						protein binding	g.chr19:44097383C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.667G>A	19.37:g.44097383C>T	ENSP00000472250:p.Ala223Thr					IRGQ_uc010eiv.2_Missense_Mutation_p.A223T	p.A223T	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	785	-		Prostate(69;0.0199)	223					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.667G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542294	0.65198	.	.	ENSG00000167378	ENST00000422989	T	0.48201	0.82	5.03	5.03	0.67393	.	0.335346	0.27100	N	0.020938	T	0.55289	0.1911	L	0.46157	1.445	0.31446	N	0.67138	D	0.89917	1.0	D	0.72338	0.977	T	0.52689	-0.8542	10	0.17369	T	0.5	-20.6325	9.601	0.39603	0.0:0.9072:0.0:0.0928	.	223	Q8WZA9	IRGQ_HUMAN	T	223	ENSP00000387535:A223T	ENSP00000387535:A223T	A	-	1	0	IRGQ	48789223	0.998000	0.40836	0.946000	0.38457	0.610000	0.37248	2.106000	0.41835	2.782000	0.95742	0.655000	0.94253	GCA		0.682	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		22	46	0	0	0	0	22	46				
LILRB1	10859	broad.mit.edu	37	19	55144748	55144748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:55144748C>G	ENST00000396331.1	+	8	1597	c.1240C>G	c.(1240-1242)Ccc>Gcc	p.P414A	LILRB1_ENST00000448689.1_Missense_Mutation_p.P414A|LILRB1_ENST00000396317.1_Missense_Mutation_p.P414A|LILRB1_ENST00000427581.2_Missense_Mutation_p.P450A|LILRB1_ENST00000396332.4_Missense_Mutation_p.P414A|LILRB1_ENST00000418536.2_Missense_Mutation_p.P414A|LILRB1_ENST00000396327.3_Missense_Mutation_p.P414A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P414A|LILRB1_ENST00000324602.7_Missense_Mutation_p.P414A|LILRB1_ENST00000396321.2_Missense_Mutation_p.P414A|LILRB1_ENST00000396315.1_Missense_Mutation_p.P414A|LILRB1_ENST00000462628.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	414					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCAGTGACCCCCTGGAGCT	0.622										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1240-1242)CCC>GCC		leukocyte immunoglobulin-like receptor,							79.0	84.0	82.0					19																	55144748		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144748C>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1240C>G	19.37:g.55144748C>G	ENSP00000379622:p.Pro414Ala	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P414A|LILRB1_uc002qgk.2_Missense_Mutation_p.P414A|LILRB1_uc002qgm.2_Missense_Mutation_p.P414A|LILRB1_uc010erq.2_Missense_Mutation_p.P414A|LILRB1_uc010err.2_RNA	p.P414A	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1580	+			414			Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1240C>G	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323140	0.24080	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00922	5.54;5.54;5.54;5.54;5.54;5.54;5.54;5.54;5.54;5.54;5.54	2.25	1.14	0.20703	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.252557	0.20966	N	0.082467	T	0.03827	0.0108	M	0.87097	2.86	0.09310	N	1	P;P;P;D;D	0.59767	0.658;0.797;0.888;0.986;0.975	B;P;P;P;P	0.61592	0.266;0.603;0.608;0.891;0.782	T	0.22626	-1.0211	10	0.56958	D	0.05	.	4.9098	0.13816	0.0:0.8051:0.0:0.1949	.	414;414;414;414;414	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	A	414;414;414;414;414;414;414;414;450;414;414	ENSP00000379614:P414A;ENSP00000391514:P414A;ENSP00000409968:P414A;ENSP00000379622:P414A;ENSP00000379618:P414A;ENSP00000315997:P414A;ENSP00000405243:P414A;ENSP00000379623:P414A;ENSP00000395004:P450A;ENSP00000379610:P414A;ENSP00000379608:P414A	ENSP00000315997:P414A	P	+	1	0	LILRB1	59836560	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	0.684000	0.25364	0.282000	0.22254	0.205000	0.17691	CCC		0.622	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			3	78	0	0	0	0	3	78				
SF3B1	23451	broad.mit.edu	37	2	198285265	198285265	+	Splice_Site	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr2:198285265T>C	ENST00000335508.6	-	4	393	c.302A>G	c.(301-303)tAt>tGt	p.Y101C	SF3B1_ENST00000409915.4_Splice_Site_p.Y101C|SF3B1_ENST00000414963.2_Splice_Site_p.Y101C|SF3B1_ENST00000487698.1_Splice_Site_p.Y101C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	101					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATGGATCATACTGAAAAGA	0.358			Mis		myelodysplastic syndrome																																	uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(301-303)TAT>TGT		splicing factor 3b, subunit 1 isoform 1							127.0	121.0	123.0					2																	198285265		2203	4300	6503	SO:0001630	splice_region_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198285265T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.301-1A>G	2.37:g.198285265T>C						SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Missense_Mutation_p.Y101C|SF3B1_uc002uug.2_Missense_Mutation_p.Y101C	p.Y101C	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		4	350	-			101					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.302A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910454	0.72983	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	L	0.46157	1.445	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.899	D;D;B	0.65684	0.937;0.923;0.428	T	0.67841	-0.5566	9	0.41790	T	0.15	.	16.6102	0.84881	0.0:0.0:0.0:1.0	.	101;101;101	B4DGZ4;E9PCH3;O75533	.;.;SF3B1_HUMAN	C	101	.	ENSP00000335321:Y101C	Y	-	2	0	SF3B1	197993510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.978000	0.70501	2.326000	0.78906	0.523000	0.50628	TAT		0.358	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		Missense_Mutation	37	23	0	0	0	0	37	23				
KIF1A	547	broad.mit.edu	37	2	241689923	241689923	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr2:241689923A>G	ENST00000320389.7	-	26	2755	c.2597T>C	c.(2596-2598)cTg>cCg	p.L866P	KIF1A_ENST00000498729.2_Missense_Mutation_p.L967P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	866					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGTGTACCAGGGGAACGGG	0.652																																						uc002vzy.2		NA																	0				lung(1)	1						c.(2596-2598)CTG>CCG		axonal transport of synaptic vesicles							61.0	69.0	66.0					2																	241689923		2150	4256	6406	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241689923A>G	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2597T>C	2.37:g.241689923A>G	ENSP00000322791:p.Leu866Pro					KIF1A_uc010fzk.2_Missense_Mutation_p.L967P|KIF1A_uc002vzz.1_Missense_Mutation_p.L967P	p.L866P	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	26	2743	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	866					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2597T>C	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404969	0.83230	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.80909	-1.43;-1.43;-1.43	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000005	D	0.89322	0.6682	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.983;0.999;0.988	D	0.90836	0.4720	10	0.87932	D	0	.	13.6892	0.62535	1.0:0.0:0.0:0.0	.	967;967;866	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	P	866;967;967;967	ENSP00000322791:L866P;ENSP00000438388:L967P;ENSP00000384231:L967P	ENSP00000322791:L866P	L	-	2	0	KIF1A	241338596	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.055000	0.93873	1.641000	0.50575	0.402000	0.26972	CTG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	52	0	0	0	0	3	52				
CHGB	1114	broad.mit.edu	37	20	5903296	5903296	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:5903296A>G	ENST00000378961.4	+	4	710	c.506A>G	c.(505-507)gAg>gGg	p.E169G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGAGGAGGAGGGAGAGAAC	0.512																																						uc002wmg.2		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(505-507)GAG>GGG		chromogranin B precursor							69.0	71.0	70.0					20																	5903296		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903296A>G		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.506A>G	20.37:g.5903296A>G	ENSP00000368244:p.Glu169Gly					CHGB_uc010zqz.1_5'UTR	p.E169G	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	812	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.506A>G	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572535	0.28092	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01854	4.6;4.6	4.9	2.49	0.30216	.	1.346040	0.04663	N	0.409187	T	0.02807	0.0084	L	0.34521	1.04	0.09310	N	1	B	0.20052	0.041	B	0.26202	0.067	T	0.45512	-0.9256	10	0.46703	T	0.11	-6.4427	4.7233	0.12929	0.6366:0.0:0.0818:0.2816	.	169	P05060	SCG1_HUMAN	G	169;149	ENSP00000368244:E169G;ENSP00000416643:E149G	ENSP00000368244:E169G	E	+	2	0	CHGB	5851296	0.854000	0.29725	0.008000	0.14137	0.004000	0.04260	1.663000	0.37429	0.720000	0.32209	0.460000	0.39030	GAG		0.512	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		3	47	0	0	0	0	3	47				
