#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
ANGPTL7	10218	broad.mit.edu	37	1	11249656	11249656	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:11249656C>G	ENST00000376819.3	+	1	259	c.20C>G	c.(19-21)tCa>tGa	p.S7*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	7					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCTCTCTCAGCTGTGACC	0.557																																						uc001ase.2		NA																	0					0						c.(19-21)TCA>TGA		angiopoietin-like 7 precursor							76.0	81.0	79.0					1																	11249656		2203	4300	6503	SO:0001587	stop_gained	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249656C>G	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.20C>G	1.37:g.11249656C>G	ENSP00000366015:p.Ser7*					MTOR_uc001asd.2_Intron	p.S7*	NM_021146	NP_066969	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	259	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	7					B2R9B2|F1T0A6|Q4ZGK4	Nonsense_Mutation	SNP	ENST00000376819.3	37	c.20C>G	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629235	0.96671	.	.	ENSG00000171819	ENST00000376819	.	.	.	5.13	4.16	0.48862	.	2.241280	0.01898	N	0.038993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.5998	0.76616	0.0:0.8503:0.1497:0.0	.	.	.	.	X	7	.	ENSP00000366015:S7X	S	+	2	0	ANGPTL7	11172243	0.000000	0.05858	0.761000	0.31378	0.978000	0.69477	-0.234000	0.09028	2.367000	0.80283	0.655000	0.94253	TCA		0.557	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		18	138	0	0	0	0	18	138				
VPS13D	55187	broad.mit.edu	37	1	12337106	12337106	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:12337106G>A	ENST00000358136.3	+	19	3591	c.3461G>A	c.(3460-3462)gGa>gAa	p.G1154E	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1154E	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGAACAAGGAACTTACCAG	0.393																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(3460-3462)GGA>GAA		vacuolar protein sorting 13D isoform 1							72.0	70.0	71.0					1																	12337106		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337106G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3461G>A	1.37:g.12337106G>A	ENSP00000350854:p.Gly1154Glu					VPS13D_uc001atw.2_Missense_Mutation_p.G1154E|VPS13D_uc001atx.2_Missense_Mutation_p.G342E	p.G1154E	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3602	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1154						Missense_Mutation	SNP	ENST00000358136.3	37	c.3461G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	0.142	-1.101619	0.01828	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.42900	0.96;0.96	6.17	3.0	0.34707	.	0.293669	0.36740	N	0.002422	T	0.12347	0.0300	N	0.02011	-0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.21042	-1.0257	10	0.02654	T	1	.	5.3131	0.15841	0.5027:0.0:0.4973:0.0	.	1154;1154	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	1154	ENSP00000348666:G1154E;ENSP00000350854:G1154E	ENSP00000348666:G1154E	G	+	2	0	VPS13D	12259693	1.000000	0.71417	0.821000	0.32701	0.712000	0.41017	4.999000	0.63934	0.945000	0.37605	-0.150000	0.13652	GGA		0.393	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	84	0	0	0	0	5	84				
PADI3	51702	broad.mit.edu	37	1	17609457	17609457	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:17609457C>G	ENST00000375460.3	+	16	1918	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	626					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCTGGGCCTCCACTGCACCT	0.587																																						uc001bai.2		NA																	0				ovary(1)|breast(1)	2						c.(1876-1878)CTC>CTG		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						101.0	83.0	89.0					1																	17609457		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17609457C>G	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1878C>G	1.37:g.17609457C>G							p.L626L	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	16	1918	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	626					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.1878C>G	CCDS179.1																																																																																				0.587	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			7	54	0	0	0	0	7	54				
NFYC	4802	broad.mit.edu	37	1	41235027	41235027	+	Splice_Site	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:41235027G>A	ENST00000308733.5	+	9	891		c.e9-1		NFYC_ENST00000425457.2_Splice_Site|NFYC_ENST00000372653.1_Splice_Site|NFYC_ENST00000447388.3_Splice_Site|NFYC_ENST00000372652.1_Splice_Site|NFYC_ENST00000372654.1_Splice_Site|NFYC_ENST00000372651.1_Splice_Site|NFYC_ENST00000427410.2_Splice_Site|NFYC_ENST00000440226.3_Splice_Site|NFYC_ENST00000456393.2_Splice_Site			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATTCTTACAGATTACACAGA	0.507																																						uc001cge.2		NA																	0				breast(2)|kidney(1)	3						c.e9-1		nuclear transcription factor Y, gamma isoform 1							130.0	118.0	122.0					1																	41235027		2203	4300	6503	SO:0001630	splice_region_variant	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41235027G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.886-1G>A	1.37:g.41235027G>A						NFYC_uc001cfx.3_Splice_Site_p.I296_splice|NFYC_uc009vwd.2_Splice_Site_p.I277_splice|NFYC_uc001cfz.2_Splice_Site_p.I277_splice|NFYC_uc010ojn.1_Splice_Site_p.I239_splice|NFYC_uc001cfy.3_Splice_Site_p.I277_splice|NFYC_uc001cgc.2_Splice_Site_p.I243_splice|NFYC_uc001cgb.2_Splice_Site_p.I277_splice|NFYC_uc001cgd.3_Splice_Site_p.I277_splice	p.I296_splice	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		9	894	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Splice_Site	SNP	ENST00000308733.5	37	c.886_splice		.	.	.	.	.	.	.	.	.	.	G	21.8	4.207963	0.79240	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9016	0.86115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFYC	41007614	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.170000	0.94795	2.586000	0.87340	0.655000	0.94253	.		0.507	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223	Intron	9	93	0	0	0	0	9	93				
KDM4A	9682	broad.mit.edu	37	1	44137205	44137205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:44137205G>A	ENST00000372396.3	+	11	1527	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	465					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGTCAAATTTGAAGAGCTTAA	0.458																																						uc001cjx.2		NA																	0				skin(1)	1						c.(1393-1395)GAA>AAA		jumonji domain containing 2A							78.0	78.0	78.0					1																	44137205		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44137205G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1393G>A	1.37:g.44137205G>A	ENSP00000361473:p.Glu465Lys					KDM4A_uc010oki.1_Intron	p.E465K	NM_014663	NP_055478	O75164	KDM4A_HUMAN			11	1559	+			465					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1393G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728528	0.89390	.	.	ENSG00000066135	ENST00000372396	T	0.16073	2.37	5.49	5.49	0.81192	.	0.267070	0.42053	D	0.000768	T	0.33527	0.0866	L	0.50333	1.59	0.48288	D	0.999623	D	0.63880	0.993	D	0.70935	0.971	T	0.02053	-1.1222	10	0.10111	T	0.7	-19.8228	17.9234	0.88975	0.0:0.0:1.0:0.0	.	465	O75164	KDM4A_HUMAN	K	465	ENSP00000361473:E465K	ENSP00000361473:E465K	E	+	1	0	KDM4A	43909792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.795000	0.62489	2.733000	0.93635	0.655000	0.94253	GAA		0.458	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		13	110	0	0	0	0	13	110				
RPS8	6202	broad.mit.edu	37	1	45243773	45243773	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:45243773G>A	ENST00000396651.3	+	5	649	c.489G>A	c.(487-489)gaG>gaA	p.E163E	SNORD55_ENST00000581525.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000485390.1_3'UTR|SNORD38A_ENST00000365161.1_RNA|RPS8_ENST00000372209.3_Silent_p.E143E|SNORD38B_ENST00000384690.1_RNA|SNORD46_ENST00000364043.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	163					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTCCTGGAGGAGCAGTTCC	0.448																																						uc001cmi.2		NA																	0				ovary(1)	1						c.(487-489)GAG>GAA		ribosomal protein S8							12.0	11.0	12.0					1																	45243773		2199	4283	6482	SO:0001819	synonymous_variant	6202				endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr1:45243773G>A	BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.489G>A	1.37:g.45243773G>A						SNORD38B_uc001cml.2_5'Flank	p.E163E	NM_001012	NP_001003	P62241	RS8_HUMAN			5	512	+	Acute lymphoblastic leukemia(166;0.155)		163					P09058|Q6IRL7	Silent	SNP	ENST00000396651.3	37	c.489G>A	CCDS513.1																																																																																				0.448	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1	NM_001012		3	12	0	0	0	0	3	12				
DNAJC6	9829	broad.mit.edu	37	1	65858191	65858191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:65858191G>T	ENST00000395325.3	+	12	1532	c.1375G>T	c.(1375-1377)Gaa>Taa	p.E459*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E516*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E446*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	459					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAGATGATGAACTTCTGAC	0.512																																						uc001dcd.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1375-1377)GAA>TAA		DnaJ (Hsp40) homolog, subfamily C, member 6							64.0	59.0	61.0					1																	65858191		2203	4300	6503	SO:0001587	stop_gained	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65858191G>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1375G>T	1.37:g.65858191G>T	ENSP00000378735:p.Glu459*					DNAJC6_uc001dcc.1_Nonsense_Mutation_p.E490*|DNAJC6_uc010opc.1_Nonsense_Mutation_p.E446*|DNAJC6_uc001dce.1_Nonsense_Mutation_p.E516*	p.E459*	NM_014787	NP_055602	O75061	AUXI_HUMAN			12	1539	+			459					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	SNP	ENST00000395325.3	37	c.1375G>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	38	7.083096	0.98051	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	446;459;516	.	ENSP00000263441:E446X	E	+	1	0	DNAJC6	65630779	1.000000	0.71417	0.855000	0.33649	0.386000	0.30323	8.975000	0.93437	2.941000	0.99782	0.655000	0.94253	GAA		0.512	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			11	25	1	0	1.62e-10	1.76e-10	11	25				
ODF2L	57489	broad.mit.edu	37	1	86852635	86852635	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:86852635C>G	ENST00000359242.3	-	2	357	c.76G>C	c.(76-78)Gat>Cat	p.D26H	ODF2L_ENST00000478286.2_Missense_Mutation_p.D26H|ODF2L_ENST00000370566.3_Missense_Mutation_p.D26H|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000317336.7_Missense_Mutation_p.D26H|ODF2L_ENST00000370567.1_Missense_Mutation_p.D26H|ODF2L_ENST00000486215.1_Missense_Mutation_p.D26H|ODF2L_ENST00000294678.2_Missense_Mutation_p.D26H	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	26						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CGTGGTAAATCTTCTTTCTCT	0.358																																						uc001dll.1		NA																	0				ovary(1)	1						c.(76-78)GAT>CAT		outer dense fiber of sperm tails 2-like isoform							118.0	126.0	123.0					1																	86852635		2203	4300	6503	SO:0001583	missense	57489					centrosome		g.chr1:86852635C>G		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.76G>C	1.37:g.86852635C>G	ENSP00000359600:p.Asp26His					ODF2L_uc001dlm.1_Missense_Mutation_p.D26H|ODF2L_uc001dln.2_Missense_Mutation_p.D26H|ODF2L_uc001dlo.2_5'UTR|ODF2L_uc001dlp.2_Missense_Mutation_p.D26H|ODF2L_uc010osg.1_Missense_Mutation_p.D26H|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron	p.D26H	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	2	416	-			26					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.76G>C	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	C	9.626	1.135137	0.21123	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959;ENST00000478286;ENST00000486215	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.02;2.02	5.04	-0.486	0.12064	.	1.413730	0.04306	N	0.348158	T	0.01387	0.0045	N	0.00436	-1.5	0.09310	N	0.999998	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.37776	-0.9691	10	0.17369	T	0.5	8.2229	7.5969	0.28054	0.1763:0.5069:0.3168:0.0	.	26;26;26;26;26	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	H	26	ENSP00000359597:D26H;ENSP00000359600:D26H;ENSP00000320165:D26H;ENSP00000359598:D26H;ENSP00000294678:D26H	ENSP00000294678:D26H	D	-	1	0	ODF2L	86625223	0.108000	0.22018	0.002000	0.10522	0.072000	0.16883	0.283000	0.18846	-0.269000	0.09298	0.557000	0.71058	GAT		0.358	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			7	68	0	0	0	0	7	68				
DNTTIP2	30836	broad.mit.edu	37	1	94342038	94342038	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:94342038C>T	ENST00000436063.2	-	2	1510	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AATGCATTGTCACATGACAGA	0.393																																						uc001dqf.2		NA																	0					0						c.(1453-1455)GAC>AAC		deoxynucleotidyltransferase, terminal,							99.0	93.0	95.0					1																	94342038		1958	4161	6119	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342038C>T	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1453G>A	1.37:g.94342038C>T	ENSP00000411010:p.Asp485Asn					DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D280N	p.D485N	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1491	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	485					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.1453G>A	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	2.301	-0.360209	0.05103	.	.	ENSG00000067334	ENST00000436063	T	0.15952	2.38	5.04	1.97	0.26223	.	1.240230	0.05433	N	0.546220	T	0.05135	0.0137	M	0.62723	1.935	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.42050	-0.9474	10	0.09590	T	0.72	.	6.057	0.19816	0.0:0.5467:0.1832:0.2701	.	485	Q5QJE6	TDIF2_HUMAN	N	485	ENSP00000411010:D485N	ENSP00000352137:D485N	D	-	1	0	DNTTIP2	94114626	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	1.040000	0.30278	0.719000	0.32188	0.655000	0.94253	GAC		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		23	41	0	0	0	0	23	41				
GNAT2	2780	broad.mit.edu	37	1	110151357	110151357	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:110151357C>T	ENST00000351050.3	-	4	543	c.357G>A	c.(355-357)atG>atA	p.M119I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	119					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTCAGGAGGCATGGTTCCCT	0.517																																						uc001dya.2		NA																	0					0						c.(355-357)ATG>ATA		guanine nucleotide binding protein, alpha							140.0	108.0	119.0					1																	110151357		2203	4300	6503	SO:0001583	missense	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110151357C>T	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.357G>A	1.37:g.110151357C>T	ENSP00000251337:p.Met119Ile						p.M119I	NM_005272	NP_005263	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	4	570	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	119						Missense_Mutation	SNP	ENST00000351050.3	37	c.357G>A	CCDS803.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741979	0.89573	.	.	ENSG00000134183	ENST00000351050	D	0.87491	-2.26	4.69	4.69	0.59074	G protein alpha subunit, helical insertion (2);	0.085531	0.85682	D	0.000000	D	0.83737	0.5319	N	0.20986	0.625	0.80722	D	1	P	0.48016	0.904	P	0.54140	0.743	D	0.86575	0.1850	10	0.66056	D	0.02	.	17.7737	0.88501	0.0:1.0:0.0:0.0	.	119	P19087	GNAT2_HUMAN	I	119	ENSP00000251337:M119I	ENSP00000251337:M119I	M	-	3	0	GNAT2	109952880	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.795000	0.69074	2.600000	0.87896	0.655000	0.94253	ATG		0.517	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		21	49	0	0	0	0	21	49				
SLC16A4	9122	broad.mit.edu	37	1	110921808	110921808	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:110921808C>T	ENST00000369779.4	-	6	946	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000541986.1_Missense_Mutation_p.E171K|SLC16A4_ENST00000437429.2_Missense_Mutation_p.E123K|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.E185K	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	233					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GTAGACTCTTCTGTCTCATGG	0.423																																						uc001dzo.1		NA																	0				ovary(3)	3						c.(697-699)GAA>AAA		solute carrier family 16, member 4	Pyruvic acid(DB00119)						229.0	212.0	218.0					1																	110921808		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921808C>T	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.697G>A	1.37:g.110921808C>T	ENSP00000358794:p.Glu233Lys					SLC16A4_uc009wfs.1_Missense_Mutation_p.E185K|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Missense_Mutation_p.E171K|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Missense_Mutation_p.E123K	p.E233K	NM_004696	NP_004687	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	879	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	233			Cytoplasmic (Potential).		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.697G>A	CCDS823.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031286	0.35797	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986	T;T;T;T	0.23754	2.49;2.33;1.89;2.47	5.42	3.53	0.40419	Major facilitator superfamily domain, general substrate transporter (1);	6.905420	0.00166	N	0.000000	T	0.02267	0.0070	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.20164	0.014;0.003;0.014;0.042	B;B;B;B	0.22386	0.034;0.009;0.039;0.038	T	0.39603	-0.9606	10	0.07990	T	0.79	.	5.4646	0.16635	0.0766:0.1434:0.6364:0.1436	.	123;171;185;233	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	K	233;185;123;171	ENSP00000358794:E233K;ENSP00000432495:E185K;ENSP00000394790:E123K;ENSP00000446087:E171K	ENSP00000358794:E233K	E	-	1	0	SLC16A4	110723331	0.257000	0.24022	0.006000	0.13384	0.393000	0.30537	0.942000	0.29017	0.657000	0.30906	-0.152000	0.13540	GAA		0.423	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		39	90	0	0	0	0	39	90				
CA14	23632	broad.mit.edu	37	1	150235226	150235226	+	Silent	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:150235226T>G	ENST00000369111.4	+	6	1489	c.519T>G	c.(517-519)gcT>gcG	p.A173A	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	173					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AGAATATAGCTTATGAACACA	0.363																																						uc001etx.2		NA																	0				ovary(1)	1						c.(517-519)GCT>GCG		carbonic anhydrase XIV precursor							110.0	115.0	113.0					1																	150235226		2203	4300	6503	SO:0001819	synonymous_variant	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150235226T>G	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.519T>G	1.37:g.150235226T>G							p.A173A	NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	828	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		173			Extracellular (Potential).		Q5TB24|Q8NCF4	Silent	SNP	ENST00000369111.4	37	c.519T>G	CCDS947.1																																																																																				0.363	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		55	91	0	0	0	0	55	91				
C1orf56	54964	broad.mit.edu	37	1	151021004	151021004	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:151021004C>A	ENST00000368926.5	+	1	789	c.681C>A	c.(679-681)caC>caA	p.H227Q		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	227						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGCTGCACGGCCTTTCCG	0.652											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	uc001ewn.2		NA																	0					0						c.(679-681)CAC>CAA		hypothetical protein LOC54964 precursor							61.0	69.0	66.0					1																	151021004		2203	4300	6503	SO:0001583	missense	54964					extracellular region		g.chr1:151021004C>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.681C>A	1.37:g.151021004C>A	ENSP00000357922:p.His227Gln		OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.H227Q	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	746	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		227					B2RDU8|Q9NWZ4	Missense_Mutation	SNP	ENST00000368926.5	37	c.681C>A	CCDS980.1	.	.	.	.	.	.	.	.	.	.	C	3.731	-0.055520	0.07362	.	.	ENSG00000143443	ENST00000368926	.	.	.	5.23	-9.09	0.00717	.	1.015690	0.07898	N	0.972114	T	0.07052	0.0179	L	0.29908	0.895	0.09310	N	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.11916	-1.0568	9	0.34782	T	0.22	-1.5706	2.0439	0.03556	0.1653:0.351:0.2537:0.23	.	227	Q9BUN1	CA056_HUMAN	Q	227	.	ENSP00000357922:H227Q	H	+	3	2	C1orf56	149287628	0.000000	0.05858	0.286000	0.24833	0.231000	0.25187	-3.396000	0.00485	-2.223000	0.00726	-1.164000	0.01763	CAC		0.652	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		23	83	1	0	4.16e-05	4.41e-05	23	83				
FLG2	388698	broad.mit.edu	37	1	152324824	152324824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:152324824G>A	ENST00000388718.5	-	3	5510	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1813					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAACCCTGAGTGCCCTTC	0.537																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5437-5439)TCA>TTA		filaggrin family member 2							311.0	272.0	285.0					1																	152324824		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324824G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5438C>T	1.37:g.152324824G>A	ENSP00000373370:p.Ser1813Leu					uc001ezv.2_Intron	p.S1813L	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1813					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5438C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157445	0.38119	.	.	ENSG00000143520	ENST00000388718	T	0.37235	1.21	3.77	1.73	0.24493	.	.	.	.	.	T	0.25457	0.0619	M	0.66297	2.02	0.09310	N	1	D	0.58268	0.982	P	0.50192	0.634	T	0.06232	-1.0838	9	0.62326	D	0.03	-3.6491	6.4254	0.21766	0.0:0.2036:0.5863:0.2101	.	1813	Q5D862	FILA2_HUMAN	L	1813	ENSP00000373370:S1813L	ENSP00000373370:S1813L	S	-	2	0	FLG2	150591448	0.060000	0.20803	0.002000	0.10522	0.195000	0.23768	2.808000	0.47963	0.353000	0.24079	0.297000	0.19635	TCA		0.537	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		61	149	0	0	0	0	61	149				
ADAMTS4	9507	broad.mit.edu	37	1	161166083	161166083	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:161166083C>A	ENST00000367996.5	-	3	1396	c.968G>T	c.(967-969)gGa>gTa	p.G323V	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	323	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AGTGGAGACTCCACACAGGTC	0.597																																						uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(967-969)GGA>GTA		ADAM metallopeptidase with thrombospondin type 1							94.0	86.0	89.0					1																	161166083		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166083C>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.968G>T	1.37:g.161166083C>A	ENSP00000356975:p.Gly323Val					ADAMTS4_uc001fyu.2_3'UTR	p.G323V	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	1396	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		323			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.968G>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720586	0.89205	.	.	ENSG00000158859	ENST00000367996	T	0.67171	-0.25	5.23	5.23	0.72850	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.089324	0.47093	D	0.000250	T	0.61337	0.2339	L	0.54323	1.7	0.80722	D	1	P	0.46395	0.877	P	0.45660	0.489	T	0.67597	-0.5630	10	0.72032	D	0.01	.	17.7164	0.88338	0.0:1.0:0.0:0.0	.	323	O75173	ATS4_HUMAN	V	323	ENSP00000356975:G323V	ENSP00000356975:G323V	G	-	2	0	ADAMTS4	159432707	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.651000	0.83577	2.727000	0.93392	0.491000	0.48974	GGA		0.597	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		12	59	1	0	3.07e-06	3.27e-06	12	59				
DDR2	4921	broad.mit.edu	37	1	162749994	162749994	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:162749994C>G	ENST00000367922.3	+	19	2964	c.2526C>G	c.(2524-2526)ttC>ttG	p.F842L	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.F842L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GTCCCTCATTCCAAGAAATCC	0.522																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(2524-2526)TTC>TTG		discoidin domain receptor family, member 2							174.0	156.0	162.0					1																	162749994		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749994C>G	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2526C>G	1.37:g.162749994C>G	ENSP00000356899:p.Phe842Leu					DDR2_uc001gcg.2_Missense_Mutation_p.F842L|uc001gch.1_5'Flank	p.F842L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2991	+	all_hematologic(112;0.115)		842			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2526C>G	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326164	0.81580	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.87103	-2.21;-2.21	5.66	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.93375	3.41	0.40839	D	0.983654	D	0.89917	1.0	D	0.97110	1.0	D	0.94389	0.7612	9	0.72032	D	0.01	.	9.5562	0.39339	0.0:0.84:0.0:0.16	.	842	Q16832	DDR2_HUMAN	L	842	ENSP00000356899:F842L;ENSP00000356898:F842L	ENSP00000356898:F842L	F	+	3	2	DDR2	161016618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.000000	0.29770	1.395000	0.46643	0.650000	0.86243	TTC		0.522	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		8	98	0	0	0	0	8	98				
CFH	3075	broad.mit.edu	37	1	196658599	196658599	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:196658599G>A	ENST00000359637.2	+	7	884	c.822G>A	c.(820-822)gaG>gaA	p.E274E	CFH_ENST00000367429.4_Silent_p.E338E|CFH_ENST00000439155.2_Silent_p.E338E			P08603	CFAH_HUMAN	complement factor H	338	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATATCATGAGAATATGCGTA	0.323																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(1012-1014)GAG>GAA		complement factor H isoform a precursor							88.0	84.0	85.0					1																	196658599		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658599G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.822G>A	1.37:g.196658599G>A						CFH_uc001gti.3_Silent_p.E338E|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Silent_p.E274E	p.E338E	NM_000186	NP_000177	P08603	CFAH_HUMAN			8	1254	+			338			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37	c.1014G>A																																																																																					0.323	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		12	62	0	0	0	0	12	62				
ATP6V1G3	127124	broad.mit.edu	37	1	198509756	198509756	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:198509756G>A	ENST00000367382.1	-	1	109	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.H9Y			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	9					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						AGAAGCTGGTGGATCCCCTGA	0.458																																						uc001gup.2		NA																	0				central_nervous_system(1)	1						c.(25-27)CAC>TAC		ATPase, H+ transporting, lysosomal, V1 subunit							195.0	175.0	182.0					1																	198509756		2203	4300	6503	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198509756G>A	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.25C>T	1.37:g.198509756G>A	ENSP00000356352:p.His9Tyr					ATP6V1G3_uc009wzd.2_Missense_Mutation_p.H9Y|ATP6V1G3_uc001guo.2_Missense_Mutation_p.H9Y	p.H9Y	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN			2	131	-			9			Potential.		Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.25C>T	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104535	0.56291	.	.	ENSG00000151418	ENST00000367382;ENST00000309309;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.94	5.94	0.96194	.	0.252655	0.47455	D	0.000228	T	0.55417	0.1919	L	0.54323	1.7	0.28520	N	0.913136	P;P;D	0.58620	0.779;0.712;0.983	B;B;P	0.55303	0.275;0.285;0.773	T	0.54886	-0.8226	10	0.87932	D	0	-14.8034	17.8461	0.88730	0.0:0.0:1.0:0.0	.	9;9;9	Q96LB4-4;Q96LB4;Q96LB4-3	.;VATG3_HUMAN;.	Y	9	ENSP00000356352:H9Y;ENSP00000309574:H9Y;ENSP00000356351:H9Y;ENSP00000281087:H9Y;ENSP00000417171:H9Y	ENSP00000281087:H9Y	H	-	1	0	ATP6V1G3	196776379	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	4.828000	0.62730	2.821000	0.97095	0.484000	0.47621	CAC		0.458	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		43	70	0	0	0	0	43	70				
KIF14	9928	broad.mit.edu	37	1	200549426	200549426	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:200549426C>G	ENST00000367350.4	-	21	3859	c.3421G>C	c.(3421-3423)Gaa>Caa	p.E1141Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1141	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCAAACTTTTCCAGACTCCAG	0.279																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(3421-3423)GAA>CAA		kinesin family member 14							32.0	31.0	31.0					1																	200549426		2197	4294	6491	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200549426C>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3421G>C	1.37:g.200549426C>G	ENSP00000356319:p.Glu1141Gln					KIF14_uc010ppj.1_Missense_Mutation_p.E650Q	p.E1141Q	NM_014875	NP_055690	Q15058	KIF14_HUMAN			21	3860	-			1141			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3421G>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708185	0.68615	.	.	ENSG00000118193	ENST00000367350	T	0.17528	2.27	5.03	5.03	0.67393	.	0.133465	0.49916	D	0.000124	T	0.43523	0.1251	M	0.74258	2.255	0.51767	D	0.99993	D	0.76494	0.999	D	0.69654	0.965	T	0.43147	-0.9409	10	0.66056	D	0.02	.	18.351	0.90338	0.0:1.0:0.0:0.0	.	1141	Q15058	KIF14_HUMAN	Q	1141	ENSP00000356319:E1141Q	ENSP00000356319:E1141Q	E	-	1	0	KIF14	198816049	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.277000	0.78572	2.331000	0.79229	0.591000	0.81541	GAA		0.279	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		6	16	0	0	0	0	6	16				
LMOD1	25802	broad.mit.edu	37	1	201868676	201868676	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:201868676T>G	ENST00000367288.4	-	2	1711	c.1465A>C	c.(1465-1467)Aag>Cag	p.K489Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	489					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTCTCCCTTGGCTTCCTGT	0.592																																						uc001gxb.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1465-1467)AAG>CAG		leiomodin 1 (smooth muscle)							44.0	46.0	45.0					1																	201868676		2014	4154	6168	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868676T>G	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1465A>C	1.37:g.201868676T>G	ENSP00000356257:p.Lys489Gln					LMOD1_uc010ppu.1_Missense_Mutation_p.K438Q	p.K489Q	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	1713	-			489					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1465A>C	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	T	3.800	-0.041883	0.07452	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.21543	2.0	4.52	-5.33	0.02713	.	1.393630	0.04893	N	0.449983	T	0.05273	0.0140	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27571	-1.0070	10	0.17369	T	0.5	-3.2119	2.5037	0.04639	0.1388:0.3827:0.3009:0.1776	.	438;489	B4E3S9;P29536	.;LMOD1_HUMAN	Q	489;489;438	ENSP00000356257:K489Q	ENSP00000356257:K489Q	K	-	1	0	LMOD1	200135299	0.000000	0.05858	0.112000	0.21494	0.565000	0.35776	-0.634000	0.05477	-0.858000	0.04110	-0.290000	0.09829	AAG		0.592	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			11	16	0	0	0	0	11	16				
C4BPA	722	broad.mit.edu	37	1	207286390	207286390	+	Missense_Mutation	SNP	C	C	T	rs374378424		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:207286390C>T	ENST00000367070.3	+	2	214	c.20C>T	c.(19-21)cCa>cTa	p.P7L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	7					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCAAAAACTCCATCTGGGGCT	0.443																																						uc001hfo.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(19-21)CCA>CTA		complement component 4 binding protein, alpha							59.0	63.0	61.0					1																	207286390		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207286390C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.20C>T	1.37:g.207286390C>T	ENSP00000356037:p.Pro7Leu						p.P7L	NM_000715	NP_000706	P04003	C4BPA_HUMAN			2	214	+			7					Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.20C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634866	0.29068	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.29142	1.58;1.92	4.88	2.95	0.34219	.	0.783381	0.11225	N	0.586279	T	0.29620	0.0739	M	0.68317	2.08	0.09310	N	1	B	0.26775	0.159	B	0.22386	0.039	T	0.21724	-1.0237	10	0.39692	T	0.17	.	6.661	0.23014	0.0:0.7225:0.1807:0.0968	.	7	P04003	C4BPA_HUMAN	L	7	ENSP00000356037:P7L;ENSP00000403386:P7L	ENSP00000356037:P7L	P	+	2	0	C4BPA	205353013	0.037000	0.19845	0.070000	0.20053	0.022000	0.10575	0.630000	0.24553	0.733000	0.32492	0.563000	0.77884	CCA		0.443	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			16	32	0	0	0	0	16	32				
MTR	4548	broad.mit.edu	37	1	236995364	236995364	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:236995364G>T	ENST00000366577.5	+	13	1568	c.1174G>T	c.(1174-1176)Gca>Tca	p.A392S	MTR_ENST00000535889.1_Missense_Mutation_p.A392S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	392	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTCATCATGGCAGGAAACTA	0.448																																						uc001hyi.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1174-1176)GCA>TCA		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						101.0	88.0	92.0					1																	236995364		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236995364G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1174G>T	1.37:g.236995364G>T	ENSP00000355536:p.Ala392Ser					MTR_uc010pxw.1_Intron|MTR_uc010pxx.1_Missense_Mutation_p.A392S|MTR_uc010pxy.1_Missense_Mutation_p.A392S	p.A392S	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	13	1597	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	392			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.1174G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744217	0.49151	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	D;D	0.83591	-1.74;-1.74	5.29	4.38	0.52667	Dihydropteroate synthase-like (1);Pterin-binding (3);Homocysteine S-methyltransferase (1);	0.194198	0.43579	D	0.000542	T	0.75803	0.3899	L	0.43923	1.385	0.34699	D	0.726587	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.15870	0.008;0.014;0.008	T	0.77305	-0.2637	10	0.52906	T	0.07	-6.5235	9.2453	0.37523	0.0727:0.0:0.784:0.1433	.	392;392;392	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	S	392	ENSP00000355536:A392S;ENSP00000441845:A392S	ENSP00000355536:A392S	A	+	1	0	MTR	235061987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.999000	0.40806	1.482000	0.48325	0.655000	0.94253	GCA		0.448	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	48	1	0	2.01e-06	2.15e-06	6	48				
EXO1	9156	broad.mit.edu	37	1	242045251	242045251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:242045251C>T	ENST00000366548.3	+	14	2736	c.2143C>T	c.(2143-2145)Caa>Taa	p.Q715*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.Q715*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.Q715*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	715	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTTGACAGTCAAAGTGACCA	0.279								Editing and processing nucleases																														uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(2143-2145)CAA>TAA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							61.0	60.0	61.0					1																	242045251		2203	4295	6498	SO:0001587	stop_gained	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242045251C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2143C>T	1.37:g.242045251C>T	ENSP00000355506:p.Gln715*					EXO1_uc001hzi.2_Nonsense_Mutation_p.Q715*|EXO1_uc001hzj.2_Nonsense_Mutation_p.Q715*|EXO1_uc009xgq.2_Nonsense_Mutation_p.Q714*	p.Q715*	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		14	2683	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	715			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	c.2143C>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	38	7.136337	0.98088	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	4.77	4.77	0.60923	.	0.510963	0.20794	N	0.085573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-2.0792	13.4964	0.61428	0.0:1.0:0.0:0.0	.	.	.	.	X	715	.	ENSP00000311873:Q715X	Q	+	1	0	EXO1	240111874	0.965000	0.33210	0.996000	0.52242	0.071000	0.16799	2.194000	0.42668	2.636000	0.89361	0.655000	0.94253	CAA		0.279	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		4	44	0	0	0	0	4	44				
OR2M2	391194	broad.mit.edu	37	1	248343777	248343777	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:248343777T>C	ENST00000359682.2	+	1	490	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTAGCCACATTTTCCTTCTC	0.418																																						uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(490-492)TTT>CTT		olfactory receptor, family 2, subfamily M,							215.0	213.0	214.0					1																	248343777		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343777T>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.490T>C	1.37:g.248343777T>C	ENSP00000352710:p.Phe164Leu						p.F164L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	490	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		164			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.490T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	0.011	-1.735435	0.00681	.	.	ENSG00000198601	ENST00000359682	T	0.00145	8.67	1.88	-3.75	0.04372	GPCR, rhodopsin-like superfamily (1);	0.284486	0.19042	U	0.124273	T	0.00039	0.0001	N	0.04116	-0.275	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.41215	-0.9521	10	0.05959	T	0.93	.	1.2405	0.01962	0.176:0.1157:0.181:0.5273	.	164	Q96R28	OR2M2_HUMAN	L	164	ENSP00000352710:F164L	ENSP00000352710:F164L	F	+	1	0	OR2M2	246410400	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.861000	0.04268	-1.481000	0.01863	-1.664000	0.00749	TTT		0.418	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		115	182	0	0	0	0	115	182				
FBXO18	84893	broad.mit.edu	37	10	5956205	5956205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:5956205C>T	ENST00000362091.4	+	8	1484	c.1369C>T	c.(1369-1371)Cag>Tag	p.Q457*	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Nonsense_Mutation_p.Q508*	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	457					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGAACCTCTCCAGGTGGTGAA	0.448																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(1369-1371)CAG>TAG		F-box only protein, helicase, 18 isoform 2							120.0	119.0	119.0					10																	5956205		2203	4300	6503	SO:0001587	stop_gained	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5956205C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1369C>T	10.37:g.5956205C>T	ENSP00000355415:p.Gln457*					FBXO18_uc001iir.2_Nonsense_Mutation_p.Q383*|FBXO18_uc009xig.2_Nonsense_Mutation_p.Q383*|FBXO18_uc001iit.2_Nonsense_Mutation_p.Q508*	p.Q457*	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			8	1464	+			457					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	ENST00000362091.4	37	c.1369C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	40	8.167296	0.98686	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.34	5.34	0.76211	.	0.051252	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-22.0899	18.6551	0.91450	0.0:1.0:0.0:0.0	.	.	.	.	X	457;194;508;194	.	ENSP00000355415:Q457X	Q	+	1	0	FBXO18	5996211	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.521000	0.73778	2.496000	0.84212	0.561000	0.74099	CAG		0.448	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		9	86	0	0	0	0	9	86				
APBB1IP	54518	broad.mit.edu	37	10	26789781	26789781	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:26789781A>G	ENST00000376236.4	+	5	649	c.194A>G	c.(193-195)gAt>gGt	p.D65G	APBB1IP_ENST00000356785.4_Missense_Mutation_p.D65G	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	65					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAAGATTTAGATGCTCTCATG	0.403																																						uc001iss.2		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(193-195)GAT>GGT		amyloid beta (A4) precursor protein-binding,							98.0	93.0	95.0					10																	26789781		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26789781A>G	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.194A>G	10.37:g.26789781A>G	ENSP00000365411:p.Asp65Gly					APBB1IP_uc001isr.2_Missense_Mutation_p.D65G|APBB1IP_uc009xks.1_Missense_Mutation_p.D65G	p.D65G	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			5	515	+			65					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.194A>G	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333094	0.81801	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.54479	0.57	5.84	5.84	0.93424	.	0.041245	0.85682	D	0.000000	T	0.71409	0.3336	M	0.71036	2.16	0.47905	D	0.999545	D;P;P	0.71674	0.998;0.693;0.951	D;P;P	0.79108	0.992;0.522;0.715	T	0.74791	-0.3545	10	0.87932	D	0	.	14.7846	0.69793	1.0:0.0:0.0:0.0	.	65;65;65	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	G	65	ENSP00000365411:D65G	ENSP00000349237:D65G	D	+	2	0	APBB1IP	26829787	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.089000	0.76909	2.227000	0.72691	0.460000	0.39030	GAT		0.403	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		14	51	0	0	0	0	14	51				
MASTL	84930	broad.mit.edu	37	10	27459563	27459563	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:27459563G>A	ENST00000375940.4	+	8	1732	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	MASTL_ENST00000375946.4_Missense_Mutation_p.D559N|MASTL_ENST00000342386.6_Missense_Mutation_p.D559N|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGATGATGATAGAGCTTC	0.333																																						uc001itm.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(1675-1677)GAT>AAT		microtubule associated serine/threonine							54.0	57.0	56.0					10																	27459563		2203	4298	6501	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459563G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1675G>A	10.37:g.27459563G>A	ENSP00000365107:p.Asp559Asn					MASTL_uc001itl.2_Missense_Mutation_p.D559N|MASTL_uc009xkw.1_Missense_Mutation_p.D559N|MASTL_uc009xkx.1_RNA	p.D559N	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			8	2314	+			559			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1675G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789090	0.49997	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.23147	1.92;1.92;1.92	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.487263	0.24587	N	0.037258	T	0.33059	0.0850	M	0.62723	1.935	0.30401	N	0.78005	P;B;P	0.40660	0.554;0.418;0.726	B;B;B	0.41946	0.299;0.169;0.371	T	0.22521	-1.0214	10	0.22109	T	0.4	-5.9303	19.2787	0.94042	0.0:0.0:1.0:0.0	.	559;559;559	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	559	ENSP00000365113:D559N;ENSP00000343446:D559N;ENSP00000365107:D559N	ENSP00000343446:D559N	D	+	1	0	MASTL	27499569	1.000000	0.71417	0.992000	0.48379	0.766000	0.43426	7.549000	0.82163	2.548000	0.85928	0.491000	0.48974	GAT		0.333	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		14	51	0	0	0	0	14	51				
ANK3	288	broad.mit.edu	37	10	62029966	62029966	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:62029966T>C	ENST00000280772.2	-	5	627	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	ANK3_ENST00000503366.1_Missense_Mutation_p.M129V|ANK3_ENST00000373827.2_Missense_Mutation_p.M140V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	146					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.M146V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGCTGCCATATACAATGGC	0.398																																						uc001jky.2		NA																	1	Substitution - Missense(1)		kidney(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(436-438)ATG>GTG		ankyrin 3 isoform 1							65.0	67.0	67.0					10																	62029966		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62029966T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.436A>G	10.37:g.62029966T>C	ENSP00000280772:p.Met146Val					ANK3_uc010qih.1_Missense_Mutation_p.M129V|ANK3_uc001jkz.3_Missense_Mutation_p.M140V|ANK3_uc001jlb.1_Translation_Start_Site	p.M146V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			5	628	-			146			ANK 3.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.436A>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051952	0.75960	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.62941	-0.01;0.05;0.05;0.05	4.88	4.88	0.63580	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000167	T	0.61248	0.2332	N	0.04959	-0.14	0.80722	D	1	P;D;D	0.76494	0.802;0.999;0.985	P;D;D	0.76071	0.479;0.987;0.977	T	0.71520	-0.4568	10	0.87932	D	0	.	14.6521	0.68805	0.0:0.0:0.0:1.0	.	129;140;146	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	V	146;140;129;108;120	ENSP00000280772:M146V;ENSP00000362933:M140V;ENSP00000425236:M129V;ENSP00000426011:M120V	ENSP00000280772:M146V	M	-	1	0	ANK3	61699972	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.868000	0.87116	2.047000	0.60756	0.379000	0.24179	ATG		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		19	33	0	0	0	0	19	33				