FOXS1	2307	broad.mit.edu	37	20	30433105	30433105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:30433105G>T	ENST00000375978.3	-	1	315	c.241C>A	c.(241-243)Cgc>Agc	p.R81S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	81					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R81C(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGGTCATCGCGGGGCACCTTG	0.637																																						uc002wwt.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(241-243)CGC>AGC		forkhead box S1							84.0	68.0	73.0					20																	30433105		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30433105G>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.241C>A	20.37:g.30433105G>T	ENSP00000365145:p.Arg81Ser						p.R81S	NM_004118	NP_004109	O43638	FOXS1_HUMAN			1	316	-			81			Fork-head.		Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.241C>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122800	0.77436	.	.	ENSG00000179772	ENST00000375978	D	0.96587	-4.06	4.76	4.76	0.60689	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.48767	D	0.000176	D	0.98738	0.9576	H	0.97783	4.075	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98842	1.0755	10	0.87932	D	0	.	11.6947	0.51536	0.0:0.0:0.823:0.1769	.	81	O43638	FOXS1_HUMAN	S	81	ENSP00000365145:R81S	ENSP00000365145:R81S	R	-	1	0	FOXS1	29896766	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.230000	0.65321	2.488000	0.83962	0.555000	0.69702	CGC		0.637	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		17	62	1	0	6.5e-13	1.29e-12	17	62				
GSS	2937	broad.mit.edu	37	20	33519179	33519179	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:33519179G>A	ENST00000216951.2	-	11	1169	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	GSS_ENST00000541098.1_Silent_p.A229A|GSS_ENST00000451957.2_Silent_p.A246A	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	357					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	ACCGGCTAGGGGCAGCAAGGG	0.562																																						uc002xbg.2		NA																	0				ovary(3)	3						c.(1069-1071)GCC>GCT		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						67.0	56.0	60.0					20																	33519179		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33519179G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1071C>T	20.37:g.33519179G>A						GSS_uc010zun.1_Silent_p.A229A|GSS_uc010zuo.1_Silent_p.A246A|GSS_uc010zup.1_Silent_p.A288A|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Silent_p.A87A	p.A357A	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		11	1151	-			357					B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.1071C>T	CCDS13245.1																																																																																				0.562	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			9	33	0	0	0	0	9	33				
CABIN1	23523	broad.mit.edu	37	22	24439496	24439496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr22:24439496C>T	ENST00000398319.2	+	6	861	c.476C>T	c.(475-477)cCc>cTc	p.P159L	CABIN1_ENST00000405822.2_Missense_Mutation_p.P159L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P159L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	159					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GACCACTGGCCCTGTTTGGAT	0.512																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(475-477)CCC>CTC		calcineurin binding protein 1							141.0	113.0	123.0					22																	24439496		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24439496C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.476C>T	22.37:g.24439496C>T	ENSP00000381364:p.Pro159Leu					CABIN1_uc002zzj.1_Missense_Mutation_p.P159L|CABIN1_uc002zzl.1_Missense_Mutation_p.P159L|CABIN1_uc010guk.1_Missense_Mutation_p.P114L|CABIN1_uc002zzk.1_Missense_Mutation_p.P114L	p.P159L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			6	603	+			159					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.476C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488135	0.84854	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.73047	-0.71;1.27;1.27;-0.71;1.27	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	L	0.58810	1.83	0.80722	D	1	D;D;B;B	0.71674	0.998;0.995;0.32;0.214	D;P;B;B	0.64595	0.927;0.799;0.42;0.193	T	0.82104	-0.0622	10	0.59425	D	0.04	.	18.1902	0.89805	0.0:1.0:0.0:0.0	.	114;159;159;159	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	L	114;159;159;114;159;159	ENSP00000394209:P114L;ENSP00000263119:P159L;ENSP00000384694:P159L;ENSP00000412389:P114L;ENSP00000381364:P159L	ENSP00000263119:P159L	P	+	2	0	CABIN1	22769496	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.713000	0.84693	2.630000	0.89119	0.558000	0.71614	CCC		0.512	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		15	83	0	0	0	0	15	83				
MYO18B	84700	broad.mit.edu	37	22	26164180	26164180	+	Silent	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr22:26164180T>C	ENST00000407587.2	+	4	466	c.297T>C	c.(295-297)ccT>ccC	p.P99P	MYO18B_ENST00000335473.7_Silent_p.P99P|MYO18B_ENST00000536101.1_Silent_p.P99P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	99	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGCTCTCCTGGGAGCTCAG	0.582																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(295-297)CCT>CCC		myosin XVIIIB							94.0	100.0	98.0					22																	26164180		1972	4151	6123	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164180T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.297T>C	22.37:g.26164180T>C						MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.P99P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	547	+			99			Ser-rich.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.297T>C																																																																																					0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		16	136	0	0	0	0	16	136				
PARP15	165631	broad.mit.edu	37	3	122354785	122354785	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:122354785C>T	ENST00000464300.2	+	12	1941	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.F391F|PARP15_ENST00000493645.1_Silent_p.F322F|PARP15_ENST00000483793.1_Silent_p.F430F	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	625	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTGGAGTCTTCACAAAGGGAC	0.488																																						uc003efm.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1873-1875)TTC>TTT		poly (ADP-ribose) polymerase family, member 15							165.0	135.0	145.0					3																	122354785		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122354785C>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1875C>T	3.37:g.122354785C>T						PARP15_uc003efn.2_Silent_p.F430F|PARP15_uc003efo.1_Silent_p.F372F|PARP15_uc003efp.1_Silent_p.F391F|PARP15_uc011bjt.1_Silent_p.F322F	p.F625F	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	1941	+			603			PARP catalytic.		J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.1875C>T	CCDS46893.1																																																																																				0.488	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		16	40	0	0	0	0	16	40				
DNAJC13	23317	broad.mit.edu	37	3	132219737	132219737	+	Missense_Mutation	SNP	C	C	T	rs370216085		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:132219737C>T	ENST00000260818.6	+	39	4764	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1506					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGATCTCTGTCGGGTACTATA	0.418																																						uc003eor.2		NA																	0				ovary(1)|breast(1)	2						c.(4516-4518)CGG>TGG		DnaJ (Hsp40) homolog, subfamily C, member 13		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	199.0	191.0	194.0		4516	5.0	1.0	3		194	0,8600		0,0,4300	no	missense	DNAJC13	NM_015268.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1506/2244	132219737	1,13005	2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132219737C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4516C>T	3.37:g.132219737C>T	ENSP00000260818:p.Arg1506Trp						p.R1506W	NM_015268	NP_056083	O75165	DJC13_HUMAN			39	4581	+			1506					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4516C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122281	0.77436	2.27E-4	0.0	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.51817	0.69	5.86	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.067470	0.64402	D	0.000010	T	0.63165	0.2488	M	0.84326	2.69	0.54753	D	0.999989	D	0.71674	0.998	P	0.53185	0.72	T	0.70898	-0.4747	10	0.87932	D	0	.	13.6001	0.62013	0.4174:0.5826:0.0:0.0	.	1506	O75165	DJC13_HUMAN	W	1506;153	ENSP00000260818:R1506W	ENSP00000260818:R1506W	R	+	1	2	DNAJC13	133702427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.923000	0.56469	1.605000	0.50152	0.650000	0.86243	CGG		0.418	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		35	79	0	0	0	0	35	79				