ARID5B	84159	broad.mit.edu	37	10	63816914	63816914	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:63816914G>C	ENST00000279873.7	+	6	1295	c.885G>C	c.(883-885)aaG>aaC	p.K295N	ARID5B_ENST00000309334.5_Missense_Mutation_p.K52N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	295					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAAGCCGAAGAATAACCATA	0.458																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(883-885)AAG>AAC		AT rich interactive domain 5B (MRF1-like)							65.0	67.0	66.0					10																	63816914		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63816914G>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.885G>C	10.37:g.63816914G>C	ENSP00000279873:p.Lys295Asn					ARID5B_uc001jlu.1_Missense_Mutation_p.K52N	p.K295N	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			6	911	+	Prostate(12;0.016)|all_hematologic(501;0.215)		295					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.885G>C	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537942	0.65085	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.20738	2.05;2.05	5.96	4.09	0.47781	.	0.107491	0.64402	D	0.000006	T	0.38268	0.1034	L	0.57536	1.79	0.41117	D	0.985789	D;D	0.71674	0.998;0.974	D;P	0.71870	0.975;0.715	T	0.12656	-1.0539	10	0.66056	D	0.02	-22.1563	9.1618	0.37028	0.2756:0.0:0.7244:0.0	.	52;295	Q14865-2;Q14865	.;ARI5B_HUMAN	N	295;52	ENSP00000279873:K295N;ENSP00000308862:K52N	ENSP00000279873:K295N	K	+	3	2	ARID5B	63486920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.199000	0.42715	0.834000	0.34852	0.655000	0.94253	AAG		0.458	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		18	22	0	0	0	0	18	22				
HERC4	26091	broad.mit.edu	37	10	69699408	69699408	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:69699408G>A	ENST00000395198.3	-	22	2779	c.2532C>T	c.(2530-2532)agC>agT	p.S844S	HERC4_ENST00000373700.4_Silent_p.S836S|HERC4_ENST00000277817.6_Silent_p.S734S|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	844	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTGTTGCATGCTTCTGCAAA	0.284																																						uc001jng.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2530-2532)AGC>AGT		hect domain and RLD 4 isoform a							108.0	104.0	106.0					10																	69699408		2202	4296	6498	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69699408G>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2532C>T	10.37:g.69699408G>A						HERC4_uc009xpq.2_Silent_p.S376S|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.S836S|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Silent_p.S580S	p.S844S	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			22	2843	-			844			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.2532C>T	CCDS41533.1																																																																																				0.284	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		10	34	0	0	0	0	10	34				
HKDC1	80201	broad.mit.edu	37	10	71000451	71000451	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:71000451G>A	ENST00000354624.5	+	6	768	c.635G>A	c.(634-636)gGg>gAg	p.G212E	HKDC1_ENST00000395086.2_Missense_Mutation_p.G212E	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	212	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACACCGTGGGGACCATGATG	0.562																																						uc001jpf.3		NA																	0				ovary(4)|skin(1)	5						c.(634-636)GGG>GAG		hexokinase domain containing 1							209.0	148.0	168.0					10																	71000451		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71000451G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.635G>A	10.37:g.71000451G>A	ENSP00000346643:p.Gly212Glu					HKDC1_uc010qje.1_Missense_Mutation_p.G75E	p.G212E	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			6	768	+			212					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.635G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025162	0.75390	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99716	-6.51;-6.51	4.49	2.43	0.29744	Hexokinase, N-terminal (1);	0.164296	0.52532	D	0.000069	D	0.99822	0.9921	H	0.98407	4.225	0.58432	D	0.999999	D	0.76494	0.999	D	0.68943	0.961	D	0.96757	0.9558	10	0.87932	D	0	-19.7258	14.841	0.70223	0.0:0.2713:0.7286:0.0	.	212	Q2TB90	HKDC1_HUMAN	E	212	ENSP00000346643:G212E;ENSP00000378521:G212E	ENSP00000346643:G212E	G	+	2	0	HKDC1	70670457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.291000	0.59025	1.205000	0.43262	0.491000	0.48974	GGG		0.562	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		29	41	0	0	0	0	29	41				
IFIT1B	439996	broad.mit.edu	37	10	91143656	91143656	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:91143656G>A	ENST00000371809.3	+	2	666	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	196										endometrium(2)|large_intestine(3)|lung(8)	13						CACAGCATCAGGGAGGAATAA	0.453																																						uc001kgh.2		NA																	0					0						c.(586-588)GGG>AGG		interferon-induced protein with							249.0	256.0	254.0					10																	91143656		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143656G>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.586G>A	10.37:g.91143656G>A	ENSP00000360874:p.Gly196Arg					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.G196R	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	666	+			196			TPR 4.		A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.586G>A	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	G	3.754	-0.050939	0.07407	.	.	ENSG00000204010	ENST00000371809	T	0.14766	2.48	3.16	-4.95	0.03048	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	4.497160	0.01020	U	0.003960	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26467	-1.0102	10	0.16420	T	0.52	.	6.7127	0.23286	0.4255:0.1934:0.3812:0.0	.	196	Q5T764	IFT1B_HUMAN	R	196	ENSP00000360874:G196R	ENSP00000360874:G196R	G	+	1	0	IFIT1B	91133636	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.085000	0.00298	-1.212000	0.02620	-0.270000	0.10280	GGG		0.453	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		43	211	0	0	0	0	43	211				
SMC3	9126	broad.mit.edu	37	10	112356208	112356208	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:112356208G>A	ENST00000361804.4	+	19	2142	c.2016G>A	c.(2014-2016)agG>agA	p.R672R		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	672					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATGACACAAGGAAGTCTCGAC	0.373																																						uc001kze.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2014-2016)AGG>AGA		structural maintenance of chromosomes 3							115.0	116.0	116.0					10																	112356208		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112356208G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2016G>A	10.37:g.112356208G>A							p.R672R	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	19	2142	+		Breast(234;0.0848)|Lung NSC(174;0.238)	672			Potential.		A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.2016G>A	CCDS31285.1																																																																																				0.373	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		28	53	0	0	0	0	28	53				
EBF3	253738	broad.mit.edu	37	10	131641455	131641455	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:131641455C>T	ENST00000355311.5	-	12	1212	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	EBF3_ENST00000368648.3_Silent_p.L371L|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	380					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCGCCCGCTTCAGTAACACCT	0.602																																						uc001lki.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1111-1113)CTG>CTA		early B-cell factor 3							69.0	58.0	62.0					10																	131641455		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131641455C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1140G>A	10.37:g.131641455C>T							p.L371L	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	12	1172	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	380					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.1113G>A																																																																																					0.602	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		4	10	0	0	0	0	4	10				
ECHS1	1892	broad.mit.edu	37	10	135176399	135176399	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:135176399C>G	ENST00000368547.3	-	8	1201	c.846G>C	c.(844-846)aaG>aaC	p.K282N		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	282					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TGGCCTTTCTCTTTTCCACAA	0.517																																					GBM(132;1720 1771 5373 10277 21402)	uc001lmu.2		NA																	0					0						c.(844-846)AAG>AAC		mitochondrial short-chain enoyl-coenzyme A							306.0	229.0	255.0					10																	135176399		2203	4300	6503	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135176399C>G		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.846G>C	10.37:g.135176399C>G	ENSP00000357535:p.Lys282Asn						p.K282N	NM_004092	NP_004083	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	8	917	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	282					O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.846G>C	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194387	0.78902	.	.	ENSG00000127884	ENST00000368547	T	0.56776	0.44	5.39	3.51	0.40186	Crontonase, C-terminal (1);	0.118006	0.56097	D	0.000029	T	0.74053	0.3666	M	0.91818	3.245	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	T	0.74990	-0.3475	10	0.87932	D	0	.	7.7458	0.28869	0.0:0.8146:0.0:0.1854	.	282	P30084	ECHM_HUMAN	N	282	ENSP00000357535:K282N	ENSP00000357535:K282N	K	-	3	2	ECHS1	135026389	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.624000	0.46444	0.631000	0.30412	0.650000	0.86243	AAG		0.517	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			4	75	0	0	0	0	4	75				
TEAD1	7003	broad.mit.edu	37	11	12785959	12785959	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:12785959A>T	ENST00000527575.1	+	2	293	c.180A>T	c.(178-180)ttA>ttT	p.L60F	TEAD1_ENST00000361905.4_Missense_Mutation_p.L45F|TEAD1_ENST00000527636.1_Missense_Mutation_p.L60F|TEAD1_ENST00000361985.2_Missense_Mutation_p.L60F|TEAD1_ENST00000334310.6_Missense_Mutation_p.L45F			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	60					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAATCATCTTATCAGACGAAG	0.488																																						uc001mkj.3		NA																	0					0						c.(133-135)TTA>TTT		TEA domain family member 1							96.0	94.0	95.0					11																	12785959		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12785959A>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.180A>T	11.37:g.12785959A>T	ENSP00000435977:p.Leu60Phe						p.L45F	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	3	800	+			60			TEA.		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.135A>T		.	.	.	.	.	.	.	.	.	.	A	21.2	4.120334	0.77323	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527376;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	3.06	0.35304	.	0.080047	0.51477	N	0.000093	T	0.55114	0.1900	M	0.89163	3.01	0.58432	D	0.999998	P	0.42010	0.768	P	0.49421	0.61	T	0.58951	-0.7545	10	0.87932	D	0	-9.3701	5.9687	0.19340	0.7103:0.1407:0.149:0.0	.	60	P28347	TEAD1_HUMAN	F	45;60;60;60;45;60	ENSP00000355332:L45F;ENSP00000435233:L60F;ENSP00000432587:L60F;ENSP00000435977:L60F;ENSP00000334754:L45F;ENSP00000354588:L60F	ENSP00000334754:L45F	L	+	3	2	TEAD1	12742535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.076000	0.30729	1.039000	0.40074	0.482000	0.46254	TTA		0.488	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		23	42	0	0	0	0	23	42				
CYP2R1	120227	broad.mit.edu	37	11	14907463	14907463	+	Splice_Site	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:14907463T>A	ENST00000334636.5	-	2	272	c.226A>T	c.(226-228)Atc>Ttc	p.I76F	CYP2R1_ENST00000532378.1_5'UTR|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	76					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AAACTGAAGATCTTTGAGAAG	0.373																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(226-228)ATC>TTC		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						87.0	80.0	82.0					11																	14907463		2200	4294	6494	SO:0001630	splice_region_variant	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14907463T>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.226-1A>T	11.37:g.14907463T>A						CYP2R1_uc001mlo.2_5'UTR|CYP2R1_uc001mlp.2_5'UTR|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Missense_Mutation_p.I21F	p.I76F	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			2	226	-			76					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.226A>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496176	0.85069	.	.	ENSG00000186104	ENST00000334636	T	0.71579	-0.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85726	0.1328	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	76	Q6VVX0	CP2R1_HUMAN	F	76	ENSP00000334592:I76F	ENSP00000334592:I76F	I	-	1	0	CYP2R1	14864039	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.987000	0.70571	2.371000	0.80710	0.533000	0.62120	ATC		0.373	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514	Missense_Mutation	14	33	0	0	0	0	14	33				
ANO5	203859	broad.mit.edu	37	11	22248857	22248857	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:22248857G>C	ENST00000324559.8	+	7	690	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	125					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTCGGAAGATGGAAGAAC	0.348																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(373-375)GAT>CAT		anoctamin 5 isoform a							128.0	128.0	128.0					11																	22248857		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22248857G>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.373G>C	11.37:g.22248857G>C	ENSP00000315371:p.Asp125His					ANO5_uc001mqj.2_Missense_Mutation_p.D124H	p.D125H	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			7	690	+			125			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.373G>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462280	0.63513	.	.	ENSG00000171714	ENST00000324559	T	0.71222	-0.55	5.94	4.09	0.47781	.	0.175118	0.64402	D	0.000009	T	0.79621	0.4477	M	0.69463	2.115	0.51482	D	0.999927	D	0.76494	0.999	D	0.71656	0.974	T	0.79271	-0.1872	10	0.72032	D	0.01	.	8.4514	0.32873	0.2865:0.0:0.7135:0.0	.	125	Q75V66	ANO5_HUMAN	H	125	ENSP00000315371:D125H	ENSP00000315371:D125H	D	+	1	0	ANO5	22205433	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.749000	0.55150	0.858000	0.35431	0.650000	0.86243	GAT		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		38	97	0	0	0	0	38	97				
OR4B1	119765	broad.mit.edu	37	11	48238839	48238839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:48238839G>A	ENST00000309562.2	+	1	496	c.478G>A	c.(478-480)Gtt>Att	p.V160I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGATTCTCGTTATCATCCA	0.468																																						uc010rhs.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(478-480)GTT>ATT		olfactory receptor, family 4, subfamily B,							112.0	111.0	111.0					11																	48238839		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238839G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.478G>A	11.37:g.48238839G>A	ENSP00000311605:p.Val160Ile						p.V160I	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	478	+			160			Extracellular (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.478G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	2.489	-0.317779	0.05386	.	.	ENSG00000175619	ENST00000309562	T	0.00164	8.64	5.54	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	0.423844	0.20385	N	0.093368	T	0.00039	0.0001	N	0.02103	-0.685	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.26258	-1.0108	10	0.37606	T	0.19	.	4.293	0.10888	0.3013:0.1227:0.4561:0.1198	.	160	Q8NGF8	OR4B1_HUMAN	I	160	ENSP00000311605:V160I	ENSP00000311605:V160I	V	+	1	0	OR4B1	48195415	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.570000	0.00427	-0.776000	0.04578	-0.357000	0.07601	GTT		0.468	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		38	77	0	0	0	0	38	77				
TRIM51	84767	broad.mit.edu	37	11	55653074	55653074	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:55653074A>C	ENST00000449290.2	+	2	262	c.170A>C	c.(169-171)aAg>aCg	p.K57T	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	57						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GAATGCAAGAAGACAACGCGG	0.512																																						uc010rip.1		NA																	0					0						c.(169-171)AAG>ACG		SPRY domain containing 5							45.0	38.0	40.0					11																	55653074		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653074A>C	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.170A>C	11.37:g.55653074A>C	ENSP00000395086:p.Lys57Thr					SPRYD5_uc010riq.1_5'Flank	p.K57T	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	262	+		all_epithelial(135;0.226)	57					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.170A>C		.	.	.	.	.	.	.	.	.	.	.	3.160	-0.172328	0.06421	.	.	ENSG00000124900	ENST00000449290	D	0.83250	-1.7	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.60170	0.2248	N	0.10733	0.035	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.41998	-0.9477	9	0.31617	T	0.26	.	1.9136	0.03292	0.4911:0.0:0.2396:0.2693	.	57	Q9BSJ1	SPRY5_HUMAN	T	57	ENSP00000395086:K57T	ENSP00000395086:K57T	K	+	2	0	SPRYD5	55409650	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.408000	0.07169	-1.027000	0.03325	0.128000	0.15822	AAG		0.512	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		4	14	0	0	0	0	4	14				
OR10AG1	282770	broad.mit.edu	37	11	55735780	55735780	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:55735780G>C	ENST00000312345.2	-	1	210	c.160C>G	c.(160-162)Ctt>Gtt	p.L54V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATTGCTAAGAAAAAAATAC	0.328																																						uc010rit.1		NA																	0				skin(2)	2						c.(160-162)CTT>GTT		olfactory receptor, family 10, subfamily AG,							53.0	61.0	58.0					11																	55735780		2199	4295	6494	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735780G>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.160C>G	11.37:g.55735780G>C	ENSP00000311477:p.Leu54Val						p.L54V	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	160	-	Esophageal squamous(21;0.0137)		54			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.160C>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853931	0.32791	.	.	ENSG00000174970	ENST00000312345	T	0.14022	2.54	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000414	T	0.44180	0.1281	H	0.95079	3.62	0.32535	N	0.53442	D	0.53885	0.963	P	0.54372	0.75	T	0.69079	-0.5240	10	0.72032	D	0.01	.	16.5486	0.84457	0.0:0.0:1.0:0.0	.	54	Q8NH19	O10AG_HUMAN	V	54	ENSP00000311477:L54V	ENSP00000311477:L54V	L	-	1	0	OR10AG1	55492356	0.824000	0.29247	0.572000	0.28498	0.184000	0.23303	1.114000	0.31196	2.506000	0.84524	0.398000	0.26397	CTT		0.328	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		15	81	0	0	0	0	15	81				
INTS5	80789	broad.mit.edu	37	11	62416825	62416825	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:62416825G>A	ENST00000330574.2	-	2	779	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	243					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCACAGGAGAGAACCCGGGAA	0.542																																						uc001nud.2		NA																	0				ovary(2)	2						c.(727-729)CTC>TTC		integrator complex subunit 5							105.0	95.0	98.0					11																	62416825		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416825G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.727C>T	11.37:g.62416825G>A	ENSP00000327889:p.Leu243Phe					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L243F	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	780	-			243					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.727C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302235	0.60195	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000004	T	0.78033	0.4220	M	0.73962	2.25	0.40557	D	0.981174	D	0.89917	1.0	D	0.78314	0.991	T	0.81826	-0.0754	9	0.87932	D	0	.	14.8911	0.70609	0.0:0.0:1.0:0.0	.	243	Q6P9B9	INT5_HUMAN	F	243	.	ENSP00000327889:L243F	L	-	1	0	INTS5	62173401	0.994000	0.37717	1.000000	0.80357	0.966000	0.64601	2.151000	0.42263	2.378000	0.81104	0.650000	0.86243	CTC		0.542	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		21	50	0	0	0	0	21	50				
NPAS4	266743	broad.mit.edu	37	11	66191403	66191403	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:66191403G>A	ENST00000311034.2	+	7	1218	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	348					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCATTCCCTGAAAACATTCT	0.577																																						uc001ohx.1		NA																	0					0						c.(1042-1044)GAA>AAA		neuronal PAS domain protein 4							143.0	148.0	146.0					11																	66191403		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191403G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1042G>A	11.37:g.66191403G>A	ENSP00000311196:p.Glu348Lys					NPAS4_uc010rpc.1_Missense_Mutation_p.E138K	p.E348K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1218	+			348					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1042G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681285	0.29872	.	.	ENSG00000174576	ENST00000311034	T	0.45276	0.9	4.8	3.85	0.44370	.	0.508749	0.18012	N	0.154507	T	0.25975	0.0633	N	0.24115	0.695	0.42726	D	0.993695	B	0.33694	0.421	B	0.29862	0.108	T	0.03863	-1.0997	10	0.13108	T	0.6	-3.4275	12.4318	0.55578	0.0:0.1705:0.8295:0.0	.	348	Q8IUM7	NPAS4_HUMAN	K	348	ENSP00000311196:E348K	ENSP00000311196:E348K	E	+	1	0	NPAS4	65947979	0.974000	0.33945	0.971000	0.41717	0.982000	0.71751	2.881000	0.48538	1.181000	0.42912	0.561000	0.74099	GAA		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		29	181	0	0	0	0	29	181				
ACER3	55331	broad.mit.edu	37	11	76709867	76709867	+	Splice_Site	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:76709867T>C	ENST00000532485.1	+	7	601		c.e7+2		ACER3_ENST00000533873.1_Splice_Site|ACER3_ENST00000526597.1_Splice_Site|ACER3_ENST00000544113.1_Splice_Site|ACER3_ENST00000538157.1_Splice_Site	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3						ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TGTTACATGGTAAGTAGTTTG	0.318																																						uc009yum.1		NA																	0					0						c.e7+2		phytoceramidase, alkaline							271.0	219.0	237.0					11																	76709867		2198	4289	6487	SO:0001630	splice_region_variant	55331				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	g.chr11:76709867T>C	AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.497+2T>C	11.37:g.76709867T>C						ACER3_uc010rsg.1_Splice_Site_p.W124_splice|ACER3_uc009yul.1_Splice_Site|ACER3_uc001oxu.2_Splice_Site|ACER3_uc009yun.1_Splice_Site_p.W124_splice|ACER3_uc009yuo.1_Splice_Site_p.W71_splice|ACER3_uc010rsh.1_Splice_Site_p.W129_splice|ACER3_uc010rsi.1_Splice_Site_p.W71_splice|ACER3_uc010rsj.1_Splice_Site_p.W71_splice	p.W166_splice	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN			7	601	+								B2RC99	Splice_Site	SNP	ENST00000532485.1	37	c.497_splice	CCDS8247.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101783	0.56183	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243;ENST00000544113	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7037	0.40203	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACER3	76387515	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.310000	0.51911	1.791000	0.52520	0.368000	0.22195	.		0.318	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382770.2	NM_018367	Intron	7	29	0	0	0	0	7	29				
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:92624013G>A	ENST00000298047.6	+	27	13521	c.13504G>A	c.(13504-13506)Gaa>Aaa	p.E4502K	FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4502	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(13408-13410)GAA>AAA		FAT tumor suppressor homolog 3							40.0	42.0	41.0					11																	92624013		1965	4139	6104	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624013G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13504G>A	11.37:g.92624013G>A	ENSP00000298047:p.Glu4502Lys	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.E942K	p.E4470K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			25	13425	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4502			Pro-rich.|Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.13408G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.126139	0.94429	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.66	5.66	0.87406	.	.	.	.	.	T	0.44117	0.1278	M	0.61703	1.905	0.80722	D	1	D;D	0.57571	0.974;0.98	P;P	0.48738	0.458;0.588	T	0.39921	-0.9590	9	0.62326	D	0.03	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	4470;4502	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	4502;4470;4352;805	ENSP00000298047:E4502K;ENSP00000387040:E4470K;ENSP00000432586:E4352K;ENSP00000436399:E805K	ENSP00000298047:E4502K	E	+	1	0	FAT3	92263661	1.000000	0.71417	0.953000	0.39169	0.929000	0.56500	4.722000	0.61958	2.665000	0.90641	0.655000	0.94253	GAA		0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	29	0	0	0	0	17	29				
SLC35F2	54733	broad.mit.edu	37	11	107676147	107676147	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:107676147C>T	ENST00000525815.1	-	5	1089	c.669G>A	c.(667-669)ctG>ctA	p.L223L	SLC35F2_ENST00000375682.4_Silent_p.L176L|SLC35F2_ENST00000265836.7_Silent_p.L75L|SLC35F2_ENST00000429869.1_Silent_p.L223L|SLC35F2_ENST00000525071.1_Silent_p.L223L	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	223					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CCTGTCTGCTCAGCTTCTTCA	0.408																																						uc001pjq.2		NA																	0				central_nervous_system(1)	1						c.(667-669)CTG>CTA		solute carrier family 35, member F2							79.0	76.0	77.0					11																	107676147		1891	4117	6008	SO:0001819	synonymous_variant	54733				transport	integral to membrane		g.chr11:107676147C>T		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.669G>A	11.37:g.107676147C>T						SLC35F2_uc010rvu.1_Silent_p.L75L|SLC35F2_uc001pjs.2_3'UTR	p.L223L	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	5	1090	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	223					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Silent	SNP	ENST00000525815.1	37	c.669G>A	CCDS41709.1																																																																																				0.408	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		5	46	0	0	0	0	5	46				
SIK3	23387	broad.mit.edu	37	11	116729228	116729228	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:116729228G>C	ENST00000292055.4	-	20	2670	c.2635C>G	c.(2635-2637)Cag>Gag	p.Q879E	SIK3_ENST00000375288.1_Missense_Mutation_p.Q214E|SIK3_ENST00000375300.1_Missense_Mutation_p.Q937E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q819E|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Q877E|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000434315.2_Missense_Mutation_p.Q718E	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	879	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGCGGCTGCTGATGTGCACTG	0.587																																						uc001ppy.2		NA																	0		p.R879R(1)		ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2635-2637)CAG>GAG		serine/threonine-protein kinase QSK							103.0	103.0	103.0					11																	116729228		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729228G>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2635C>G	11.37:g.116729228G>C	ENSP00000292055:p.Gln879Glu					SIK3_uc001ppz.2_Missense_Mutation_p.Q718E|SIK3_uc001pqa.2_Missense_Mutation_p.Q819E|SIK3_uc001ppw.2_Missense_Mutation_p.Q236E|SIK3_uc001ppx.2_Missense_Mutation_p.Q257E|SIK3_uc001pqb.2_Missense_Mutation_p.Q182E	p.Q879E	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	2671	-			879			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2635C>G	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.528|3.528	-0.096435|-0.096435	0.07010|0.07010	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|.	0.71461|.	-0.53;-0.57;1.5;-0.54;-0.15|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.39544|.	U|.	0.001336|.	T|.	0.58892|.	0.2154|.	L|L	0.29908|0.29908	0.895|0.895	0.43890|0.43890	D|D	0.996519|0.996519	B;B;B;B;P|.	0.50943|.	0.163;0.102;0.03;0.102;0.94|.	B;B;B;B;P|.	0.47402|.	0.102;0.029;0.029;0.029;0.546|.	T|.	0.53114|.	-0.8484|.	10|.	0.66056|.	D|.	0.02|.	.|.	19.3121|19.3121	0.94192|0.94192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	879;819;718;879;214|.	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;.;SIK3_HUMAN;.|.	E|X	937;879;214;819;718|978;841	ENSP00000364449:Q937E;ENSP00000292055:Q879E;ENSP00000364437:Q214E;ENSP00000438108:Q819E;ENSP00000415873:Q718E|.	ENSP00000292055:Q879E|.	Q|S	-|-	1|2	0|0	SIK3|SIK3	116234438|116234438	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	6.544000|6.544000	0.73878|0.73878	2.544000|2.544000	0.85801|0.85801	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.587	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		12	107	0	0	0	0	12	107				
OR6T1	219874	broad.mit.edu	37	11	123814028	123814028	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:123814028C>A	ENST00000321252.2	-	1	552	c.518G>T	c.(517-519)gGt>gTt	p.G173V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGGTCAATACCATTGGGGCC	0.562																																						uc010sab.1		NA																	0				ovary(1)	1						c.(517-519)GGT>GTT		olfactory receptor, family 6, subfamily T,							77.0	65.0	69.0					11																	123814028		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814028C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.518G>T	11.37:g.123814028C>A	ENSP00000325203:p.Gly173Val						p.G173V	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	518	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	173			Extracellular (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.518G>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.725536	0.00694	.	.	ENSG00000181499	ENST00000321252	T	0.00034	8.87	3.7	-0.776	0.10984	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39418	-0.9615	9	0.02654	T	1	-17.9876	3.5809	0.07952	0.4986:0.2897:0.0:0.2116	.	173	Q8NGN1	OR6T1_HUMAN	V	173	ENSP00000325203:G173V	ENSP00000325203:G173V	G	-	2	0	OR6T1	123319238	0.000000	0.05858	0.000000	0.03702	0.945000	0.59286	-2.022000	0.01439	-0.413000	0.07507	0.563000	0.77884	GGT		0.562	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		25	21	1	0	7.76e-22	8.56e-22	25	21				
PRDM10	56980	broad.mit.edu	37	11	129780421	129780421	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:129780421G>A	ENST00000360871.3	-	19	3344	c.3113C>T	c.(3112-3114)tCt>tTt	p.S1038F	PRDM10_ENST00000526082.1_Missense_Mutation_p.S956F|PRDM10_ENST00000528746.1_Missense_Mutation_p.S999F|PRDM10_ENST00000304538.6_Missense_Mutation_p.S905F|PRDM10_ENST00000358825.5_Missense_Mutation_p.S1042F|PRDM10_ENST00000423662.2_Missense_Mutation_p.S943F	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1029					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGCTGCACAGAGGAATTctg	0.607																																						uc001qfm.2		NA																	0				pancreas(1)	1						c.(3124-3126)TCT>TTT		PR domain containing 10 isoform 1							57.0	49.0	52.0					11																	129780421		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129780421G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3113C>T	11.37:g.129780421G>A	ENSP00000354118:p.Ser1038Phe					PRDM10_uc001qfj.2_Missense_Mutation_p.S943F|PRDM10_uc001qfk.2_Missense_Mutation_p.S905F|PRDM10_uc001qfl.2_Missense_Mutation_p.S956F|PRDM10_uc010sbx.1_Missense_Mutation_p.S952F|PRDM10_uc001qfn.2_Missense_Mutation_p.S1038F	p.S1042F	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	20	3357	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1029			Gln-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.3125C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157008	0.78114	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.14516	2.64;2.5;2.64;2.63;2.69;2.61;2.71	5.69	5.69	0.88448	.	0.287528	0.35179	N	0.003381	T	0.16214	0.0390	N	0.24115	0.695	0.43275	D	0.995234	B;B;B;B;B;B	0.33857	0.303;0.429;0.303;0.429;0.226;0.429	B;B;B;B;B;B	0.40228	0.121;0.323;0.172;0.241;0.244;0.323	T	0.04723	-1.0931	10	0.87932	D	0	-16.6591	19.812	0.96551	0.0:0.0:1.0:0.0	.	952;1038;1029;956;905;943	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	F	1042;905;1038;943;999;956;755	ENSP00000351686:S1042F;ENSP00000302669:S905F;ENSP00000354118:S1038F;ENSP00000398431:S943F;ENSP00000431262:S999F;ENSP00000432237:S956F;ENSP00000435940:S755F	ENSP00000302669:S905F	S	-	2	0	PRDM10	129285631	1.000000	0.71417	0.448000	0.26945	0.553000	0.35397	9.199000	0.95003	2.685000	0.91497	0.655000	0.94253	TCT		0.607	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		11	45	0	0	0	0	11	45				
LMNTD1	160492	broad.mit.edu	37	12	25702360	25702360	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:25702360A>T	ENST00000282881.6	-	2	296	c.147T>A	c.(145-147)taT>taA	p.Y49*	IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.Y70*	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		49					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GACTAGACAGATAGTAACCAA	0.398																																						uc001rgs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(145-147)TAT>TAA		intermediate filament tail domain containing 1							93.0	82.0	86.0					12																	25702360		2203	4300	6503	SO:0001587	stop_gained	160492					intermediate filament	structural molecule activity	g.chr12:25702360A>T																												ENST00000282881.6:c.147T>A	12.37:g.25702360A>T	ENSP00000282881:p.Tyr49*					IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Nonsense_Mutation_p.Y70*|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.Y70*	p.Y49*	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			2	297	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		49					B4DL27|B4DY70|Q8IY38	Nonsense_Mutation	SNP	ENST00000282881.6	37	c.147T>A	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207348	0.58343	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	.	.	.	3.88	-0.58	0.11717	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6301	6.7313	0.23385	0.5146:0.0:0.4854:0.0	.	.	.	.	X	49;70;70;24;24;24	.	ENSP00000282881:Y49X	Y	-	3	2	IFLTD1	25593627	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.291000	0.08343	-0.103000	0.12175	0.528000	0.53228	TAT		0.398	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			22	37	0	0	0	0	22	37				
RASSF8	11228	broad.mit.edu	37	12	26217552	26217552	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:26217552C>G	ENST00000405154.2	+	3	424	c.225C>G	c.(223-225)ctC>ctG	p.L75L	RASSF8_ENST00000541490.1_Silent_p.L75L|RASSF8_ENST00000381352.3_Silent_p.L75L|RASSF8_ENST00000542865.1_Silent_p.L75L|RASSF8_ENST00000282884.9_Silent_p.L75L	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	75	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGTGCAGCTCATTCTACGAC	0.463																																						uc001rgx.2		NA																	0					0						c.(223-225)CTC>CTG		Ras association (RalGDS/AF-6) domain family							128.0	125.0	126.0					12																	26217552		2203	4300	6503	SO:0001819	synonymous_variant	11228				signal transduction			g.chr12:26217552C>G	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.225C>G	12.37:g.26217552C>G						RASSF8_uc001rgy.2_Silent_p.L75L|RASSF8_uc001rgz.2_Silent_p.L75L|RASSF8_uc009zjd.1_Silent_p.L75L|RASSF8_uc009zje.1_Silent_p.L75L	p.L75L	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	446	+	Colorectal(261;0.0847)		75			Ras-associating.		A8K1Z0|O95647|Q5SCI2|Q76KB6	Silent	SNP	ENST00000405154.2	37	c.225C>G	CCDS53765.1																																																																																				0.463	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		21	109	0	0	0	0	21	109				
KIAA1551	55196	broad.mit.edu	37	12	32135856	32135856	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:32135856C>T	ENST00000312561.4	+	4	2381	c.1967C>T	c.(1966-1968)tCa>tTa	p.S656L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	656																	CAAGAATCCTCAACAAAAGGA	0.423																																						uc001rks.2		NA																	0				ovary(1)|skin(1)	2						c.(1966-1968)TCA>TTA		hypothetical protein LOC55196							68.0	65.0	66.0					12																	32135856		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135856C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1967C>T	12.37:g.32135856C>T	ENSP00000310338:p.Ser656Leu						p.S656L	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	2381	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		656					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1967C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574700	0.45902	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.09817	3.6;2.94	4.99	3.15	0.36227	.	0.208554	0.23563	N	0.046833	T	0.11367	0.0277	L	0.54323	1.7	0.09310	N	1	P	0.35507	0.506	B	0.37780	0.258	T	0.13575	-1.0504	9	.	.	.	.	7.6447	0.28312	0.0:0.7375:0.0:0.2625	.	656	Q9HCM1	CL035_HUMAN	L	656	ENSP00000310338:S656L;ENSP00000370442:S656L	.	S	+	2	0	C12orf35	32027123	0.000000	0.05858	0.024000	0.17045	0.453000	0.32348	0.573000	0.23699	1.086000	0.41228	0.563000	0.77884	TCA		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		6	59	0	0	0	0	6	59				
NELL2	4753	broad.mit.edu	37	12	45173642	45173642	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:45173642C>T	ENST00000429094.2	-	4	1003	c.499G>A	c.(499-501)Gac>Aac	p.D167N	NELL2_ENST00000549027.1_Missense_Mutation_p.D166N|NELL2_ENST00000437801.2_Missense_Mutation_p.D217N|NELL2_ENST00000395487.2_Missense_Mutation_p.D166N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.D167N|NELL2_ENST00000551601.1_Missense_Mutation_p.D166N|NELL2_ENST00000333837.4_Missense_Mutation_p.D190N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	167	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTATTGCAGTCAATGTGTAAA	0.403																																						uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(499-501)GAC>AAC		NEL-like protein 2 isoform b precursor							116.0	107.0	110.0					12																	45173642		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173642C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.499G>A	12.37:g.45173642C>T	ENSP00000390680:p.Asp167Asn					NELL2_uc001rof.3_Missense_Mutation_p.D166N|NELL2_uc001roh.2_Missense_Mutation_p.D167N|NELL2_uc009zkd.2_Missense_Mutation_p.D166N|NELL2_uc010skz.1_Missense_Mutation_p.D217N|NELL2_uc010sla.1_Missense_Mutation_p.D190N|NELL2_uc001roi.1_Missense_Mutation_p.D167N|NELL2_uc010slb.1_Missense_Mutation_p.D166N|NELL2_uc001roj.2_Missense_Mutation_p.D167N	p.D167N	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	1094	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	167			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.499G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247875	0.95305	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;0.999;0.996;0.999;1.0	T	0.25710	-1.0124	10	0.87932	D	0	-21.0595	19.1419	0.93449	0.0:1.0:0.0:0.0	.	190;217;166;167;167;166	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	N	166;167;166;167;166;190;217;166;167;164	ENSP00000378866:D166N;ENSP00000390680:D167N;ENSP00000449332:D166N;ENSP00000394612:D167N;ENSP00000447927:D166N;ENSP00000327988:D190N;ENSP00000416341:D217N;ENSP00000447085:D167N;ENSP00000447384:D164N	ENSP00000327988:D190N	D	-	1	0	NELL2	43459909	1.000000	0.71417	0.951000	0.38953	0.888000	0.51559	7.771000	0.85420	2.517000	0.84864	0.655000	0.94253	GAC		0.403	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		8	82	0	0	0	0	8	82				
DDX23	9416	broad.mit.edu	37	12	49225034	49225034	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:49225034G>C	ENST00000308025.3	-	16	2209	c.2130C>G	c.(2128-2130)ctC>ctG	p.L710L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	710	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|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)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCCAGCCTTGAGGTTGGACA	0.483																																						uc001rsm.2		NA																	0				kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(2128-2130)CTC>CTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							179.0	159.0	166.0					12																	49225034		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49225034G>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2130C>G	12.37:g.49225034G>C							p.L710L	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			16	2221	-			710			Helicase C-terminal.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.2130C>G	CCDS8770.1																																																																																				0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		19	146	0	0	0	0	19	146				
SCN8A	6334	broad.mit.edu	37	12	52099309	52099309	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:52099309G>A	ENST00000354534.6	+	10	1421	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E415K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E415K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	415					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CATGGCTTATGAAGAACAGAA	0.453																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(1243-1245)GAA>AAA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						133.0	136.0	135.0					12																	52099309		2136	4284	6420	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52099309G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1243G>A	12.37:g.52099309G>A	ENSP00000346534:p.Glu415Lys					SCN8A_uc010snl.1_Missense_Mutation_p.E280K|SCN8A_uc001ryx.1_Missense_Mutation_p.E280K|SCN8A_uc001ryz.1_Missense_Mutation_p.E280K|SCN8A_uc001ryy.2_Missense_Mutation_p.E280K	p.E415K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	10	1421	+			415			I.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1243G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367815	0.95900	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45	4.96	4.96	0.65561	.	0.111984	0.64402	D	0.000011	D	0.98563	0.9520	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;0.971	D;D;D;B	0.85130	0.987;0.958;0.997;0.373	D	0.99414	1.0931	10	0.87932	D	0	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	415;415;415;415	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	K	415;415;415;415;328;213	ENSP00000448415:E415K;ENSP00000346534:E415K;ENSP00000440360:E415K;ENSP00000347255:E415K;ENSP00000447567:E213K	ENSP00000346534:E415K	E	+	1	0	SCN8A	50385576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GAA		0.453	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	33	0	0	0	0	4	33				
MYF5	4617	broad.mit.edu	37	12	81112735	81112735	+	Missense_Mutation	SNP	C	C	A	rs533956404|rs201317366	byFrequency	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:81112735C>A	ENST00000228644.3	+	3	825	c.673C>A	c.(673-675)Cag>Aag	p.Q225K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	225					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCTCTCCAGGATCTGGC	0.488																																						uc001szg.2		NA																	0				ovary(1)	1						c.(673-675)CAG>AAG		myogenic factor 5							106.0	100.0	102.0					12																	81112735		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112735C>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.673C>A	12.37:g.81112735C>A	ENSP00000228644:p.Gln225Lys						p.Q225K	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	808	+			225					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.673C>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928326	0.18131	.	.	ENSG00000111049	ENST00000228644	D	0.98296	-4.85	6.06	6.06	0.98353	.	0.219884	0.41712	D	0.000839	D	0.95752	0.8618	L	0.29908	0.895	0.38653	D	0.951895	B	0.17465	0.022	B	0.14023	0.01	D	0.93192	0.6584	10	0.18710	T	0.47	-0.4596	19.3923	0.94587	0.0:1.0:0.0:0.0	.	225	P13349	MYF5_HUMAN	K	225	ENSP00000228644:Q225K	ENSP00000228644:Q225K	Q	+	1	0	MYF5	79636866	0.991000	0.36638	1.000000	0.80357	0.769000	0.43574	2.981000	0.49329	2.882000	0.98803	0.655000	0.94253	CAG		0.488	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		25	60	1	0	7.42e-09	8e-09	25	60				