MED12L	116931	broad.mit.edu	37	3	151112629	151112629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:151112629C>T	ENST00000474524.1	+	37	5727	c.5689C>T	c.(5689-5691)Caa>Taa	p.Q1897*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.Q1757*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1897	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTCTCAGGCAAGCCCAGAC	0.512																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5689-5691)CAA>TAA		mediator of RNA polymerase II transcription,							66.0	67.0	67.0					3																	151112629		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151112629C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5689C>T	3.37:g.151112629C>T	ENSP00000417235:p.Gln1897*					MED12L_uc011bnz.1_Nonsense_Mutation_p.Q1757*	p.Q1897*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		37	5727	+			1897			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.5689C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	47	13.836521	0.99766	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.91	5.91	0.95273	.	0.224287	0.41097	D	0.000955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.0836	18.0716	0.89408	0.0:1.0:0.0:0.0	.	.	.	.	X	1897;1757	.	ENSP00000273432:Q1757X	Q	+	1	0	MED12L	152595319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.793000	0.96121	0.655000	0.94253	CAA		0.512	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		16	101	0	0	0	0	16	101				
DGKG	1608	broad.mit.edu	37	3	185975671	185975671	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:185975671C>T	ENST00000265022.3	-	17	2021	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	DGKG_ENST00000544847.1_Silent_p.G435G|DGKG_ENST00000344484.4_Silent_p.G469G|DGKG_ENST00000382164.4_Silent_p.G455G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	494	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGCCAACTGTCCCATCTCCAC	0.448																																						uc003fqa.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1480-1482)GGG>GGA		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						128.0	115.0	119.0					3																	185975671		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185975671C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1482G>A	3.37:g.185975671C>T						DGKG_uc003fqb.2_Silent_p.G455G|DGKG_uc003fqc.2_Silent_p.G469G|DGKG_uc011brx.1_Silent_p.G435G	p.G494G	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	17	2019	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		494			DAGKc.		B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.1482G>A	CCDS3274.1																																																																																				0.448	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			46	63	0	0	0	0	46	63				
PGM2	55276	broad.mit.edu	37	4	37848566	37848566	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:37848566T>G	ENST00000381967.4	+	9	1122	c.1022T>G	c.(1021-1023)gTg>gGg	p.V341G	PGM2_ENST00000544359.1_Missense_Mutation_p.V202G|PGM2_ENST00000537241.1_Missense_Mutation_p.V181G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	341					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GAATGGAGGGTGTTTTCAGGC	0.428																																						uc011byb.1		NA																	0				ovary(1)	1						c.(1021-1023)GTG>GGG		phosphoglucomutase 2							96.0	107.0	103.0					4																	37848566		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848566T>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1022T>G	4.37:g.37848566T>G	ENSP00000371393:p.Val341Gly					PGM2_uc011bya.1_Missense_Mutation_p.V202G|PGM2_uc011byc.1_Missense_Mutation_p.V181G	p.V341G	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			9	1095	+			341					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1022T>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392619	0.83011	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T	0.40476	1.03;1.82	5.78	5.78	0.91487	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.87827	2.91	0.80722	D	1	B;P	0.49862	0.207;0.929	B;B	0.43155	0.152;0.41	T	0.65705	-0.6103	10	0.66056	D	0.02	-16.2339	16.1205	0.81351	0.0:0.0:0.0:1.0	.	341;202	Q96G03;B4E0G8	PGM2_HUMAN;.	G	341;202;181	ENSP00000371393:V341G;ENSP00000437342:V181G	ENSP00000371393:V341G	V	+	2	0	PGM2	37524961	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.967000	0.87967	2.205000	0.71048	0.533000	0.62120	GTG		0.428	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		8	73	0	0	0	0	8	73				
CWH43	80157	broad.mit.edu	37	4	49030675	49030675	+	Silent	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:49030675C>A	ENST00000226432.4	+	10	1479	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	CWH43_ENST00000513409.1_Silent_p.I405I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	432					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGCTGCCATCTGGCCTTTCA	0.448																																						uc003gyv.2		NA																	0				skin(2)|ovary(1)	3						c.(1294-1296)ATC>ATA		cell wall biogenesis 43 C-terminal homolog							97.0	88.0	91.0					4																	49030675		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49030675C>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1296C>A	4.37:g.49030675C>A						CWH43_uc011bzl.1_Silent_p.I405I	p.I432I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			10	1478	+			432					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1296C>A	CCDS3486.1																																																																																				0.448	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		9	32	1	0	1.77e-08	3.33e-08	9	32				
ADH1C	126	broad.mit.edu	37	4	100268199	100268199	+	RNA	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:100268199C>T	ENST00000510055.1	-	0	397				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAAACACTTTCCACGATGCCG	0.522																																						uc003huu.2		NA																	0					0						c.(223-225)GAA>AAA		class I alcohol dehydrogenase, gamma subunit	Fomepizole(DB01213)|NADH(DB00157)						209.0	201.0	203.0					4																	100268199		2203	4300	6503			126	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268199C>T	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268199C>T							p.E75K	NM_000669	NP_000660	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	3	308	-			75					Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.223G>A																																																																																					0.522	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		56	189	0	0	0	0	56	189				
SYNPO2	171024	broad.mit.edu	37	4	119951990	119951990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:119951990C>A	ENST00000429713.2	+	4	2242	c.2060C>A	c.(2059-2061)gCc>gAc	p.A687D	SYNPO2_ENST00000307142.4_Missense_Mutation_p.A687D|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A687D|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	687						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCAGGAGGCCAAAAGGAGA	0.463																																						uc003icm.3		NA																	0				ovary(2)	2						c.(2059-2061)GCC>GAC		synaptopodin 2 isoform b							85.0	93.0	90.0					4																	119951990		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951990C>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2060C>A	4.37:g.119951990C>A	ENSP00000395143:p.Ala687Asp					SYNPO2_uc010ina.2_Missense_Mutation_p.A687D|SYNPO2_uc010inb.2_Missense_Mutation_p.A687D|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A615D	p.A687D	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2256	+			687					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2060C>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469194	0.63625	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.20332	2.08;2.12;2.1	5.18	4.33	0.51752	.	0.094050	0.46758	D	0.000279	T	0.44371	0.1290	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.78314	0.968;0.974;0.991;0.941	T	0.36237	-0.9756	9	.	.	.	-17.7374	13.7832	0.63094	0.0:0.9255:0.0:0.0744	.	687;687;687;687	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	D	687	ENSP00000306015:A687D;ENSP00000395143:A687D;ENSP00000390965:A687D	.	A	+	2	0	SYNPO2	120171438	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.083000	0.71326	1.182000	0.42928	0.655000	0.94253	GCC		0.463	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			11	34	1	0	1.59e-06	2.92e-06	11	34				