CUX2	23316	broad.mit.edu	37	12	111785464	111785464	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:111785464G>A	ENST00000261726.6	+	22	3950	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1266					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						CTCTGAGACTGAGGACCAGAA	0.622																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(3796-3798)GAG>AAG		cut-like 2							51.0	59.0	57.0					12																	111785464		1991	4153	6144	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785464G>A	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.3796G>A	12.37:g.111785464G>A	ENSP00000261726:p.Glu1266Lys						p.E1266K	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	3949	+			1266					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3796G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831820	0.71258	.	.	ENSG00000111249	ENST00000261726	T	0.48836	0.8	5.78	5.78	0.91487	.	0.055023	0.64402	D	0.000001	T	0.45597	0.1350	L	0.34521	1.04	0.58432	D	0.999999	D	0.56521	0.976	P	0.50049	0.629	T	0.19516	-1.0303	10	0.07990	T	0.79	-31.7542	18.7919	0.91976	0.0:0.0:1.0:0.0	.	1266	O14529	CUX2_HUMAN	K	1266	ENSP00000261726:E1266K	ENSP00000261726:E1266K	E	+	1	0	CUX2	110269847	1.000000	0.71417	0.995000	0.50966	0.303000	0.27691	7.590000	0.82653	2.729000	0.93468	0.650000	0.86243	GAG		0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		11	32	0	0	0	0	11	32				
TRIAP1	51499	broad.mit.edu	37	12	120882720	120882720	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:120882720C>T	ENST00000546954.1	-	2	225	c.186G>A	c.(184-186)ctG>ctA	p.L62L	TRIAP1_ENST00000302432.3_5'UTR|AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	62					cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATGAACTCCAGTCCTTCAA	0.403																																						uc001tyg.2		NA																	0					0						c.(184-186)CTG>CTA		p53-inducible cell-survival factor							228.0	229.0	228.0					12																	120882720		2203	4300	6503	SO:0001819	synonymous_variant	51499				anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding	g.chr12:120882720C>T		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787	ENST00000546954.1:c.186G>A	12.37:g.120882720C>T						GATC_uc010szi.1_5'Flank	p.L62L	NM_016399	NP_057483	O43715	TRIA1_HUMAN			2	226	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		62					B2R4Z7|Q5RKS5|Q6LCA7	Silent	SNP	ENST00000546954.1	37	c.186G>A	CCDS9198.1																																																																																				0.403	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		32	156	0	0	0	0	32	156				
CLIP1	6249	broad.mit.edu	37	12	122794385	122794385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:122794385G>T	ENST00000540338.1	-	19	3559	c.3518C>A	c.(3517-3519)tCa>tAa	p.S1173*	CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S748*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.S1162*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S1051*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S1127*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S1162*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1173					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCAACGCTGAAAGCTGCTG	0.507																																						uc001ucg.1		NA																	0				ovary(2)|breast(1)	3						c.(3517-3519)TCA>TAA		restin isoform a							116.0	87.0	97.0					12																	122794385		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122794385G>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3518C>A	12.37:g.122794385G>T	ENSP00000439093:p.Ser1173*					CLIP1_uc001uch.1_Nonsense_Mutation_p.S1162*|CLIP1_uc001uci.1_Nonsense_Mutation_p.S1127*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.S748*	p.S1173*	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	19	3624	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1173			Potential.		A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.3518C>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	43	10.067430	0.99329	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	5.82	4.92	0.64577	.	1.085200	0.06879	N	0.802165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-1.0861	10.9252	0.47187	0.0678:0.0:0.8019:0.1303	.	.	.	.	X	748;1162;1162;892;204;1127;1173	.	ENSP00000303585:S1162X	S	-	2	0	CLIP1	121360338	1.000000	0.71417	0.694000	0.30210	0.996000	0.88848	5.710000	0.68392	1.470000	0.48102	0.650000	0.86243	TCA		0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		19	39	1	0	6.94e-10	7.53e-10	19	39				
DIAPH3	81624	broad.mit.edu	37	13	60557957	60557957	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr13:60557957C>A	ENST00000400324.4	-	13	1646	c.1426G>T	c.(1426-1428)Gat>Tat	p.D476Y	DIAPH3_ENST00000377908.2_Missense_Mutation_p.D465Y|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D406Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D476Y|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D476Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D430Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	476	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAGTCTGGATCCATTCCATCT	0.294																																						uc001vht.2		NA																	0				ovary(2)	2						c.(1426-1428)GAT>TAT		diaphanous homolog 3 isoform a							112.0	107.0	109.0					13																	60557957		1830	4077	5907	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60557957C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1426G>T	13.37:g.60557957C>A	ENSP00000383178:p.Asp476Tyr					DIAPH3_uc001vhu.2_Missense_Mutation_p.D213Y|DIAPH3_uc001vhv.2_Missense_Mutation_p.D54Y	p.D476Y	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	13	1645	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	476			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1426G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647894	0.87958	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-1.97;-2.56	5.82	5.82	0.92795	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.93763	3.455	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	0.96658	0.9487	10	0.87932	D	0	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	213;213;476	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Y	476;476;465;430;406;465;406;430;476;213;476	ENSP00000383178:D476Y;ENSP00000383184:D476Y;ENSP00000367141:D465Y;ENSP00000383173:D406Y;ENSP00000383174:D430Y;ENSP00000267215:D476Y	ENSP00000267214:D213Y	D	-	1	0	DIAPH3	59455958	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.756000	0.94617	0.563000	0.77884	GAT		0.294	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		31	68	1	0	3.04e-20	3.35e-20	31	68				
NGDN	25983	broad.mit.edu	37	14	23945265	23945265	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:23945265G>A	ENST00000408901.3	+	7	476	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	NGDN_ENST00000397154.3_Missense_Mutation_p.E150K|NGDN_ENST00000556580.1_5'Flank	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	150	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAGGAAGATGAAGCAGAAGA	0.423																																						uc001wjy.2		NA																	0					0						c.(448-450)GAA>AAA		neuroguidin isoform 1							102.0	102.0	102.0					14																	23945265		2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945265G>A	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.448G>A	14.37:g.23945265G>A	ENSP00000386134:p.Glu150Lys					NGDN_uc001wjz.2_Missense_Mutation_p.E150K|NGDN_uc001wka.2_5'Flank	p.E150K	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	475	+	all_cancers(95;0.000251)		150			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.448G>A	CCDS41926.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481097	0.26598	.	.	ENSG00000129460	ENST00000408901;ENST00000397154;ENST00000555128	T;T	0.35236	1.32;1.32	5.89	5.0	0.66597	.	0.246987	0.46758	D	0.000262	T	0.23094	0.0558	N	0.19112	0.55	0.80722	D	1	B;B	0.33379	0.372;0.41	B;B	0.32677	0.15;0.071	T	0.04065	-1.0980	10	0.10636	T	0.68	-8.6696	14.5262	0.67890	0.0:0.2786:0.7214:0.0	.	150;150	Q8NEJ9-2;Q8NEJ9	.;NGDN_HUMAN	K	150;150;125	ENSP00000386134:E150K;ENSP00000380340:E150K	ENSP00000380340:E150K	E	+	1	0	NGDN	23015105	1.000000	0.71417	0.995000	0.50966	0.232000	0.25224	3.785000	0.55424	1.486000	0.48398	0.563000	0.77884	GAA		0.423	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		5	61	0	0	0	0	5	61				
RIN3	79890	broad.mit.edu	37	14	93118912	93118912	+	Silent	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:93118912T>A	ENST00000216487.7	+	6	1677	c.1518T>A	c.(1516-1518)tcT>tcA	p.S506S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	506	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTGCTTCTCAGGCTGGGA	0.652																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(1516-1518)TCT>TCA		Ras and Rab interactor 3							43.0	51.0	48.0					14																	93118912		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118912T>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1518T>A	14.37:g.93118912T>A						RIN3_uc010auk.2_Silent_p.S168S|RIN3_uc001yaq.2_Silent_p.S431S|RIN3_uc001yar.1_Silent_p.S168S|RIN3_uc001yas.1_Silent_p.S168S	p.S506S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	1670	+		all_cancers(154;0.0701)	506			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.1518T>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	T	6.347	0.432059	0.12045	.	.	ENSG00000100599	ENST00000556418	T	0.23348	1.91	4.49	-1.45	0.08828	.	0.949207	0.08715	N	0.904363	T	0.15349	0.0370	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.34329	-0.9833	6	.	.	.	-0.4203	4.0461	0.09773	0.1048:0.2094:0.4706:0.2153	.	.	.	.	T	23	ENSP00000450986:S23T	.	S	+	1	0	RIN3	92188665	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.195000	0.09546	-0.258000	0.09446	-1.430000	0.01095	TCA		0.652	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			20	40	0	0	0	0	20	40				
ATG2B	55102	broad.mit.edu	37	14	96807957	96807957	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:96807957C>T	ENST00000359933.4	-	6	1719	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	276					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTGCTATCTCTGGTAAATTT	0.438																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(826-828)GAG>AAG		ATG2 autophagy related 2 homolog B							135.0	129.0	131.0					14																	96807957		1883	4115	5998	SO:0001583	missense	55102							g.chr14:96807957C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.826G>A	14.37:g.96807957C>T	ENSP00000353010:p.Glu276Lys						p.E276K	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1191	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	276					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.826G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017329	0.93404	.	.	ENSG00000066739	ENST00000359933	T	0.10099	2.91	6.04	6.04	0.98038	.	0.451574	0.20450	U	0.092106	T	0.09468	0.0233	N	0.19112	0.55	0.43517	D	0.995787	P	0.49090	0.919	B	0.38803	0.282	T	0.23190	-1.0195	10	0.34782	T	0.22	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	276	Q96BY7	ATG2B_HUMAN	K	276	ENSP00000353010:E276K	ENSP00000353010:E276K	E	-	1	0	ATG2B	95877710	0.999000	0.42202	0.712000	0.30502	0.986000	0.74619	3.728000	0.54991	2.873000	0.98535	0.563000	0.77884	GAG		0.438	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		16	82	0	0	0	0	16	82				
AHNAK2	113146	broad.mit.edu	37	14	105418065	105418066	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105418065_105418066GC>AA	ENST00000333244.5	-	7	3841_3842	c.3722_3723GC>TT	c.(3721-3723)gGC>gTT	p.G1241V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1241						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTTTGAAGCCGGCTCCCTC	0.639																																						uc010axc.1		NA																	0				ovary(1)	1						c.(3721-3723)GGC>GTT		AHNAK nucleoprotein 2																																				SO:0001583	missense	113146					nucleus		g.chr14:105418065_105418066GC>AA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3722_3723delinsAA	14.37:g.105418065_105418066delinsAA	ENSP00000353114:p.Gly1241Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.G1141V	p.G1241V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3842_3843	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1241					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	DNP	ENST00000333244.5	37	c.3722_3723GC>TT	CCDS45177.1																																																																																				0.639	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		78	36	0	0	0	0	78	36				
MKRN3	7681	broad.mit.edu	37	15	23812217	23812217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:23812217C>A	ENST00000314520.3	+	1	1764	c.1288C>A	c.(1288-1290)Cct>Act	p.P430T	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	430					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGAGATGAGCCTCCTGGGCC	0.522																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(1288-1290)CCT>ACT		makorin ring finger protein 3							92.0	87.0	89.0					15																	23812217		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812217C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1288C>A	15.37:g.23812217C>A	ENSP00000313881:p.Pro430Thr					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	p.P430T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1764	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	430						Missense_Mutation	SNP	ENST00000314520.3	37	c.1288C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075821	0.20227	.	.	ENSG00000179455	ENST00000314520	T	0.34472	1.36	3.22	1.27	0.21489	.	0.250588	0.31976	N	0.006774	T	0.32406	0.0828	M	0.80508	2.5	0.40292	D	0.978518	P	0.43750	0.816	B	0.34093	0.175	T	0.27739	-1.0065	10	0.66056	D	0.02	.	7.5573	0.27831	0.0:0.7722:0.0:0.2278	.	430	Q13064	MKRN3_HUMAN	T	430	ENSP00000313881:P430T	ENSP00000313881:P430T	P	+	1	0	MKRN3	21363310	0.000000	0.05858	0.009000	0.14445	0.115000	0.19883	-0.001000	0.12947	0.372000	0.24591	0.655000	0.94253	CCT		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		15	46	1	0	5.01e-05	5.3e-05	15	46				
LCMT2	9836	broad.mit.edu	37	15	43622164	43622164	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:43622164G>A	ENST00000305641.5	-	1	639	c.524C>T	c.(523-525)gCg>gTg	p.A175V	LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	175					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTCGAGCCCCGCGGCGCCCAG	0.716																																						uc001zrg.2		NA																	0					0						c.(523-525)GCG>GTG		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						21.0	26.0	24.0					15																	43622164		2192	4290	6482	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622164G>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.524C>T	15.37:g.43622164G>A	ENSP00000307214:p.Ala175Val					LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.A175V	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	728	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	175					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.524C>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555704	0.27827	.	.	ENSG00000168806	ENST00000305641	T	0.26660	1.72	5.54	5.54	0.83059	.	0.057943	0.64402	D	0.000002	T	0.27134	0.0665	M	0.64676	1.99	0.80722	D	1	B	0.24043	0.096	B	0.21151	0.033	T	0.02991	-1.1085	10	0.19147	T	0.46	-20.7482	14.8575	0.70351	0.0:0.0:1.0:0.0	.	175	O60294	LCMT2_HUMAN	V	175	ENSP00000307214:A175V	ENSP00000307214:A175V	A	-	2	0	LCMT2	41409456	0.802000	0.28943	0.180000	0.23079	0.013000	0.08279	6.152000	0.71812	2.884000	0.98904	0.655000	0.94253	GCG		0.716	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		23	28	0	0	0	0	23	28				
GNB5	10681	broad.mit.edu	37	15	52446255	52446255	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:52446255C>T	ENST00000261837.7	-	4	322	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	GNB5_ENST00000358784.7_Missense_Mutation_p.R44Q|GNB5_ENST00000396335.4_Missense_Mutation_p.R44Q|GNB5_ENST00000560116.1_Missense_Mutation_p.R44Q	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	86					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.R86Q(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCCTCCACCCGCTCCGCCAC	0.562																																						uc002abt.1		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(1)	1						c.(256-258)CGG>CAG		guanine nucleotide-binding protein, beta-5							90.0	76.0	81.0					15																	52446255		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52446255C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.257G>A	15.37:g.52446255C>T	ENSP00000261837:p.Arg86Gln					GNB5_uc002abr.1_Missense_Mutation_p.R44Q|GNB5_uc002abs.1_Missense_Mutation_p.R44Q|GNB5_uc002abu.3_Missense_Mutation_p.R44Q	p.R86Q	NM_016194	NP_057278	O14775	GBB5_HUMAN		all cancers(107;0.0163)	4	322	-			86					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.257G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836111	0.50951	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	T;T;T	0.57595	5.04;0.39;5.04	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055940	0.64402	D	0.000001	T	0.39733	0.1089	L	0.38175	1.15	0.58432	D	0.999996	D;B;B	0.60575	0.988;0.154;0.379	B;B;B	0.33339	0.162;0.006;0.077	T	0.35525	-0.9785	10	0.26408	T	0.33	-28.5649	19.5436	0.95283	0.0:1.0:0.0:0.0	.	44;86;44	Q96F32;O14775;O14775-3	.;GBB5_HUMAN;.	Q	86;44;44	ENSP00000261837:R86Q;ENSP00000379626:R44Q;ENSP00000351635:R44Q	ENSP00000261837:R86Q	R	-	2	0	GNB5	50233547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.826000	0.69293	2.608000	0.88229	0.558000	0.71614	CGG		0.562	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			9	29	0	0	0	0	9	29				
MYO5A	4644	broad.mit.edu	37	15	52609388	52609388	+	Missense_Mutation	SNP	G	G	C	rs369584772		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:52609388G>C	ENST00000399231.3	-	39	5434	c.5191C>G	c.(5191-5193)Cgt>Ggt	p.R1731G	MYO5A_ENST00000358212.6_Missense_Mutation_p.R1756G|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1729G|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1704G|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1728G	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1731	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCTTGTCACGCAGCCATTCT	0.368																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(5191-5193)CGT>GGT		myosin VA isoform 1							96.0	88.0	90.0					15																	52609388		1852	4099	5951	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52609388G>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5191C>G	15.37:g.52609388G>C	ENSP00000382177:p.Arg1731Gly					MYO5A_uc002abx.3_Missense_Mutation_p.R1704G|MYO5A_uc010ugd.1_Missense_Mutation_p.R453G	p.R1731G	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	39	5435	-			1731			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.5191C>G	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659480	0.67586	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.88201	-2.31;-2.31;-2.34;-2.35;-2.3	5.75	5.75	0.90469	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.95617	0.8575	M	0.89968	3.075	0.80722	D	1	P;D;P	0.63880	0.926;0.993;0.839	P;D;B	0.66716	0.77;0.946;0.203	D	0.95855	0.8878	10	0.87932	D	0	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	461;1731;1704	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	G	1731;1238;1728;1704;1756;1334;1729	ENSP00000382177:R1731G;ENSP00000382179:R1728G;ENSP00000348693:R1704G;ENSP00000350945:R1756G;ENSP00000451109:R1729G	ENSP00000348693:R1704G	R	-	1	0	MYO5A	50396680	0.995000	0.38212	0.992000	0.48379	0.995000	0.86356	3.454000	0.52986	2.717000	0.92951	0.585000	0.79938	CGT		0.368	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	50	0	0	0	0	7	50				
LMAN1L	79748	broad.mit.edu	37	15	75105240	75105240	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:75105240C>G	ENST00000309664.5	+	1	184	c.45C>G	c.(43-45)ctC>ctG	p.L15L	LMAN1L_ENST00000379709.3_Silent_p.L15L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	15						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTTCTCCTCCTGCTCCTGG	0.632																																						uc002ayt.1		NA																	0					0						c.(43-45)CTC>CTG		lectin, mannose-binding, 1 like precursor							118.0	107.0	111.0					15																	75105240		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75105240C>G	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.45C>G	15.37:g.75105240C>G						LMAN1L_uc010bkd.2_Intron|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.L15L	p.L15L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			1	47	+			15					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.45C>G	CCDS10270.1																																																																																				0.632	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			33	60	0	0	0	0	33	60				
LMAN1L	79748	broad.mit.edu	37	15	75105354	75105354	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:75105354C>T	ENST00000309664.5	+	1	298	c.159C>T	c.(157-159)ttC>ttT	p.F53F	LMAN1L_ENST00000379709.3_Silent_p.F53F	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	53	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAATACCCTTCTGGAGCCATC	0.617																																						uc002ayt.1		NA																	0					0						c.(157-159)TTC>TTT		lectin, mannose-binding, 1 like precursor							61.0	60.0	60.0					15																	75105354		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75105354C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.159C>T	15.37:g.75105354C>T						LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Silent_p.F53F	p.F53F	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			1	161	+			53			Lumenal (Potential).|L-type lectin-like.		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.159C>T	CCDS10270.1																																																																																				0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			23	31	0	0	0	0	23	31				
FURIN	5045	broad.mit.edu	37	15	91422758	91422758	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:91422758C>G	ENST00000268171.3	+	10	1417	c.1138C>G	c.(1138-1140)Ctc>Gtc	p.L380V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	380	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATCATTGCTCTCACCCTGGA	0.627																																						uc002bpu.1		NA																	0				central_nervous_system(4)|lung(2)|breast(1)	7						c.(1138-1140)CTC>GTC		furin preproprotein							47.0	46.0	46.0					15																	91422758		2198	4298	6496	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91422758C>G	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1138C>G	15.37:g.91422758C>G	ENSP00000268171:p.Leu380Val						p.L380V	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		10	1354	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		380					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1138C>G	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873582	0.72180	.	.	ENSG00000140564	ENST00000268171	D	0.85861	-2.04	4.2	4.2	0.49525	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.96395	0.9292	10	0.87932	D	0	-22.5677	16.8077	0.85710	0.0:1.0:0.0:0.0	.	380	P09958	FURIN_HUMAN	V	380	ENSP00000268171:L380V	ENSP00000268171:L380V	L	+	1	0	FURIN	89223762	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.823000	0.69272	2.164000	0.68074	0.555000	0.69702	CTC		0.627	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		4	31	0	0	0	0	4	31				
ST8SIA2	8128	broad.mit.edu	37	15	92981732	92981732	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:92981732C>T	ENST00000268164.3	+	4	677	c.440C>T	c.(439-441)tCg>tTg	p.S147L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.S126L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	147					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCAGGACTTCGCCACTGAAG	0.537																																						uc002bra.2		NA																	0					0						c.(439-441)TCG>TTG		ST8 alpha-N-acetyl-neuraminide							117.0	113.0	114.0					15																	92981732		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981732C>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.440C>T	15.37:g.92981732C>T	ENSP00000268164:p.Ser147Leu					ST8SIA2_uc002brb.2_Missense_Mutation_p.S126L	p.S147L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	595	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		147			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.440C>T	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886589	0.91814	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.29142	1.58;1.58;1.58	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.59867	-0.7373	10	0.56958	D	0.05	-4.5169	18.3792	0.90444	0.0:1.0:0.0:0.0	.	126;147	C6G488;Q92186	.;SIA8B_HUMAN	L	147;126;104	ENSP00000268164:S147L;ENSP00000437382:S126L;ENSP00000450851:S104L	ENSP00000268164:S147L	S	+	2	0	ST8SIA2	90782736	1.000000	0.71417	0.465000	0.27155	0.938000	0.57974	7.261000	0.78400	2.332000	0.79248	0.563000	0.77884	TCG		0.537	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		9	106	0	0	0	0	9	106				
KIAA0556	23247	broad.mit.edu	37	16	27720105	27720105	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:27720105C>T	ENST00000261588.4	+	13	1488	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	490						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGGGCAACTCGTGGTGGGTG	0.488																																						uc002dow.2		NA																	0		p.S490S(1)		ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1468-1470)TCG>TTG		hypothetical protein LOC23247							109.0	96.0	101.0					16																	27720105		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27720105C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1469C>T	16.37:g.27720105C>T	ENSP00000261588:p.Ser490Leu					KIAA0556_uc002dox.1_Missense_Mutation_p.S398L	p.S490L	NM_015202	NP_056017	O60303	K0556_HUMAN			13	1493	+			490					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1469C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466081	0.26335	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.13778	2.56	5.49	3.41	0.39046	.	1.284590	0.05115	N	0.489669	T	0.08980	0.0222	N	0.14661	0.345	0.09310	N	1	B;B	0.27700	0.008;0.186	B;B	0.19148	0.004;0.024	T	0.25467	-1.0131	10	0.30854	T	0.27	-3.2659	8.0467	0.30553	0.2394:0.6721:0.0:0.0885	.	398;490	Q8N803;O60303	.;K0556_HUMAN	L	490;397	ENSP00000261588:S490L	ENSP00000261588:S490L	S	+	2	0	KIAA0556	27627606	0.000000	0.05858	0.001000	0.08648	0.752000	0.42762	0.341000	0.19909	1.315000	0.45114	0.462000	0.41574	TCG		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		7	59	0	0	0	0	7	59				
SLC5A2	6524	broad.mit.edu	37	16	31498885	31498885	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:31498885C>G	ENST00000330498.3	+	7	709	c.690C>G	c.(688-690)ttC>ttG	p.F230L	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	230					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CGGGTCTCTTCGACAAATACC	0.652																																						uc002ecf.3		NA																	0				ovary(1)	1						c.(688-690)TTC>TTG		solute carrier family 5 (sodium/glucose							65.0	66.0	66.0					16																	31498885		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31498885C>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.690C>G	16.37:g.31498885C>G	ENSP00000327943:p.Phe230Leu					SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.F230L	NM_003041	NP_003032	P31639	SC5A2_HUMAN			7	709	+			230			Extracellular (Potential).		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.690C>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506335	0.44558	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.87887	-2.31;-2.31	4.14	0.886	0.19194	.	0.075029	0.56097	D	0.000037	T	0.67439	0.2893	N	0.11756	0.17	0.36191	D	0.850054	B	0.09022	0.002	B	0.13407	0.009	T	0.52859	-0.8519	10	0.10636	T	0.68	.	3.3284	0.07075	0.0:0.4324:0.2051:0.3624	.	230	P31639	SC5A2_HUMAN	L	230	ENSP00000327943:F230L;ENSP00000410601:F230L	ENSP00000327943:F230L	F	+	3	2	SLC5A2	31406386	0.508000	0.26154	1.000000	0.80357	0.909000	0.53808	-0.219000	0.09228	0.415000	0.25817	0.462000	0.41574	TTC		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			4	85	0	0	0	0	4	85				
CAPNS2	84290	broad.mit.edu	37	16	55601232	55601232	+	Silent	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:55601232A>G	ENST00000457326.2	+	1	649	c.564A>G	c.(562-564)caA>caG	p.Q188Q	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	188	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TAAATGAACAACTTTACCAAA	0.483																																						uc002eid.1		NA																	0					0						c.(562-564)CAA>CAG		calpain small subunit 2							137.0	135.0	136.0					16																	55601232		1892	4108	6000	SO:0001819	synonymous_variant	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601232A>G	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.564A>G	16.37:g.55601232A>G						LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	p.Q188Q	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN			1	649	+			188			EF-hand 3.		Q9BPV4	Silent	SNP	ENST00000457326.2	37	c.564A>G	CCDS54010.1																																																																																				0.483	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		47	88	0	0	0	0	47	88				
ATMIN	23300	broad.mit.edu	37	16	81077197	81077197	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:81077197G>C	ENST00000299575.4	+	4	1118	c.1094G>C	c.(1093-1095)aGc>aCc	p.S365T	ATMIN_ENST00000566488.1_Missense_Mutation_p.S209T|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.S209T	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	365	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTTAAGGAGAGCCTACCTCTT	0.458																																						uc002ffz.1		NA																	0					0						c.(1093-1095)AGC>ACC		ATM interactor							50.0	50.0	50.0					16																	81077197		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077197G>C	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1094G>C	16.37:g.81077197G>C	ENSP00000299575:p.Ser365Thr					ATMIN_uc002fga.2_Missense_Mutation_p.S207T|ATMIN_uc010vnn.1_Missense_Mutation_p.S136T|ATMIN_uc002fgb.1_Missense_Mutation_p.S207T	p.S365T	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	1112	+			365			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1094G>C	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	1.550	-0.539375	0.04053	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02787	4.16	6.17	4.14	0.48551	.	0.326848	0.39615	N	0.001307	T	0.03915	0.0110	L	0.52573	1.65	0.09310	N	0.999995	B	0.17852	0.024	B	0.14023	0.01	T	0.32666	-0.9898	10	0.37606	T	0.19	-13.5765	10.951	0.47330	0.0:0.2991:0.4801:0.2207	.	365	O43313	ATMIN_HUMAN	T	365;136	ENSP00000299575:S365T	ENSP00000299575:S365T	S	+	2	0	ATMIN	79634698	0.995000	0.38212	1.000000	0.80357	0.251000	0.25915	2.377000	0.44300	0.856000	0.35383	0.655000	0.94253	AGC		0.458	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		9	52	0	0	0	0	9	52				
FANCA	2175	broad.mit.edu	37	16	89849296	89849296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:89849296C>T	ENST00000389301.3	-	17	1627	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	FANCA_ENST00000568369.1_Missense_Mutation_p.D533N	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	533					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GATGACAAATCCTCGTAGAGT	0.488			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NA	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1597-1599)GAT>AAT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							71.0	67.0	69.0					16																	89849296		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89849296C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1597G>A	16.37:g.89849296C>T	ENSP00000373952:p.Asp533Asn					FANCA_uc010vpn.1_Missense_Mutation_p.D533N	p.D533N	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	17	1639	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	533					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.1597G>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170816	0.78452	.	.	ENSG00000187741	ENST00000389301	D	0.86366	-2.11	5.62	3.65	0.41850	.	0.179117	0.38778	N	0.001579	D	0.92024	0.7473	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	D	0.91376	0.5123	10	0.62326	D	0.03	-13.806	10.588	0.45294	0.0:0.7944:0.1337:0.0719	.	533;533	B4DRI7;O15360	.;FANCA_HUMAN	N	533	ENSP00000373952:D533N	ENSP00000373952:D533N	D	-	1	0	FANCA	88376797	1.000000	0.71417	0.800000	0.32199	0.907000	0.53573	2.174000	0.42482	0.743000	0.32719	0.549000	0.68633	GAT		0.488	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			7	40	0	0	0	0	7	40				
ACADVL	37	broad.mit.edu	37	17	7127131	7127131	+	Splice_Site	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:7127131G>A	ENST00000356839.5	+	13	1448		c.e13-1		MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Splice_Site|ACADVL_ENST00000543245.2_Splice_Site	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGTCCCTAGGAGGCAGCCT	0.557																																						uc002gev.2		NA																	0				ovary(3)	3						c.e13-1		acyl-Coenzyme A dehydrogenase, very long chain							79.0	79.0	79.0					17																	7127131		2203	4300	6503	SO:0001630	splice_region_variant	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7127131G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1270-1G>A	17.37:g.7127131G>A						ACADVL_uc010vtp.1_Splice_Site_p.E434_splice|ACADVL_uc002gew.2_Splice_Site_p.E402_splice|ACADVL_uc002gex.2_Splice_Site_p.E348_splice|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank	p.E424_splice	NM_000018	NP_000009	P49748	ACADV_HUMAN			13	1421	+								B4DEB6|F5H2A9|O76056|Q8WUL0	Splice_Site	SNP	ENST00000356839.5	37	c.1270_splice	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243790	0.39697	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2504	0.87041	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADVL	7067855	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	6.676000	0.74498	2.682000	0.91365	0.558000	0.71614	.		0.557	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018	Intron	24	48	0	0	0	0	24	48				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	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.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	43	0	0	0	0	24	43				
MFSD6L	162387	broad.mit.edu	37	17	8701980	8701980	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:8701980G>A	ENST00000329805.4	-	1	687	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	153						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GTGGGTTTCTGAAGCCAGGCA	0.582																																						uc002glp.1		NA																	0				central_nervous_system(1)	1						c.(457-459)TTC>TTT		major facilitator superfamily domain containing							94.0	100.0	98.0					17																	8701980		2203	4300	6503	SO:0001819	synonymous_variant	162387					integral to membrane		g.chr17:8701980G>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.459C>T	17.37:g.8701980G>A							p.F153F	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	607	-			153					Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	c.459C>T	CCDS11146.1																																																																																				0.582	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		11	93	0	0	0	0	11	93				
TVP23B	51030	broad.mit.edu	37	17	18694255	18694255	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:18694255A>G	ENST00000307767.8	+	3	441	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.I48V	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	48				I -> T (in Ref. 4; BAF83502). {ECO:0000305}.		integral component of membrane (GO:0016021)											AGTCAGTGCAATCATCGTCTA	0.393																																						uc002gum.2		NA																	0					0						c.(142-144)ATC>GTC		hypothetical protein LOC51030							201.0	198.0	199.0					17																	18694255		2203	4300	6503	SO:0001583	missense	51030					integral to membrane		g.chr17:18694255A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.142A>G	17.37:g.18694255A>G	ENSP00000305654:p.Ile48Val					FAM18B_uc002gun.2_5'UTR	p.I48V	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)	3	167	+			48	I -> T (in Ref. 4; BAF83502).		Helical; (Potential).		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	c.142A>G	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.007978	0.07773	.	.	ENSG00000171928	ENST00000307767	T	0.48201	0.82	3.76	2.67	0.31697	.	0.158031	0.53938	N	0.000051	T	0.32852	0.0843	L	0.41079	1.255	0.80722	D	1	B	0.06786	0.001	B	0.14578	0.011	T	0.08351	-1.0726	10	0.30078	T	0.28	-4.1126	5.0948	0.14727	0.7501:0.0:0.2499:0.0	.	48	Q9NYZ1	F18B1_HUMAN	V	48	ENSP00000305654:I48V	ENSP00000305654:I48V	I	+	1	0	FAM18B1	18634980	0.989000	0.36119	0.957000	0.39632	0.427000	0.31564	2.915000	0.48805	0.504000	0.28082	0.321000	0.21382	ATC		0.393	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		110	136	0	0	0	0	110	136				
MYO18A	399687	broad.mit.edu	37	17	27442707	27442707	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:27442707C>T	ENST00000527372.1	-	12	2382	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	MYO18A_ENST00000354329.4_Silent_p.E734E|MYO18A_ENST00000533112.1_Silent_p.E734E|MYO18A_ENST00000531253.1_Silent_p.E734E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	734	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E734D(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCCACTCTCCTCGGGGCCCT	0.642																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(2200-2202)GAG>GAA		myosin 18A isoform a							24.0	31.0	29.0					17																	27442707		2033	4185	6218	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27442707C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2202G>A	17.37:g.27442707C>T						MYO18A_uc010wbc.1_Silent_p.E276E|MYO18A_uc002hds.2_Silent_p.E276E|MYO18A_uc010csa.1_Silent_p.E734E|MYO18A_uc002hdu.1_Silent_p.E734E|MYO18A_uc010wbd.1_Silent_p.E403E	p.E734E	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		12	2360	-			734			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.2202G>A	CCDS45642.1																																																																																				0.642	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		7	6	0	0	0	0	7	6				
WNK4	65266	broad.mit.edu	37	17	40947834	40947834	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:40947834G>C	ENST00000246914.5	+	16	3235	c.3214G>C	c.(3214-3216)Gag>Cag	p.E1072Q	CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1072					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCTCTGGCTGAGAGCGACCG	0.607																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(3214-3216)GAG>CAG		WNK lysine deficient protein kinase 4							44.0	43.0	43.0					17																	40947834		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947834G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3214G>C	17.37:g.40947834G>C	ENSP00000246914:p.Glu1072Gln					WNK4_uc010wgx.1_Missense_Mutation_p.E736Q|CCDC56_uc010wgz.1_Missense_Mutation_p.Q142E	p.E1072Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3235	+		Breast(137;0.000143)	1072					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3214G>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338017	0.24253	.	.	ENSG00000126562	ENST00000246914	T	0.71934	-0.61	4.7	3.74	0.42951	.	0.000000	0.48286	D	0.000182	T	0.56963	0.2021	L	0.50333	1.59	0.80722	D	1	P;P	0.41848	0.763;0.454	B;B	0.39185	0.293;0.084	T	0.51702	-0.8672	10	0.16896	T	0.51	-15.9725	4.7444	0.13029	0.0819:0.1492:0.6149:0.1539	.	1072;1072	Q96J92-3;Q96J92	.;WNK4_HUMAN	Q	1072	ENSP00000246914:E1072Q	ENSP00000246914:E1072Q	E	+	1	0	WNK4	38201360	1.000000	0.71417	0.931000	0.37212	0.962000	0.63368	4.783000	0.62403	1.215000	0.43411	0.313000	0.20887	GAG		0.607	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			3	40	0	0	0	0	3	40				
SPPL2C	162540	broad.mit.edu	37	17	43923106	43923106	+	Silent	SNP	C	C	T	rs182389290	byFrequency	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:43923106C>T	ENST00000329196.5	+	1	851	c.834C>T	c.(832-834)gtC>gtT	p.V278V	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	278						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										ACCACTTTGTCTATGTCACCA	0.592																																						uc010wka.1		NA																	0				pancreas(2)	2						c.(832-834)GTC>GTT		intramembrane protease 5 precursor																																				SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923106C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.834C>T	17.37:g.43923106C>T						LOC100128977_uc010wjz.1_Intron	p.V278V	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	834	+	Colorectal(2;0.0416)		278			Helical; (Potential).		Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.834C>T	CCDS32673.1																																																																																				0.592	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		6	136	0	0	0	0	6	136				
XYLT2	64132	broad.mit.edu	37	17	48432263	48432263	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:48432263G>C	ENST00000017003.2	+	4	902	c.853G>C	c.(853-855)Gat>Cat	p.D285H	XYLT2_ENST00000507602.1_Missense_Mutation_p.D285H	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	285					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CCAGGGCTATGATAACGTGCG	0.642																																						uc002iqo.2		NA																	0				pancreas(1)	1						c.(853-855)GAT>CAT		xylosyltransferase II							59.0	57.0	57.0					17																	48432263		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48432263G>C	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.853G>C	17.37:g.48432263G>C	ENSP00000017003:p.Asp285His					XYLT2_uc010dbo.2_RNA	p.D285H	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			4	962	+	Breast(11;7.18e-19)		285			Lumenal (Potential).		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.853G>C	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801814	0.31869	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11821	2.74;2.74	4.62	4.62	0.57501	.	0.444513	0.24185	N	0.040776	T	0.12475	0.0303	L	0.31476	0.935	0.34582	D	0.714521	B	0.12013	0.005	B	0.22601	0.04	T	0.08932	-1.0698	10	0.66056	D	0.02	-4.7528	13.6479	0.62292	0.0:0.2033:0.7967:0.0	.	285	Q9H1B5	XYLT2_HUMAN	H	285	ENSP00000017003:D285H;ENSP00000426501:D285H	ENSP00000017003:D285H	D	+	1	0	XYLT2	45787262	0.986000	0.35501	0.191000	0.23289	0.727000	0.41649	3.678000	0.54627	2.403000	0.81681	0.313000	0.20887	GAT		0.642	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		7	86	0	0	0	0	7	86				
COLEC12	81035	broad.mit.edu	37	18	480723	480723	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:480723G>A	ENST00000400256.3	-	2	249	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	14					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTTGTAACCGAAGGATTGCA	0.552																																						uc002kkm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(40-42)TTC>TTT		collectin sub-family member 12							215.0	136.0	163.0					18																	480723		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:480723G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.42C>T	18.37:g.480723G>A							p.F14F	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			2	257	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	14			Cytoplasmic (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.42C>T	CCDS32782.1																																																																																				0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			12	49	0	0	0	0	12	49				
DSG2	1829	broad.mit.edu	37	18	29104495	29104495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:29104495C>T	ENST00000261590.8	+	7	984	c.775C>T	c.(775-777)Cag>Tag	p.Q259*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	259	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGCTCAAGTTCAGATTCGTAT	0.343																																						uc002kwu.3		NA																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(775-777)CAG>TAG		desmoglein 2 preproprotein							105.0	98.0	100.0					18																	29104495		1877	4116	5993	SO:0001587	stop_gained	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29104495C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.775C>T	18.37:g.29104495C>T	ENSP00000261590:p.Gln259*						p.Q259*	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		7	963	+			259			Extracellular (Potential).|Cadherin 2.		Q4KKU6	Nonsense_Mutation	SNP	ENST00000261590.8	37	c.775C>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	38	6.749175	0.97809	.	.	ENSG00000046604	ENST00000261590	.	.	.	5.67	4.79	0.61399	.	0.103244	0.43416	D	0.000570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	6.1157	0.20126	0.1314:0.6504:0.1433:0.0749	.	.	.	.	X	259	.	ENSP00000261590:Q259X	Q	+	1	0	DSG2	27358493	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	1.125000	0.31332	2.836000	0.97738	0.655000	0.94253	CAG		0.343	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		5	35	0	0	0	0	5	35				