ANKH	56172	broad.mit.edu	37	5	14758681	14758681	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:14758681T>A	ENST00000284268.6	-	3	670	c.340A>T	c.(340-342)Atc>Ttc	p.I114F	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	114					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTTATTGATAATGTAGTAT	0.418																																						uc003jfm.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(340-342)ATC>TTC		progressive ankylosis protein							123.0	114.0	117.0					5																	14758681		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14758681T>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.340A>T	5.37:g.14758681T>A	ENSP00000284268:p.Ile114Phe						p.I114F	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			3	671	-			114			Extracellular (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.340A>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.937829	0.92526	.	.	ENSG00000154122	ENST00000284268	D	0.95853	-3.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96999	0.9020	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.97418	1.0007	10	0.62326	D	0.03	-14.3772	14.8052	0.69948	0.0:0.0:0.0:1.0	.	114	Q9HCJ1	ANKH_HUMAN	F	114	ENSP00000284268:I114F	ENSP00000284268:I114F	I	-	1	0	ANKH	14811681	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.977000	0.88081	2.093000	0.63338	0.460000	0.39030	ATC		0.418	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		12	47	0	0	0	0	12	47				
PCDHGA3	56112	broad.mit.edu	37	5	140724693	140724693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:140724693G>C	ENST00000253812.6	+	1	1093	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGAAGAGAAATTGCTCT	0.443																																						uc003ljm.1		NA																	0				breast(1)	1						c.(1093-1095)GAA>CAA		protocadherin gamma subfamily A, 3 isoform 1							114.0	117.0	116.0					5																	140724693		1994	4187	6181	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724693G>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1093G>C	5.37:g.140724693G>C	ENSP00000253812:p.Glu365Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.E125Q|PCDHGA3_uc011dap.1_Missense_Mutation_p.E365Q	p.E365Q	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1093	+			365			Cadherin 4.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1093G>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.297551	0.40694	.	.	ENSG00000254245	ENST00000253812	T	0.54479	0.57	5.41	4.31	0.51392	Cadherin (3);Cadherin-like (1);	0.775844	0.09781	U	0.756675	T	0.48519	0.1504	L	0.28014	0.82	0.21416	N	0.999696	P;P	0.37824	0.555;0.609	B;B	0.43623	0.3;0.425	T	0.46373	-0.9196	10	0.87932	D	0	.	12.6081	0.56535	0.1148:0.0:0.8852:0.0	.	365;365	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	365	ENSP00000253812:E365Q	ENSP00000253812:E365Q	E	+	1	0	PCDHGA3	140704877	0.000000	0.05858	0.998000	0.56505	0.485000	0.33311	0.303000	0.19210	2.709000	0.92574	0.655000	0.94253	GAA		0.443	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		34	44	0	0	0	0	34	44				
RNF145	153830	broad.mit.edu	37	5	158630622	158630622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:158630622C>A	ENST00000424310.2	-	2	363	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RNF145_ENST00000519865.1_Missense_Mutation_p.A2S|RNF145_ENST00000521606.2_Missense_Mutation_p.A19S|RNF145_ENST00000520638.1_Missense_Mutation_p.A16S|RNF145_ENST00000274542.2_Missense_Mutation_p.A30S|RNF145_ENST00000518802.1_Missense_Mutation_p.A32S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	2						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTTGCAGCCATGTTGttt	0.373																																						uc003lxp.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(4-6)GCT>TCT		ring finger protein 145							75.0	71.0	72.0					5																	158630622		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158630622C>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.4G>T	5.37:g.158630622C>A	ENSP00000409064:p.Ala2Ser					RNF145_uc011ddy.1_Missense_Mutation_p.A16S|RNF145_uc003lxo.1_Missense_Mutation_p.A30S|RNF145_uc011ddz.1_Missense_Mutation_p.A19S|RNF145_uc010jiq.1_Missense_Mutation_p.A32S|RNF145_uc011dea.1_Missense_Mutation_p.A18S	p.A2S	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	317	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	2					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.4G>T	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332098	0.60853	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.79033	-1.19;-1.23;-1.23;-1.17;-1.17;-1.19;-1.17	5.76	4.89	0.63831	.	0.143075	0.64402	D	0.000006	T	0.63920	0.2552	N	0.19112	0.55	0.53688	D	0.999978	B;P;P;P;B;P	0.38827	0.256;0.518;0.518;0.518;0.043;0.649	B;B;B;B;B;B	0.35182	0.046;0.097;0.097;0.097;0.055;0.197	T	0.65981	-0.6036	10	0.36615	T	0.2	-16.2644	15.2055	0.73175	0.0:0.9313:0.0:0.0687	.	18;19;16;32;2;30	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	S	30;2;2;18;19;32;2;16	ENSP00000274542:A30S;ENSP00000430397:A2S;ENSP00000409064:A2S;ENSP00000430753:A18S;ENSP00000445115:A19S;ENSP00000430955:A32S;ENSP00000429071:A16S	ENSP00000274542:A30S	A	-	1	0	RNF145	158563200	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.730000	0.68546	2.724000	0.93272	0.585000	0.79938	GCT		0.373	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		15	30	1	0	6.32e-08	1.18e-07	15	30				
TBC1D9B	23061	broad.mit.edu	37	5	179320402	179320402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:179320402C>T	ENST00000356834.3	-	5	680	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E215K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	215						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGATGCTCTCGGGGAAGAGC	0.587																																						uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(643-645)GAG>AAG		TBC1 domain family, member 9B (with GRAM domain)							94.0	79.0	84.0					5																	179320402		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179320402C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.643G>A	5.37:g.179320402C>T	ENSP00000349291:p.Glu215Lys					TBC1D9B_uc003mli.2_Missense_Mutation_p.E215K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E215K	p.E215K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	680	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	215					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.643G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747375	0.89663	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.09163	3.01;3.09	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.68593	2.085	0.80722	D	1	D;D;D	0.65815	0.99;0.994;0.995	P;P;P	0.57371	0.664;0.819;0.776	T	0.01839	-1.1263	10	0.42905	T	0.14	-27.8328	17.0652	0.86557	0.0:1.0:0.0:0.0	.	215;215;215	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	K	215	ENSP00000349291:E215K;ENSP00000347375:E215K	ENSP00000347375:E215K	E	-	1	0	TBC1D9B	179253008	1.000000	0.71417	0.998000	0.56505	0.353000	0.29299	7.576000	0.82467	2.272000	0.75746	0.313000	0.20887	GAG		0.587	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		17	14	0	0	0	0	17	14				
FRS3	10817	broad.mit.edu	37	6	41738404	41738404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:41738404C>A	ENST00000373018.3	-	7	1683	c.1432G>T	c.(1432-1434)Ggc>Tgc	p.G478C	FRS3_ENST00000259748.2_Missense_Mutation_p.G478C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	478					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGCGGTGCCATCGTCTCGG	0.627																																						uc003orc.1		NA																	0				ovary(2)	2						c.(1432-1434)GGC>TGC		fibroblast growth factor receptor substrate 3							110.0	102.0	105.0					6																	41738404		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738404C>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1432G>T	6.37:g.41738404C>A	ENSP00000362109:p.Gly478Cys						p.G478C	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1676	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		478					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1432G>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463908	0.84425	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.31510	1.49;1.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50651	-0.8803	10	0.87932	D	0	-35.6982	19.6559	0.95842	0.0:1.0:0.0:0.0	.	478	O43559	FRS3_HUMAN	C	478	ENSP00000362109:G478C;ENSP00000259748:G478C	ENSP00000259748:G478C	G	-	1	0	FRS3	41846382	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	6.006000	0.70724	2.755000	0.94549	0.655000	0.94253	GGC		0.627	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		17	64	1	0	3.41e-10	6.51e-10	17	64				
PKHD1	5314	broad.mit.edu	37	6	51524466	51524466	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:51524466C>T	ENST00000371117.3	-	61	10733	c.10458G>A	c.(10456-10458)ttG>ttA	p.L3486L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3486					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTTGTTCCCCAATAGAAAAA	0.453																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10456-10458)TTG>TTA		fibrocystin isoform 1							71.0	72.0	72.0					6																	51524466		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524466C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10458G>A	6.37:g.51524466C>T							p.L3486L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	10734	-	Lung NSC(77;0.0605)		3486			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10458G>A	CCDS4935.1																																																																																				0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	32	0	0	0	0	14	32				