CDH20	28316	broad.mit.edu	37	18	59221721	59221721	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:59221721C>T	ENST00000262717.4	+	12	2597	c.2199C>T	c.(2197-2199)gcC>gcT	p.A733A	CDH20_ENST00000538374.1_Silent_p.A733A|CDH20_ENST00000536675.2_Silent_p.A733A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCTACGAGGCCGACATGGACC	0.642																																						uc010dps.1		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(2197-2199)GCC>GCT		cadherin 20, type 2 preproprotein							39.0	31.0	34.0					18																	59221721		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221721C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2199C>T	18.37:g.59221721C>T						CDH20_uc002lif.2_Silent_p.A727A	p.A733A	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	2211	+		Colorectal(73;0.186)	733			Cytoplasmic (Potential).		Q495S3	Silent	SNP	ENST00000262717.4	37	c.2199C>T	CCDS11977.1																																																																																				0.642	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		3	33	0	0	0	0	3	33				
MAP2K2	5605	broad.mit.edu	37	19	4101137	4101137	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:4101137C>G	ENST00000262948.5	-	6	838	c.585G>C	c.(583-585)gtG>gtC	p.V195V	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.V98V	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	TGGAGGGCTTCACATCTGGAG	0.662																																						uc002lzk.2		NA																	0					0						c.(583-585)GTG>GTC		mitogen-activated protein kinase kinase 2							51.0	38.0	43.0					19																	4101137		2202	4300	6502	SO:0001819	synonymous_variant	5605	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4101137C>G	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.585G>C	19.37:g.4101137C>G						MAP2K2_uc002lzj.2_Silent_p.V5V	p.V195V	NM_030662	NP_109587	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	6	839	-		Hepatocellular(1079;0.137)	195			Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.585G>C	CCDS12120.1																																																																																				0.662	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			6	13	0	0	0	0	6	13				
CATSPERD	257062	broad.mit.edu	37	19	5754220	5754220	+	Silent	SNP	G	G	A	rs553271657		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:5754220G>A	ENST00000381624.3	+	13	1303	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.S72S	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	414					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TGACTGCTTCGTTGATACCCC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17883	0.0		0.0	False		,,,				2504	0.0					uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1240-1242)TCG>TCA		transmembrane protein 146 precursor							158.0	160.0	159.0					19																	5754220		1977	4171	6148	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5754220G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1242G>A	19.37:g.5754220G>A						TMEM146_uc010duj.1_Silent_p.S72S	p.S414S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			13	1303	+			414			Extracellular (Potential).		Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1242G>A	CCDS12149.2																																																																																				0.453	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		41	88	0	0	0	0	41	88				
ACER1	125981	broad.mit.edu	37	19	6309843	6309843	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:6309843G>A	ENST00000301452.4	-	4	430	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	118					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GATGAACTGGGACCTGGGGAG	0.617																																						uc002mel.2		NA																	0					0						c.(352-354)TCC>TTC		alkaline ceramidase 1							87.0	66.0	73.0					19																	6309843		2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309843G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.353C>T	19.37:g.6309843G>A	ENSP00000301452:p.Ser118Phe						p.S118F	NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN			4	431	-			118			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000301452.4	37	c.353C>T	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	G	2.099	-0.406415	0.04832	.	.	ENSG00000167769	ENST00000301452	T	0.43294	0.95	4.28	-4.18	0.03846	.	1.597090	0.03506	N	0.218854	T	0.25306	0.0615	L	0.38531	1.155	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.12041	-1.0563	10	0.09338	T	0.73	-0.3317	1.8487	0.03164	0.4579:0.1348:0.2706:0.1367	.	118	Q8TDN7	ACER1_HUMAN	F	118	ENSP00000301452:S118F	ENSP00000301452:S118F	S	-	2	0	ACER1	6260843	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.188000	0.09642	-1.168000	0.02776	-0.321000	0.08615	TCC		0.617	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		6	32	0	0	0	0	6	32				
MYO1F	4542	broad.mit.edu	37	19	8618294	8618294	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:8618294C>G	ENST00000338257.8	-	5	621	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	118	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATTTGGCTGCCACTGTCTTCC	0.517																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(352-354)GTG>GTC		myosin IF							87.0	88.0	88.0					19																	8618294		2186	4293	6479	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8618294C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.354G>C	19.37:g.8618294C>G						MYO1F_uc002mkh.2_Silent_p.V118V|MYO1F_uc010xkf.1_Silent_p.V118V	p.V118V	NM_012335	NP_036467	O00160	MYO1F_HUMAN			5	468	-			118			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.354G>C	CCDS42494.1																																																																																				0.517	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			6	87	0	0	0	0	6	87				
ZNF266	10781	broad.mit.edu	37	19	9528555	9528555	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:9528555A>T	ENST00000592904.1	-	3	2140	c.64T>A	c.(64-66)Tct>Act	p.S22T	ZNF266_ENST00000588933.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588221.1_Missense_Mutation_p.S22T|ZNF266_ENST00000592292.1_Missense_Mutation_p.S22T|ZNF266_ENST00000590306.1_Missense_Mutation_p.S22T|ZNF266_ENST00000361451.2_Missense_Mutation_p.S22T|ZNF266_ENST00000361151.1_Missense_Mutation_p.S22T			Q14584	ZN266_HUMAN	zinc finger protein 266	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCCAGCCAAGAGATCAGACTG	0.438																																						uc002mll.2		NA																	0				ovary(1)	1						c.(64-66)TCT>ACT		zinc finger protein 266							193.0	185.0	188.0					19																	9528555		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9528555A>T	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.64T>A	19.37:g.9528555A>T	ENSP00000466714:p.Ser22Thr					ZNF266_uc002mlm.2_Missense_Mutation_p.S22T|ZNF266_uc002mln.2_Missense_Mutation_p.S22T|ZNF266_uc002mlo.2_Missense_Mutation_p.S22T|ZNF266_uc010dwp.2_Missense_Mutation_p.S22T|ZNF266_uc010dwq.2_Missense_Mutation_p.S22T	p.S22T	NM_198058	NP_932175	Q14584	ZN266_HUMAN			2	330	-			22			KRAB.		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.64T>A	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676562	0.67928	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.00856	5.61;5.61	2.41	1.35	0.21983	Krueppel-associated box (2);	.	.	.	.	T	0.01254	0.0041	L	0.33624	1.015	0.09310	N	1	D	0.54772	0.968	P	0.52424	0.698	T	0.50162	-0.8860	9	0.13470	T	0.59	.	5.4897	0.16769	0.6704:0.3296:0.0:0.0	.	22	Q14584	ZN266_HUMAN	T	22	ENSP00000354680:S22T;ENSP00000355047:S22T	ENSP00000355047:S22T	S	-	1	0	ZNF266	9389555	0.009000	0.17119	0.009000	0.14445	0.969000	0.65631	0.438000	0.21559	0.351000	0.24027	0.482000	0.46254	TCT		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			61	111	0	0	0	0	61	111				
HOOK2	29911	broad.mit.edu	37	19	12878702	12878702	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:12878702G>A	ENST00000397668.3	-	13	1304	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HOOK2_ENST00000264827.5_Missense_Mutation_p.R411W|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	411	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AAGGAGTCCCGCTCCGCCAAC	0.677																																						uc002muy.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1231-1233)CGG>TGG		hook homolog 2 isoform 1							27.0	31.0	30.0					19																	12878702		1940	4122	6062	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878702G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1231C>T	19.37:g.12878702G>A	ENSP00000380785:p.Arg411Trp					HOOK2_uc010xmq.1_5'Flank|HOOK2_uc002muz.2_Missense_Mutation_p.R411W	p.R411W	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			13	1402	-			411			Sufficient for interaction with microtubules.|Potential.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1231C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657900	0.67586	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.26810	1.71;1.71	5.61	-0.882	0.10604	.	0.060293	0.64402	D	0.000004	T	0.52645	0.1747	M	0.85630	2.765	0.47737	D	0.999509	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62581	-0.6824	10	0.87932	D	0	-41.775	16.1063	0.81225	0.0:0.0:0.4421:0.5579	.	411;411	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	W	411	ENSP00000380785:R411W;ENSP00000264827:R411W	ENSP00000264827:R411W	R	-	1	2	HOOK2	12739702	0.989000	0.36119	0.891000	0.34965	0.773000	0.43773	0.846000	0.27682	-0.297000	0.08934	-1.411000	0.01122	CGG		0.677	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		21	22	0	0	0	0	21	22				
CYP4F8	11283	broad.mit.edu	37	19	15728925	15728925	+	RNA	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:15728925G>C	ENST00000441682.2	+	0	377							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GTGCCACCCTGACATCGTCCG	0.577																																						uc002nbi.2		NA																	0				large_intestine(1)	1						c.(313-315)GAC>CAC		cytochrome P450, family 4, subfamily F,							141.0	147.0	145.0					19																	15728925		2187	4299	6486			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728925G>C	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728925G>C						CYP4F8_uc010xoi.1_Missense_Mutation_p.D105H|CYP4F8_uc010xoj.1_Intron	p.D105H	NM_007253	NP_009184	P98187	CP4F8_HUMAN			3	377	+			105						Missense_Mutation	SNP	ENST00000441682.2	37	c.313G>C		.	.	.	.	.	.	.	.	.	.	.	14.90	2.674198	0.47781	.	.	ENSG00000186526	ENST00000441682	.	.	.	3.46	2.42	0.29668	.	0.224065	0.34986	U	0.003532	T	0.71065	0.3296	.	.	.	.	.	.	D;D	0.69078	0.997;0.99	D;D	0.76071	0.987;0.93	T	0.78186	-0.2302	7	0.87932	D	0	.	8.7103	0.34380	0.1181:0.0:0.8819:0.0	.	105;105	B4DU32;P98187	.;CP4F8_HUMAN	H	105	.	ENSP00000409702:D105H	D	+	1	0	CYP4F8	15589925	0.980000	0.34600	0.015000	0.15790	0.003000	0.03518	2.609000	0.46317	0.794000	0.33899	0.591000	0.81541	GAC		0.577	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		17	98	0	0	0	0	17	98				
FCGBP	8857	broad.mit.edu	37	19	40368715	40368715	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:40368715G>A	ENST00000221347.6	-	28	12640	c.12633C>T	c.(12631-12633)ggC>ggT	p.G4211G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4211	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCACACTGCGCCATGATAGC	0.597																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12631-12633)GGC>GGT		Fc fragment of IgG binding protein precursor							258.0	259.0	259.0					19																	40368715		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368715G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12633C>T	19.37:g.40368715G>A							p.G4211G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12641	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4211			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12633C>T	CCDS12546.1																																																																																				0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		31	348	0	0	0	0	31	348				
TSKS	60385	broad.mit.edu	37	19	50266447	50266447	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:50266447C>T	ENST00000246801.3	-	1	140	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	20					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGGGGGTGTCCCCGGCCTCA	0.657																																						uc002ppm.2		NA																	0				large_intestine(1)|skin(1)	2						c.(58-60)GAC>AAC		testis-specific kinase substrate							61.0	66.0	64.0					19																	50266447		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50266447C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.58G>A	19.37:g.50266447C>T	ENSP00000246801:p.Asp20Asn						p.D20N	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	1	69	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	20					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.58G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154504	0.57259	.	.	ENSG00000126467	ENST00000246801	T	0.51325	0.71	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000387	T	0.56124	0.1964	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.61202	-0.7110	10	0.87932	D	0	-27.6998	15.0676	0.72008	0.0:1.0:0.0:0.0	.	20	Q9UJT2	TSKS_HUMAN	N	20	ENSP00000246801:D20N	ENSP00000246801:D20N	D	-	1	0	TSKS	54958259	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	4.151000	0.58105	2.299000	0.77371	0.467000	0.42956	GAC		0.657	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		16	74	0	0	0	0	16	74				
RDH13	112724	broad.mit.edu	37	19	55559839	55559839	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:55559839G>C	ENST00000415061.3	-	5	659	c.516C>G	c.(514-516)ctC>ctG	p.L172L	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Silent_p.L101L	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	172					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCAGGGACGAGAGGTTGATGA	0.512																																						uc002qio.3		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(514-516)CTC>CTG		retinol dehydrogenase 13 isoform 1	Vitamin A(DB00162)						79.0	81.0	81.0					19																	55559839		2020	4176	6196	SO:0001819	synonymous_variant	112724						binding|oxidoreductase activity	g.chr19:55559839G>C		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.516C>G	19.37:g.55559839G>C						RDH13_uc002qip.2_Silent_p.L101L|RDH13_uc010esr.1_RNA	p.L172L	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	5	701	-			172					Q6UX79|Q96G88	Silent	SNP	ENST00000415061.3	37	c.516C>G	CCDS54320.1																																																																																				0.512	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		5	67	0	0	0	0	5	67				
ZNF211	10520	broad.mit.edu	37	19	58152803	58152803	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:58152803G>A	ENST00000347302.3	+	3	1128	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	ZNF211_ENST00000544273.1_Missense_Mutation_p.E329K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E256K|ZNF211_ENST00000541801.1_Missense_Mutation_p.E308K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E382K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E308K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E321K|ZNF211_ENST00000240731.4_Missense_Mutation_p.E330K	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCGTGCCCTGAATGTGGGAA	0.408																																						uc002qpq.2		NA																	0				ovary(2)	2						c.(949-951)GAA>AAA		zinc finger protein 211 isoform 2							72.0	72.0	72.0					19																	58152803		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152803G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.949G>A	19.37:g.58152803G>A	ENSP00000339562:p.Glu317Lys					ZNF211_uc010yhb.1_Missense_Mutation_p.E321K|ZNF211_uc002qpp.2_Missense_Mutation_p.E330K|ZNF211_uc002qpr.2_Missense_Mutation_p.E381K|ZNF211_uc002qps.2_Missense_Mutation_p.E382K|ZNF211_uc002qpt.2_Missense_Mutation_p.E329K|ZNF211_uc010yhc.1_Missense_Mutation_p.E329K|ZNF211_uc010yhd.1_Missense_Mutation_p.E256K|ZNF211_uc010yhe.1_Missense_Mutation_p.E308K	p.E317K	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1129	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	317			C2H2-type 4.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.949G>A	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243666	0.58995	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	3.21	3.21	0.36854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54902	0.1887	L	0.45137	1.4	0.23277	N	0.99799	P;P;D;P;P;P	0.59767	0.616;0.616;0.986;0.616;0.668;0.668	B;B;D;B;P;P	0.70227	0.322;0.322;0.968;0.322;0.451;0.451	T	0.44590	-0.9318	9	0.51188	T	0.08	.	13.6422	0.62257	0.0:0.0:1.0:0.0	.	321;329;382;308;317;330	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	K	321;317;308;256;308;382;329;330	ENSP00000399193:E321K;ENSP00000339562:E317K;ENSP00000254182:E308K;ENSP00000375584:E256K;ENSP00000442601:E308K;ENSP00000299871:E382K;ENSP00000441386:E329K;ENSP00000240731:E330K	ENSP00000240731:E330K	E	+	1	0	ZNF211	62844615	0.000000	0.05858	0.878000	0.34440	0.964000	0.63967	-0.497000	0.06428	1.813000	0.52934	0.573000	0.79308	GAA		0.408	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			18	79	0	0	0	0	18	79				
ZNF274	10782	broad.mit.edu	37	19	58697098	58697098	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:58697098A>T	ENST00000326804.4	+	3	512	c.53A>T	c.(52-54)gAt>gTt	p.D18V	ZNF274_ENST00000345813.3_Missense_Mutation_p.D18V|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Intron	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	18	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACCTTTGAAGATGTAACACTG	0.517																																						uc002qrq.1		NA																	0				ovary(1)	1						c.(52-54)GAT>GTT		zinc finger protein 274 isoform c							99.0	109.0	106.0					19																	58697098		2189	4296	6485	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58697098A>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.53A>T	19.37:g.58697098A>T	ENSP00000321209:p.Asp18Val					ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.D18V|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR	p.D18V	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	3	512	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	18			KRAB 1.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.53A>T		.	.	.	.	.	.	.	.	.	.	A	17.79	3.477063	0.63849	.	.	ENSG00000171606	ENST00000326804;ENST00000345813	T;T	0.12039	2.72;2.72	4.22	4.22	0.49857	Krueppel-associated box (4);	0.000000	0.35585	N	0.003105	T	0.47619	0.1455	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61540	-0.7042	10	0.87932	D	0	-25.9868	11.6514	0.51290	1.0:0.0:0.0:0.0	.	18;18	Q96GC6-2;Q96GC6	.;ZN274_HUMAN	V	18	ENSP00000321209:D18V;ENSP00000321187:D18V	ENSP00000321209:D18V	D	+	2	0	ZNF274	63388910	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.750000	0.62162	2.133000	0.65898	0.533000	0.62120	GAT		0.517	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		42	65	0	0	0	0	42	65				
KCNS3	3790	broad.mit.edu	37	2	18113159	18113159	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:18113159T>G	ENST00000403915.1	+	3	1335	c.884T>G	c.(883-885)aTg>aGg	p.M295R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.M295R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	295					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACGGCTTATGAGGATTTTC	0.498																																						uc002rcv.2		NA																	0				ovary(4)	4						c.(883-885)ATG>AGG		potassium voltage-gated channel							109.0	107.0	107.0					2																	18113159		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113159T>G	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.884T>G	2.37:g.18113159T>G	ENSP00000385968:p.Met295Arg					KCNS3_uc002rcw.2_Missense_Mutation_p.M295R	p.M295R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1335	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		295			Helical; Name=Segment S4; (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.884T>G	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.433769	0.62955	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98550	-4.99;-4.99	5.86	5.86	0.93980	Ion transport (1);	0.035132	0.85682	D	0.000000	D	0.98969	0.9649	M	0.90425	3.115	0.80722	D	1	D	0.65815	0.995	P	0.61070	0.883	D	0.99533	1.0961	10	0.87932	D	0	.	16.255	0.82510	0.0:0.0:0.0:1.0	.	295	Q9BQ31	KCNS3_HUMAN	R	295	ENSP00000385968:M295R;ENSP00000305824:M295R	ENSP00000305824:M295R	M	+	2	0	KCNS3	17976640	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.289000	0.72696	2.240000	0.73641	0.533000	0.62120	ATG		0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		30	61	0	0	0	0	30	61				
STRN	6801	broad.mit.edu	37	2	37126701	37126701	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:37126701C>T	ENST00000263918.4	-	6	768	c.760G>A	c.(760-762)Gat>Aat	p.D254N	STRN_ENST00000379213.2_Missense_Mutation_p.D242N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	254					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTCTTCCATCAACATCATCA	0.338																																						uc002rpn.2		NA																	0				skin(1)	1						c.(760-762)GAT>AAT		striatin, calmodulin binding protein							77.0	75.0	76.0					2																	37126701		2202	4299	6501	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37126701C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.760G>A	2.37:g.37126701C>T	ENSP00000263918:p.Asp254Asn					STRN_uc010ezx.2_Missense_Mutation_p.D254N	p.D254N	NM_003162	NP_003153	O43815	STRN_HUMAN			6	769	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	254					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.760G>A	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571472	0.45798	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.66280	-0.2;-0.19	5.92	5.05	0.67936	.	0.313613	0.39083	N	0.001475	T	0.58119	0.2100	L	0.28192	0.835	0.47009	D	0.999289	P;B	0.37824	0.609;0.286	P;B	0.47528	0.549;0.142	T	0.52866	-0.8518	10	0.17369	T	0.5	-12.5332	15.1749	0.72903	0.0:0.9326:0.0:0.0674	.	242;254	O43815-2;O43815	.;STRN_HUMAN	N	254;229;242	ENSP00000263918:D254N;ENSP00000368513:D242N	ENSP00000263918:D254N	D	-	1	0	STRN	36980205	1.000000	0.71417	0.864000	0.33941	0.712000	0.41017	6.658000	0.74407	1.530000	0.49136	0.655000	0.94253	GAT		0.338	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			4	47	0	0	0	0	4	47				
ABCG8	64241	broad.mit.edu	37	2	44079964	44079964	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:44079964C>T	ENST00000272286.2	+	6	1011	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	307	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCACAGCCATCGGCTACCCCT	0.592																																						uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(919-921)ATC>ATT		ATP-binding cassette sub-family G member 8							87.0	85.0	86.0					2																	44079964		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079964C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.921C>T	2.37:g.44079964C>T						ABCG8_uc010yoa.1_Silent_p.I307I	p.I307I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			6	1011	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	307			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.921C>T	CCDS1815.1																																																																																				0.592	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		11	92	0	0	0	0	11	92				
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	rs202028007		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGCCGCCGCGGCCCTGCTC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.001		0.0	False		,,,				2504	0.0					uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1648-1650)GCG>GTG		ATP-binding cassette sub-family G member 8							67.0	66.0	66.0					2																	44102445		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102445C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1649C>T	2.37:g.44102445C>T	ENSP00000272286:p.Ala550Val					ABCG8_uc010yoa.1_Missense_Mutation_p.A549V	p.A550V	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			11	1739	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	550			Helical; Name=4; (Potential).|ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1649C>T	CCDS1815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.22	2.768002	0.49680	.	.	ENSG00000143921	ENST00000272286	T	0.74947	-0.89	4.73	3.85	0.44370	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.81650	0.4867	M	0.65975	2.015	0.22968	N	0.998499	D;D	0.71674	0.998;0.998	P;P	0.61658	0.827;0.892	T	0.73528	-0.3954	10	0.42905	T	0.14	.	12.9331	0.58299	0.0:0.9209:0.0:0.0791	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	550	ENSP00000272286:A550V	ENSP00000272286:A550V	A	+	2	0	ABCG8	43955949	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	5.484000	0.66844	0.984000	0.38629	0.462000	0.41574	GCG		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		18	49	0	0	0	0	18	49				
USP34	9736	broad.mit.edu	37	2	61431396	61431396	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:61431396T>C	ENST00000398571.2	-	74	9455	c.9379A>G	c.(9379-9381)Agt>Ggt	p.S3127G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3127					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATACCTTACTGGTTTCCACC	0.428																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(9379-9381)AGT>GGT		ubiquitin specific protease 34							123.0	120.0	121.0					2																	61431396		1867	4112	5979	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61431396T>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9379A>G	2.37:g.61431396T>C	ENSP00000381577:p.Ser3127Gly					USP34_uc002sbd.2_Intron	p.S3127G	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		74	9401	-			3127					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9379A>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634105	0.29068	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.03831	3.79	6.03	6.03	0.97812	.	0.159796	0.64402	D	0.000002	T	0.06234	0.0161	L	0.34521	1.04	0.38864	D	0.956553	B	0.13594	0.008	B	0.14578	0.011	T	0.29119	-1.0022	10	0.52906	T	0.07	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	3127	Q70CQ2	UBP34_HUMAN	G	2975;2892;3127;24	ENSP00000381577:S3127G	ENSP00000263989:S2975G	S	-	1	0	USP34	61284900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.139000	0.71728	2.313000	0.78055	0.455000	0.32223	AGT		0.428	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			44	72	0	0	0	0	44	72				
LRRTM1	347730	broad.mit.edu	37	2	80530075	80530075	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:80530075G>T	ENST00000295057.3	-	2	1526	c.870C>A	c.(868-870)aaC>aaA	p.N290K	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.N290K|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	290					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGTGAGGCGGTTGGAGTCCA	0.602										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(868-870)AAC>AAA		leucine rich repeat transmembrane neuronal 1							59.0	59.0	59.0					2																	80530075		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530075G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.870C>A	2.37:g.80530075G>T	ENSP00000295057:p.Asn290Lys	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.N290K	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1140	-			290			LRR 9.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.870C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513877	0.44763	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.68331	-0.32;-0.32	5.26	3.45	0.39498	.	0.000000	0.85682	U	0.000000	D	0.85301	0.5665	H	0.96777	3.88	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.86138	0.1579	9	.	.	.	.	7.5725	0.27915	0.36:0.0:0.64:0.0	.	290	Q86UE6	LRRT1_HUMAN	K	290	ENSP00000295057:N290K;ENSP00000386646:N290K	.	N	-	3	2	LRRTM1	80383586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.984000	0.40658	1.189000	0.43028	0.655000	0.94253	AAC		0.602	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		13	32	1	0	1.57e-10	1.71e-10	13	32				
SLC5A7	60482	broad.mit.edu	37	2	108604753	108604753	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:108604753G>A	ENST00000264047.2	+	2	418	c.142G>A	c.(142-144)Gat>Aat	p.D48N	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	48					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.D48Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527																																						uc002tdv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(142-144)GAT>AAT		solute carrier family 5 (choline transporter),	Choline(DB00122)						148.0	131.0	137.0					2																	108604753		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604753G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.142G>A	2.37:g.108604753G>A	ENSP00000264047:p.Asp48Asn					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.D48N|SLC5A7_uc010ywn.1_Intron	p.D48N	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			2	418	+			48			Extracellular (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.142G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716800	0.30413	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.87650	-2.28;-2.28	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.76083	0.3938	N	0.04746	-0.17	0.80722	D	1	B	0.18741	0.03	B	0.23716	0.048	T	0.70554	-0.4840	10	0.09843	T	0.71	-27.7342	20.3242	0.98691	0.0:0.0:1.0:0.0	.	48	Q9GZV3	SC5A7_HUMAN	N	48	ENSP00000387346:D48N;ENSP00000264047:D48N	ENSP00000264047:D48N	D	+	1	0	SLC5A7	107971185	1.000000	0.71417	0.992000	0.48379	0.691000	0.40173	9.420000	0.97426	2.882000	0.98803	0.655000	0.94253	GAT		0.527	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			4	66	0	0	0	0	4	66				
TTL	150465	broad.mit.edu	37	2	113251798	113251798	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:113251798C>G	ENST00000233336.6	+	3	506	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	105	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CAACCAATCTCAAGACTCCAG	0.443			T	ETV6	ALL																																	uc002thu.2		NA		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0					0						c.(313-315)CTC>CTG		tubulin tyrosine ligase							77.0	70.0	72.0					2																	113251798		2203	4300	6503	SO:0001819	synonymous_variant	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113251798C>G		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.315C>G	2.37:g.113251798C>G							p.L105L	NM_153712	NP_714923	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	3	494	+		Ovarian(717;0.024)	105			TTL.		Q585T3|Q7Z302|Q8N426	Silent	SNP	ENST00000233336.6	37	c.315C>G	CCDS2096.1																																																																																				0.443	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		10	52	0	0	0	0	10	52				
UBXN4	23190	broad.mit.edu	37	2	136528186	136528186	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:136528186A>G	ENST00000272638.9	+	8	1014	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	235					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TGGAAAAGAAATGTTGGATTA	0.328																																						uc002tur.2		NA																	0				skin(2)	2						c.(703-705)ATG>GTG		UBX domain containing 2							72.0	66.0	68.0					2																	136528186		1804	4067	5871	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136528186A>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.703A>G	2.37:g.136528186A>G	ENSP00000272638:p.Met235Val					UBXN4_uc002tus.2_Missense_Mutation_p.M1V	p.M235V	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			8	1014	+			235			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.703A>G	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304829	0.23736	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.18016	2.24	5.54	5.54	0.83059	.	0.545156	0.23314	N	0.049528	T	0.21227	0.0511	M	0.61703	1.905	0.42447	D	0.992735	B	0.24483	0.104	B	0.25140	0.058	T	0.03473	-1.1033	10	0.22706	T	0.39	.	15.668	0.77247	1.0:0.0:0.0:0.0	.	235	Q92575	UBXN4_HUMAN	V	235;217	ENSP00000272638:M235V	ENSP00000272638:M235V	M	+	1	0	UBXN4	136244656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.664000	0.68045	2.106000	0.64143	0.477000	0.44152	ATG		0.328	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		8	13	0	0	0	0	8	13				
FAP	2191	broad.mit.edu	37	2	163055300	163055300	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:163055300C>T	ENST00000188790.4	-	16	1576	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	FAP_ENST00000443424.1_Missense_Mutation_p.D432N	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTGGCGTAGTCGCTGAAACTT	0.468																																						uc002ucd.2		NA																	0				ovary(3)	3						c.(1369-1371)GAC>AAC		fibroblast activation protein, alpha subunit							253.0	206.0	222.0					2																	163055300		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163055300C>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1369G>A	2.37:g.163055300C>T	ENSP00000188790:p.Asp457Asn					FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.D432N|FAP_uc010fpd.2_5'UTR	p.D457N	NM_004460	NP_004451	Q12884	SEPR_HUMAN			16	1577	-			457			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1369G>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810223	0.32053	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95918	-3.85;1.53	6.05	2.76	0.32466	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.536026	0.22137	N	0.064113	D	0.85435	0.5696	N	0.08118	0	0.30585	N	0.762106	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.75969	-0.3130	10	0.19147	T	0.46	-12.3529	3.9533	0.09379	0.3854:0.4066:0.1211:0.0869	.	432;457	B4DLR2;Q12884	.;SEPR_HUMAN	N	457;432	ENSP00000188790:D457N;ENSP00000411391:D432N	ENSP00000188790:D457N	D	-	1	0	FAP	162763546	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	0.413000	0.21148	0.809000	0.34255	0.650000	0.86243	GAC		0.468	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			20	41	0	0	0	0	20	41				
XIRP2	129446	broad.mit.edu	37	2	168103755	168103755	+	Silent	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:168103755T>G	ENST00000409195.1	+	9	5942	c.5853T>G	c.(5851-5853)gcT>gcG	p.A1951A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A1951A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.A1729A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1776					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCTAAAGCTGTGATGGCAG	0.403																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(5851-5853)GCT>GCG		xin actin-binding repeat containing 2 isoform 1							47.0	44.0	45.0					2																	168103755		1860	4103	5963	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103755T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5853T>G	2.37:g.168103755T>G						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.A1776A|XIRP2_uc010fpq.2_Silent_p.A1729A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.A1951A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5871	+			1776					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5853T>G	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	43	0	0	0	0	8	43				
TTN	7273	broad.mit.edu	37	2	179635006	179635006	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:179635006C>G	ENST00000591111.1	-	36	8646	c.8422G>C	c.(8422-8424)Gaa>Caa	p.E2808Q	TTN_ENST00000359218.5_Missense_Mutation_p.E2762Q|TTN_ENST00000360870.5_Missense_Mutation_p.E2808Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2762Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2762Q|TTN_ENST00000589042.1_Missense_Mutation_p.E2808Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2808Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13136					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGCATTTTCCAAGGCTGTC	0.408																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8422-8424)GAA>CAA		titin isoform N2-A							130.0	125.0	126.0					2																	179635006		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635006C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8422G>C	2.37:g.179635006C>G	ENSP00000465570:p.Glu2808Gln					TTN_uc010zfh.1_Missense_Mutation_p.E2762Q|TTN_uc010zfi.1_Missense_Mutation_p.E2762Q|TTN_uc010zfj.1_Missense_Mutation_p.E2762Q|TTN_uc002unb.2_Missense_Mutation_p.E2808Q	p.E2808Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8646	-			2808					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8422G>C		.	.	.	.	.	.	.	.	.	.	C	13.15	2.152525	0.38021	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67477	0.2897	M	0.75884	2.315	0.25416	N	0.988313	P;P;P;P;D	0.63880	0.523;0.523;0.523;0.523;0.993	P;P;P;P;P	0.56563	0.478;0.478;0.478;0.478;0.801	T	0.62656	-0.6808	9	0.87932	D	0	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	2762;2762;2762;2808;2808	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2808;2762;2762;2762;2762;2808	ENSP00000343764:E2808Q;ENSP00000434586:E2762Q;ENSP00000340554:E2762Q;ENSP00000352154:E2762Q;ENSP00000354117:E2808Q	ENSP00000340554:E2762Q	E	-	1	0	TTN	179343251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.578000	0.36525	2.871000	0.98454	0.655000	0.94253	GAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	88	0	0	0	0	16	88				
COL3A1	1281	broad.mit.edu	37	2	189873853	189873853	+	Silent	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:189873853A>G	ENST00000304636.3	+	48	3899	c.3729A>G	c.(3727-3729)ggA>ggG	p.G1243G	COL3A1_ENST00000317840.5_Silent_p.G940G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1243	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTGTTAATGGACAAATAGAAA	0.423																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3727-3729)GGA>GGG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						96.0	100.0	98.0					2																	189873853		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189873853A>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3729A>G	2.37:g.189873853A>G							p.G1243G	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3846	+			1243			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.3729A>G	CCDS2297.1																																																																																				0.423	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	106	0	0	0	0	5	106				
ANKAR	150709	broad.mit.edu	37	2	190559831	190559831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:190559831C>G	ENST00000520309.1	+	6	1520	c.1432C>G	c.(1432-1434)Caa>Gaa	p.Q478E	ANKAR_ENST00000431575.2_Missense_Mutation_p.Q407E|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q478E|ANKAR_ENST00000281412.6_Missense_Mutation_p.Q242E|ANKAR_ENST00000438402.2_Missense_Mutation_p.Q478E|ANKAR_ENST00000461516.1_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	478						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GACAGATGCTCAATTACATGA	0.338																																						uc002uqw.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1219-1221)CAA>GAA		ankyrin and armadillo repeat containing							71.0	70.0	71.0					2																	190559831		2203	4298	6501	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190559831C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1432C>G	2.37:g.190559831C>G	ENSP00000427882:p.Gln478Glu					ANKAR_uc002uqu.2_RNA	p.Q407E	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		5	1219	+			478					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1219C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508147	0.44660	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.44482	0.96;0.96;0.92;0.97;1.02	5.62	5.62	0.85841	.	0.000000	0.50627	D	0.000101	T	0.45135	0.1327	L	0.34521	1.04	0.34885	D	0.745009	.	.	.	.	.	.	T	0.44345	-0.9334	8	0.22706	T	0.39	-16.5139	18.7909	0.91974	0.0:1.0:0.0:0.0	.	.	.	.	E	478;478;478;407;242	ENSP00000427882:Q478E;ENSP00000313513:Q478E;ENSP00000397243:Q478E;ENSP00000393043:Q407E;ENSP00000281412:Q242E	ENSP00000281412:Q242E	Q	+	1	0	ANKAR	190268076	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	3.793000	0.55484	2.801000	0.96364	0.650000	0.86243	CAA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	47	0	0	0	0	4	47				
PLCL1	5334	broad.mit.edu	37	2	198949886	198949886	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:198949886G>C	ENST00000428675.1	+	2	2043	c.1645G>C	c.(1645-1647)Gat>Cat	p.D549H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D451H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	549	Interaction with GABA A beta subunit. {ECO:0000250}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTGATCCAGATGTGTTAGA	0.413																																						uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(1645-1647)GAT>CAT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						62.0	60.0	61.0					2																	198949886		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949886G>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1645G>C	2.37:g.198949886G>C	ENSP00000402861:p.Asp549His					PLCL1_uc002uuv.3_Missense_Mutation_p.D470H	p.D549H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1936	+			549			Interaction with GABA A beta subunit (By similarity).		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1645G>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428938	0.25726	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.54675	0.56;0.56	6.04	4.24	0.50183	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.080442	0.53938	D	0.000056	T	0.47192	0.1432	L	0.43152	1.355	0.09310	N	0.999992	P;P	0.44478	0.836;0.585	B;B	0.43990	0.438;0.438	T	0.38564	-0.9655	9	.	.	.	.	11.7154	0.51650	0.1919:0.0:0.8081:0.0	.	549;475	Q15111;B4DYZ4	PLCL1_HUMAN;.	H	549;451	ENSP00000402861:D549H;ENSP00000414138:D451H	.	D	+	1	0	PLCL1	198658131	0.596000	0.26866	0.899000	0.35326	0.965000	0.64279	2.554000	0.45845	1.568000	0.49683	0.561000	0.74099	GAT		0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	41	0	0	0	0	20	41				
NOP58	51602	broad.mit.edu	37	2	203157551	203157551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:203157551C>T	ENST00000264279.5	+	9	1058	c.832C>T	c.(832-834)Cga>Tga	p.R278*	SNORD11_ENST00000459124.1_RNA|SNORD11B_ENST00000607707.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	278					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCTACAAAATCGAATGATGGC	0.358																																						uc002uzb.2		NA																	0					0						c.(832-834)CGA>TGA		NOP58 ribonucleoprotein homolog							166.0	168.0	167.0					2																	203157551		2203	4300	6503	SO:0001587	stop_gained	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203157551C>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.832C>T	2.37:g.203157551C>T	ENSP00000264279:p.Arg278*					SNORD11_uc002uzd.1_5'Flank	p.R278*	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN			9	982	+			278			Nop.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Nonsense_Mutation	SNP	ENST00000264279.5	37	c.832C>T	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887861	0.52014	.	.	ENSG00000055044	ENST00000264279	.	.	.	5.46	3.37	0.38596	.	0.103875	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5337	12.22	0.54429	0.5593:0.4407:0.0:0.0	.	.	.	.	X	278	.	ENSP00000264279:R278X	R	+	1	2	NOP58	202865796	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	2.399000	0.44495	1.430000	0.47334	0.585000	0.79938	CGA		0.358	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		7	106	0	0	0	0	7	106				
SPEG	10290	broad.mit.edu	37	2	220354138	220354138	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:220354138C>T	ENST00000312358.7	+	36	8530	c.8398C>T	c.(8398-8400)Cct>Tct	p.P2800S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2800	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGACTCTCCTACCTCACT	0.627																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8398-8400)CCT>TCT		SPEG complex locus							38.0	38.0	38.0					2																	220354138		1897	4114	6011	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354138C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8398C>T	2.37:g.220354138C>T	ENSP00000311684:p.Pro2800Ser						p.P2800S	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8398	+		Renal(207;0.0183)	2800			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8398C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136345	0.37728	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66280	-0.2	4.51	4.51	0.55191	.	0.751221	0.11062	N	0.603809	T	0.51584	0.1683	N	0.22421	0.69	0.80722	D	1	B	0.22080	0.064	B	0.17722	0.019	T	0.42137	-0.9469	10	0.40728	T	0.16	.	16.2099	0.82148	0.0:1.0:0.0:0.0	.	2800	Q15772	SPEG_HUMAN	S	2800	ENSP00000311684:P2800S	ENSP00000265327:P2800S	P	+	1	0	SPEG	220062382	0.354000	0.24912	1.000000	0.80357	0.946000	0.59487	0.560000	0.23500	2.357000	0.79964	0.456000	0.33151	CCT		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	15	0	0	0	0	4	15				