FAM135A	57579	broad.mit.edu	37	6	71247998	71247998	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:71247998C>T	ENST00000418814.2	+	20	4736	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	FAM135A_ENST00000457062.2_Silent_p.L1161L|FAM135A_ENST00000505868.1_Silent_p.L1374L|FAM135A_ENST00000370479.3_Silent_p.L1161L|FAM135A_ENST00000505769.1_Silent_p.L954L|FAM135A_ENST00000361499.3_Silent_p.L1178L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1374										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTCTAGGTCTCTGGTTTATGC	0.308																																						uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(4120-4122)CTC>CTT		hypothetical protein LOC57579 isoform c							48.0	49.0	49.0					6																	71247998		2203	4300	6503	SO:0001819	synonymous_variant	57579							g.chr6:71247998C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.4122C>T	6.37:g.71247998C>T						FAM135A_uc003pfi.2_Silent_p.L1178L|FAM135A_uc003pfh.2_Silent_p.L1161L|FAM135A_uc003pfl.2_Silent_p.L1041L|FAM135A_uc003pfn.2_Silent_p.L580L|FAM135A_uc003pfo.1_Silent_p.L745L|FAM135A_uc010kan.1_Intron	p.L1374L	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			18	4255	+			1374					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.4122C>T	CCDS55028.1																																																																																				0.308	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		11	14	0	0	0	0	11	14				
TBX20	57057	broad.mit.edu	37	7	35288434	35288434	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:35288434G>C	ENST00000408931.3	-	3	926	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	134					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAGGACACCCGGATGGTTGGA	0.532																																						uc011kas.1		NA																	0				central_nervous_system(1)	1						c.(400-402)CGG>GGG		T-box transcription factor TBX20							75.0	70.0	72.0					7																	35288434		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35288434G>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.400C>G	7.37:g.35288434G>C	ENSP00000386170:p.Arg134Gly						p.R134G	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			3	411	-			134			T-box.		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.400C>G	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385691	0.82792	.	.	ENSG00000164532	ENST00000408931	D	0.88664	-2.41	5.87	5.87	0.94306	p53-like transcription factor, DNA-binding (1);	0.053823	0.85682	D	0.000000	D	0.95360	0.8494	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95560	0.8628	10	0.87932	D	0	.	15.2181	0.73285	0.0:0.0:0.8275:0.1725	.	134	Q9UMR3	TBX20_HUMAN	G	134	ENSP00000386170:R134G	ENSP00000386170:R134G	R	-	1	2	TBX20	35254959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.388000	0.79795	2.941000	0.99782	0.655000	0.94253	CGG		0.532	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		5	48	0	0	0	0	5	48				
URGCP	55665	broad.mit.edu	37	7	43917489	43917489	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:43917489T>C	ENST00000453200.1	-	6	2066	c.1573A>G	c.(1573-1575)Agg>Ggg	p.R525G	URGCP_ENST00000402306.3_Missense_Mutation_p.R516G|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.R482G|URGCP_ENST00000443736.1_Missense_Mutation_p.R482G|URGCP_ENST00000447717.3_Missense_Mutation_p.R482G|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.R482G			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	525					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCTCAGCCCTGTGCTTCTCA	0.647																																						uc003tiw.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1573-1575)AGG>GGG		up-regulated gene 4 isoform 3							50.0	53.0	52.0					7																	43917489		1966	4160	6126	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917489T>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1573A>G	7.37:g.43917489T>C	ENSP00000396918:p.Arg525Gly					URGCP_uc003tiu.2_Missense_Mutation_p.R482G|URGCP_uc003tiv.2_Missense_Mutation_p.R450G|URGCP_uc003tix.2_Missense_Mutation_p.R516G|URGCP_uc003tiy.2_Missense_Mutation_p.R482G|URGCP_uc003tiz.2_Missense_Mutation_p.R482G|URGCP_uc011kbj.1_Missense_Mutation_p.R482G	p.R525G	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1630	-			525					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1573A>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684790	0.47991	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88	5.79	3.58	0.41010	.	0.304152	0.34986	N	0.003529	T	0.15219	0.0367	M	0.72118	2.19	0.20403	N	0.999902	P;P	0.41848	0.763;0.763	B;B	0.39027	0.288;0.288	T	0.05903	-1.0857	10	0.72032	D	0.01	-34.4742	12.8691	0.57955	0.0:0.0:0.6462:0.3538	.	516;525	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	G	482;482;516;482;525;482	ENSP00000223341:R482G;ENSP00000336872:R482G;ENSP00000384955:R516G;ENSP00000392136:R482G;ENSP00000396918:R525G;ENSP00000402803:R482G	ENSP00000223341:R482G	R	-	1	2	URGCP	43884014	0.922000	0.31269	0.047000	0.18901	0.996000	0.88848	1.205000	0.32308	0.546000	0.28920	0.533000	0.62120	AGG		0.647	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		3	89	0	0	0	0	3	89				
C7orf62	219557	broad.mit.edu	37	7	88423535	88423535	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:88423535A>G	ENST00000297203.2	-	2	907	c.722T>C	c.(721-723)cTg>cCg	p.L241P	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	241										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTCAGAATCCAGAGTGATGTG	0.403																																						uc003ujv.2		NA																	0					0						c.(721-723)CTG>CCG		hypothetical protein LOC219557							79.0	80.0	80.0					7																	88423535		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423535A>G	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.722T>C	7.37:g.88423535A>G	ENSP00000297203:p.Leu241Pro					ZNF804B_uc011khi.1_Intron	p.L241P	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	904	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		241						Missense_Mutation	SNP	ENST00000297203.2	37	c.722T>C	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702634	0.30232	.	.	ENSG00000164645	ENST00000297203	T	0.19105	2.17	6.17	3.82	0.43975	.	0.848483	0.10534	N	0.663493	T	0.36908	0.0984	M	0.66939	2.045	0.43088	D	0.994759	D	0.57571	0.98	P	0.56700	0.804	T	0.04621	-1.0938	10	0.87932	D	0	-19.0221	7.6287	0.28226	0.8356:0.0:0.1644:0.0	.	241	Q8TBZ9	CG062_HUMAN	P	241	ENSP00000297203:L241P	ENSP00000297203:L241P	L	-	2	0	C7orf62	88261471	0.259000	0.24043	0.084000	0.20598	0.073000	0.16967	1.825000	0.39081	0.571000	0.29365	0.533000	0.62120	CTG		0.403	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		15	23	0	0	0	0	15	23				
AKAP9	10142	broad.mit.edu	37	7	91659267	91659267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:91659267G>T	ENST00000359028.2	+	16	4468	c.4243G>T	c.(4243-4245)Gga>Tga	p.G1415*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.G1403*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.G1415*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1415					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTACCCTGGAAGTTGTGT	0.269			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(4207-4209)GGA>TGA		A-kinase anchor protein 9 isoform 2							113.0	121.0	118.0					7																	91659267		2203	4299	6502	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91659267G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4243G>T	7.37:g.91659267G>T	ENSP00000351922:p.Gly1415*					AKAP9_uc003ule.2_Nonsense_Mutation_p.G1415*|AKAP9_uc003ulf.2_Nonsense_Mutation_p.G1403*|AKAP9_uc003uli.2_Nonsense_Mutation_p.G1028*	p.G1403*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		15	4432	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1415					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.4207G>T		.	.	.	.	.	.	.	.	.	.	G	43	9.917166	0.99295	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	4.2	4.2	0.49525	.	0.471757	0.15822	N	0.242968	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.4051	0.55434	0.0:0.0:1.0:0.0	.	.	.	.	X	1403;1415;1415;1415;1415	.	ENSP00000348573:G1403X	G	+	1	0	AKAP9	91497203	1.000000	0.71417	0.933000	0.37362	0.734000	0.41952	3.781000	0.55394	2.648000	0.89879	0.585000	0.79938	GGA		0.269	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		47	47	1	0	1.4e-22	2.82e-22	47	47				