UGT1A10	54575	broad.mit.edu	37	2	234545520	234545520	+	Missense_Mutation	SNP	G	G	C	rs45458396		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:234545520G>C	ENST00000344644.5	+	1	421	c.352G>C	c.(352-354)Gac>Cac	p.D118H	UGT1A10_ENST00000373445.1_Missense_Mutation_p.D118H|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	118					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGGTTTTCTTGACTTATTTTT	0.368																																						uc002vur.2		NA																	0				ovary(2)|skin(1)	3						c.(352-354)GAC>CAC		UDP glycosyltransferase 1 family, polypeptide							102.0	109.0	107.0					2																	234545520		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545520G>C	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.352G>C	2.37:g.234545520G>C	ENSP00000343838:p.Asp118His					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.D118H	p.D118H	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	398	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	118					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.352G>C	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074020	0.36566	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.61742	0.08;0.08	3.67	1.79	0.24919	.	.	.	.	.	T	0.62780	0.2456	L	0.53671	1.685	0.09310	N	1	D;P	0.53619	0.961;0.728	P;P	0.57620	0.824;0.776	T	0.51576	-0.8688	9	0.72032	D	0.01	.	6.6678	0.23052	0.1792:0.1491:0.6718:0.0	.	118;118	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	H	118	ENSP00000343838:D118H;ENSP00000362544:D118H	ENSP00000343838:D118H	D	+	1	0	UGT1A10	234210259	0.018000	0.18449	0.005000	0.12908	0.017000	0.09413	0.923000	0.28757	0.336000	0.23639	0.405000	0.27470	GAC		0.368	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		13	106	0	0	0	0	13	106				
SNX5	27131	broad.mit.edu	37	20	17937598	17937598	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:17937598G>C	ENST00000377768.3	-	3	447	c.135C>G	c.(133-135)gtC>gtG	p.V45V	SNX5_ENST00000377759.4_Silent_p.V45V|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	45	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol bisphosphate binding. {ECO:0000250}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTGTAAATTTGACTTTGTCTC	0.423																																						uc002wqc.2		NA																	0				large_intestine(1)	1						c.(133-135)GTC>GTG		sorting nexin 5							179.0	136.0	151.0					20																	17937598		2203	4300	6503	SO:0001819	synonymous_variant	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17937598G>C	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.135C>G	20.37:g.17937598G>C						SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.V45V|SNX5_uc002wqe.2_5'UTR|SNX5_uc010zrt.1_Silent_p.V45V	p.V45V	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN			2	221	-			45			Phosphatidylinositol bisphosphate binding (By similarity).|PX.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	c.135C>G	CCDS13130.1																																																																																				0.423	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			16	57	0	0	0	0	16	57				
ACSS1	84532	broad.mit.edu	37	20	25038407	25038407	+	Missense_Mutation	SNP	G	G	A	rs141662914		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:25038407G>A	ENST00000323482.4	-	1	411	c.332C>T	c.(331-333)tCt>tTt	p.S111F	ACSS1_ENST00000432802.2_Missense_Mutation_p.S111F|ACSS1_ENST00000376726.3_Missense_Mutation_p.S111F	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	111					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACTCACCAGAGACATTTAA	0.667																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(331-333)TCT>TTT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						40.0	46.0	44.0					20																	25038407		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25038407G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.332C>T	20.37:g.25038407G>A	ENSP00000316924:p.Ser111Phe					ACSS1_uc002wuc.2_Missense_Mutation_p.S111F|ACSS1_uc010gdc.2_Missense_Mutation_p.S111F	p.S111F	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			1	1210	-			111					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.332C>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828439	0.50845	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.48522	0.81;0.81;2.89	3.46	3.46	0.39613	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.066239	0.64402	D	0.000007	T	0.65984	0.2744	M	0.87381	2.88	0.80722	D	1	P;B;P	0.51057	0.941;0.433;0.489	P;B;B	0.58520	0.84;0.119;0.19	T	0.72381	-0.4311	10	0.87932	D	0	-0.4305	10.5906	0.45308	0.0:0.0:1.0:0.0	.	111;111;111	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	F	111	ENSP00000316924:S111F;ENSP00000388793:S111F;ENSP00000365916:S111F	ENSP00000316924:S111F	S	-	2	0	ACSS1	24986407	0.999000	0.42202	0.817000	0.32601	0.131000	0.20780	5.311000	0.65786	1.934000	0.56057	0.313000	0.20887	TCT		0.667	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		7	47	0	0	0	0	7	47				
NANP	140838	broad.mit.edu	37	20	25604531	25604531	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:25604531G>A	ENST00000304788.3	-	1	280	c.54C>T	c.(52-54)atC>atT	p.I18I	RP4-694B14.5_ENST00000420803.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	18					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						CGGCCGTGTCGATGAGAGTGT	0.701																																						uc002wuy.2		NA																	0					0						c.(52-54)ATC>ATT		N-acetylneuraminic acid phosphatase							35.0	38.0	37.0					20																	25604531		2201	4300	6501	SO:0001819	synonymous_variant	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25604531G>A	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.54C>T	20.37:g.25604531G>A						uc002wuz.2_5'Flank	p.I18I	NM_152667	NP_689880	Q8TBE9	NANP_HUMAN			1	118	-			18					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP	ENST00000304788.3	37	c.54C>T	CCDS13173.1																																																																																				0.701	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		4	26	0	0	0	0	4	26				
ITCH	83737	broad.mit.edu	37	20	33045206	33045206	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:33045206G>A	ENST00000262650.6	+	14	1481	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	ITCH_ENST00000535650.1_Missense_Mutation_p.D298N|ITCH-IT1_ENST00000418598.1_RNA|ITCH_ENST00000374864.4_Missense_Mutation_p.D408N|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	449	Required for interaction with FYN.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GAAGAGAACAGACAGCAATGG	0.403																																						uc010geu.1		NA																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1345-1347)GAC>AAC		itchy homolog E3 ubiquitin protein ligase							79.0	66.0	71.0					20																	33045206		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33045206G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1345G>A	20.37:g.33045206G>A	ENSP00000262650:p.Asp449Asn					ITCH_uc002xak.2_Missense_Mutation_p.D408N|ITCH_uc010zuj.1_Missense_Mutation_p.D298N	p.D449N	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			14	1537	+			449			WW 3.|Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1345G>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601310	0.96614	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	D;D;D	0.85629	-2.01;-2.01;-2.01	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	M	0.85041	2.73	0.80722	D	1	D;D;D	0.63046	0.986;0.992;0.958	P;D;D	0.66497	0.894;0.944;0.924	D	0.93458	0.6808	10	0.72032	D	0.01	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	360;449;408	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	N	408;298;449	ENSP00000363998:D408N;ENSP00000445608:D298N;ENSP00000262650:D449N	ENSP00000262650:D449N	D	+	1	0	ITCH	32508867	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	9.804000	0.99143	2.720000	0.93068	0.591000	0.81541	GAC		0.403	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			4	20	0	0	0	0	4	20				
RALGAPB	57148	broad.mit.edu	37	20	37209995	37209995	+	IGR	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:37209995G>A	ENST00000262879.6	+	0	8661				ADIG_ENST00000373348.3_Nonsense_Mutation_p.W34*|ADIG_ENST00000537425.1_Nonsense_Mutation_p.W29*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGATCATCTGGCTACGCTTCT	0.517																																						uc002xjb.1		NA																	0					0						c.(100-102)TGG>TGA		small adipocyte factor 1							183.0	183.0	183.0					20																	37209995		1960	4148	6108	SO:0001628	intergenic_variant	149685				brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus		g.chr20:37209995G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270		20.37:g.37209995G>A							p.W34*	NM_001018082	NP_001018092	Q0VDE8	ADIG_HUMAN			1	158	+		Myeloproliferative disorder(115;0.00878)	34			Helical; (Potential).		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	c.102G>A	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.495520|5.495520	0.96355|0.96355	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000416116|ENST00000537425;ENST00000373348	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.33217	.|N	.|0.005145	T|.	0.35307|.	0.0927|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31194|.	-0.9952|.	3|.	.|0.02654	.|T	.|1	-5.7028|-5.7028	14.4866|14.4866	0.67622|0.67622	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	16|29;34	.|.	.|ENSP00000362445:W34X	G|W	+|+	2|3	0|0	ADIG|ADIG	36643409|36643409	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.870000|0.870000	0.49936|0.49936	4.924000|4.924000	0.63418|0.63418	2.538000|2.538000	0.85594|0.85594	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.517	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		40	49	0	0	0	0	40	49				
MAFB	9935	broad.mit.edu	37	20	39316788	39316788	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:39316788C>T	ENST00000373313.2	-	1	1092	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MAFB_ENST00000396967.1_Missense_Mutation_p.E235K	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	235					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGGATCACCTCGTCCTTGGTG	0.647			T	IGH@	MM																																	uc002xji.2		NA		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(703-705)GAG>AAG		transcription factor MAFB							20.0	20.0	20.0					20																	39316788		2203	4299	6502	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39316788C>T	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.703G>A	20.37:g.39316788C>T	ENSP00000362410:p.Glu235Lys						p.E235K	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	1089	-		Myeloproliferative disorder(115;0.00878)	235					B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.703G>A	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856285	0.91355	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.92911	-3.13;-3.13	4.34	4.34	0.51931	Basic-leucine zipper (bZIP) transcription factor (1);Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.056750	0.64402	D	0.000001	D	0.95204	0.8445	M	0.84846	2.72	0.80722	D	1	D	0.60160	0.987	P	0.55011	0.766	D	0.95918	0.8928	10	0.62326	D	0.03	-13.4435	17.0833	0.86604	0.0:1.0:0.0:0.0	.	235	Q9Y5Q3	MAFB_HUMAN	K	235	ENSP00000362410:E235K;ENSP00000380167:E235K	ENSP00000362410:E235K	E	-	1	0	MAFB	38750202	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.644000	0.83416	2.274000	0.75844	0.456000	0.33151	GAG		0.647	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			5	12	0	0	0	0	5	12				
ZNFX1	57169	broad.mit.edu	37	20	47863847	47863847	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:47863847G>A	ENST00000396105.1	-	14	5960	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1905V	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1905							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGTTGTTGGCCGTGTCAGA	0.522																																						uc002xui.2		NA																	0				ovary(2)	2						c.(5713-5715)GCC>GTC		zinc finger, NFX1-type containing 1							135.0	118.0	124.0					20																	47863847		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47863847G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5714C>T	20.37:g.47863847G>A	ENSP00000379412:p.Ala1905Val						p.A1905V	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5961	-			1905					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5714C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075729	0.76415	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.88201	-2.35;-2.35	5.8	5.8	0.92144	.	0.331731	0.31010	N	0.008437	D	0.93080	0.7797	M	0.65498	2.005	0.40018	D	0.975375	D	0.71674	0.998	P	0.61940	0.896	D	0.93720	0.7032	10	0.87932	D	0	-20.7705	16.7886	0.85580	0.0:0.0:1.0:0.0	.	1905	Q9P2E3	ZNFX1_HUMAN	V	1905	ENSP00000360817:A1905V;ENSP00000379412:A1905V	ENSP00000360817:A1905V	A	-	2	0	ZNFX1	47297254	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	4.418000	0.59828	2.758000	0.94735	0.563000	0.77884	GCC		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		30	64	0	0	0	0	30	64				
MYT1	4661	broad.mit.edu	37	20	62871203	62871203	+	Missense_Mutation	SNP	G	G	T	rs200181803		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:62871203G>T	ENST00000328439.1	+	22	3548	c.3184G>T	c.(3184-3186)Ggc>Tgc	p.G1062C	MYT1_ENST00000536311.1_Missense_Mutation_p.G1089C	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCTGTCCGGCCTGAGCCA	0.592																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(3184-3186)GGC>TGC		myelin transcription factor 1							115.0	117.0	116.0					20																	62871203		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871203G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3184G>T	20.37:g.62871203G>T	ENSP00000327465:p.Gly1062Cys					MYT1_uc002yij.2_Missense_Mutation_p.G721C|MYT1_uc002yik.2_Missense_Mutation_p.G28C	p.G1062C	NM_004535	NP_004526	Q01538	MYT1_HUMAN			22	3548	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1062					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.3184G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435094	0.62955	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.46819	0.86;0.86	5.91	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.72151	-0.4377	10	0.87932	D	0	-33.3387	14.8247	0.70101	0.0687:0.0:0.9313:0.0	.	1089;1062	F5H7M8;Q01538	.;MYT1_HUMAN	C	1062;1089	ENSP00000327465:G1062C;ENSP00000442412:G1089C	ENSP00000327465:G1062C	G	+	1	0	MYT1	62341647	1.000000	0.71417	0.885000	0.34714	1.000000	0.99986	7.924000	0.87555	1.505000	0.48720	0.655000	0.94253	GGC		0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		19	119	1	0	7.42e-09	8e-09	19	119				
GABPA	2551	broad.mit.edu	37	21	27136626	27136626	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr21:27136626C>T	ENST00000354828.3	+	8	1435	c.908C>T	c.(907-909)tCa>tTa	p.S303L	GABPA_ENST00000400075.3_Missense_Mutation_p.S303L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	303					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S303L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCGAGGATTTCAGGAGAAGAT	0.338																																						uc002ylx.3		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)|central_nervous_system(1)	2						c.(907-909)TCA>TTA		GA binding protein transcription factor, alpha							60.0	62.0	62.0					21																	27136626		2201	4296	6497	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27136626C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.908C>T	21.37:g.27136626C>T	ENSP00000346886:p.Ser303Leu					GABPA_uc002yly.3_Missense_Mutation_p.S303L	p.S303L	NM_002040	NP_002031	Q06546	GABPA_HUMAN			8	1435	+			303					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.908C>T	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767940	0.69878	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.12879	2.64;2.64	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.132653	0.52532	D	0.000061	T	0.10208	0.0250	L	0.27053	0.805	0.80722	D	1	P	0.36577	0.558	B	0.29663	0.105	T	0.21245	-1.0251	10	0.30078	T	0.28	.	17.7202	0.88349	0.0:1.0:0.0:0.0	.	303	Q06546	GABPA_HUMAN	L	303	ENSP00000346886:S303L;ENSP00000382948:S303L	ENSP00000346886:S303L	S	+	2	0	GABPA	26058497	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.835000	0.75344	2.586000	0.87340	0.591000	0.81541	TCA		0.338	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		16	24	0	0	0	0	16	24				
KRTAP13-2	337959	broad.mit.edu	37	21	31744345	31744345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr21:31744345G>A	ENST00000399889.2	-	1	212	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	63	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCTGGTGGGCTCCCAGCAG	0.602																																						uc002ynz.3		NA																	0					0						c.(187-189)CCC>TCC		keratin associated protein 13-2							55.0	55.0	55.0					21																	31744345		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744345G>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.187C>T	21.37:g.31744345G>A	ENSP00000382777:p.Pro63Ser						p.P63S	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	213	-			63			5 X 10 AA approximate repeats.|2.			Missense_Mutation	SNP	ENST00000399889.2	37	c.187C>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944370	0.53079	.	.	ENSG00000182816	ENST00000399889	T	0.06528	3.29	4.48	2.61	0.31194	.	0.000000	0.42420	D	0.000701	T	0.18087	0.0434	M	0.76328	2.33	0.23611	N	0.997297	D	0.71674	0.998	D	0.72075	0.976	T	0.02294	-1.1181	10	0.62326	D	0.03	.	4.8559	0.13559	0.109:0.0:0.6777:0.2132	.	63	Q52LG2	KR132_HUMAN	S	63	ENSP00000382777:P63S	ENSP00000382777:P63S	P	-	1	0	KRTAP13-2	30666216	0.990000	0.36364	0.677000	0.29947	0.798000	0.45092	1.614000	0.36911	1.136000	0.42199	0.655000	0.94253	CCC		0.602	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			23	43	0	0	0	0	23	43				
ZNF280A	129025	broad.mit.edu	37	22	22869589	22869589	+	Silent	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:22869589T>C	ENST00000302097.3	-	2	618	c.366A>G	c.(364-366)gaA>gaG	p.E122E	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TATAACCAGGTTCAGATGAAG	0.483																																						uc002zwe.2		NA																	0				ovary(1)	1						c.(364-366)GAA>GAG		zinc finger protein 280A							88.0	84.0	85.0					22																	22869589		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869589T>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.366A>G	22.37:g.22869589T>C						LOC96610_uc011aim.1_Intron	p.E122E	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	619	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	122						Silent	SNP	ENST00000302097.3	37	c.366A>G	CCDS13800.1																																																																																				0.483	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		35	51	0	0	0	0	35	51				
TST	7263	broad.mit.edu	37	22	37407100	37407100	+	Missense_Mutation	SNP	G	G	A	rs148918180		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:37407100G>A	ENST00000403892.3	-	2	1596	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.R288C	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	288	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)	p.R288C(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TGGGACACACGGCTCTCTGGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		16277	0.001		0.0	False		,,,				2504	0.0					uc003aqg.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(862-864)CGT>TGT		thiosulfate sulfurtransferase		G	CYS/ARG	0,4404		0,0,2202	54.0	59.0	57.0		862	1.9	0.4	22	dbSNP_134	57	2,8594		0,2,4296	no	missense	TST	NM_003312.4	180	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	288/298	37407100	2,12998	2202	4298	6500	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407100G>A	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.862C>T	22.37:g.37407100G>A	ENSP00000385828:p.Arg288Cys					TST_uc003aqh.2_Missense_Mutation_p.R288C	p.R288C	NM_003312	NP_003303	Q16762	THTR_HUMAN			2	1562	-			288			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.862C>T	CCDS13938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.14	1.848173	0.32699	0.0	2.33E-4	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.31769	1.48;1.48	5.08	1.85	0.25348	Rhodanese-like (2);	0.411052	0.24185	N	0.040762	T	0.17365	0.0417	N	0.24115	0.695	0.09310	N	1	P	0.44659	0.84	B	0.42522	0.39	T	0.10965	-1.0607	10	0.54805	T	0.06	-1.7964	1.7689	0.03008	0.1658:0.1183:0.4431:0.2728	.	288	Q16762	THTR_HUMAN	C	288;288;235	ENSP00000385828:R288C;ENSP00000249042:R288C	ENSP00000249042:R288C	R	-	1	0	TST	35737046	0.002000	0.14202	0.430000	0.26722	0.255000	0.26057	0.904000	0.28491	0.313000	0.23062	-0.136000	0.14681	CGT		0.617	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			5	103	0	0	0	0	5	103				
MICALL1	85377	broad.mit.edu	37	22	38323542	38323542	+	Silent	SNP	G	G	A	rs138192828		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:38323542G>A	ENST00000215957.6	+	9	1716	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	530	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TTCTGGAGCCGCCAGCTGTGC	0.657																																						uc003aui.2		NA																	0				breast(1)	1						c.(1588-1590)CCG>CCA		molecule interacting with Rab13		G		1,4405	2.1+/-5.4	0,1,2202	94.0	85.0	88.0		1590	-8.9	0.0	22	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	MICALL1	NM_033386.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		530/864	38323542	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323542G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1590G>A	22.37:g.38323542G>A							p.P530P	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			9	1674	+	Melanoma(58;0.045)		530			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1590G>A	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386710	0.11524	2.27E-4	0.0	ENSG00000100139	ENST00000454685	.	.	.	4.47	-8.93	0.00771	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.49798	D	0.999829	.	.	.	.	.	.	T	0.52719	-0.8538	4	.	.	.	.	0.5481	0.00657	0.3359:0.1599:0.2641:0.2401	.	.	.	.	T	108	.	.	A	+	1	0	MICALL1	36653488	0.000000	0.05858	0.001000	0.08648	0.854000	0.48673	-4.716000	0.00194	-4.519000	0.00044	-0.320000	0.08662	GCC		0.657	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		33	53	0	0	0	0	33	53				
APOBEC3H	164668	broad.mit.edu	37	22	39497505	39497505	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:39497505C>T	ENST00000401756.1	+	3	490	c.414C>T	c.(412-414)ttC>ttT	p.F138F	APOBEC3H_ENST00000348946.4_Silent_p.F138F|APOBEC3H_ENST00000442487.3_Silent_p.F138F|APOBEC3H_ENST00000421988.2_Silent_p.F138F	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	138					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TCATGGGCTTCCCAAGTAGGA	0.627																																						uc011aoh.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(412-414)TTC>TTT		apolipoprotein B mRNA editing enzyme, catalytic							32.0	35.0	34.0					22																	39497505		2202	4298	6500	SO:0001819	synonymous_variant	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497505C>T	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.414C>T	22.37:g.39497505C>T						APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	p.F138F	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN			3	480	+	Melanoma(58;0.04)		138					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Silent	SNP	ENST00000401756.1	37	c.414C>T	CCDS54530.1																																																																																				0.627	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		13	47	0	0	0	0	13	47				
CNTN6	27255	broad.mit.edu	37	3	1363508	1363508	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:1363508C>G	ENST00000446702.2	+	8	1563	c.936C>G	c.(934-936)ctC>ctG	p.L312L	CNTN6_ENST00000539053.1_Silent_p.L240L|CNTN6_ENST00000350110.2_Silent_p.L312L			Q9UQ52	CNTN6_HUMAN	contactin 6	312					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGGTCAACTCATTTTTTATG	0.348																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(934-936)CTC>CTG		contactin 6 precursor							72.0	79.0	77.0					3																	1363508		2203	4298	6501	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363508C>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.936C>G	3.37:g.1363508C>G						CNTN6_uc011asj.1_Silent_p.L240L|CNTN6_uc003bpa.2_Silent_p.L312L	p.L312L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1203	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	312					Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.936C>G	CCDS2557.1																																																																																				0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		21	25	0	0	0	0	21	25				
CAPN7	23473	broad.mit.edu	37	3	15276644	15276644	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:15276644G>C	ENST00000253693.2	+	12	1652	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	Y_RNA_ENST00000516276.1_RNA	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	467	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GGATATTAGAGAGTTCAAGGT	0.393																																						uc003bzn.2		NA																	0				ovary(1)	1						c.(1399-1401)GAG>CAG		calpain 7							114.0	114.0	114.0					3																	15276644		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15276644G>C	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1399G>C	3.37:g.15276644G>C	ENSP00000253693:p.Glu467Gln						p.E467Q	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN			12	1669	+			467			Calpain catalytic.			Missense_Mutation	SNP	ENST00000253693.2	37	c.1399G>C	CCDS2624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.788450|2.788450	0.49997|0.49997	.|.	.|.	ENSG00000131375|ENSG00000131375	ENST00000253693|ENST00000415565	D|D	0.88354|0.87256	-2.37|-2.23	5.69|5.69	5.69|5.69	0.88448|0.88448	Peptidase C2, calpain, catalytic domain (3);|.	0.101452|.	0.64402|.	D|.	0.000003|.	D|D	0.90113|0.90113	0.6911|0.6911	L|L	0.46947|0.46947	1.48|1.48	0.52099|0.52099	D|D	0.999941|0.999941	B|.	0.24092|.	0.097|.	B|.	0.30572|.	0.117|.	D|D	0.89946|0.89946	0.4076|0.4076	10|7	0.33940|0.56958	T|D	0.23|0.05	-23.1764|-23.1764	19.4179|19.4179	0.94709|0.94709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	467|.	Q9Y6W3|.	CAN7_HUMAN|.	Q|T	467|204	ENSP00000253693:E467Q|ENSP00000399486:R204T	ENSP00000253693:E467Q|ENSP00000399486:R204T	E|R	+|+	1|2	0|0	CAPN7|CAPN7	15251648|15251648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.884000|7.884000	0.87274|0.87274	2.668000|2.668000	0.90789|0.90789	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.393	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		5	22	0	0	0	0	5	22				
SATB1	6304	broad.mit.edu	37	3	18390856	18390856	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:18390856G>C	ENST00000338745.6	-	11	3832	c.2098C>G	c.(2098-2100)Ctc>Gtc	p.L700V	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.L732V|SATB1_ENST00000454909.2_Missense_Mutation_p.L700V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	700					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGTGCTTGAGATAGTACCGC	0.507																																						uc003cbh.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2098-2100)CTC>GTC		special AT-rich sequence binding protein 1							211.0	207.0	209.0					3																	18390856		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18390856G>C		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2098C>G	3.37:g.18390856G>C	ENSP00000341024:p.Leu700Val					SATB1_uc003cbi.2_Missense_Mutation_p.L732V|SATB1_uc003cbj.2_Missense_Mutation_p.L700V	p.L700V	NM_002971	NP_002962	Q01826	SATB1_HUMAN			11	3833	-			700			Homeobox.		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.2098C>G	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.602345	0.00849	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.96136	-3.92;-3.92;-3.92	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.125508	0.53938	D	0.000052	D	0.85592	0.5732	N	0.02539	-0.55	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.81837	-0.0749	10	0.02654	T	1	-25.0875	15.7196	0.77697	0.0:0.1367:0.8633:0.0	.	732;700	Q01826-2;Q01826	.;SATB1_HUMAN	V	700;700;732	ENSP00000341024:L700V;ENSP00000399708:L700V;ENSP00000399518:L732V	ENSP00000341024:L700V	L	-	1	0	SATB1	18365860	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.870000	0.56070	2.586000	0.87340	0.655000	0.94253	CTC		0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		7	134	0	0	0	0	7	134				
SNRK	54861	broad.mit.edu	37	3	43344765	43344765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:43344765C>T	ENST00000296088.7	+	3	374	c.70C>T	c.(70-72)Cga>Tga	p.R24*	SNRK_ENST00000454177.1_Nonsense_Mutation_p.R24*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R24*|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AACCTTGGGTCGAGGCCATTT	0.423																																						uc003cms.3		NA																	0				ovary(3)|stomach(1)|breast(1)|skin(1)	6						c.(70-72)CGA>TGA		SNF related kinase							129.0	125.0	126.0					3																	43344765		1860	4102	5962	SO:0001587	stop_gained	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43344765C>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.70C>T	3.37:g.43344765C>T	ENSP00000296088:p.Arg24*					SNRK_uc003cmt.3_Nonsense_Mutation_p.R24*|SNRK_uc010hik.2_Nonsense_Mutation_p.R24*|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Nonsense_Mutation_p.R24*	p.R24*	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	402	+			24			ATP (By similarity).|Protein kinase.			Nonsense_Mutation	SNP	ENST00000296088.7	37	c.70C>T	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	C	39	7.743861	0.98465	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	.	.	.	5.58	3.6	0.41247	.	0.054715	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.8458	0.57829	0.3424:0.6576:0.0:0.0	.	.	.	.	X	24	.	ENSP00000296088:R24X	R	+	1	2	SNRK	43319769	0.994000	0.37717	0.998000	0.56505	0.998000	0.95712	3.213000	0.51153	2.615000	0.88500	0.655000	0.94253	CGA		0.423	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		22	27	0	0	0	0	22	27				
MAP4	4134	broad.mit.edu	37	3	47957727	47957727	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:47957727G>A	ENST00000360240.6	-	7	2108	c.1590C>T	c.(1588-1590)ctC>ctT	p.L530L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Silent_p.L547L|MAP4_ENST00000395734.3_Silent_p.L530L	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	530	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CGTTCTTGATGAGAACTACTT	0.502																																						uc003csb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1588-1590)CTC>CTT		microtubule-associated protein 4 isoform 1							139.0	127.0	131.0					3																	47957727		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47957727G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1590C>T	3.37:g.47957727G>A						MAP4_uc003csc.3_Silent_p.L530L|MAP4_uc011bbf.1_Silent_p.L507L|MAP4_uc003csf.3_Silent_p.L547L	p.L530L	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	7	2116	-			530			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1590C>T	CCDS33750.1																																																																																				0.502	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		36	33	0	0	0	0	36	33				
PRICKLE2	166336	broad.mit.edu	37	3	64085380	64085380	+	Missense_Mutation	SNP	T	T	A	rs371812341		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:64085380T>A	ENST00000295902.6	-	8	2467	c.1882A>T	c.(1882-1884)Att>Ttt	p.I628F	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.I684F|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	628					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGTAGCCAATGGGGTTGCTG	0.602																																						uc003dmf.2		NA																	0				ovary(4)|skin(1)	5						c.(1882-1884)ATT>TTT		prickle-like 2							111.0	101.0	105.0					3																	64085380		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085380T>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1882A>T	3.37:g.64085380T>A	ENSP00000295902:p.Ile628Phe						p.I628F	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2468	-		Lung NSC(201;0.136)	628					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1882A>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	T	9.247	1.039722	0.19669	.	.	ENSG00000163637	ENST00000295902	D	0.85556	-2.0	5.62	0.0742	0.14394	.	0.422970	0.24476	N	0.038194	T	0.72078	0.3416	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59101	-0.7517	10	0.44086	T	0.13	-7.7984	9.0004	0.36079	0.0:0.1303:0.5444:0.3252	.	628	Q7Z3G6	PRIC2_HUMAN	F	628	ENSP00000295902:I628F	ENSP00000295902:I628F	I	-	1	0	PRICKLE2	64060420	0.150000	0.22732	0.453000	0.27007	0.976000	0.68499	0.341000	0.19909	-0.219000	0.10003	-0.435000	0.05868	ATT		0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		35	34	0	0	0	0	35	34				
CD80	941	broad.mit.edu	37	3	119246643	119246643	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:119246643C>T	ENST00000264246.3	-	6	1204	c.842G>A	c.(841-843)aGa>aAa	p.R281K	CD80_ENST00000383668.3_Missense_Mutation_p.R155K|CD80_ENST00000478182.1_Missense_Mutation_p.R281K|CD80_ENST00000383669.3_Missense_Mutation_p.R249K	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	281					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	ACTTTCCCTTCTCAATCTCTC	0.453																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(841-843)AGA>AAA		CD80 antigen precursor	Abatacept(DB01281)						289.0	249.0	263.0					3																	119246643		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119246643C>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.842G>A	3.37:g.119246643C>T	ENSP00000264246:p.Arg281Lys					CD80_uc010hqt.1_Missense_Mutation_p.R249K|CD80_uc010hqu.1_Missense_Mutation_p.R155K	p.R281K	NM_005191	NP_005182	P33681	CD80_HUMAN			6	1237	-			281			Cytoplasmic (Potential).		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.842G>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939325	0.34189	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.17691	4.84;4.84;4.79;2.26	3.7	-0.0557	0.13808	.	2.874660	0.01196	N	0.007440	T	0.09247	0.0228	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23190	-1.0195	10	0.06365	T	0.9	.	5.9345	0.19158	0.0:0.3881:0.0:0.6119	.	155;249;281	Q5DTA9;Q5DTB0;P33681	.;.;CD80_HUMAN	K	281;281;249;155	ENSP00000264246:R281K;ENSP00000418364:R281K;ENSP00000373165:R249K;ENSP00000373164:R155K	ENSP00000264246:R281K	R	-	2	0	CD80	120729333	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.058000	0.14301	-0.012000	0.14223	-0.302000	0.09304	AGA		0.453	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		11	95	0	0	0	0	11	95				
PODXL2	50512	broad.mit.edu	37	3	127379318	127379318	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:127379318G>A	ENST00000342480.6	+	3	486	c.447G>A	c.(445-447)atG>atA	p.M149I		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	149					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TGCCCAAGATGAATCTGGTTG	0.512																																						uc003ejq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(445-447)ATG>ATA		podocalyxin-like 2 precursor							66.0	62.0	64.0					3																	127379318		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379318G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.447G>A	3.37:g.127379318G>A	ENSP00000345359:p.Met149Ile						p.M149I	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	471	+			149			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.447G>A	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397716	0.42512	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.37411	1.2	4.65	4.65	0.58169	.	0.719415	0.13408	N	0.390062	T	0.25644	0.0624	N	0.24115	0.695	0.26279	N	0.978301	B	0.18461	0.028	B	0.14023	0.01	T	0.08432	-1.0722	10	0.20519	T	0.43	-8.1674	13.3947	0.60843	0.0:0.0:1.0:0.0	.	149	Q9NZ53	PDXL2_HUMAN	I	149	ENSP00000345359:M149I	ENSP00000304498:M149I	M	+	3	0	PODXL2	128862008	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.643000	0.37217	2.294000	0.77228	0.491000	0.48974	ATG		0.512	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		17	68	0	0	0	0	17	68				
ATP2C1	27032	broad.mit.edu	37	3	130714944	130714944	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:130714944C>T	ENST00000510168.1	+	23	2665	c.2115C>T	c.(2113-2115)ttC>ttT	p.F705F	ATP2C1_ENST00000533801.2_Silent_p.F700F|ATP2C1_ENST00000328560.8_Silent_p.F705F|ATP2C1_ENST00000513801.1_Silent_p.F689F|ATP2C1_ENST00000393221.4_Silent_p.F739F|ATP2C1_ENST00000422190.2_Silent_p.F705F|ATP2C1_ENST00000507488.2_Silent_p.F689F|ATP2C1_ENST00000504381.1_Silent_p.F650F|ATP2C1_ENST00000359644.3_Silent_p.F705F|ATP2C1_ENST00000505330.1_Silent_p.F689F|ATP2C1_ENST00000428331.2_Silent_p.F705F|ATP2C1_ENST00000508532.1_Silent_p.F705F|ATP2C1_ENST00000504948.1_Silent_p.F689F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	705					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCGTTAGATTCCAGCTGAGCA	0.318									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(2113-2115)TTC>TTT		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						86.0	99.0	95.0					3																	130714944		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130714944C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2115C>T	3.37:g.130714944C>T						ATP2C1_uc011blg.1_Silent_p.F739F|ATP2C1_uc011blh.1_Silent_p.F700F|ATP2C1_uc011bli.1_Silent_p.F739F|ATP2C1_uc003enk.2_Silent_p.F689F|ATP2C1_uc003enm.2_Silent_p.F705F|ATP2C1_uc003enn.2_Silent_p.F689F|ATP2C1_uc003eno.2_Silent_p.F705F|ATP2C1_uc003enp.2_Silent_p.F705F|ATP2C1_uc003enq.2_Silent_p.F705F|ATP2C1_uc003enr.2_Silent_p.F705F|ATP2C1_uc003ens.2_Silent_p.F705F|ATP2C1_uc003ent.2_Silent_p.F705F|ATP2C1_uc003enu.2_Silent_p.F383F	p.F705F	NM_014382	NP_055197	P98194	AT2C1_HUMAN			23	2337	+			705			Helical; Name=5; (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.2115C>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972573	0.18736	.	.	ENSG00000017260	ENST00000504612;ENST00000508660	.	.	.	5.75	3.77	0.43336	.	.	.	.	.	T	0.55832	0.1945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49437	-0.8940	4	.	.	.	.	6.9823	0.24709	0.0:0.561:0.0:0.439	.	.	.	.	F	659;223	.	.	S	+	2	0	ATP2C1	132197634	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.949000	0.40313	0.596000	0.29794	0.491000	0.48974	TCC		0.318	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		9	162	0	0	0	0	9	162				
DNAJC13	23317	broad.mit.edu	37	3	132196904	132196904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:132196904C>T	ENST00000260818.6	+	24	2877	c.2629C>T	c.(2629-2631)Ctt>Ttt	p.L877F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	877					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						TTTACAAGCCCTTGCTATTGT	0.333																																						uc003eor.2		NA																	0				ovary(1)|breast(1)	2						c.(2629-2631)CTT>TTT		DnaJ (Hsp40) homolog, subfamily C, member 13							84.0	87.0	86.0					3																	132196904		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196904C>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.2629C>T	3.37:g.132196904C>T	ENSP00000260818:p.Leu877Phe						p.L877F	NM_015268	NP_056083	O75165	DJC13_HUMAN			24	2694	+			877					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2629C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408689	0.42715	.	.	ENSG00000138246	ENST00000260818	T	0.22945	1.93	5.41	3.58	0.41010	Armadillo-type fold (1);	0.155072	0.42964	D	0.000622	T	0.24661	0.0598	L	0.43923	1.385	0.53005	D	0.99996	P	0.50943	0.94	P	0.46144	0.505	T	0.02610	-1.1134	10	0.87932	D	0	.	7.8069	0.29209	0.1489:0.723:0.0:0.1281	.	877	O75165	DJC13_HUMAN	F	877	ENSP00000260818:L877F	ENSP00000260818:L877F	L	+	1	0	DNAJC13	133679594	0.993000	0.37304	1.000000	0.80357	0.004000	0.04260	2.337000	0.43947	1.387000	0.46486	-0.188000	0.12872	CTT		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		22	92	0	0	0	0	22	92				
RFC4	5984	broad.mit.edu	37	3	186507820	186507820	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:186507820C>G	ENST00000392481.2	-	11	1311	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RFC4_ENST00000296273.2_Missense_Mutation_p.E344Q|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Missense_Mutation_p.E317Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	344					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGCAAATGTTCATCAGCACCA	0.378																																						uc003fqz.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(1030-1032)GAA>CAA		replication factor C 4							90.0	85.0	87.0					3																	186507820		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186507820C>G		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.1030G>C	3.37:g.186507820C>G	ENSP00000376272:p.Glu344Gln					RFC4_uc011bsc.1_Missense_Mutation_p.E344Q	p.E344Q	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	11	1253	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		344					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.1030G>C	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956117	0.73902	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273	T;T;T	0.55234	0.53;0.53;0.53	5.96	5.96	0.96718	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.085762	0.85682	D	0.000000	T	0.79435	0.4445	M	0.91196	3.185	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.83131	-0.0113	10	0.87932	D	0	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	344	P35249	RFC4_HUMAN	Q	317;344;344	ENSP00000399769:E317Q;ENSP00000376272:E344Q;ENSP00000296273:E344Q	ENSP00000296273:E344Q	E	-	1	0	RFC4	187990514	1.000000	0.71417	0.996000	0.52242	0.619000	0.37552	5.527000	0.67123	2.832000	0.97577	0.655000	0.94253	GAA		0.378	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		9	79	0	0	0	0	9	79				
RFC4	5984	broad.mit.edu	37	3	186507847	186507847	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:186507847C>T	ENST00000392481.2	-	11	1284	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	RFC4_ENST00000296273.2_Missense_Mutation_p.D335N|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Missense_Mutation_p.D308N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	335					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AGGCATTTGTCAACTTCCTAC	0.378																																						uc003fqz.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(1003-1005)GAC>AAC		replication factor C 4							86.0	82.0	84.0					3																	186507847		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186507847C>T		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.1003G>A	3.37:g.186507847C>T	ENSP00000376272:p.Asp335Asn					RFC4_uc011bsc.1_Missense_Mutation_p.D335N	p.D335N	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	11	1226	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		335					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.1003G>A	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377376	0.42105	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273	T;T;T	0.50001	0.76;0.76;0.76	5.96	5.96	0.96718	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.224668	0.52532	D	0.000061	T	0.64000	0.2559	M	0.92833	3.35	0.48135	D	0.999598	B	0.27264	0.173	B	0.34489	0.184	T	0.64136	-0.6478	10	0.35671	T	0.21	-11.7939	17.9158	0.88950	0.0:1.0:0.0:0.0	.	335	P35249	RFC4_HUMAN	N	308;335;335	ENSP00000399769:D308N;ENSP00000376272:D335N;ENSP00000296273:D335N	ENSP00000296273:D335N	D	-	1	0	RFC4	187990541	0.996000	0.38824	0.130000	0.21974	0.251000	0.25915	3.557000	0.53741	2.832000	0.97577	0.655000	0.94253	GAC		0.378	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		9	71	0	0	0	0	9	71				
EVC	2121	broad.mit.edu	37	4	5811288	5811288	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:5811288G>A	ENST00000264956.6	+	19	2916	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	EVC_ENST00000382674.2_Missense_Mutation_p.R911Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	911					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCTTGGCCCGAGTGCCCCTT	0.552																																						uc003gil.1		NA																	0				ovary(1)|skin(1)	2						c.(2731-2733)CGA>CAA		Ellis van Creveld syndrome protein							90.0	77.0	82.0					4																	5811288		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5811288G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2732G>A	4.37:g.5811288G>A	ENSP00000264956:p.Arg911Gln					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.R911Q	NM_153717	NP_714928	P57679	EVC_HUMAN			19	2916	+		Myeloproliferative disorder(84;0.117)	911						Missense_Mutation	SNP	ENST00000264956.6	37	c.2732G>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640526	0.47153	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.63580	-0.05;-0.05	4.78	3.94	0.45596	.	0.088748	0.47093	N	0.000242	T	0.55481	0.1923	M	0.61703	1.905	0.80722	D	1	P	0.45902	0.868	B	0.38954	0.286	T	0.58457	-0.7633	10	0.59425	D	0.04	.	9.0128	0.36150	0.1033:0.0:0.8967:0.0	.	911	P57679	EVC_HUMAN	Q	911	ENSP00000264956:R911Q;ENSP00000372120:R911Q	ENSP00000264956:R911Q	R	+	2	0	EVC	5862189	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	3.093000	0.50217	1.011000	0.39340	-0.140000	0.14226	CGA		0.552	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			6	49	0	0	0	0	6	49				
BOD1L1	259282	broad.mit.edu	37	4	13606027	13606027	+	Missense_Mutation	SNP	C	C	T	rs79874260	byFrequency	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:13606027C>T	ENST00000040738.5	-	10	2632	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	833	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GTTTTTTCAGCTGACAAGCGT	0.353													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		18333	0.0		0.0	False		,,,				2504	0.0					uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(2497-2499)GCT>ACT		biorientation of chromosomes in cell division		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	108.0	101.0	103.0		2497	-3.1	0.0	4	dbSNP_131	103	0,8596		0,0,4298	no	missense	BOD1L	NM_148894.2	58	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	833/3052	13606027	1,13001	2203	4298	6501	SO:0001583	missense	259282						DNA binding	g.chr4:13606027C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2497G>A	4.37:g.13606027C>T	ENSP00000040738:p.Ala833Thr					BOD1L_uc010idr.1_Missense_Mutation_p.A170T	p.A833T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2614	-			833			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2497G>A	CCDS3411.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.047	0.194323	0.09599	2.27E-4	0.0	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.16	-3.13	0.05266	.	1.110460	0.06987	N	0.820927	T	0.03520	0.0101	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48103	-0.9064	10	0.08381	T	0.77	-0.0156	6.9443	0.24510	0.1432:0.2924:0.0:0.5645	.	833	Q8NFC6	BOD1L_HUMAN	T	833	ENSP00000040738:A833T	ENSP00000040738:A833T	A	-	1	0	BOD1L	13215125	0.000000	0.05858	0.000000	0.03702	0.730000	0.41778	-0.549000	0.06041	-1.282000	0.02396	-0.262000	0.10625	GCT		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		6	17	0	0	0	0	6	17				
UBA6	55236	broad.mit.edu	37	4	68543386	68543386	+	Silent	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:68543386T>A	ENST00000322244.5	-	6	467	c.408A>T	c.(406-408)acA>acT	p.T136T	UBA6_ENST00000420827.2_Silent_p.T136T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	136					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CAGAAGATGATGTGACATGAA	0.308																																						uc003hdg.3		NA																	0					0						c.(406-408)ACA>ACT		ubiquitin-activating enzyme E1-like 2							145.0	143.0	144.0					4																	68543386		2203	4298	6501	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68543386T>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.408A>T	4.37:g.68543386T>A						UBA6_uc003hdi.2_Silent_p.T136T|UBA6_uc003hdj.2_Silent_p.T136T	p.T136T	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			6	460	-			136					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.408A>T	CCDS3516.1																																																																																				0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		28	38	0	0	0	0	28	38				
FDCSP	260436	broad.mit.edu	37	4	71099858	71099858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:71099858C>T	ENST00000317987.5	+	4	324	c.212C>T	c.(211-213)cCa>cTa	p.P71L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	71	Pro-rich.					extracellular region (GO:0005576)											TTTCCTATTCCAATACCTGAA	0.408																																						uc003hfd.2		NA																	0				central_nervous_system(1)	1						c.(211-213)CCA>CTA		chromosome 4 open reading frame 7 precursor							139.0	134.0	136.0					4																	71099858		2203	4300	6503	SO:0001583	missense	260436					extracellular region		g.chr4:71099858C>T	AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.212C>T	4.37:g.71099858C>T	ENSP00000318437:p.Pro71Leu						p.P71L	NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN			4	297	+			71			Pro-rich.			Missense_Mutation	SNP	ENST00000317987.5	37	c.212C>T	CCDS3537.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253310	0.22965	.	.	ENSG00000181617	ENST00000317987	.	.	.	3.9	2.14	0.27477	.	0.359390	0.20544	N	0.090242	T	0.33265	0.0857	.	.	.	0.09310	N	1	B	0.28552	0.215	B	0.33799	0.17	T	0.32079	-0.9920	8	0.87932	D	0	-0.4294	6.5713	0.22541	0.0:0.7772:0.0:0.2228	.	71	Q8NFU4	FDSCP_HUMAN	L	71	.	ENSP00000318437:P71L	P	+	2	0	C4orf7	71134447	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.668000	0.37481	0.605000	0.29947	0.650000	0.86243	CCA		0.408	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251549.1	NM_152997		42	85	0	0	0	0	42	85				
G3BP2	9908	broad.mit.edu	37	4	76572243	76572243	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:76572243C>G	ENST00000359707.4	-	10	1812	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	G3BP2_ENST00000395719.3_Missense_Mutation_p.D343H|G3BP2_ENST00000357854.3_Missense_Mutation_p.D310H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	343	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTTTCATCAATATCATGT	0.338																																						uc003hir.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1027-1029)GAT>CAT		Ras-GTPase activating protein SH3 domain-binding							77.0	74.0	75.0					4																	76572243		2203	4299	6502	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76572243C>G	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1027G>C	4.37:g.76572243C>G	ENSP00000352738:p.Asp343His					G3BP2_uc003his.2_Missense_Mutation_p.D343H|G3BP2_uc003hit.2_Missense_Mutation_p.D310H	p.D343H	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		10	1192	-			343			RRM.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1027G>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093039	0.94149	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.75938	-0.98;-0.98;-0.98	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042293	0.85682	D	0.000000	D	0.85296	0.5664	M	0.63169	1.94	0.80722	D	1	D;D	0.65815	0.995;0.99	P;D	0.69824	0.823;0.966	D	0.83505	0.0077	10	0.48119	T	0.1	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	310;343	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	H	343;343;310	ENSP00000379069:D343H;ENSP00000352738:D343H;ENSP00000350518:D310H	ENSP00000350518:D310H	D	-	1	0	G3BP2	76791267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	GAT		0.338	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		8	41	0	0	0	0	8	41				
PTPN13	5783	broad.mit.edu	37	4	87671658	87671658	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:87671658G>A	ENST00000411767.2	+	18	2749	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Missense_Mutation_p.E896K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E896K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E896K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	896					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTCCAAGCAGAGTCTGTTAG	0.438																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(2686-2688)GAG>AAG		protein tyrosine phosphatase, non-receptor type							157.0	155.0	156.0					4																	87671658		1908	4133	6041	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87671658G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2686G>A	4.37:g.87671658G>A	ENSP00000407249:p.Glu896Lys					PTPN13_uc003hpy.2_Missense_Mutation_p.E896K|PTPN13_uc003hqa.2_Missense_Mutation_p.E896K|PTPN13_uc003hqb.2_Intron	p.E896K	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3166	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	896					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2686G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643770	0.87859	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52057	0.7;0.71;0.68;0.71	5.9	5.9	0.94986	.	0.133034	0.33712	N	0.004640	T	0.54287	0.1849	L	0.56769	1.78	0.53005	D	0.999962	P;P;P	0.52316	0.835;0.952;0.95	B;P;P	0.48334	0.39;0.524;0.574	T	0.43540	-0.9385	10	0.22109	T	0.4	.	20.274	0.98482	0.0:0.0:1.0:0.0	.	896;896;896	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	K	896;896;896;896;864	ENSP00000408368:E896K;ENSP00000394794:E896K;ENSP00000407249:E896K;ENSP00000426626:E896K	ENSP00000349909:E864K	E	+	1	0	PTPN13	87890682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.569000	0.82380	2.797000	0.96272	0.650000	0.86243	GAG		0.438	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			9	176	0	0	0	0	9	176				
TRMT10A	93587	broad.mit.edu	37	4	100474995	100474995	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:100474995C>T	ENST00000273962.3	-	6	904	c.592G>A	c.(592-594)Gat>Aat	p.D198N	TRMT10A_ENST00000394876.2_Missense_Mutation_p.D198N|TRMT10A_ENST00000394877.3_Missense_Mutation_p.D198N	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	198	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TTTGATTCATCTAATTCCTTC	0.323																																						uc003huy.2		NA																	0				ovary(2)|breast(1)	3						c.(592-594)GAT>AAT		RNA (guanine-9-) methyltransferase domain							136.0	128.0	131.0					4																	100474995		2202	4299	6501	SO:0001583	missense	93587						methyltransferase activity	g.chr4:100474995C>T	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.592G>A	4.37:g.100474995C>T	ENSP00000273962:p.Asp198Asn					RG9MTD2_uc003huz.3_Missense_Mutation_p.D198N|RG9MTD2_uc003hva.3_Missense_Mutation_p.D198N	p.D198N	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)	6	905	-			198					B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.592G>A	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974428	0.92919	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	M	0.62266	1.93	0.80722	D	1	P	0.37370	0.592	B	0.41174	0.349	T	0.03364	-1.1044	10	0.41790	T	0.15	-27.7138	19.8946	0.96949	0.0:1.0:0.0:0.0	.	198	Q8TBZ6	RG9D2_HUMAN	N	198	ENSP00000378343:D198N;ENSP00000273962:D198N;ENSP00000378342:D198N;ENSP00000397551:D198N;ENSP00000423628:D198N	ENSP00000273962:D198N	D	-	1	0	RG9MTD2	100694018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.162000	0.77515	2.937000	0.99478	0.650000	0.86243	GAT		0.323	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		6	45	0	0	0	0	6	45				
MFSD8	256471	broad.mit.edu	37	4	128878725	128878725	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:128878725C>G	ENST00000296468.3	-	3	212	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	MFSD8_ENST00000513559.1_5'UTR|MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	29					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TAATGCTCTTCAGTCTCTAAA	0.299																																						uc003ifp.2		NA																	0				ovary(1)|liver(1)	2						c.(85-87)GAA>CAA		major facilitator superfamily domain containing							108.0	118.0	114.0					4																	128878725		2203	4296	6499	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128878725C>G	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.85G>C	4.37:g.128878725C>G	ENSP00000296468:p.Glu29Gln					MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Missense_Mutation_p.E29Q|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR	p.E29Q	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			3	248	-			29			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.85G>C	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637151	0.14386	.	.	ENSG00000164073	ENST00000296468	D	0.85171	-1.95	4.78	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);	0.241904	0.41294	N	0.000901	T	0.67021	0.2849	N	0.04508	-0.205	0.80722	D	1	B;B	0.16396	0.017;0.002	B;B	0.12837	0.008;0.004	T	0.55585	-0.8118	10	0.17369	T	0.5	-10.2635	12.2188	0.54423	0.0:0.6955:0.3045:0.0	.	29;29	B7Z280;Q8NHS3	.;MFSD8_HUMAN	Q	29	ENSP00000296468:E29Q	ENSP00000296468:E29Q	E	-	1	0	MFSD8	129098175	0.592000	0.26832	0.993000	0.49108	0.545000	0.35147	0.750000	0.26334	0.554000	0.29061	0.655000	0.94253	GAA		0.299	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		15	92	0	0	0	0	15	92				
FHDC1	85462	broad.mit.edu	37	4	153897181	153897181	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:153897181G>A	ENST00000511601.1	+	12	2926	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	FHDC1_ENST00000260008.3_Missense_Mutation_p.R913K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	913									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTCCAGCAGAGGCGCCGGC	0.672																																						uc003inf.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2737-2739)AGA>AAA		FH2 domain containing 1							25.0	28.0	27.0					4																	153897181		2203	4298	6501	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897181G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2738G>A	4.37:g.153897181G>A	ENSP00000427567:p.Arg913Lys						p.R913K	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	2813	+	all_hematologic(180;0.093)		913						Missense_Mutation	SNP	ENST00000511601.1	37	c.2738G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	6.695	0.496892	0.12762	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41400	1.0;1.0	4.98	4.98	0.66077	.	1.184340	0.05873	N	0.625027	T	0.32734	0.0839	N	0.20986	0.625	0.09310	N	0.999999	B	0.28350	0.208	B	0.28011	0.085	T	0.14254	-1.0479	10	0.20046	T	0.44	.	11.4325	0.50050	0.1326:0.0:0.8674:0.0	.	913	Q9C0D6	FHDC1_HUMAN	K	913	ENSP00000427567:R913K;ENSP00000260008:R913K	ENSP00000260008:R913K	R	+	2	0	FHDC1	154116631	0.990000	0.36364	0.084000	0.20598	0.021000	0.10359	4.628000	0.61282	2.311000	0.77944	0.462000	0.41574	AGA		0.672	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		5	30	0	0	0	0	5	30				
DCHS2	54798	broad.mit.edu	37	4	155157796	155157796	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:155157796A>T	ENST00000357232.4	-	25	6642	c.6643T>A	c.(6643-6645)Tat>Aat	p.Y2215N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2215	Cadherin 20. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGTGTGATAGCTCAGGCTG	0.488																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(6643-6645)TAT>AAT		dachsous 2 isoform 1							90.0	89.0	89.0					4																	155157796		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157796A>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6643T>A	4.37:g.155157796A>T	ENSP00000349768:p.Tyr2215Asn						p.Y2215N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6643	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2215			Cadherin 20.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6643T>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440480	0.43326	.	.	ENSG00000197410	ENST00000357232	T	0.66638	-0.22	6.04	3.68	0.42216	Cadherin (3);Cadherin-like (1);	0.184484	0.37809	N	0.001935	D	0.86727	0.6002	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88671	0.3195	10	0.72032	D	0.01	.	9.8895	0.41281	0.8642:0.0:0.1358:0.0	.	2215	Q6V1P9	PCD23_HUMAN	N	2215	ENSP00000349768:Y2215N	ENSP00000349768:Y2215N	Y	-	1	0	DCHS2	155377246	1.000000	0.71417	0.024000	0.17045	0.251000	0.25915	6.339000	0.72969	1.121000	0.41925	0.460000	0.39030	TAT		0.488	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	69	0	0	0	0	4	69				
FASTKD3	79072	broad.mit.edu	37	5	7867461	7867461	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867461C>T	ENST00000264669.5	-	2	872	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	246					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCAATTTTTCACCTTGAAGT	0.373																																						uc003jeb.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(736-738)GAA>AAA		FAST kinase domains 3							81.0	85.0	84.0					5																	7867461		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867461C>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.736G>A	5.37:g.7867461C>T	ENSP00000264669:p.Glu246Lys					FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.E246K	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	873	-			246					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.736G>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	9.835	1.189555	0.21954	.	.	ENSG00000124279	ENST00000264669	T	0.25912	1.77	4.85	-2.7	0.06004	.	0.615082	0.17838	N	0.160299	T	0.11965	0.0291	L	0.31120	0.905	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.39663	-0.9603	10	0.06099	T	0.92	-4.7959	7.9156	0.29816	0.0:0.3162:0.1158:0.568	.	246	Q14CZ7	FAKD3_HUMAN	K	246	ENSP00000264669:E246K	ENSP00000264669:E246K	E	-	1	0	FASTKD3	7920461	0.002000	0.14202	0.000000	0.03702	0.588000	0.36517	-0.068000	0.11561	-0.218000	0.10018	0.650000	0.86243	GAA		0.373	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		9	119	0	0	0	0	9	119				
FASTKD3	79072	broad.mit.edu	37	5	7867642	7867642	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867642C>G	ENST00000264669.5	-	2	691	c.555G>C	c.(553-555)ctG>ctC	p.L185L	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	185					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCAACAGAATCAGAGCTTGCA	0.433																																						uc003jeb.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(553-555)CTG>CTC		FAST kinase domains 3							81.0	81.0	81.0					5																	7867642		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867642C>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.555G>C	5.37:g.7867642C>G						FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.L185L	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	692	-			185					Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.555G>C	CCDS3873.1																																																																																				0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		10	127	0	0	0	0	10	127				
FASTKD3	79072	broad.mit.edu	37	5	7867698	7867698	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867698C>G	ENST00000264669.5	-	2	635	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	167					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCCTTTTCAAACTGAAAG	0.413																																						uc003jeb.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(499-501)GAA>CAA		FAST kinase domains 3							65.0	62.0	63.0					5																	7867698		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867698C>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.499G>C	5.37:g.7867698C>G	ENSP00000264669:p.Glu167Gln					FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.E167Q	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	636	-			167					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.499G>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494287	0.44352	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.28069	1.63;1.63;1.63	4.58	3.7	0.42460	.	0.109437	0.64402	D	0.000008	T	0.27933	0.0688	M	0.72894	2.215	0.47374	D	0.999404	P	0.44578	0.838	B	0.37692	0.256	T	0.10222	-1.0639	10	0.14252	T	0.57	-7.4221	10.6279	0.45519	0.1488:0.7077:0.1435:0.0	.	167	Q14CZ7	FAKD3_HUMAN	Q	167;167;150	ENSP00000264669:E167Q;ENSP00000426008:E167Q;ENSP00000422443:E150Q	ENSP00000264669:E167Q	E	-	1	0	FASTKD3	7920698	0.993000	0.37304	0.002000	0.10522	0.094000	0.18550	3.041000	0.49807	1.138000	0.42230	0.655000	0.94253	GAA		0.413	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		8	108	0	0	0	0	8	108				
SEMA5A	9037	broad.mit.edu	37	5	9052056	9052056	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:9052056G>T	ENST00000382496.5	-	20	3439	c.2774C>A	c.(2773-2775)cCc>cAc	p.P925H	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	925	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGCCCATGGGGAACAGGAG	0.572																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2773-2775)CCC>CAC		semaphorin 5A precursor							40.0	43.0	42.0					5																	9052056		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052056G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2774C>A	5.37:g.9052056G>T	ENSP00000371936:p.Pro925His						p.P925H	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			20	3486	-			925			Extracellular (Potential).|TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2774C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094844	0.76870	.	.	ENSG00000112902	ENST00000382496	T	0.50813	0.73	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	M	0.86864	2.845	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.73833	-0.3858	10	0.40728	T	0.16	.	16.4228	0.83772	0.0:0.0:1.0:0.0	.	925	Q13591	SEM5A_HUMAN	H	925	ENSP00000371936:P925H	ENSP00000371936:P925H	P	-	2	0	SEMA5A	9105056	1.000000	0.71417	0.877000	0.34402	0.550000	0.35303	9.550000	0.98110	2.540000	0.85666	0.655000	0.94253	CCC		0.572	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			10	32	1	0	0.000978159	0.00101951	10	32				
RANBP3L	202151	broad.mit.edu	37	5	36251470	36251470	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:36251470G>A	ENST00000296604.3	-	13	1784	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	RANBP3L_ENST00000502994.1_Silent_p.C458C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	433					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAGCTTTCGCAGTTCAATT	0.373																																						uc003jkh.2		NA																	0				ovary(1)	1						c.(1297-1299)TGC>TGT		RAN binding protein 3-like isoform 2							113.0	99.0	104.0					5																	36251470		2203	4300	6503	SO:0001819	synonymous_variant	202151				intracellular transport			g.chr5:36251470G>A	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1299C>T	5.37:g.36251470G>A						RANBP3L_uc011cow.1_Silent_p.C458C	p.C433C	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		13	1792	-	all_lung(31;4.52e-05)		433					B7Z866|E9PGP9|Q96LK2	Silent	SNP	ENST00000296604.3	37	c.1299C>T	CCDS3918.1																																																																																				0.373	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		19	37	0	0	0	0	19	37				
EGFLAM	133584	broad.mit.edu	37	5	38407099	38407099	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38407099A>G	ENST00000354891.3	+	8	1344	c.998A>G	c.(997-999)aAg>aGg	p.K333R	EGFLAM_ENST00000322350.5_Missense_Mutation_p.K333R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.K99R|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	333					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGAAAGGGGAAGAATGGTGTG	0.532																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(997-999)AAG>AGG		EGF-like, fibronectin type III and laminin G							143.0	135.0	138.0					5																	38407099		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407099A>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.998A>G	5.37:g.38407099A>G	ENSP00000346964:p.Lys333Arg					EGFLAM_uc003jlb.1_Missense_Mutation_p.K333R|EGFLAM_uc003jle.1_Missense_Mutation_p.K99R|EGFLAM_uc003jlf.1_Intron	p.K333R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			8	1322	+	all_lung(31;0.000385)		333					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.998A>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286255	0.23478	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79141	0.87;0.7;-1.24	5.91	2.08	0.27032	.	0.521087	0.23444	N	0.048113	T	0.60856	0.2301	L	0.29908	0.895	0.09310	N	0.999993	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.41858	-0.9485	10	0.21540	T	0.41	-3.7249	6.8762	0.24149	0.2163:0.6556:0.1282:0.0	.	99;333;333	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	R	333;333;99;99	ENSP00000346964:K333R;ENSP00000313084:K333R;ENSP00000337607:K99R	ENSP00000313084:K333R	K	+	2	0	EGFLAM	38442856	0.438000	0.25602	0.025000	0.17156	0.006000	0.05464	2.227000	0.42972	0.412000	0.25729	0.533000	0.62120	AAG		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		29	106	0	0	0	0	29	106				
RICTOR	253260	broad.mit.edu	37	5	38944623	38944623	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38944623C>T	ENST00000357387.3	-	36	4868	c.4838G>A	c.(4837-4839)cGc>cAc	p.R1613H	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1637H	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AACTTCTTTGCGAAGGAGTAT	0.333																																						uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4837-4839)CGC>CAC		rapamycin-insensitive companion of mTOR							106.0	103.0	104.0					5																	38944623		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38944623C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4838G>A	5.37:g.38944623C>T	ENSP00000349959:p.Arg1613His					RICTOR_uc003jlo.2_Missense_Mutation_p.R1637H|RICTOR_uc010ivf.2_Missense_Mutation_p.R1290H	p.R1613H	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			36	4862	-	all_lung(31;0.000396)		1613						Missense_Mutation	SNP	ENST00000357387.3	37	c.4838G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397964	0.96030	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54071	0.61;0.59	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.72855	-0.4166	10	0.87932	D	0	-9.736	19.4767	0.94992	0.0:1.0:0.0:0.0	.	1613;1637	Q6R327;Q6R327-3	RICTR_HUMAN;.	H	1613;1637	ENSP00000349959:R1613H;ENSP00000296782:R1637H	ENSP00000296782:R1637H	R	-	2	0	RICTOR	38980380	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.429000	0.66495	2.601000	0.87937	0.563000	0.77884	CGC		0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		28	86	0	0	0	0	28	86				
ITGA2	3673	broad.mit.edu	37	5	52371079	52371079	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:52371079A>T	ENST00000296585.5	+	23	2913	c.2770A>T	c.(2770-2772)Aat>Tat	p.N924Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	924					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAAGGCTGATAATTTGGTCAA	0.368																																						uc003joy.2		NA																	0				lung(1)	1						c.(2770-2772)AAT>TAT		integrin alpha 2 precursor							71.0	72.0	72.0					5																	52371079		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52371079A>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2770A>T	5.37:g.52371079A>T	ENSP00000296585:p.Asn924Tyr					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.N848Y|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.N924Y	NM_002203	NP_002194	P17301	ITA2_HUMAN			23	2913	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	924			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2770A>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560566	0.86335	.	.	ENSG00000164171	ENST00000296585	T	0.56444	0.46	6.16	6.16	0.99307	Integrin alpha-2 (1);	0.045588	0.85682	D	0.000000	T	0.69611	0.3130	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71533	-0.4564	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	924;924	E7ESP4;P17301	.;ITA2_HUMAN	Y	924	ENSP00000296585:N924Y	ENSP00000296585:N924Y	N	+	1	0	ITGA2	52406836	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	8.186000	0.89706	2.367000	0.80283	0.528000	0.53228	AAT		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		9	27	0	0	0	0	9	27				
CCDC125	202243	broad.mit.edu	37	5	68616157	68616157	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:68616157C>G	ENST00000396496.2	-	2	318	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CCDC125_ENST00000383374.2_Missense_Mutation_p.E71Q|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.E71Q			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	71						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AAACTCGCTTCATTTCTTTCT	0.388																																						uc003jvv.1		NA																	0					0						c.(211-213)GAA>CAA		coiled-coil domain containing 125							184.0	179.0	181.0					5																	68616157		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68616157C>G	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.211G>C	5.37:g.68616157C>G	ENSP00000379754:p.Glu71Gln					CCDC125_uc003jvx.1_Missense_Mutation_p.E71Q|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.E71Q	p.E71Q	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	254	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	71					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.211G>C	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	c	8.896	0.955090	0.18507	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.44482	0.92;0.92;2.59	5.24	1.21	0.21127	.	0.718797	0.13583	N	0.377218	T	0.26919	0.0659	L	0.36672	1.1	0.09310	N	1	B;B	0.32160	0.358;0.231	B;B	0.29353	0.101;0.082	T	0.16808	-1.0390	10	0.15499	T	0.54	-0.5859	7.9589	0.30060	0.0:0.6141:0.0:0.3859	.	71;71	F8W912;Q86Z20	.;CC125_HUMAN	Q	71	ENSP00000379754:E71Q;ENSP00000379756:E71Q;ENSP00000372865:E71Q	ENSP00000372865:E71Q	E	-	1	0	CCDC125	68651913	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	0.322000	0.19576	0.258000	0.21686	0.556000	0.70494	GAA		0.388	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		54	56	0	0	0	0	54	56				
POLK	51426	broad.mit.edu	37	5	74879221	74879221	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:74879221C>G	ENST00000241436.4	+	8	1210	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	POLK_ENST00000380481.3_Missense_Mutation_p.I256M|POLK_ENST00000352007.5_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.I346M|POLK_ENST00000504026.1_Missense_Mutation_p.I346M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	346	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGGACTTCATCAAGGATTTAC	0.323								DNA polymerases (catalytic subunits)																														uc003kdw.2		NA																	0				ovary(2)|kidney(2)	4						c.(1036-1038)ATC>ATG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							100.0	97.0	98.0					5																	74879221		2203	4297	6500	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74879221C>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1038C>G	5.37:g.74879221C>G	ENSP00000241436:p.Ile346Met					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Missense_Mutation_p.I346M|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.I256M|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.I256M|POLK_uc003kee.2_Missense_Mutation_p.I346M|POLK_uc003kef.2_Missense_Mutation_p.I256M	p.I346M	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	8	1134	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	346			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1038C>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745494	0.30955	.	.	ENSG00000122008	ENST00000241436;ENST00000515295;ENST00000504026;ENST00000380481	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.32	4.46	0.54185	DNA-repair protein, UmuC-like, N-terminal (1);DNA polymerase type-Y, HhH motif (1);	0.152050	0.64402	D	0.000015	T	0.68513	0.3009	N	0.20986	0.625	0.40623	D	0.981786	P;P;P	0.50943	0.553;0.548;0.94	B;B;P	0.60117	0.34;0.269;0.869	T	0.65619	-0.6124	10	0.25751	T	0.34	-9.5575	10.3521	0.43943	0.1343:0.7946:0.0:0.0711	.	346;346;346	Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;POLK_HUMAN	M	346;346;346;256	ENSP00000241436:I346M;ENSP00000424174:I346M;ENSP00000425075:I346M;ENSP00000369848:I256M	ENSP00000241436:I346M	I	+	3	3	POLK	74914977	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.636000	0.24644	1.250000	0.43966	0.591000	0.81541	ATC		0.323	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		17	37	0	0	0	0	17	37				
SV2C	22987	broad.mit.edu	37	5	75490760	75490760	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:75490760C>T	ENST00000502798.2	+	3	1039	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SV2C_ENST00000322285.7_Silent_p.L199L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	199					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TAGTGTACCTCGGGATGATGG	0.468																																						uc003kei.1		NA																	0				skin(1)	1						c.(595-597)CTC>CTT		synaptic vesicle glycoprotein 2C							245.0	240.0	242.0					5																	75490760		1993	4153	6146	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75490760C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.597C>T	5.37:g.75490760C>T							p.L199L	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	3	731	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	199			Helical; (Potential).		Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.597C>T	CCDS43331.1																																																																																				0.468	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			13	125	0	0	0	0	13	125				
CMYA5	202333	broad.mit.edu	37	5	79030703	79030703	+	Missense_Mutation	SNP	A	A	G	rs375929849		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:79030703A>G	ENST00000446378.2	+	2	6146	c.6115A>G	c.(6115-6117)Aaa>Gaa	p.K2039E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2039					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGCCAGGAAAAAATTAAACT	0.428																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(6115-6117)AAA>GAA		cardiomyopathy associated 5		A	GLU/LYS	0,3652		0,0,1826	56.0	57.0	57.0		6115	4.0	0.5	5		57	1,8155		0,1,4077	no	missense	CMYA5	NM_153610.3	56	0,1,5903	GG,GA,AA		0.0123,0.0,0.0085	benign	2039/4070	79030703	1,11807	1826	4078	5904	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030703A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6115A>G	5.37:g.79030703A>G	ENSP00000394770:p.Lys2039Glu						p.K2039E	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6187	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2039					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6115A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	0.216	-1.032255	0.02029	0.0	1.23E-4	ENSG00000164309	ENST00000446378	T	0.33216	1.42	5.83	4.02	0.46733	.	0.189279	0.26119	N	0.026224	T	0.08626	0.0214	N	0.01352	-0.895	0.20074	N	0.999932	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.02654	T	1	.	8.7939	0.34868	0.1826:0.0:0.8174:0.0	.	2039	Q8N3K9	CMYA5_HUMAN	E	2039	ENSP00000394770:K2039E	ENSP00000394770:K2039E	K	+	1	0	CMYA5	79066459	1.000000	0.71417	0.473000	0.27253	0.358000	0.29455	1.782000	0.38654	1.450000	0.47717	-0.375000	0.07067	AAA		0.428	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		23	22	0	0	0	0	23	22				
PCDHA2	56146	broad.mit.edu	37	5	140175902	140175902	+	Silent	SNP	C	C	T	rs376199248		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140175902C>T	ENST00000526136.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA2_ENST00000378132.1_Silent_p.N451N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.N451N|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCGCCGGCGT	0.647																																						uc003lhd.2		NA																	0				ovary(4)	4						c.(1351-1353)AAC>AAT		protocadherin alpha 2 isoform 1 precursor		C	,,,	1,4405	2.1+/-5.4	0,1,2202	79.0	79.0	79.0		,1353,,1353	2.1	1.0	5		79	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,451/949,,451/825	140175902	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175902C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1353C>T	5.37:g.140175902C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N451N|PCDHA2_uc011czy.1_Silent_p.N451N	p.N451N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1459	+			451			Cadherin 4.|Extracellular (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1353C>T	CCDS54914.1																																																																																				0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		39	44	0	0	0	0	39	44				
PCDHB6	56130	broad.mit.edu	37	5	140529865	140529865	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140529865G>C	ENST00000231136.1	+	1	27	c.27G>C	c.(25-27)aaG>aaC	p.K9N	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	9					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAGAACAAGAAAAGGCAAG	0.433																																						uc003lir.2		NA																	0				skin(1)	1						c.(25-27)AAG>AAC		protocadherin beta 6 precursor							153.0	152.0	152.0					5																	140529865		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140529865G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.27G>C	5.37:g.140529865G>C	ENSP00000231136:p.Lys9Asn					PCDHB6_uc011dah.1_5'UTR	p.K9N	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	27	+			9					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.27G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681536	0.29872	.	.	ENSG00000113211	ENST00000231136	T	0.53423	0.62	4.0	-0.514	0.11958	.	.	.	.	.	T	0.32556	0.0833	L	0.36672	1.1	0.80722	D	1	B	0.20887	0.049	B	0.25759	0.063	T	0.15983	-1.0418	9	0.72032	D	0.01	.	3.7928	0.08727	0.0945:0.2955:0.4593:0.1506	.	9	Q9Y5E3	PCDB6_HUMAN	N	9	ENSP00000231136:K9N	ENSP00000231136:K9N	K	+	3	2	PCDHB6	140510049	0.713000	0.27926	0.435000	0.26784	0.018000	0.09664	-0.288000	0.08377	0.074000	0.16767	-0.314000	0.08810	AAG		0.433	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		15	57	0	0	0	0	15	57				
PCDHGB4	8641	broad.mit.edu	37	5	140768638	140768638	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140768638C>G	ENST00000519479.1	+	1	1187	c.1187C>G	c.(1186-1188)tCa>tGa	p.S396*	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	396	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACTTCTTCAAGAAACACG	0.418																																						uc003lkc.1		NA																	0					0						c.(1186-1188)TCA>TGA		protocadherin gamma subfamily B, 4 isoform 1							117.0	118.0	118.0					5																	140768638		1904	4124	6028	SO:0001587	stop_gained	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768638C>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1187C>G	5.37:g.140768638C>G	ENSP00000428288:p.Ser396*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Nonsense_Mutation_p.S396*	p.S396*	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1187	+			396			Cadherin 4.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Nonsense_Mutation	SNP	ENST00000519479.1	37	c.1187C>G	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.069936	0.76301	.	.	ENSG00000253953	ENST00000519479	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	14.4491	0.67372	0.1478:0.8522:0.0:0.0	.	.	.	.	X	396	.	ENSP00000428288:S396X	S	+	2	0	PCDHGB4	140748822	0.000000	0.05858	0.009000	0.14445	0.016000	0.09150	0.567000	0.23608	2.572000	0.86782	0.655000	0.94253	TCA		0.418	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		6	77	0	0	0	0	6	77				
RNF14	9604	broad.mit.edu	37	5	141353158	141353158	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:141353158C>T	ENST00000394520.2	+	3	314	c.5C>T	c.(4-6)tCg>tTg	p.S2L	RNF14_ENST00000394515.3_Missense_Mutation_p.S2L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.S2L|RNF14_ENST00000347642.3_Missense_Mutation_p.S2L|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Missense_Mutation_p.S2L|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.S2L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	2					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S2L(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCCTTATGTCGTCAGAAGAT	0.463																																						uc003lly.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(4-6)TCG>TTG		ring finger protein 14 isoform 1							83.0	84.0	83.0					5																	141353158		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141353158C>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.5C>T	5.37:g.141353158C>T	ENSP00000378028:p.Ser2Leu					RNF14_uc003llz.2_Missense_Mutation_p.S2L|RNF14_uc003lma.2_Missense_Mutation_p.S2L|RNF14_uc003lmb.2_5'UTR|RNF14_uc003lmc.2_Missense_Mutation_p.S2L|RNF14_uc011dbg.1_Missense_Mutation_p.S2L|RNF14_uc011dbh.1_Missense_Mutation_p.S2L|RNF14_uc003lmd.2_Missense_Mutation_p.S2L	p.S2L	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	2	44	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	2					A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.5C>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124580	0.77436	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000506938;ENST00000512565;ENST00000394515;ENST00000507163;ENST00000394519;ENST00000506004;ENST00000507291	D;D;D;D;D;D;D	0.91792	-2.36;-2.36;-2.36;-2.91;-2.9;-1.97;-2.36	5.82	5.82	0.92795	Ubiquitin-conjugating enzyme/RWD-like (1);	0.105878	0.64402	D	0.000004	D	0.92001	0.7466	L	0.50333	1.59	0.54753	D	0.999983	D;D;P	0.57899	0.981;0.981;0.739	P;B;B	0.46685	0.524;0.446;0.091	D	0.92511	0.6016	10	0.72032	D	0.01	.	20.0809	0.97775	0.0:1.0:0.0:0.0	.	2;2;2	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	L	2	ENSP00000348462:S2L;ENSP00000378028:S2L;ENSP00000324956:S2L;ENSP00000442490:S2L;ENSP00000426832:S2L;ENSP00000378023:S2L;ENSP00000378027:S2L	ENSP00000324956:S2L	S	+	2	0	RNF14	141333342	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.735000	0.68587	2.753000	0.94483	0.460000	0.39030	TCG		0.463	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		8	37	0	0	0	0	8	37				
ABLIM3	22885	broad.mit.edu	37	5	148619423	148619423	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:148619423C>T	ENST00000506113.1	+	12	1658	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	ABLIM3_ENST00000508983.1_Silent_p.S392S|ABLIM3_ENST00000356541.3_Silent_p.S330S|ABLIM3_ENST00000504238.1_Silent_p.S330S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.S392S|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Silent_p.S330S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	392					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCTCCCGCTCACCTC	0.627																																						uc003lpy.2		NA																	0				ovary(2)|skin(1)	3						c.(1174-1176)TCC>TCT		actin binding LIM protein family, member 3							75.0	72.0	73.0					5																	148619423		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619423C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1176C>T	5.37:g.148619423C>T						ABLIM3_uc003lpz.1_Silent_p.S392S|ABLIM3_uc003lqa.1_Silent_p.S338S|ABLIM3_uc003lqb.2_Silent_p.S330S|ABLIM3_uc003lqc.1_Silent_p.S392S|ABLIM3_uc003lqd.1_Silent_p.S330S|ABLIM3_uc003lqf.2_Silent_p.S330S|ABLIM3_uc003lqe.1_Silent_p.S330S	p.S392S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1427	+			392					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.1176C>T	CCDS4294.1																																																																																				0.627	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		35	35	0	0	0	0	35	35				
PDGFRB	5159	broad.mit.edu	37	5	149516593	149516593	+	Silent	SNP	C	C	T	rs201570042		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:149516593C>T	ENST00000261799.4	-	2	487	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	6					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCTGGCATCGCACCCGGAA	0.647			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(16-18)GCG>GCA		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						59.0	57.0	57.0					5																	149516593		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149516593C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.18G>A	5.37:g.149516593C>T						PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.A6A	p.A6A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	487	-		all_hematologic(541;0.224)	6					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.18G>A	CCDS4303.1																																																																																				0.647	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		3	21	0	0	0	0	3	21				
GABRA1	2554	broad.mit.edu	37	5	161322867	161322867	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:161322867C>A	ENST00000428797.2	+	10	1407	c.1052C>A	c.(1051-1053)cCa>cAa	p.P351Q	GABRA1_ENST00000444819.1_Missense_Mutation_p.P351Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P351Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.P351Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.P351Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.P351Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	351					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGTGTGGTTCCAGAAAAGGTA	0.398																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1051-1053)CCA>CAA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						181.0	166.0	171.0					5																	161322867		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161322867C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1052C>A	5.37:g.161322867C>A	ENSP00000393097:p.Pro351Gln					GABRA1_uc010jix.2_Missense_Mutation_p.P351Q|GABRA1_uc010jiy.2_Missense_Mutation_p.P351Q|GABRA1_uc003lyx.3_Missense_Mutation_p.P351Q|GABRA1_uc010jiz.2_Missense_Mutation_p.P351Q|GABRA1_uc010jja.2_Missense_Mutation_p.P351Q|GABRA1_uc010jjb.2_Missense_Mutation_p.P351Q	p.P351Q	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1520	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	351			Cytoplasmic (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1052C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577907	0.45902	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.242882	0.42420	D	0.000718	T	0.75095	0.3803	L	0.29908	0.895	0.80722	D	1	P	0.45044	0.849	B	0.43990	0.438	T	0.72360	-0.4317	10	0.21014	T	0.42	.	18.9268	0.92548	0.0:1.0:0.0:0.0	.	351	P14867	GBRA1_HUMAN	Q	351	ENSP00000023897:P351Q;ENSP00000393097:P351Q;ENSP00000377517:P351Q;ENSP00000415441:P351Q;ENSP00000408041:P351Q;ENSP00000414232:P351Q	ENSP00000023897:P351Q	P	+	2	0	GABRA1	161255445	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.703000	0.54808	2.461000	0.83175	0.650000	0.86243	CCA		0.398	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		31	35	1	0	4.75e-14	5.2e-14	31	35				