RBM48	84060	broad.mit.edu	37	7	92161858	92161858	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:92161858A>G	ENST00000265732.5	+	3	484	c.443A>G	c.(442-444)aAt>aGt	p.N148S	RBM48_ENST00000481551.1_Missense_Mutation_p.N148S	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	148						nucleus (GO:0005634)	RNA binding (GO:0003723)										ACTACTGAAAATAAAGGTATG	0.413																																						uc003ulz.2		NA																	0				ovary(2)	2						c.(442-444)AAT>AGT		hypothetical protein LOC84060							76.0	70.0	72.0					7																	92161858		1905	4118	6023	SO:0001583	missense	84060						nucleotide binding	g.chr7:92161858A>G	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.443A>G	7.37:g.92161858A>G	ENSP00000265732:p.Asn148Ser					C7orf64_uc011khu.1_Missense_Mutation_p.N148S|C7orf64_uc003uma.2_Missense_Mutation_p.N148S	p.N148S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			3	484	+			148					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.443A>G	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	3.141	-0.176419	0.06380	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000496410;ENST00000450580	.	.	.	5.08	0.637	0.17735	.	0.361124	0.34338	N	0.004054	T	0.27454	0.0674	L	0.52266	1.64	0.09310	N	1	B;B;B	0.18741	0.005;0.03;0.004	B;B;B	0.13407	0.001;0.009;0.005	T	0.09907	-1.0653	9	0.23302	T	0.38	-2.5314	2.2488	0.04038	0.5921:0.1218:0.1518:0.1343	.	148;148;148	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	S	148;148;90;148	.	ENSP00000265732:N148S	N	+	2	0	C7orf64	91999794	0.837000	0.29446	0.978000	0.43139	0.129000	0.20672	0.897000	0.28390	0.259000	0.21709	0.482000	0.46254	AAT		0.413	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		22	18	0	0	0	0	22	18				
PXDNL	137902	broad.mit.edu	37	8	52320774	52320774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:52320774G>A	ENST00000356297.4	-	17	3510	c.3410C>T	c.(3409-3411)tCg>tTg	p.S1137L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1137L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGGCAGCCGAATCCACGGC	0.522																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3409-3411)TCG>TTG		peroxidasin homolog-like precursor							83.0	88.0	86.0					8																	52320774		1882	4112	5994	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320774G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3410C>T	8.37:g.52320774G>A	ENSP00000348645:p.Ser1137Leu					PXDNL_uc003xqt.3_RNA	p.S1137L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3511	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1137					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3410C>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.004|0.004	-2.256442|-2.256442	0.00265|0.00265	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.58940	.|0.3;0.3	3.82|3.82	1.28|1.28	0.21552|0.21552	.|.	.|0.569752	.|0.14168	.|N	.|0.336916	T|T	0.05273|0.05273	0.0140|0.0140	N|N	0.00000|0.00000	-4.495|-4.495	0.23909|0.23909	N|N	0.996498|0.996498	.|B	.|0.09022	.|0.002	.|B	.|0.01281	.|0.0	T|T	0.49184|0.49184	-0.8966|-0.8966	5|10	.|0.02654	.|T	.|1	.|.	6.7378|6.7378	0.23419|0.23419	0.7944:0.0:0.2056:0.0|0.7944:0.0:0.2056:0.0	.|.	.|1137	.|A1KZ92	.|PXDNL_HUMAN	W|L	256|1137	.|ENSP00000348645:S1137L;ENSP00000444865:S1137L	.|ENSP00000348645:S1137L	R|S	-|-	1|2	2|0	PXDNL|PXDNL	52483327|52483327	0.998000|0.998000	0.40836|0.40836	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	4.225000|4.225000	0.58600|0.58600	-0.037000|-0.037000	0.13646|0.13646	-0.768000|-0.768000	0.03414|0.03414	CGG|TCG		0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	125	0	0	0	0	10	125				
PXDNL	137902	broad.mit.edu	37	8	52336259	52336259	+	Silent	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:52336259G>A	ENST00000356297.4	-	14	1771	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	PXDNL_ENST00000543296.1_Silent_p.F557F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	557	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCACATGGAATTTACCAC	0.433																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1669-1671)TTC>TTT		peroxidasin homolog-like precursor							109.0	119.0	115.0					8																	52336259		2166	4274	6440	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336259G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1671C>T	8.37:g.52336259G>A							p.F557F	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			14	1772	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	557			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1671C>T	CCDS47855.1																																																																																				0.433	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		9	38	0	0	0	0	9	38				
KIAA1429	25962	broad.mit.edu	37	8	95531399	95531399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:95531399C>T	ENST00000297591.5	-	9	2402	c.2327G>A	c.(2326-2328)aGc>aAc	p.S776N	KIAA1429_ENST00000421249.2_Missense_Mutation_p.S776N|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S776N	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	776					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTGAAAATGGCTGAACAGTTC	0.423																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(2326-2328)AGC>AAC		hypothetical protein LOC25962 isoform 1							115.0	103.0	107.0					8																	95531399		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531399C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2327G>A	8.37:g.95531399C>T	ENSP00000297591:p.Ser776Asn					KIAA1429_uc003ygp.2_Missense_Mutation_p.S776N|KIAA1429_uc010maz.1_RNA	p.S776N	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2340	-	Breast(36;3.29e-05)		776					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.2327G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380776	0.24944	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	2.77	0.32553	.	0.264346	0.50627	N	0.000116	T	0.43277	0.1240	N	0.14661	0.345	0.26728	N	0.970653	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20706	-1.0267	10	0.25751	T	0.34	-1.6794	6.6593	0.23004	0.0:0.6663:0.1285:0.2052	.	776;776	Q69YN4-4;Q69YN4	.;VIR_HUMAN	N	776	ENSP00000297591:S776N;ENSP00000395600:S776N;ENSP00000398390:S776N	ENSP00000297591:S776N	S	-	2	0	KIAA1429	95600575	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.153000	0.42282	0.390000	0.25115	-0.259000	0.10710	AGC		0.423	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		8	55	0	0	0	0	8	55				
UBR5	51366	broad.mit.edu	37	8	103287969	103287969	+	Silent	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:103287969T>A	ENST00000520539.1	-	46	7203	c.6597A>T	c.(6595-6597)gtA>gtT	p.V2199V	UBR5_ENST00000220959.4_Silent_p.V2199V|UBR5_ENST00000518205.1_5'Flank|UBR5_ENST00000521922.1_Silent_p.V2193V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2199					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCATGAATACCCTGCCGA	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(6595-6597)GTA>GTT		ubiquitin protein ligase E3 component n-recognin							95.0	81.0	86.0					8																	103287969		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103287969T>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6597A>T	8.37:g.103287969T>A						UBR5_uc003yks.1_Silent_p.V2199V	p.V2199V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		46	6630	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2199					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6597A>T	CCDS34933.1																																																																																				0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		12	32	0	0	0	0	12	32				
MTSS1	9788	broad.mit.edu	37	8	125597387	125597387	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:125597387C>A	ENST00000518547.1	-	6	874	c.401G>T	c.(400-402)cGc>cTc	p.R134L	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.R134L|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134L	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(400-402)CGC>CTC		metastasis suppressor 1							170.0	166.0	167.0					8																	125597387		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597387C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.401G>T	8.37:g.125597387C>A	ENSP00000429064:p.Arg134Leu					MTSS1_uc003yrj.2_Missense_Mutation_p.R134L|MTSS1_uc003yrl.2_Missense_Mutation_p.R134L	p.R134L	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	935	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		134			IMD.|Potential.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.401G>T	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.283671|4.283671	0.80803|0.80803	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000522162|ENST00000378017;ENST00000518547;ENST00000325064	.|T;T;T	.|0.39997	.|1.07;1.14;1.05	5.31|5.31	5.31|5.31	0.75309|0.75309	.|IRSp53/MIM homology domain (IMD) (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68851|0.68851	0.3046|0.3046	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.89917	.|1.0;0.103;0.981	.|D;B;P	.|0.85130	.|0.997;0.099;0.811	T|T	0.72043|0.72043	-0.4409|-0.4409	5|10	.|0.52906	.|T	.|0.07	-18.2404|-18.2404	18.6228|18.6228	0.91327|0.91327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;134;134	.|A5YM41;O43312;O43312-4	.|.;MTSS1_HUMAN;.	S|L	129|134	.|ENSP00000367256:R134L;ENSP00000429064:R134L;ENSP00000322804:R134L	.|ENSP00000322804:R134L	A|R	-|-	1|2	0|0	MTSS1|MTSS1	125666568|125666568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.061000|7.061000	0.76699|0.76699	2.487000|2.487000	0.83934|0.83934	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.363	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		49	115	1	0	9.87e-16	1.97e-15	49	115				