BTNL9	153579	broad.mit.edu	37	5	180472573	180472573	+	Silent	SNP	C	C	T	rs201199198		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:180472573C>T	ENST00000327705.9	+	2	315	c.84C>T	c.(82-84)ctC>ctT	p.L28L	BTNL9_ENST00000515271.1_Intron|BTNL9_ENST00000376842.3_Silent_p.L28L|BTNL9_ENST00000376841.2_Silent_p.L28L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	28						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCCTCCTCCTTCAGCCTG	0.607																																						uc003mmt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(82-84)CTC>CTT		butyrophilin-like 9 precursor							105.0	90.0	95.0					5																	180472573		2203	4296	6499	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180472573C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.84C>T	5.37:g.180472573C>T						BTNL9_uc011dhi.1_Intron	p.L28L	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	315	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	28					A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.84C>T	CCDS4460.2																																																																																				0.607	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		5	39	0	0	0	0	5	39				
HIST1H2AB	8335	broad.mit.edu	37	6	26033738	26033738	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:26033738G>C	ENST00000259791.2	-	1	58	c.59C>G	c.(58-60)tCt>tGt	p.S20C	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	20						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCTGCACGAGAAGACCGAGT	0.572																																						uc003nft.1		NA																	0					0						c.(58-60)TCT>TGT		histone cluster 1, H2ab							69.0	75.0	73.0					6																	26033738		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033738G>C	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.59C>G	6.37:g.26033738G>C	ENSP00000259791:p.Ser20Cys					HIST1H3B_uc003nfs.1_5'Flank	p.S20C	NM_003513	NP_003504	P04908	H2A1B_HUMAN			1	59	-			20					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.59C>G	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	g	11.11	1.543417	0.27563	.	.	ENSG00000137259	ENST00000259791	T	0.48522	0.81	5.49	5.49	0.81192	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.34507	U	0.003918	T	0.62183	0.2407	.	.	.	0.46336	D	0.998991	P	0.43352	0.804	P	0.57911	0.829	T	0.64127	-0.6480	9	0.87932	D	0	.	18.7226	0.91702	0.0:0.0:1.0:0.0	.	20	P04908	H2A1B_HUMAN	C	20	ENSP00000259791:S20C	ENSP00000259791:S20C	S	-	2	0	HIST1H2AB	26141717	1.000000	0.71417	0.079000	0.20413	0.006000	0.05464	7.822000	0.86651	2.716000	0.92895	0.655000	0.94253	TCT		0.572	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		5	106	0	0	0	0	5	106				
ZKSCAN4	387032	broad.mit.edu	37	6	28215883	28215883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:28215883C>G	ENST00000377294.2	-	3	859	c.616G>C	c.(616-618)Gat>Cat	p.D206H	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.D51H	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	206					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCATTGCATCTTCTCTGCAG	0.572																																						uc003nks.1		NA																	0				ovary(1)	1						c.(616-618)GAT>CAT		zinc finger with KRAB and SCAN domains 4							45.0	39.0	41.0					6																	28215883		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28215883C>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.616G>C	6.37:g.28215883C>G	ENSP00000366509:p.Asp206His					ZKSCAN4_uc011dlb.1_Missense_Mutation_p.D51H	p.D206H	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			3	860	-			206					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.616G>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295388	0.23564	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.19105	2.17;2.17	4.62	2.67	0.31697	.	.	.	.	.	T	0.10937	0.0267	L	0.27053	0.805	0.20821	N	0.999849	D	0.67145	0.996	P	0.55667	0.781	T	0.09228	-1.0684	9	0.54805	T	0.06	.	5.6889	0.17819	0.0:0.6935:0.1997:0.1068	.	206	Q969J2	ZKSC4_HUMAN	H	206;51	ENSP00000366509:D206H;ENSP00000401978:D51H	ENSP00000366509:D206H	D	-	1	0	ZKSCAN4	28323862	0.002000	0.14202	0.644000	0.29465	0.266000	0.26442	0.519000	0.22862	1.234000	0.43709	0.650000	0.86243	GAT		0.572	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		9	18	0	0	0	0	9	18				
CYP21A1P	1590	broad.mit.edu	37	6	31975151	31975151	+	5'Flank	SNP	T	T	G	rs41315836	byFrequency	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:31975151T>G	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGAAGGGCACTTGCACATGGC	0.607																																						uc010jtp.2		NA																	0					0						c.(844-846)TTG>GTG		SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;																																				SO:0001631	upstream_gene_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31975151T>G																													6.37:g.31975151T>G	Exception_encountered					CYP21A2_uc011dpb.1_Missense_Mutation_p.L252V	p.L282V			P08686	CP21A_HUMAN			8	962	+			281	V->I: Normal KM but 50% reduced Vmax.|V->T: Normal KM but 10% reduced Vmax.	V -> G (in AH3; salt wasting form).				Missense_Mutation	SNP	ENST00000594256.1	37	c.844T>G																																																																																					0.607	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	22	0	0	0	0	3	22				
NOTCH4	4855	broad.mit.edu	37	6	32169064	32169064	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:32169064C>G	ENST00000375023.3	-	22	4107	c.3969G>C	c.(3967-3969)ctG>ctC	p.L1323L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1323					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTCCTACCCTCAGAGTCAGGG	0.642																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3967-3969)CTG>CTC		notch4 preproprotein							50.0	56.0	54.0					6																	32169064		1509	2709	4218	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169064C>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3969G>C	6.37:g.32169064C>G						NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.L1323L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			22	4108	-			1323			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.3969G>C	CCDS34420.1																																																																																				0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	67	0	0	0	0	7	67				
SPDEF	25803	broad.mit.edu	37	6	34512160	34512160	+	Missense_Mutation	SNP	G	G	A	rs375427681	byFrequency	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:34512160G>A	ENST00000374037.3	-	2	487	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	SPDEF_ENST00000544425.1_Missense_Mutation_p.R25W	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	25					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						AAGCCTGTCCGCGACACCGTG	0.716													G|||	2	0.000399361	0.0	0.0	5008	,	,		15026	0.002		0.0	False		,,,				2504	0.0					uc003ojq.1		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(73-75)CGG>TGG		SAM pointed domain containing ets transcription							12.0	14.0	13.0					6																	34512160		2102	4108	6210	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34512160G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.73C>T	6.37:g.34512160G>A	ENSP00000363149:p.Arg25Trp					SPDEF_uc011dsq.1_Missense_Mutation_p.R25W	p.R25W	NM_012391	NP_036523	O95238	SPDEF_HUMAN			2	488	-			25					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.73C>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525460	0.27299	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.15603	2.41;2.65	4.97	1.94	0.25998	.	1.677330	0.03782	N	0.261492	T	0.09202	0.0227	N	0.24115	0.695	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.53861	0.736;0.548	T	0.27839	-1.0062	10	0.59425	D	0.04	.	6.9744	0.24666	0.0806:0.0:0.4755:0.4438	.	25;25	F5H778;O95238	.;SPDEF_HUMAN	W	25	ENSP00000363149:R25W;ENSP00000442715:R25W	ENSP00000363149:R25W	R	-	1	2	SPDEF	34620138	0.002000	0.14202	0.009000	0.14445	0.064000	0.16182	0.757000	0.26433	0.440000	0.26502	-0.293000	0.09583	CGG		0.716	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		5	36	0	0	0	0	5	36				
PRICKLE4	29964	broad.mit.edu	37	6	41753185	41753185	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:41753185G>C	ENST00000394260.1	+	3	369	c.369G>C	c.(367-369)ctG>ctC	p.L123L	PRICKLE4_ENST00000359201.5_Silent_p.L163L|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000394259.1_Silent_p.L123L|PRICKLE4_ENST00000458694.1_Silent_p.L163L|PRICKLE4_ENST00000394263.1_Silent_p.L163L|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	123	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	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)			GCCAGGCCCTGATAAACCTCA	0.617																																						uc011duf.1		NA																	0					0						c.(487-489)CTG>CTC		over-expressed breast tumor protein							47.0	49.0	48.0					6																	41753185		2203	4300	6503	SO:0001819	synonymous_variant	29964					nucleus	zinc ion binding	g.chr6:41753185G>C	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.369G>C	6.37:g.41753185G>C						PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	p.L163L	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	737	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		123			LIM zinc-binding 1.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	ENST00000394260.1	37	c.489G>C																																																																																					0.617	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		5	58	0	0	0	0	5	58				
PKHD1	5314	broad.mit.edu	37	6	51890330	51890330	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:51890330C>T	ENST00000371117.3	-	32	4553	c.4278G>A	c.(4276-4278)tcG>tcA	p.S1426S	PKHD1_ENST00000340994.4_Silent_p.S1426S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1426	IPT/TIG 9.				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)					TAAAAGGACCCGAGAGGTCAA	0.537																																						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.(4276-4278)TCG>TCA		fibrocystin isoform 1							96.0	104.0	101.0					6																	51890330		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.chr6:51890330C>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.4278G>A	6.37:g.51890330C>T						PKHD1_uc003pai.2_Silent_p.S1426S	p.S1426S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4554	-	Lung NSC(77;0.0605)		1426			IPT/TIG 9.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.4278G>A	CCDS4935.1																																																																																				0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		28	110	0	0	0	0	28	110				
RAB23	51715	broad.mit.edu	37	6	57061369	57061369	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:57061369C>T	ENST00000317483.3	-	4	896	c.277G>A	c.(277-279)Gat>Aat	p.D93N	RAB23_ENST00000468148.1_Missense_Mutation_p.D93N	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	93					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTCCCTATCTGTGGTAGAG	0.383																																						uc003pds.2		NA																	0				skin(1)	1						c.(277-279)GAT>AAT		Ras-related protein Rab-23							96.0	84.0	88.0					6																	57061369		2203	4300	6503	SO:0001583	missense	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57061369C>T	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.277G>A	6.37:g.57061369C>T	ENSP00000320413:p.Asp93Asn					RAB23_uc003pdt.2_Missense_Mutation_p.D93N|RAB23_uc010kac.2_Missense_Mutation_p.D93N|RAB23_uc010kad.2_Intron	p.D93N	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	483	-	Lung NSC(77;0.121)		93					B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	c.277G>A	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	C	37	6.154667	0.97329	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.81078	-1.45;-1.45	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82889	0.5135	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.66979	0.948	T	0.79257	-0.1878	10	0.35671	T	0.21	-16.5266	20.8794	0.99867	0.0:1.0:0.0:0.0	.	93	Q9ULC3	RAB23_HUMAN	N	93	ENSP00000320413:D93N;ENSP00000417610:D93N	ENSP00000320413:D93N	D	-	1	0	RAB23	57169328	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.463000	0.80869	2.941000	0.99782	0.655000	0.94253	GAT		0.383	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			6	65	0	0	0	0	6	65				
CD109	135228	broad.mit.edu	37	6	74516607	74516607	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:74516607C>G	ENST00000287097.5	+	25	3113	c.3001C>G	c.(3001-3003)Cct>Gct	p.P1001A	CD109_ENST00000422508.2_Missense_Mutation_p.P924A|CD109_ENST00000437994.2_Missense_Mutation_p.P1001A			Q6YHK3	CD109_HUMAN	CD109 molecule	1001					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAAGCCGATCCTTACATAGA	0.343																																						uc003php.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(3001-3003)CCT>GCT		CD109 antigen isoform 1 precursor							66.0	60.0	62.0					6																	74516607		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74516607C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3001C>G	6.37:g.74516607C>G	ENSP00000287097:p.Pro1001Ala					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.P1001A|CD109_uc010kba.2_Missense_Mutation_p.P924A	p.P1001A	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			25	3426	+			1001					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3001C>G	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	3.789	-0.044083	0.07452	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.36699	1.24;1.24;1.24	4.62	0.736	0.18307	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.974771	0.08478	N	0.939894	T	0.08358	0.0208	N	0.17901	0.54	0.09310	N	1	B;B;B	0.26935	0.164;0.093;0.051	B;B;B	0.25405	0.041;0.044;0.06	T	0.38672	-0.9650	10	0.19147	T	0.46	.	10.1688	0.42897	0.0:0.7017:0.0:0.2983	.	924;1001;1001	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	A	1001;924;1001	ENSP00000388062:P1001A;ENSP00000404475:P924A;ENSP00000287097:P1001A	ENSP00000287097:P1001A	P	+	1	0	CD109	74573328	0.190000	0.23276	0.850000	0.33497	0.876000	0.50452	0.380000	0.20602	0.255000	0.21593	0.650000	0.86243	CCT		0.343	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		4	30	0	0	0	0	4	30				
ZNF292	23036	broad.mit.edu	37	6	87969609	87969609	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:87969609G>C	ENST00000369577.3	+	8	6305	c.6262G>C	c.(6262-6264)Gaa>Caa	p.E2088Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2083Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2088						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCATAAAAAAGAAAAGGAGGA	0.388																																						uc003plm.3		NA																	0				ovary(4)	4						c.(6262-6264)GAA>CAA		zinc finger protein 292							59.0	61.0	60.0					6																	87969609		1855	4080	5935	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969609G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6262G>C	6.37:g.87969609G>C	ENSP00000358590:p.Glu2088Gln						p.E2088Q	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6303	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2088					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6262G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727415	0.69074	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.09255	3.0;3.01	5.77	5.77	0.91146	.	0.150292	0.64402	D	0.000015	T	0.24586	0.0596	M	0.63843	1.955	0.40214	D	0.977669	D	0.76494	0.999	D	0.80764	0.994	T	0.00290	-1.1843	10	0.42905	T	0.14	.	19.9886	0.97358	0.0:0.0:1.0:0.0	.	2088	O60281	ZN292_HUMAN	Q	2088;2083	ENSP00000358590:E2088Q;ENSP00000342847:E2083Q	ENSP00000342847:E2083Q	E	+	1	0	ZNF292	88026328	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.838000	0.55828	2.735000	0.93741	0.655000	0.94253	GAA		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	45	0	0	0	0	7	45				
CNR1	1268	broad.mit.edu	37	6	88853849	88853849	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:88853849C>A	ENST00000537554.1	-	2	4707	c.1145G>T	c.(1144-1146)tGc>tTc	p.C382F	CNR1_ENST00000369501.2_Missense_Mutation_p.C382F|CNR1_ENST00000535130.1_Missense_Mutation_p.C382F|CNR1_ENST00000549716.1_Missense_Mutation_p.C321F|CNR1_ENST00000549890.1_Missense_Mutation_p.C382F|CNR1_ENST00000369499.2_Missense_Mutation_p.C382F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.C349F|CNR1_ENST00000428600.2_Missense_Mutation_p.C382F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	382					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAGCATACTGCAGAATGCAAA	0.507																																						uc011dzq.1		NA																	0				skin(2)	2						c.(1144-1146)TGC>TTC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						126.0	119.0	121.0					6																	88853849		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853849C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1145G>T	6.37:g.88853849C>A	ENSP00000441046:p.Cys382Phe					CNR1_uc010kbz.2_Missense_Mutation_p.C382F|CNR1_uc011dzr.1_Missense_Mutation_p.C382F|CNR1_uc011dzs.1_Missense_Mutation_p.C382F|CNR1_uc003pmq.3_Missense_Mutation_p.C382F|CNR1_uc011dzt.1_Missense_Mutation_p.C382F|CNR1_uc010kca.2_Missense_Mutation_p.C349F	p.C382F	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4708	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	382			Helical; Name=7; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1145G>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882540	0.51908	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	N	0.21545	0.675	0.80722	D	1	D;D	0.69078	0.997;0.988	D;D	0.80764	0.994;0.928	T	0.58618	-0.7605	10	0.02654	T	1	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	349;382	P21554-3;P21554	.;CNR1_HUMAN	F	382;382;382;382;382;349;382;321	ENSP00000358513:C382F;ENSP00000442689:C382F;ENSP00000441046:C382F;ENSP00000358511:C382F;ENSP00000446819:C382F;ENSP00000420188:C349F;ENSP00000412192:C382F;ENSP00000449549:C321F	ENSP00000358511:C382F	C	-	2	0	CNR1	88910568	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.026000	0.70873	2.880000	0.98712	0.655000	0.94253	TGC		0.507	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			18	49	1	0	3.52e-12	3.83e-12	18	49				
PREP	5550	broad.mit.edu	37	6	105824004	105824004	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:105824004G>C	ENST00000369110.3	-	4	573	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	127					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACTTACCTCGGAGTGCCACTG	0.522																																						uc003prc.2		NA																	0				ovary(3)	3						c.(379-381)CTC>CTG		prolyl endopeptidase	Oxytocin(DB00107)						84.0	83.0	84.0					6																	105824004		2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105824004G>C		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.381C>G	6.37:g.105824004G>C							p.L127L	NM_002726	NP_002717	P48147	PPCE_HUMAN			4	584	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	127					Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.381C>G	CCDS5053.1																																																																																				0.522	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			17	38	0	0	0	0	17	38				
REV3L	5980	broad.mit.edu	37	6	111697577	111697577	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:111697577C>T	ENST00000358835.3	-	14	2435	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	REV3L_ENST00000368802.3_Missense_Mutation_p.D661N|REV3L_ENST00000368805.1_Missense_Mutation_p.D661N|REV3L_ENST00000435970.1_Missense_Mutation_p.D583N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	661					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCATAATCAAAAATACTA	0.323								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1981-1983)GAT>AAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							55.0	57.0	56.0					6																	111697577		2203	4296	6499	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697577C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1981G>A	6.37:g.111697577C>T	ENSP00000351697:p.Asp661Asn					REV3L_uc003pux.3_Missense_Mutation_p.D583N|REV3L_uc003puz.3_Missense_Mutation_p.D583N	p.D661N	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2304	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	661					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1981G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697255	0.30142	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01584	4.84;4.84;4.84;4.75	5.31	4.44	0.53790	Ribonuclease H-like (1);	0.484211	0.20689	N	0.087485	T	0.00754	0.0025	N	0.24115	0.695	0.39763	D	0.972051	B	0.12630	0.006	B	0.12156	0.007	T	0.52888	-0.8515	10	0.66056	D	0.02	-17.0328	11.5826	0.50900	0.0:0.9167:0.0:0.0833	.	661	O60673	DPOLZ_HUMAN	N	661;661;661;583	ENSP00000357792:D661N;ENSP00000357795:D661N;ENSP00000351697:D661N;ENSP00000402003:D583N	ENSP00000351697:D661N	D	-	1	0	REV3L	111804270	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.297000	0.43593	1.235000	0.43724	0.563000	0.77884	GAT		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		15	38	0	0	0	0	15	38				
FYN	2534	broad.mit.edu	37	6	112035585	112035585	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:112035585A>T	ENST00000354650.3	-	5	915	c.309T>A	c.(307-309)ttT>ttA	p.F103L	FYN_ENST00000538466.1_Missense_Mutation_p.F103L|FYN_ENST00000368682.3_Missense_Mutation_p.F103L|FYN_ENST00000368667.2_Missense_Mutation_p.F103L|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.F103L|FYN_ENST00000229471.4_Missense_Mutation_p.F103L|FYN_ENST00000356013.2_Missense_Mutation_p.F103L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	103	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTCCTTTGTGAAAACTCAGGT	0.428																																						uc003pvj.2		NA																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(307-309)TTT>TTA		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						95.0	90.0	92.0					6																	112035585		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112035585A>T	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.309T>A	6.37:g.112035585A>T	ENSP00000346671:p.Phe103Leu					FYN_uc003pvi.2_Missense_Mutation_p.F103L|FYN_uc003pvk.2_Missense_Mutation_p.F103L|FYN_uc003pvh.2_Missense_Mutation_p.F103L	p.F103L	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	4	649	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	103			SH3.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.309T>A	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	A	34	5.350709	0.95830	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000356013;ENST00000538466;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598;ENST00000518630;ENST00000523570;ENST00000484067;ENST00000521062	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	2.24;0.38;2.24;0.38;2.24;2.24;2.24;2.24;1.18;1.18;1.18;1.18;1.18;1.18;1.18;2.24;2.24;2.24;2.24	5.77	4.62	0.57501	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.71871	2.18	0.80722	D	1	P;P;D	0.53151	0.891;0.69;0.958	P;B;P	0.57283	0.817;0.435;0.68	T	0.62511	-0.6839	10	0.66056	D	0.02	.	12.0138	0.53303	0.9325:0.0:0.0675:0.0	.	103;103;103	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	L	103	ENSP00000357671:F103L;ENSP00000346671:F103L;ENSP00000229471:F103L;ENSP00000357656:F103L;ENSP00000357667:F103L;ENSP00000348295:F103L;ENSP00000440646:F103L;ENSP00000427993:F103L;ENSP00000429294:F103L;ENSP00000429866:F103L;ENSP00000428695:F103L;ENSP00000430364:F103L;ENSP00000428493:F103L;ENSP00000429992:F103L;ENSP00000429590:F103L;ENSP00000429813:F103L;ENSP00000428045:F103L;ENSP00000428983:F103L;ENSP00000428042:F103L	ENSP00000229471:F103L	F	-	3	2	FYN	112142278	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.456000	0.60081	1.122000	0.41944	0.533000	0.62120	TTT		0.428	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			5	58	0	0	0	0	5	58				
HS3ST5	222537	broad.mit.edu	37	6	114378934	114378934	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:114378934G>A	ENST00000312719.5	-	5	1716	c.528C>T	c.(526-528)atC>atT	p.I176I	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I176I			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCAACAACTTGATGGATGAGT	0.403																																						uc003pwg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(526-528)ATC>ATT		heparan sulfate (glucosamine)							193.0	195.0	194.0					6																	114378934		2203	4300	6503	SO:0001819	synonymous_variant	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378934G>A	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.528C>T	6.37:g.114378934G>A						uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.I176I	p.I176I	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	560	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	176			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	c.528C>T	CCDS34517.1																																																																																				0.403	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		43	247	0	0	0	0	43	247				
SYNE1	23345	broad.mit.edu	37	6	152770688	152770688	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:152770688C>G	ENST00000367255.5	-	28	4085	c.3484G>C	c.(3484-3486)Gag>Cag	p.E1162Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1169Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1169Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1152Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1162Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1228Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1162Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1162					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTTTAACCTCTCCGTGGTTG	0.403										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3484-3486)GAG>CAG		spectrin repeat containing, nuclear envelope 1							125.0	115.0	119.0					6																	152770688		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152770688C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3484G>C	6.37:g.152770688C>G	ENSP00000356224:p.Glu1162Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1169Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1162Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1145Q|SYNE1_uc003qow.2_Missense_Mutation_p.E457Q|SYNE1_uc003qox.1_Missense_Mutation_p.E678Q	p.E1162Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	28	4086	-		Ovarian(120;0.0955)	1162			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3484G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994297	0.19043	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	6.07	2.91	0.33838	.	0.747211	0.12300	N	0.481256	T	0.08313	0.0207	N	0.13098	0.295	0.19300	N	0.999972	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.10450	0.004;0.0;0.003;0.005;0.0;0.002	T	0.30794	-0.9966	10	0.45353	T	0.12	.	7.3887	0.26897	0.0:0.5201:0.3186:0.1614	.	1145;1162;1152;1162;1162;1169	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Q	1162;1169;1162;1169;1228;1162;1152;1162	ENSP00000356224:E1162Q;ENSP00000396024:E1169Q;ENSP00000265368:E1162Q;ENSP00000390975:E1169Q;ENSP00000341887:E1228Q;ENSP00000356222:E1162Q;ENSP00000356217:E1152Q;ENSP00000414510:E1162Q	ENSP00000265368:E1162Q	E	-	1	0	SYNE1	152812381	0.703000	0.27826	0.005000	0.12908	0.012000	0.07955	1.506000	0.35747	0.889000	0.36185	0.655000	0.94253	GAG		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	46	0	0	0	0	25	46				
DMTF1	9988	broad.mit.edu	37	7	86817567	86817567	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:86817567C>T	ENST00000394703.5	+	15	1924	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	DMTF1_ENST00000414194.2_Missense_Mutation_p.S188F|DMTF1_ENST00000432937.2_Missense_Mutation_p.S366F|DMTF1_ENST00000331242.7_Missense_Mutation_p.S454F|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	454	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACAGCCATCTCTTCTAGCCCC	0.423																																						uc003uih.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1360-1362)TCT>TTT		cyclin D binding myb-like transcription factor 1							175.0	167.0	170.0					7																	86817567		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817567C>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1361C>T	7.37:g.86817567C>T	ENSP00000378193:p.Ser454Phe					DMTF1_uc003uii.2_Missense_Mutation_p.S188F|DMTF1_uc003uij.2_Missense_Mutation_p.S188F|DMTF1_uc011khb.1_Missense_Mutation_p.S366F|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S454F|DMTF1_uc003uin.2_Missense_Mutation_p.S188F	p.S454F	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			13	1687	+	Esophageal squamous(14;0.0058)		454			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.1361C>T	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738678	0.69304	.	.	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.51574	0.71;0.7;0.71;0.73	5.57	5.57	0.84162	.	0.222648	0.47852	D	0.000211	T	0.39886	0.1095	N	0.19112	0.55	0.53688	D	0.999979	B	0.22480	0.07	B	0.28011	0.085	T	0.22103	-1.0226	10	0.52906	T	0.07	-2.1873	18.9103	0.92481	0.0:1.0:0.0:0.0	.	454	Q9Y222	DMTF1_HUMAN	F	454;366;454;188	ENSP00000332171:S454F;ENSP00000412532:S366F;ENSP00000378193:S454F;ENSP00000415910:S188F	ENSP00000332171:S454F	S	+	2	0	DMTF1	86655503	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.270000	0.78493	2.780000	0.95670	0.655000	0.94253	TCT		0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		56	114	0	0	0	0	56	114				
RUNDC3B	154661	broad.mit.edu	37	7	87339931	87339931	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:87339931G>C	ENST00000338056.3	+	5	880	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	RUNDC3B_ENST00000496000.1_3'UTR|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E140Q|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E140Q	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	157	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACATTTATCTGAATACATCTC	0.303																																						uc003ujb.2		NA																	0				skin(1)	1						c.(469-471)GAA>CAA		RUN domain containing 3B isoform a							39.0	40.0	39.0					7																	87339931		2203	4294	6497	SO:0001583	missense	154661							g.chr7:87339931G>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.469G>C	7.37:g.87339931G>C	ENSP00000337732:p.Glu157Gln					ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.E140Q|RUNDC3B_uc011khe.1_Missense_Mutation_p.E140Q|RUNDC3B_uc003ujc.2_Missense_Mutation_p.E140Q|RUNDC3B_uc003ujd.2_Missense_Mutation_p.E62Q	p.E157Q	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			5	880	+	Esophageal squamous(14;0.00164)		157			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.469G>C	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811384	0.90707	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.28454	1.61;1.61;1.61	5.68	5.68	0.88126	RUN (3);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;0.989;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.991;0.979;0.998	T	0.56147	-0.8027	10	0.59425	D	0.04	-15.7655	19.807	0.96535	0.0:0.0:1.0:0.0	.	140;140;62;140;157	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	Q	157;140;140	ENSP00000337732:E157Q;ENSP00000420394:E140Q;ENSP00000378149:E140Q	ENSP00000337732:E157Q	E	+	1	0	RUNDC3B	87177867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.987000	0.93497	2.690000	0.91761	0.655000	0.94253	GAA		0.303	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		14	29	0	0	0	0	14	29				
C7orf62	219557	broad.mit.edu	37	7	88424117	88424117	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:88424117A>T	ENST00000297203.2	-	2	325	c.140T>A	c.(139-141)cTt>cAt	p.L47H	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	47										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CATCCTATCAAGAAGGAATTT	0.388																																						uc003ujv.2		NA																	0					0						c.(139-141)CTT>CAT		hypothetical protein LOC219557							125.0	133.0	130.0					7																	88424117		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424117A>T	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.140T>A	7.37:g.88424117A>T	ENSP00000297203:p.Leu47His					ZNF804B_uc011khi.1_Intron	p.L47H	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	322	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		47						Missense_Mutation	SNP	ENST00000297203.2	37	c.140T>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238795	0.58995	.	.	ENSG00000164645	ENST00000297203	T	0.27557	1.66	6.16	6.16	0.99307	.	0.180691	0.38663	N	0.001605	T	0.55878	0.1948	M	0.77103	2.36	0.40145	D	0.97687	D	0.89917	1.0	D	0.70935	0.971	T	0.61855	-0.6977	10	0.87932	D	0	-5.2535	13.1979	0.59749	1.0:0.0:0.0:0.0	.	47	Q8TBZ9	CG062_HUMAN	H	47	ENSP00000297203:L47H	ENSP00000297203:L47H	L	-	2	0	C7orf62	88262053	0.986000	0.35501	0.415000	0.26534	0.512000	0.34134	4.247000	0.58750	2.367000	0.80283	0.528000	0.53228	CTT		0.388	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		40	97	0	0	0	0	40	97				
COL1A2	1278	broad.mit.edu	37	7	94043559	94043559	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:94043559C>A	ENST00000297268.6	+	29	2162	c.1691C>A	c.(1690-1692)gCt>gAt	p.A564D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	564			A -> T (in dbSNP:rs41317153). {ECO:0000269|PubMed:18272325}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCAGGTCCCGCTGGTGAAGTT	0.433										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1690-1692)GCT>GAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						63.0	65.0	64.0					7																	94043559		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94043559C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1691C>A	7.37:g.94043559C>A	ENSP00000297268:p.Ala564Asp	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.A564D	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		29	2162	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		564					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1691C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155335	0.57259	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93488	-3.23	5.13	5.13	0.70059	.	0.636659	0.16485	N	0.212363	D	0.86468	0.5940	N	0.03224	-0.385	0.30860	N	0.733574	B	0.28713	0.22	B	0.31290	0.127	D	0.84650	0.0700	10	0.72032	D	0.01	.	18.1264	0.89587	0.0:1.0:0.0:0.0	.	564	P08123	CO1A2_HUMAN	D	564;565	ENSP00000297268:A564D	ENSP00000297268:A564D	A	+	2	0	COL1A2	93881495	0.979000	0.34478	0.901000	0.35422	0.579000	0.36224	2.966000	0.49208	2.838000	0.97847	0.591000	0.81541	GCT		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		7	33	1	0	3.1e-07	3.32e-07	7	33				
NPTX2	4885	broad.mit.edu	37	7	98256519	98256519	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:98256519C>T	ENST00000265634.3	+	4	1096	c.931C>T	c.(931-933)Cac>Tac	p.H311Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	311	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTGGCACCACATCTGTGT	0.637																																						uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(931-933)CAC>TAC		neuronal pentraxin II precursor							91.0	75.0	80.0					7																	98256519		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256519C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.931C>T	7.37:g.98256519C>T	ENSP00000265634:p.His311Tyr						p.H311Y	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1108	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		311			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.931C>T	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175049	0.94807	.	.	ENSG00000106236	ENST00000265634	T	0.70282	-0.47	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90550	0.4508	10	0.72032	D	0.01	-5.023	18.4968	0.90867	0.0:1.0:0.0:0.0	.	311	P47972	NPTX2_HUMAN	Y	311	ENSP00000265634:H311Y	ENSP00000265634:H311Y	H	+	1	0	NPTX2	98094455	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.682000	0.91365	0.655000	0.94253	CAC		0.637	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		19	30	0	0	0	0	19	30				
SLC26A5	375611	broad.mit.edu	37	7	103017279	103017279	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:103017279A>G	ENST00000306312.3	-	19	2278	c.2017T>C	c.(2017-2019)Tat>Cat	p.Y673H	SLC26A5_ENST00000339444.6_Missense_Mutation_p.Y673H|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Y641H|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Y636H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Y643H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Y675H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Y641H|SLC26A5_ENST00000354356.4_Missense_Mutation_p.Y106H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	673	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGTATACATATATACCGACG	0.313																																						uc003vbz.2		NA																	0				ovary(1)	1						c.(2017-2019)TAT>CAT		prestin isoform a							112.0	115.0	114.0					7																	103017279		2203	4296	6499	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103017279A>G	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2017T>C	7.37:g.103017279A>G	ENSP00000304783:p.Tyr673His					SLC26A5_uc003vbt.1_Missense_Mutation_p.Y673H|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.Y641H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.Y673H	NM_198999	NP_945350	P58743	S26A5_HUMAN			19	2253	-			673			Cytoplasmic (Potential).|STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.2017T>C	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216393	0.58452	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.98	5.98	0.97165	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.505329	0.22684	N	0.056917	D	0.86489	0.5945	L	0.27053	0.805	0.24977	N	0.991623	B;D;D	0.64830	0.34;0.994;0.979	B;P;P	0.58266	0.318;0.836;0.666	T	0.79704	-0.1692	10	0.40728	T	0.16	.	11.5865	0.50920	0.867:0.0:0.0:0.133	.	673;641;673	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	H	673;673;641;641;106;636;675;643	ENSP00000342396:Y673H;ENSP00000304783:Y673H;ENSP00000377331:Y641H;ENSP00000389733:Y641H;ENSP00000346325:Y106H;ENSP00000377330:Y636H;ENSP00000377328:Y675H;ENSP00000377324:Y643H	ENSP00000304783:Y673H	Y	-	1	0	SLC26A5	102804515	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.504000	0.35726	2.301000	0.77427	0.524000	0.50904	TAT		0.313	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		14	58	0	0	0	0	14	58				
CTTNBP2	83992	broad.mit.edu	37	7	117431659	117431659	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:117431659T>A	ENST00000160373.3	-	4	1682	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	531	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACACCATGAGTCTTTAAACTG	0.547																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1591-1593)ACT>TCT		cortactin binding protein 2							100.0	104.0	103.0					7																	117431659		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431659T>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1591A>T	7.37:g.117431659T>A	ENSP00000160373:p.Thr531Ser						p.T531S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1683	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		531			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1591A>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.215|9.215	1.031850|1.031850	0.19590|0.19590	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.37752	.|1.18	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.050382	.|0.85682	.|D	.|0.000000	T|T	0.28234|0.28234	0.0697|0.0697	L|L	0.53617|0.53617	1.68|1.68	0.28974|0.28974	N|N	0.889044|0.889044	.|P	.|0.45474	.|0.859	.|B	.|0.37833	.|0.259	T|T	0.21415|0.21415	-1.0246|-1.0246	5|10	.|0.08381	.|T	.|0.77	0.5698|0.5698	11.2018|11.2018	0.48745|0.48745	0.1369:0.0:0.0:0.8631|0.1369:0.0:0.0:0.8631	.|.	.|531	.|Q8WZ74	.|CTTB2_HUMAN	V|S	59|531	.|ENSP00000160373:T531S	.|ENSP00000160373:T531S	D|T	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117218895|117218895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.203000|0.203000	0.24098|0.24098	3.659000|3.659000	0.54489|0.54489	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	GAC|ACT		0.547	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		42	79	0	0	0	0	42	79				
RBM28	55131	broad.mit.edu	37	7	127964661	127964661	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:127964661C>G	ENST00000223073.2	-	12	1404	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	RBM28_ENST00000415472.2_Missense_Mutation_p.K289N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	430					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCTTCTTCACCTTCGTCGTCT	0.557																																						uc003vmp.2		NA																	0				ovary(2)	2						c.(1288-1290)AAG>AAC		RNA binding motif protein 28							165.0	163.0	164.0					7																	127964661		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964661C>G	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1290G>C	7.37:g.127964661C>G	ENSP00000223073:p.Lys430Asn					RBM28_uc003vmo.2_Missense_Mutation_p.K47N|RBM28_uc011koj.1_Missense_Mutation_p.K289N|RBM28_uc011kok.1_Missense_Mutation_p.K377N	p.K430N	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			12	1405	-			430					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1290G>C	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200220	0.38905	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.27104	2.63;1.69	5.63	1.66	0.24008	.	0.158997	0.56097	D	0.000036	T	0.20700	0.0498	L	0.57536	1.79	0.53688	D	0.999971	B;B;B	0.17465	0.01;0.022;0.01	B;B;B	0.17722	0.019;0.011;0.019	T	0.05209	-1.0899	10	0.33141	T	0.24	-22.6024	5.0223	0.14367	0.147:0.6053:0.0:0.2476	.	289;430;289	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	N	430;289	ENSP00000223073:K430N;ENSP00000390517:K289N	ENSP00000223073:K430N	K	-	3	2	RBM28	127751897	0.996000	0.38824	1.000000	0.80357	0.948000	0.59901	0.272000	0.18644	0.438000	0.26450	-0.812000	0.03155	AAG		0.557	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		26	207	0	0	0	0	26	207				
AHCYL2	23382	broad.mit.edu	37	7	129028933	129028933	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:129028933C>T	ENST00000325006.3	+	3	566	c.512C>T	c.(511-513)tCg>tTg	p.S171L	AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S90L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S69L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S170L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	171					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GATGAGACATCGCCCAGGGAC	0.398																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1		NA																	0				ovary(2)	2						c.(511-513)TCG>TTG		S-adenosylhomocysteine hydrolase-like 2 isoform							100.0	94.0	96.0					7																	129028933		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129028933C>T	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.512C>T	7.37:g.129028933C>T	ENSP00000315931:p.Ser171Leu					AHCYL2_uc003vot.2_Missense_Mutation_p.S170L|AHCYL2_uc003vov.2_Missense_Mutation_p.S68L|AHCYL2_uc011kow.1_Missense_Mutation_p.S69L|AHCYL2_uc011kox.1_Missense_Mutation_p.S68L	p.S171L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			3	566	+			171					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.512C>T	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.086009|5.086009	0.94100|0.94100	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.15;-1.14;-1.14;-1.14;-0.96	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85039|0.85039	0.5606|0.5606	L|L	0.45352|0.45352	1.415|1.415	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.996;0.996;0.996;0.996;0.998	D|D	0.86023|0.86023	0.1508|0.1508	5|10	.|0.87932	.|D	.|0	-15.2176|-15.2176	18.6782|18.6782	0.91537|0.91537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|68;69;171;68;170	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	C|L	78|171;170;90;69;68;69;68;69	.|ENSP00000315931:S171L;ENSP00000413639:S170L;ENSP00000431787:S90L;ENSP00000420459:S68L;ENSP00000405267:S69L;ENSP00000420801:S68L;ENSP00000419608:S69L	.|ENSP00000315931:S171L	R|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128816169|128816169	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	7.776000|7.776000	0.85560|0.85560	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.398	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			19	49	0	0	0	0	19	49				
ZC3HAV1	56829	broad.mit.edu	37	7	138774437	138774437	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:138774437A>T	ENST00000242351.5	-	2	693	c.377T>A	c.(376-378)cTc>cAc	p.L126H	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L126H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L126H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	126	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGTCCAGAGAGTTCGTGATT	0.408																																						uc003vun.2		NA																	0				ovary(1)	1						c.(376-378)CTC>CAC		zinc finger antiviral protein isoform 1							125.0	112.0	116.0					7																	138774437		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138774437A>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.377T>A	7.37:g.138774437A>T	ENSP00000242351:p.Leu126His					ZC3HAV1_uc003vup.2_Missense_Mutation_p.L126H	p.L126H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			2	765	-			126					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.377T>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620826	0.46736	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.49139	0.79;0.79;0.79	4.21	4.21	0.49690	.	0.000000	0.40640	N	0.001044	T	0.66237	0.2769	M	0.77103	2.36	0.43673	D	0.9961	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70048	-0.4979	10	0.87932	D	0	.	9.8581	0.41098	1.0:0.0:0.0:0.0	.	126;126	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	H	126	ENSP00000242351:L126H;ENSP00000418385:L126H;ENSP00000419855:L126H	ENSP00000242351:L126H	L	-	2	0	ZC3HAV1	138424977	0.658000	0.27402	0.803000	0.32268	0.409000	0.31022	4.905000	0.63286	1.895000	0.54865	0.528000	0.53228	CTC		0.408	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		26	11	0	0	0	0	26	11				