RFX3	5991	broad.mit.edu	37	9	3263051	3263051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:3263051G>A	ENST00000382004.3	-	14	1800	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.R497*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.R497*	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	497					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R497*(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTATCTTCGCAGAGTCTGG	0.483																																						uc003zhr.2		NA																	2	Substitution - Nonsense(2)		large_intestine(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1489-1491)CGA>TGA		regulatory factor X3 isoform b							154.0	131.0	138.0					9																	3263051		2203	4300	6503	SO:0001587	stop_gained	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263051G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1489C>T	9.37:g.3263051G>A	ENSP00000371434:p.Arg497*					RFX3_uc010mhd.2_Nonsense_Mutation_p.R497*|RFX3_uc003zhs.1_Nonsense_Mutation_p.R497*	p.R497*	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1801	-			497					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Nonsense_Mutation	SNP	ENST00000382004.3	37	c.1489C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	43	10.042788	0.99324	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5406	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	497;497;497;70	.	ENSP00000303847:R497X	R	-	1	2	RFX3	3253051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.937000	0.99478	0.650000	0.86243	CGA		0.483	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		23	98	0	0	0	0	23	98				
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G	rs200803614	byFrequency	TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCATCTGACAGGTCTCTG	0.532													A|||	7	0.00139776	0.0	0.0029	5008	,	,		14909	0.0		0.004	False		,,,				2504	0.001					uc011lrb.1		NA																	0					0						c.(928-930)TGT>TGC		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43627757		300	906	1206	SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43627757A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.930T>C	9.37:g.43627757A>G							p.C310C	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	959	-			310						Silent	SNP	ENST00000332857.6	37	c.930T>C	CCDS47973.1																																																																																				0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		5	409	0	0	0	0	5	409				
BSPRY	54836	broad.mit.edu	37	9	116131934	116131934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:116131934C>T	ENST00000374183.4	+	6	760	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	241	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACAGTCAGCCCCTTCCTGCA	0.577																																						uc004bhg.3		NA																	0				breast(1)	1						c.(721-723)CCC>TCC		B-box and SPRY domain containing							79.0	80.0	80.0					9																	116131934		2019	4198	6217	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116131934C>T	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.721C>T	9.37:g.116131934C>T	ENSP00000363298:p.Pro241Ser					BSPRY_uc010muw.2_3'UTR	p.P241S	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			6	769	+			241			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.721C>T	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665631	0.88251	.	.	ENSG00000119411	ENST00000374183	T	0.13196	2.61	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10337	-1.0634	10	0.44086	T	0.13	-23.7651	18.6077	0.91272	0.0:1.0:0.0:0.0	.	241	Q5W0U4	BSPRY_HUMAN	S	241	ENSP00000363298:P241S	ENSP00000363298:P241S	P	+	1	0	BSPRY	115171755	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.192000	0.77771	2.633000	0.89246	0.561000	0.74099	CCC		0.577	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		14	84	0	0	0	0	14	84				
COL5A1	1289	broad.mit.edu	37	9	137676879	137676879	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:137676879A>C	ENST00000371817.3	+	30	2943	c.2529A>C	c.(2527-2529)gaA>gaC	p.E843D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	843	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGCCCTGAAGGCCCAAAGG	0.622																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2527-2529)GAA>GAC		alpha 1 type V collagen preproprotein							38.0	44.0	42.0					9																	137676879		2203	4299	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137676879A>C	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2529A>C	9.37:g.137676879A>C	ENSP00000360882:p.Glu843Asp						p.E843D	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	30	2911	+		Myeloproliferative disorder(178;0.0341)	843			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2529A>C	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	a	17.84	3.486995	0.63962	.	.	ENSG00000130635	ENST00000371817	D	0.93547	-3.24	4.39	2.04	0.26737	.	0.000000	0.64402	U	0.000001	D	0.90834	0.7121	N	0.10782	0.045	0.45676	D	0.998594	D	0.63046	0.992	D	0.77004	0.989	D	0.88434	0.3037	10	0.72032	D	0.01	.	7.4983	0.27503	0.8138:0.0:0.1862:0.0	.	843	P20908	CO5A1_HUMAN	D	843	ENSP00000360882:E843D	ENSP00000360882:E843D	E	+	3	2	COL5A1	136816700	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	1.580000	0.36547	0.135000	0.18707	0.248000	0.18094	GAA		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		34	29	0	0	0	0	34	29				
SEC16A	9919	broad.mit.edu	37	9	139354513	139354513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:139354513C>T	ENST00000371706.3	-	12	4553	c.4520G>A	c.(4519-4521)cGg>cAg	p.R1507Q	SEC16A_ENST00000290037.6_Missense_Mutation_p.R1507Q|SEC16A_ENST00000313050.7_Missense_Mutation_p.R1685Q|SEC16A_ENST00000431893.2_Missense_Mutation_p.R1507Q			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1507					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAGGCATCCGTCCGGACAT	0.592																																						uc004chx.2		NA																	0					0						c.(5053-5055)CGG>CAG		SEC16 homolog A							35.0	42.0	39.0					9																	139354513		2127	4241	6368	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139354513C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4520G>A	9.37:g.139354513C>T	ENSP00000360771:p.Arg1507Gln					SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.R1075Q|SEC16A_uc004chw.2_Missense_Mutation_p.R1685Q|SEC16A_uc010nbn.2_Missense_Mutation_p.R1685Q	p.R1685Q	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	14	5363	-		Myeloproliferative disorder(178;0.0511)	1507					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.5054G>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197727	0.79015	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.43294	1.89;0.95;1.52;1.89;1.89;1.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.38733	1.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.999	T	0.58629	-0.7603	10	0.72032	D	0.01	-42.3869	18.7199	0.91689	0.0:1.0:0.0:0.0	.	1685;1507;1507;1075	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	Q	1685;79;407;1507;1507;1507;1075	ENSP00000325827:R1685Q;ENSP00000277537:R79Q;ENSP00000403525:R407Q;ENSP00000360771:R1507Q;ENSP00000290037:R1507Q;ENSP00000387583:R1507Q	ENSP00000277537:R79Q	R	-	2	0	SEC16A	138474334	1.000000	0.71417	0.995000	0.50966	0.286000	0.27126	7.592000	0.82676	2.668000	0.90789	0.561000	0.74099	CGG		0.592	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		11	8	0	0	0	0	11	8				
MXRA5	25878	broad.mit.edu	37	X	3241944	3241944	+	Silent	SNP	C	C	T			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:3241944C>T	ENST00000217939.6	-	5	1936	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	594	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAATGTCACCGACTCCCCTG	0.473																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(1780-1782)TCG>TCA		adlican precursor							81.0	62.0	68.0					X																	3241944		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3241944C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1782G>A	X.37:g.3241944C>T							p.S594S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1939	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	594			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1782G>A	CCDS14124.1																																																																																				0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	14	0	0	0	0	5	14				
GUCY2F	2986	broad.mit.edu	37	X	108718934	108718934	+	Silent	SNP	A	A	G			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:108718934A>G	ENST00000218006.2	-	2	523	c.232T>C	c.(232-234)Tta>Cta	p.L78L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	78					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCAATGGCTAATCGCGCAGCA	0.527											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(232-234)TTA>CTA		guanylate cyclase 2F precursor							84.0	79.0	81.0					X																	108718934		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718934A>G	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.232T>C	X.37:g.108718934A>G			OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414	GUCY2F_uc011msq.1_RNA	p.L78L	NM_001522	NP_001513	P51841	GUC2F_HUMAN			2	508	-			78			Extracellular (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.232T>C	CCDS14545.1																																																																																				0.527	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		38	17	0	0	0	0	38	17				
ATP11C	286410	broad.mit.edu	37	X	138832233	138832233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:138832233C>A	ENST00000327569.3	-	24	2886	c.2788G>T	c.(2788-2790)Gaa>Taa	p.E930*	ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E930*|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.E924*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E930*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E930*	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	930					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATGTGCTGTTCCAGTAGACTA	0.393																																						uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(2788-2790)GAA>TAA		ATPase, class VI, type 11C isoform a							212.0	179.0	190.0					X																	138832233		2203	4300	6503	SO:0001587	stop_gained	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138832233C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2788G>T	X.37:g.138832233C>A	ENSP00000332756:p.Glu930*					ATP11C_uc004fax.2_Nonsense_Mutation_p.E138*|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Nonsense_Mutation_p.E930*	p.E930*	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			24	2887	-	Acute lymphoblastic leukemia(192;0.000127)		930			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	c.2788G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	42	9.472780	0.99181	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1289	0.89595	0.0:1.0:0.0:0.0	.	.	.	.	X	924;930;930;930;930	.	ENSP00000332756:E930X	E	-	1	0	ATP11C	138659899	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.487000	0.81328	2.504000	0.84457	0.600000	0.82982	GAA		0.393	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		5	59	1	0	1.24e-05	2.22e-05	5	59				
ARHGAP4	393	broad.mit.edu	37	X	153186904	153186904	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:153186904T>A	ENST00000350060.5	-	3	390	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.S94C|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.S117C|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.S117C|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.S117C	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	117					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCGCGCTCTCCCGGCTC	0.692																																						uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(349-351)AGC>TGC		Rho GTPase activating protein 4 isoform 2							11.0	11.0	11.0					X																	153186904		2053	4021	6074	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186904T>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.349A>T	X.37:g.153186904T>A	ENSP00000203786:p.Ser117Cys					ARHGAP4_uc011mzf.1_Missense_Mutation_p.S94C|ARHGAP4_uc004fjl.1_Missense_Mutation_p.S117C|ARHGAP4_uc010nup.1_RNA	p.S117C	NM_001666	NP_001657	P98171	RHG04_HUMAN			3	391	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		117					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.349A>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292776	0.60086	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.8	3.53	0.40419	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.53938	D	0.000046	T	0.23094	0.0558	N	0.22421	0.69	0.35078	D	0.763161	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	T	0.23332	-1.0191	10	0.72032	D	0.01	.	8.6719	0.34156	0.0:0.0:0.404:0.596	.	117;117	Q86UY3;P98171	.;RHG04_HUMAN	C	117;117;117;117;94;94;94	ENSP00000377322:S117C;ENSP00000359045:S117C;ENSP00000203786:S117C;ENSP00000359033:S117C;ENSP00000444169:S94C;ENSP00000398259:S94C;ENSP00000413782:S94C	ENSP00000203786:S117C	S	-	1	0	ARHGAP4	152840098	1.000000	0.71417	0.042000	0.18584	0.281000	0.26958	4.519000	0.60517	1.860000	0.53959	0.430000	0.28490	AGC		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		7	7	0	0	0	0	7	7				
TRIM51	84767	broad.mit.edu	37	11	55658941	55658943	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:55658941_55658943delGTG	ENST00000449290.2	+	7	1284_1286	c.1192_1194delGTG	c.(1192-1194)gtgdel	p.V399del	TRIM51_ENST00000244891.3_In_Frame_Del_p.V256del	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CTCCCCACTTGTGGTGCAATATG	0.448																																						uc010rip.1		NA																	0					0						c.(1192-1194)GTGdel		SPRY domain containing 5																																				SO:0001651	inframe_deletion	84767					intracellular	zinc ion binding	g.chr11:55658941_55658943delGTG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1192_1194delGTG	11.37:g.55658944_55658946delGTG	ENSP00000395086:p.Val399del					SPRYD5_uc010riq.1_In_Frame_Del_p.V256del	p.V399del	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1284_1286	+		all_epithelial(135;0.226)	399			B30.2/SPRY.		A6NMG2	In_Frame_Del	DEL	ENST00000449290.2	37	c.1192_1194delGTG																																																																																					0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		19	63	NA	NA	NA	NA	19	63	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444269	49444276	+	Frame_Shift_Del	DEL	GGGAACCA	GGGAACCA	-			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:49444269_49444276delGGGAACCA	ENST00000301067.7	-	11	3094_3101	c.3095_3102delTGGTTCCC	c.(3094-3102)ctggttcccfs	p.LVP1032fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1032	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGAGTTTTGGGGAACCAGGGAATGCTG	0.611																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3094-3102)CTGGTTCCCfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444269_49444276delGGGAACCA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3095_3102delTGGTTCCC	12.37:g.49444269_49444276delGGGAACCA	ENSP00000301067:p.Leu1032fs	HNSCC(34;0.089)					p.L1032fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3095_3102	-			1032_1034			Pro-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.3095_3102delTGGTTCCC	CCDS44873.1																																																																																				0.611	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	45	NA	NA	NA	NA	9	45	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578241	7578241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:7578241delA	ENST00000269305.4	-	6	797	c.608delT	c.(607-609)gtgfs	p.V203fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V203E(6)|p.?(5)|p.N200fs*4(1)|p.V203A(1)|p.E204fs*5(1)|p.V203_E204>LV(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAATACTCCACACGCAAATT	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		24	Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	p.0?(7)|p.V203E(6)|p.V203L(3)|p.V203fs*44(3)|p.V203V(3)|p.V203fs*6(2)|p.V203M(2)|p.K164_P219del(1)|p.N200fs*4(1)|p.V203A(1)|p.E204fs*5(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.G199fs*42(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|upper_aerodigestive_tract(1)|stomach(1)|breast(1)|lung(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(607-609)GTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							131.0	116.0	121.0					17																	7578241		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578241delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.608delT	17.37:g.7578241delA	ENSP00000269305:p.Val203fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.V203fs|TP53_uc002gih.2_Frame_Shift_Del_p.V203fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V71fs|TP53_uc010cng.1_Frame_Shift_Del_p.V71fs|TP53_uc002gii.1_Frame_Shift_Del_p.V71fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V203fs|TP53_uc010cni.1_Frame_Shift_Del_p.V203fs|TP53_uc002gij.2_Frame_Shift_Del_p.V203fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.V110fs|TP53_uc002gio.2_Frame_Shift_Del_p.V71fs|TP53_uc010vug.1_Frame_Shift_Del_p.V164fs	p.V203fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	802	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	203		VE -> LV (in a sporadic cancer; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.608delT	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	17	NA	NA	NA	NA	36	17	---	---	---	---