MTMR9	66036	broad.mit.edu	37	8	11172549	11172549	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:11172549C>T	ENST00000221086.3	+	7	1562	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Silent_p.A278A	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	363	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GTTTTGAGGCCCTGATTGAAA	0.483																																						uc003wtm.2		NA																	0					0						c.(1087-1089)GCC>GCT		myotubularin related protein 9							170.0	149.0	156.0					8																	11172549		2203	4300	6503	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11172549C>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1089C>T	8.37:g.11172549C>T						MTMR9_uc010lrx.2_Silent_p.A256A|MTMR9_uc011kxa.1_Silent_p.A278A	p.A363A	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	7	1487	+			363			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.1089C>T	CCDS5979.1																																																																																				0.483	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		48	114	0	0	0	0	48	114				
BIN3	55909	broad.mit.edu	37	8	22487967	22487967	+	Missense_Mutation	SNP	G	G	T	rs373245133		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:22487967G>T	ENST00000276416.6	-	5	353	c.285C>A	c.(283-285)ttC>ttA	p.F95L	BIN3_ENST00000520292.1_Missense_Mutation_p.F95L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.F47L|BIN3_ENST00000519513.1_Missense_Mutation_p.F41L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	95	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTTCCTGATTGAAGGCATCCA	0.592																																						uc003xcl.2		NA																	0					0						c.(283-285)TTC>TTA		bridging integrator 3							204.0	204.0	204.0					8																	22487967		2017	4171	6188	SO:0001583	missense	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22487967G>T		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.285C>A	8.37:g.22487967G>T	ENSP00000276416:p.Phe95Leu					BIN3_uc003xck.2_Missense_Mutation_p.F47L|BIN3_uc010ltw.2_Missense_Mutation_p.F41L	p.F95L	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	5	382	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	95			BAR.		Q9BVG2|Q9NVY9	Missense_Mutation	SNP	ENST00000276416.6	37	c.285C>A	CCDS47825.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073146	0.36566	.	.	ENSG00000147439	ENST00000276416;ENST00000519513;ENST00000399977;ENST00000520292	T;T;T;T	0.60797	0.16;0.16;0.16;0.52	5.57	4.59	0.56863	BAR (3);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.41710	1.295	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.15484	0.006;0.013	T	0.22138	-1.0225	10	0.02654	T	1	-22.7225	8.99	0.36017	0.1337:0.0:0.8663:0.0	.	95;95	Q9NQY0;Q53HW0	BIN3_HUMAN;.	L	95;41;47;95	ENSP00000276416:F95L;ENSP00000430423:F41L;ENSP00000382859:F47L;ENSP00000429660:F95L	ENSP00000276416:F95L	F	-	3	2	BIN3	22543912	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.669000	0.46825	2.624000	0.88883	0.655000	0.94253	TTC		0.592	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			36	186	1	0	3.62e-18	3.98e-18	36	186				
NEFM	4741	broad.mit.edu	37	8	24771655	24771655	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:24771655G>C	ENST00000221166.5	+	1	1131	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	NEFM_ENST00000437366.2_Missense_Mutation_p.E117Q|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E117Q|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	117	Coil 1A.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCTACATAGAGAAGGTGCA	0.647																																						uc003xed.3		NA																	0				breast(1)	1						c.(349-351)GAG>CAG		neurofilament, medium polypeptide 150kDa isoform							16.0	20.0	19.0					8																	24771655		2201	4298	6499	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771655G>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.349G>C	8.37:g.24771655G>C	ENSP00000221166:p.Glu117Gln					NEFM_uc011lac.1_Missense_Mutation_p.E117Q|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	p.E117Q	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	382	+		Prostate(55;0.157)	117			Rod.|Coil 1A.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.349G>C	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002231	0.54254	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91521	-2.86;-2.86;-2.86	4.04	4.04	0.47022	Filament (1);	0.000000	0.47852	D	0.000220	D	0.95066	0.8402	M	0.80183	2.485	0.54753	D	0.99998	D;D	0.76494	0.999;0.994	D;P	0.75020	0.985;0.892	D	0.95475	0.8555	10	0.56958	D	0.05	.	16.7219	0.85412	0.0:0.0:1.0:0.0	.	117;117	E7EMV2;P07197	.;NFM_HUMAN	Q	117	ENSP00000221166:E117Q;ENSP00000427872:E117Q;ENSP00000410137:E117Q	ENSP00000221166:E117Q	E	+	1	0	NEFM	24827560	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	9.584000	0.98220	2.232000	0.73038	0.467000	0.42956	GAG		0.647	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		3	13	0	0	0	0	3	13				
DCTN6	10671	broad.mit.edu	37	8	30038087	30038087	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30038087G>C	ENST00000221114.3	+	6	502	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Missense_Mutation_p.E139Q	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	139					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AGTCATCCCTGAGAATACGGT	0.438																																						uc003xhy.2		NA																	0				ovary(1)	1						c.(415-417)GAG>CAG		dynactin 6							146.0	121.0	129.0					8																	30038087		2203	4300	6503	SO:0001583	missense	10671					centrosome	transferase activity	g.chr8:30038087G>C	D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.415G>C	8.37:g.30038087G>C	ENSP00000221114:p.Glu139Gln						p.E139Q	NM_006571	NP_006562	O00399	DCTN6_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	6	502	+			139					B2RAC1	Missense_Mutation	SNP	ENST00000221114.3	37	c.415G>C	CCDS6076.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799978	0.90538	.	.	ENSG00000104671	ENST00000221114;ENST00000520829	.	.	.	5.32	5.32	0.75619	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.85041	2.73	0.80722	D	1	P	0.42649	0.786	B	0.42062	0.374	T	0.76764	-0.2839	9	0.66056	D	0.02	-23.9648	16.4918	0.84203	0.0:0.0:1.0:0.0	.	139	O00399	DCTN6_HUMAN	Q	139	.	ENSP00000221114:E139Q	E	+	1	0	DCTN6	30157629	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.638000	0.91019	2.486000	0.83907	0.460000	0.39030	GAG		0.438	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375815.2	NM_006571		10	43	0	0	0	0	10	43				
RBPMS	11030	broad.mit.edu	37	8	30402106	30402106	+	Missense_Mutation	SNP	C	C	G	rs367843710		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30402106C>G	ENST00000320203.4	+	6	1075	c.493C>G	c.(493-495)Cct>Gct	p.P165A	RBPMS_ENST00000520191.1_Missense_Mutation_p.P61A|RBPMS_ENST00000287771.5_Missense_Mutation_p.P165A|RBPMS_ENST00000519647.1_Missense_Mutation_p.P61A|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000397323.4_Missense_Mutation_p.P165A|RBPMS_ENST00000339877.4_Missense_Mutation_p.P165A|RBPMS_ENST00000520161.1_Missense_Mutation_p.P61A|RBPMS_ENST00000517860.1_Missense_Mutation_p.P165A	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	165					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCTACCTCCTCCTGCTTTCAC	0.562																																						uc003xic.1		NA																	0				ovary(1)	1						c.(493-495)CCT>GCT		RNA-binding protein with multiple splicing		C	ALA/PRO,ALA/PRO,ALA/PRO,ALA/PRO	0,4406		0,0,2203	188.0	171.0	177.0		493,493,493,493	5.1	1.0	8		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RBPMS	NM_001008710.1,NM_001008711.1,NM_001008712.1,NM_006867.2	27,27,27,27	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	165/197,165/205,165/220,165/197	30402106	1,13005	2203	4300	6503	SO:0001583	missense	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30402106C>G	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.493C>G	8.37:g.30402106C>G	ENSP00000318102:p.Pro165Ala					RBPMS_uc003xid.1_Missense_Mutation_p.P165A|RBPMS_uc003xie.1_Missense_Mutation_p.P165A|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Missense_Mutation_p.P165A|RBPMS_uc003xib.2_Missense_Mutation_p.P165A|RBPMS_uc010lvh.1_Missense_Mutation_p.P61A	p.P165A	NM_006867	NP_006858	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	6	1158	+			165					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Missense_Mutation	SNP	ENST00000320203.4	37	c.493C>G	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829719	0.71258	0.0	1.16E-4	ENSG00000157110	ENST00000397323;ENST00000339877;ENST00000320203;ENST00000287771;ENST00000517860;ENST00000520161;ENST00000519647;ENST00000520191	T;T;T;T;T	0.38560	1.4;1.13;1.4;1.47;1.29	6.02	5.13	0.70059	.	0.240925	0.41712	N	0.000827	T	0.39733	0.1089	N	0.11313	0.125	0.80722	D	1	B;B;D;D	0.67145	0.0;0.005;0.993;0.996	B;B;D;D	0.73708	0.002;0.006;0.956;0.981	T	0.25257	-1.0137	10	0.02654	T	1	-18.9307	14.8913	0.70611	0.0:0.8558:0.1442:0.0	.	165;165;165;165	B4E3T4;Q93062-2;Q93062;Q93062-3	.;.;RBPMS_HUMAN;.	A	165;165;165;165;165;61;61;61	ENSP00000380486:P165A;ENSP00000340176:P165A;ENSP00000318102:P165A;ENSP00000287771:P165A;ENSP00000428675:P165A	ENSP00000287771:P165A	P	+	1	0	RBPMS	30521648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.342000	0.65970	1.519000	0.48950	0.655000	0.94253	CCT		0.562	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			8	159	0	0	0	0	8	159				
PURG	29942	broad.mit.edu	37	8	30889927	30889927	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30889927C>T	ENST00000475541.1	-	1	1304	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PURG_ENST00000339382.2_Silent_p.E124E|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	124						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGGCATAGTGCTCGATGAAGT	0.597																																						uc003xin.2		NA																	0					0						c.(370-372)GAG>GAA		purine-rich element binding protein G isoform A							84.0	85.0	85.0					8																	30889927		2203	4300	6503	SO:0001819	synonymous_variant	29942					nucleus	DNA binding	g.chr8:30889927C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.372G>A	8.37:g.30889927C>T						WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.E124E	p.E124E	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	391	-			124			By similarity.		Q8TE64	Silent	SNP	ENST00000475541.1	37	c.372G>A	CCDS6081.1																																																																																				0.597	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		15	92	0	0	0	0	15	92				
RB1CC1	9821	broad.mit.edu	37	8	53569790	53569790	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:53569790G>C	ENST00000025008.5	-	15	3122	c.2599C>G	c.(2599-2601)Cta>Gta	p.L867V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.L867V|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L867V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	867					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAGACAGTAGTTCTTTTTGA	0.264																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NA																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(2599-2601)CTA>GTA		Rb1-inducible coiled coil protein 1 isoform 1							31.0	33.0	32.0					8																	53569790		2187	4272	6459	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569790G>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2599C>G	8.37:g.53569790G>C	ENSP00000025008:p.Leu867Val					RB1CC1_uc003xrf.3_Missense_Mutation_p.L867V	p.L867V	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	3157	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	867			Potential.		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2599C>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170801	0.38315	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04234	3.67;3.67;3.67	5.38	3.59	0.41128	.	0.068852	0.64402	D	0.000014	T	0.06508	0.0167	L	0.34521	1.04	0.50313	D	0.999862	P;P	0.48503	0.911;0.856	P;B	0.46389	0.515;0.317	T	0.33189	-0.9878	10	0.52906	T	0.07	-8.7	11.7968	0.52104	0.1426:0.0:0.8574:0.0	.	867;867	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	V	867	ENSP00000025008:L867V;ENSP00000396067:L867V;ENSP00000445960:L867V	ENSP00000025008:L867V	L	-	1	2	RB1CC1	53732343	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.300000	0.33436	0.756000	0.33013	0.563000	0.77884	CTA		0.264	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		7	33	0	0	0	0	7	33				
MOS	4342	broad.mit.edu	37	8	57025630	57025630	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:57025630G>A	ENST00000311923.1	-	1	911	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGAGTCCTCGAAGACGGCAG	0.682																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(910-912)TTC>TTT		v-mos Moloney murine sarcoma viral oncogene							27.0	28.0	28.0					8																	57025630		2202	4300	6502	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025630G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.912C>T	8.37:g.57025630G>A							p.F304F	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	912	-			304			Protein kinase.		Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.912C>T	CCDS6164.1																																																																																				0.682	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		6	29	0	0	0	0	6	29				
CSPP1	79848	broad.mit.edu	37	8	68028195	68028195	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:68028195A>G	ENST00000262210.5	+	11	1350	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	CSPP1_ENST00000412460.1_Missense_Mutation_p.E146G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	475					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CACTTTGAAGAGATGATACCA	0.408																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(1423-1425)GAG>GGG		centrosome spindle pole associated protein 1							169.0	162.0	164.0					8																	68028195		1878	4115	5993	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68028195A>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1319A>G	8.37:g.68028195A>G	ENSP00000262210:p.Glu440Gly					CSPP1_uc003xxg.1_Missense_Mutation_p.E467G|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E440G|CSPP1_uc003xxk.2_Missense_Mutation_p.E146G	p.E475G	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		13	1455	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	475					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1424A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550072	0.86127	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.36520	1.25;1.27;1.27	5.61	5.61	0.85477	.	0.068217	0.56097	D	0.000025	T	0.56891	0.2016	L	0.56769	1.78	0.37752	D	0.926028	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.85130	0.997;0.992;0.974;0.974	T	0.64145	-0.6476	10	0.87932	D	0	-15.3351	14.7901	0.69833	1.0:0.0:0.0:0.0	.	146;440;475;475	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	G	440;475;146;146	ENSP00000262210:E440G;ENSP00000415782:E146G;ENSP00000430092:E146G	ENSP00000262210:E440G	E	+	2	0	CSPP1	68190749	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	6.393000	0.73217	2.147000	0.66899	0.533000	0.62120	GAG		0.408	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		37	81	0	0	0	0	37	81				
KIAA1429	25962	broad.mit.edu	37	8	95504890	95504890	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:95504890T>C	ENST00000297591.5	-	21	4873	c.4798A>G	c.(4798-4800)Ata>Gta	p.I1600V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1600					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)			CTTGACGTTATAAAGGTCTCA	0.383																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(4798-4800)ATA>GTA		hypothetical protein LOC25962 isoform 1							148.0	142.0	144.0					8																	95504890		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95504890T>C	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.4798A>G	8.37:g.95504890T>C	ENSP00000297591:p.Ile1600Val					KIAA1429_uc010maz.1_RNA	p.I1600V	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		21	4811	-	Breast(36;3.29e-05)		1600					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4798A>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342458	0.41498	.	.	ENSG00000164944	ENST00000297591	T	0.48836	0.8	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.59436	1.845	0.80722	D	1	P	0.46327	0.876	D	0.64595	0.927	T	0.59841	-0.7378	10	0.30854	T	0.27	-17.3735	15.505	0.75731	0.0:0.0:0.0:1.0	.	1600	Q69YN4	VIR_HUMAN	V	1600	ENSP00000297591:I1600V	ENSP00000297591:I1600V	I	-	1	0	KIAA1429	95574066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.652000	0.83633	2.060000	0.61445	0.477000	0.44152	ATA		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		10	74	0	0	0	0	10	74				
IFNA8	3445	broad.mit.edu	37	9	21409512	21409512	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:21409512G>C	ENST00000380205.1	+	1	367	c.337G>C	c.(337-339)Gac>Cac	p.D113H		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	113					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.D113H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CATCGAACTTGACCAGCAGCT	0.502																																						uc003zpc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(337-339)GAC>CAC		interferon, alpha 8 precursor							109.0	106.0	107.0					9																	21409512		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409512G>C		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.337G>C	9.37:g.21409512G>C	ENSP00000369553:p.Asp113His						p.D113H	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	367	+			113					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.337G>C	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.842279	0.00573	.	.	ENSG00000120242	ENST00000380205	T	0.03004	4.08	3.48	-6.95	0.01628	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.152180	0.06328	N	0.705591	T	0.01765	0.0056	N	0.16066	0.365	0.09310	N	1	B	0.10296	0.003	B	0.18871	0.023	T	0.48139	-0.9061	10	0.10111	T	0.7	.	3.8847	0.09093	0.1113:0.2765:0.4605:0.1517	.	113	P32881	IFNA8_HUMAN	H	113	ENSP00000369553:D113H	ENSP00000369553:D113H	D	+	1	0	IFNA8	21399512	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.223000	0.00140	-1.344000	0.02216	-0.714000	0.03626	GAC		0.502	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		26	45	0	0	0	0	26	45				
GBA2	57704	broad.mit.edu	37	9	35751957	35751957	+	5'Flank	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:35751957C>T	ENST00000378103.3	-	0	0				GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.S256L|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.S296L	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCCAGTTTTCAGTCAGCTTA	0.577																																						uc011lpf.1		NA																	0				ovary(1)	1						c.(766-768)TCA>TTA		RGP1 retrograde golgi transport homolog							76.0	78.0	77.0					9																	35751957		2112	4251	6363	SO:0001631	upstream_gene_variant	9827							g.chr9:35751957C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751957C>T	Exception_encountered					GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.S296L	p.S256L	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		8	908	+	all_epithelial(49;0.167)		256					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.767C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130679	0.94473	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	L	0.55017	1.72	0.80722	D	1	P;P	0.47604	0.898;0.898	P;P	0.59221	0.854;0.854	T	0.62305	-0.6882	9	0.10636	T	0.68	-11.935	19.5674	0.95401	0.0:1.0:0.0:0.0	.	256;256	Q92546;A8K0K1	RGP1_HUMAN;.	L	296;256	.	ENSP00000367318:S256L	S	+	2	0	RGP1	35741957	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.872000	0.75536	2.873000	0.98535	0.561000	0.74099	TCA		0.577	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		5	24	0	0	0	0	5	24				
CBWD6	644019	broad.mit.edu	37	9	69238279	69238279	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:69238279T>C	ENST00000377457.5	-	8	718	c.613A>G	c.(613-615)Aca>Gca	p.T205A	CBWD6_ENST00000382399.4_Missense_Mutation_p.T185A|CBWD6_ENST00000377449.1_Missense_Mutation_p.T169A	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	205							ATP binding (GO:0005524)			lung(4)	4						ACCAAGTCTGTTTTATTAATG	0.313																																						uc004afj.3		NA																	0					0						c.(613-615)ACA>GCA		COBW domain containing 6							102.0	144.0	128.0					9																	69238279		1337	2292	3629	SO:0001583	missense	644019						ATP binding	g.chr9:69238279T>C		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.613A>G	9.37:g.69238279T>C	ENSP00000366677:p.Thr205Ala					CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron	p.T205A	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN			8	719	-			205			ATP (Potential).			Missense_Mutation	SNP	ENST00000377457.5	37	c.613A>G	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	6.070	0.381262	0.11466	.	.	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.44083	0.93;0.93;0.93	2.49	2.49	0.30216	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.049031	0.85682	D	0.000000	T	0.44286	0.1286	L	0.37750	1.13	0.47183	D	0.999344	P	0.47191	0.891	P	0.57720	0.826	T	0.20405	-1.0276	10	0.33940	T	0.23	-12.2595	8.5159	0.33246	0.0:0.0:0.0:1.0	.	205	Q4V339	CBWD6_HUMAN	A	205;169;185;205	ENSP00000366677:T205A;ENSP00000366668:T169A;ENSP00000371836:T185A	ENSP00000366664:T205A	T	-	1	0	CBWD6	68528099	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.640000	0.67875	1.150000	0.42419	0.155000	0.16302	ACA		0.313	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		35	110	0	0	0	0	35	110				
PIP5K1B	8395	broad.mit.edu	37	9	71606110	71606110	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:71606110G>A	ENST00000265382.3	+	15	1862	c.1557G>A	c.(1555-1557)ttG>ttA	p.L519L	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	519					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCATCTACTTGACCGCTGAGC	0.448																																						uc004agu.2		NA																	0				stomach(1)	1						c.(1555-1557)TTG>TTA		phosphatidylinositol-4-phosphate 5-kinase, type							148.0	132.0	137.0					9																	71606110		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606110G>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1557G>A	9.37:g.71606110G>A						PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_RNA	p.L519L	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	15	1862	+			519					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.1557G>A	CCDS6624.1																																																																																				0.448	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		9	95	0	0	0	0	9	95				
FAM120A	23196	broad.mit.edu	37	9	96291798	96291798	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:96291798G>C	ENST00000277165.6	+	9	1864	c.1670G>C	c.(1669-1671)aGa>aCa	p.R557T	FAM120A_ENST00000333936.5_Missense_Mutation_p.R585T|FAM120A_ENST00000375389.3_Missense_Mutation_p.R557T|FAM120A_ENST00000340893.4_Missense_Mutation_p.R557T|FAM120A_ENST00000475933.1_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	557						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTGCTGAGAGTGGCCGAG	0.592																																						uc004atw.2		NA																	0					0						c.(1669-1671)AGA>ACA		oxidative stress-associated Src activator							78.0	71.0	74.0					9																	96291798		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96291798G>C	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1670G>C	9.37:g.96291798G>C	ENSP00000277165:p.Arg557Thr					FAM120A_uc004atv.2_Missense_Mutation_p.R557T|FAM120A_uc004atx.2_Missense_Mutation_p.R339T|FAM120A_uc004aty.2_Missense_Mutation_p.R338T|FAM120A_uc004atz.2_Missense_Mutation_p.R206T|FAM120A_uc010mrf.1_RNA|FAM120A_uc010mrg.2_5'Flank	p.R557T	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			9	1695	+			557					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.1670G>C	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.823355|4.823355	0.90873|0.90873	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.58940	.|0.3;0.3;0.3;0.3	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75413|0.75413	0.3846|0.3846	M|M	0.64404|0.64404	1.975|1.975	0.53005|0.53005	D|D	0.999964|0.999964	.|D;P;D;P;D	.|0.89917	.|0.989;0.955;0.989;0.917;1.0	.|D;P;D;P;D	.|0.83275	.|0.985;0.777;0.978;0.583;0.996	T|T	0.77120|0.77120	-0.2705|-0.2705	5|10	.|0.87932	.|D	.|0	-13.9661|-13.9661	19.4173|19.4173	0.94706|0.94706	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|557;585;557;557;557	.|Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.|.;.;.;F120A_HUMAN;.	Q|T	400|557;557;585;557	.|ENSP00000364538:R557T;ENSP00000277165:R557T;ENSP00000334918:R585T;ENSP00000344698:R557T	.|ENSP00000277165:R557T	E|R	+|+	1|2	0|0	FAM120A|FAM120A	95331619|95331619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.165000|9.165000	0.94761|0.94761	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.592	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		15	65	0	0	0	0	15	65				
FAM120A	23196	broad.mit.edu	37	9	96320925	96320925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:96320925C>T	ENST00000277165.6	+	15	2925	c.2731C>T	c.(2731-2733)Cgt>Tgt	p.R911C	FAM120A_ENST00000333936.5_Missense_Mutation_p.R939C|FAM120A_ENST00000340893.4_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	911	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGTGCCTTCCGTGTGGCGGC	0.612																																						uc004atw.2		NA																	0					0						c.(2731-2733)CGT>TGT		oxidative stress-associated Src activator							55.0	57.0	56.0					9																	96320925		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96320925C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2731C>T	9.37:g.96320925C>T	ENSP00000277165:p.Arg911Cys					FAM120A_uc004aty.2_Missense_Mutation_p.R692C|FAM120A_uc004atz.2_Missense_Mutation_p.R560C|FAM120A_uc010mrg.2_Intron	p.R911C	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			15	2756	+			911			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.2731C>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908767	0.72868	.	.	ENSG00000048828	ENST00000277165;ENST00000333936	T;T	0.34472	1.38;1.36	5.77	2.95	0.34219	.	0.222920	0.31612	N	0.007351	T	0.40670	0.1126	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.79108	0.992;0.736	T	0.25950	-1.0117	10	0.87932	D	0	-14.7898	7.3158	0.26499	0.1361:0.7245:0.0:0.1394	.	939;911	Q9NZB2-6;Q9NZB2	.;F120A_HUMAN	C	911;939	ENSP00000277165:R911C;ENSP00000334918:R939C	ENSP00000277165:R911C	R	+	1	0	FAM120A	95360746	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.268000	0.51585	0.367000	0.24454	-0.150000	0.13652	CGT		0.612	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		18	96	0	0	0	0	18	96				
RBM18	92400	broad.mit.edu	37	9	125004258	125004258	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:125004258C>G	ENST00000417201.3	-	6	618	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	160							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GCTGGATACTCTGCATCAGGA	0.408																																						uc004bma.2		NA																	0					0						c.(478-480)GAG>CAG		RNA binding motif protein 18							122.0	114.0	117.0					9																	125004258		2203	4300	6503	SO:0001583	missense	92400						nucleotide binding|RNA binding	g.chr9:125004258C>G	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.478G>C	9.37:g.125004258C>G	ENSP00000409315:p.Glu160Gln					RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	p.E160Q	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			6	644	-			160					B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	37	c.478G>C	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571272	0.28003	.	.	ENSG00000119446	ENST00000417201	T	0.11712	2.75	5.53	5.53	0.82687	.	0.313960	0.34750	N	0.003719	T	0.05960	0.0155	N	0.08118	0	0.35882	D	0.82903	B	0.31655	0.334	B	0.29176	0.099	T	0.46898	-0.9158	10	0.22706	T	0.39	-22.4093	13.4135	0.60956	0.1569:0.8431:0.0:0.0	.	160	Q96H35	RBM18_HUMAN	Q	160	ENSP00000409315:E160Q	ENSP00000409315:E160Q	E	-	1	0	RBM18	124044079	0.954000	0.32549	1.000000	0.80357	0.988000	0.76386	2.824000	0.48088	2.600000	0.87896	0.491000	0.48974	GAG		0.408	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117		13	78	0	0	0	0	13	78				
COL5A1	1289	broad.mit.edu	37	9	137623932	137623932	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:137623932G>T	ENST00000371817.3	+	9	1762	c.1348G>T	c.(1348-1350)Ggc>Tgc	p.G450C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	450	Interrupted collagenous 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)		AGGACCTCGGGGCGAGAAAGG	0.527																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1348-1350)GGC>TGC		alpha 1 type V collagen preproprotein							112.0	101.0	105.0					9																	137623932		2203	4300	6503	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.chr9:137623932G>T	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.1348G>T	9.37:g.137623932G>T	ENSP00000360882:p.Gly450Cys						p.G450C	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)	9	1730	+		Myeloproliferative disorder(178;0.0341)	450			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1348G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018660	0.54576	.	.	ENSG00000130635	ENST00000371817	D	0.97976	-4.64	4.53	4.53	0.55603	.	0.000000	0.85682	U	0.000000	D	0.98359	0.9455	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99814	1.1043	10	0.87932	D	0	.	16.2528	0.82494	0.0:0.0:1.0:0.0	.	450	P20908	CO5A1_HUMAN	C	450	ENSP00000360882:G450C	ENSP00000360882:G450C	G	+	1	0	COL5A1	136763753	1.000000	0.71417	0.968000	0.41197	0.521000	0.34408	6.979000	0.76154	2.044000	0.60594	0.462000	0.41574	GGC		0.527	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		67	56	1	0	7.07e-35	7.82e-35	67	56				
MAMDC4	158056	broad.mit.edu	37	9	139751179	139751179	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:139751179G>A	ENST00000317446.2	+	15	1788	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	MAMDC4_ENST00000445819.1_Missense_Mutation_p.E659K|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGTAACTTTGAGCGGGACAC	0.662																																						uc004cjs.2		NA																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(1738-1740)GAG>AAG		apical early endosomal glycoprotein precursor							56.0	46.0	49.0					9																	139751179		2195	4295	6490	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751179G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1738G>A	9.37:g.139751179G>A	ENSP00000319388:p.Glu580Lys					MAMDC4_uc011mej.1_5'UTR	p.E580K	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	15	1788	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	659			MAM 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317446.2	37	c.1738G>A	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	15.71	2.914841	0.52546	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.04194	3.68;3.68	4.92	4.92	0.64577	.	0.296081	0.24033	N	0.042179	T	0.30417	0.0764	H	0.96080	3.765	0.22601	N	0.998946	D	0.71674	0.998	D	0.67548	0.952	T	0.42916	-0.9423	10	0.66056	D	0.02	-24.5763	12.9257	0.58258	0.0:0.1633:0.8367:0.0	.	580	Q6UXC1-2	.	K	580;659	ENSP00000319388:E580K;ENSP00000411339:E659K	ENSP00000319388:E580K	E	+	1	0	MAMDC4	138871000	1.000000	0.71417	0.986000	0.45419	0.129000	0.20672	3.166000	0.50785	2.266000	0.75297	0.448000	0.29417	GAG		0.662	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		10	23	0	0	0	0	10	23				
PPP2R3B	28227	broad.mit.edu	37	X	306382	306382	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:306382G>A	ENST00000390665.3	-	7	923	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	302					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTGATGTCCGCCTCCTCCTC	0.637																																						uc004cpg.2		NA																	0					0						c.(904-906)GCG>GTG		protein phosphatase 2, regulatory subunit B'',							187.0	212.0	203.0					X																	306382		2154	4248	6402	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:306382G>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.905C>T	X.37:g.306382G>A	ENSP00000375080:p.Ala302Val					PPP2R3B_uc011mha.1_Missense_Mutation_p.A141V	p.A302V	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN			7	1106	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	302					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.905C>T	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027356	0.19512	.	.	ENSG00000167393	ENST00000390665	T	0.42900	0.96	1.92	1.92	0.25849	.	0.271235	0.29760	U	0.011275	T	0.29556	0.0737	L	0.42245	1.32	0.09310	N	1	B;B	0.34329	0.449;0.266	B;B	0.26864	0.074;0.063	T	0.20706	-1.0267	10	0.62326	D	0.03	.	9.1472	0.36939	0.0:0.0:1.0:0.0	.	141;302	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	V	302	ENSP00000375080:A302V	ENSP00000375080:A302V	A	-	2	0	PPP2R3B	226382	0.054000	0.20591	0.972000	0.41901	0.400000	0.30750	0.771000	0.26633	0.694000	0.31654	0.174000	0.16983	GCG		0.637	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		19	45	0	0	0	0	19	45				
CSF2RA	1438	broad.mit.edu	37	X	1407734	1407734	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:1407734G>A	ENST00000381524.3	+	6	612	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CSF2RA_ENST00000355805.2_Silent_p.P142P|CSF2RA_ENST00000381529.3_Silent_p.P142P|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000501036.2_Silent_p.P9P|CSF2RA_ENST00000381509.3_Silent_p.P142P|CSF2RA_ENST00000381500.1_Silent_p.P142P|CSF2RA_ENST00000432318.2_Silent_p.P142P|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000361536.3_Silent_p.P142P|CSF2RA_ENST00000355432.3_Silent_p.P142P|CSF2RA_ENST00000417535.2_Silent_p.P142P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	142					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGAGGGGTCCGACGGCCCCCC	0.478																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NA																	0				ovary(2)	2						c.(424-426)CCG>CCA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						119.0	130.0	126.0					X																	1407734		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407734G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.426G>A	X.37:g.1407734G>A						CSF2RA_uc011mhb.1_Silent_p.P142P|CSF2RA_uc004cpq.2_Silent_p.P142P|CSF2RA_uc004cpn.2_Silent_p.P142P|CSF2RA_uc004cpo.2_Silent_p.P142P|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.P9P|CSF2RA_uc004cpp.2_Silent_p.P142P|CSF2RA_uc010ncv.2_Silent_p.P142P|CSF2RA_uc004cpr.2_Silent_p.P142P	p.P142P	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			7	748	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	142			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.426G>A	CCDS35191.1																																																																																				0.478	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			53	68	0	0	0	0	53	68				
PIGA	5277	broad.mit.edu	37	X	15349714	15349714	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:15349714G>A	ENST00000333590.4	-	2	423	c.339C>T	c.(337-339)ctC>ctT	p.L113L	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	113					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ATATGTACCTGAGCAATGGCA	0.478																																						uc004cwr.2		NA																	0					0						c.(337-339)CTC>CTT		phosphatidylinositol							153.0	131.0	138.0					X																	15349714		2203	4300	6503	SO:0001819	synonymous_variant	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15349714G>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.339C>T	X.37:g.15349714G>A						PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.L113L|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.L113L	p.L113L	NM_002641	NP_002632	P37287	PIGA_HUMAN			2	439	-	Hepatocellular(33;0.183)		113			Cytoplasmic (Potential).		B4E0V2|Q16025|Q16250	Silent	SNP	ENST00000333590.4	37	c.339C>T	CCDS14165.1																																																																																				0.478	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		43	10	0	0	0	0	43	10				
SH3KBP1	30011	broad.mit.edu	37	X	19568091	19568091	+	Splice_Site	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:19568091C>T	ENST00000397821.3	-	14	1785		c.e14+1		SH3KBP1_ENST00000379716.1_Splice_Site|SH3KBP1_ENST00000541422.1_Splice_Site|SH3KBP1_ENST00000379698.4_Splice_Site	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAGACACTTACAGATGTGAGG	0.488																																						uc004czm.2		NA																	0					0						c.e14+1		SH3-domain kinase binding protein 1 isoform a							184.0	159.0	168.0					X																	19568091		2203	4300	6503	SO:0001630	splice_region_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19568091C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1494+1G>A	X.37:g.19568091C>T						SH3KBP1_uc011mje.1_Splice_Site_p.S237_splice|SH3KBP1_uc011mjf.1_Splice_Site_p.S260_splice|SH3KBP1_uc004czl.2_Splice_Site_p.S461_splice|SH3KBP1_uc010nfm.2_Splice_Site	p.S498_splice	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			14	1810	-								B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Splice_Site	SNP	ENST00000397821.3	37	c.1494_splice	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308985	0.81247	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4171	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3KBP1	19478012	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	5.652000	0.67959	2.289000	0.77006	0.600000	0.82982	.		0.488	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	Intron	5	74	0	0	0	0	5	74				
SAT1	6303	broad.mit.edu	37	X	23803928	23803928	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:23803928C>A	ENST00000379270.4	+	6	650	c.471C>A	c.(469-471)ttC>ttA	p.F157L	SAT1_ENST00000489394.1_3'UTR|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Missense_Mutation_p.F129L	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						GGAGACTGTTCAAGATCGACA	0.423																																						uc004dau.2		NA																	0					0						c.(469-471)TTC>TTA		diamine N-acetyltransferase 1	Spermine(DB00127)						79.0	69.0	72.0					X																	23803928		2203	4300	6503	SO:0001583	missense	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23803928C>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.471C>A	X.37:g.23803928C>A	ENSP00000368572:p.Phe157Leu					SAT1_uc004dav.2_RNA	p.F157L	NM_002970	NP_002961	P21673	SAT1_HUMAN			6	665	+			157			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000379270.4	37	c.471C>A	CCDS14207.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288536	0.80914	.	.	ENSG00000130066	ENST00000379270;ENST00000379254;ENST00000342463	T;T	0.40756	1.02;1.02	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.048342	0.85682	D	0.000000	T	0.60676	0.2287	M	0.73217	2.22	0.80722	D	1	D	0.63880	0.993	P	0.57101	0.813	T	0.63097	-0.6713	10	0.54805	T	0.06	.	18.6745	0.91524	0.0:1.0:0.0:0.0	.	157	P21673	SAT1_HUMAN	L	157;129;185	ENSP00000368572:F157L;ENSP00000368556:F129L	ENSP00000343343:F185L	F	+	3	2	SAT1	23713849	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.783000	0.68982	2.354000	0.79902	0.594000	0.82650	TTC		0.423	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		17	15	1	0	1.4e-16	1.54e-16	17	15				
KDM6A	7403	broad.mit.edu	37	X	44870205	44870205	+	Splice_Site	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:44870205G>A	ENST00000377967.4	+	5	425		c.e5-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(10)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCCTTTACAGAATGCTGCCT	0.299			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		17	No detectable mRNA/protein(10)|Whole gene deletion(6)|Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e5-1		ubiquitously transcribed tetratricopeptide							121.0	102.0	108.0					X																	44870205		2203	4299	6502	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44870205G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.385-1G>A	X.37:g.44870205G>A						KDM6A_uc010nhk.2_Splice_Site_p.N129_splice|KDM6A_uc011mkz.1_Splice_Site_p.N129_splice|KDM6A_uc011mla.1_Splice_Site_p.N129_splice|KDM6A_uc011mlb.1_Splice_Site_p.N129_splice|KDM6A_uc011mlc.1_Splice_Site	p.N129_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			5	760	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.385_splice	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115411	0.37339	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2912	0.90131	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44755149	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	9.225000	0.95219	2.258000	0.74832	0.506000	0.49869	.		0.299	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	5	6	0	0	0	0	5	6				
MTMR8	55613	broad.mit.edu	37	X	63555987	63555987	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:63555987T>A	ENST00000374852.3	-	10	1190	c.1123A>T	c.(1123-1125)Ata>Tta	p.I375L	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	375	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCATGGATATCCATTCCTTC	0.338																																						uc004dvs.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(1123-1125)ATA>TTA		myotubularin related protein 8							100.0	89.0	93.0					X																	63555987		2203	4299	6502	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63555987T>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1123A>T	X.37:g.63555987T>A	ENSP00000363985:p.Ile375Leu					MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Missense_Mutation_p.I375L	p.I375L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1191	-			375			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1123A>T	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.99|10.99	1.506889|1.506889	0.26949|0.26949	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000374852;ENST00000247400	.|D	.|0.91686	.|-2.89	3.14|3.14	3.14|3.14	0.36123|0.36123	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.51477	.|U	.|0.000088	T|T	0.77280|0.77280	0.4107|0.4107	N|N	0.01529|0.01529	-0.815|-0.815	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.31751	.|0.135	T|T	0.68985|0.68985	-0.5265|-0.5265	5|10	.|0.06757	.|T	.|0.87	.|.	9.995|9.995	0.41893|0.41893	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|375	.|Q96EF0	.|MTMR8_HUMAN	V|L	178|375;261	.|ENSP00000363985:I375L	.|ENSP00000247400:I261L	D|I	-|-	2|1	0|0	MTMR8|MTMR8	63472712|63472712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.802000|3.802000	0.55553|0.55553	1.281000|1.281000	0.44480|0.44480	0.486000|0.486000	0.48141|0.48141	GAT|ATA		0.338	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		33	10	0	0	0	0	33	10				
IGSF1	3547	broad.mit.edu	37	X	130412064	130412064	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:130412064C>T	ENST00000361420.3	-	13	2165	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	IGSF1_ENST00000370910.1_Missense_Mutation_p.G687S|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.G701S|IGSF1_ENST00000370904.1_Missense_Mutation_p.G687S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	696	Ig-like C2-type 7.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTTCCTGGCCCCGGATTGTG	0.532																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2086-2088)GGC>AGC		immunoglobulin superfamily, member 1 isoform 1							79.0	72.0	74.0					X																	130412064		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412064C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2086G>A	X.37:g.130412064C>T	ENSP00000355010:p.Gly696Ser					IGSF1_uc004ewe.3_Missense_Mutation_p.G690S|IGSF1_uc004ewf.2_Missense_Mutation_p.G676S	p.G696S	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			13	2324	-			696			Extracellular (Potential).|Ig-like C2-type 7.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2086G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881467	0.33255	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01464	4.86;4.86;4.86;4.86	4.72	4.72	0.59763	Immunoglobulin-like fold (1);	0.173838	0.27831	N	0.017677	T	0.15089	0.0364	H	0.94771	3.58	0.36574	D	0.873147	D;D;D	0.89917	0.971;1.0;1.0	P;D;D	0.91635	0.882;0.999;0.998	T	0.09952	-1.0651	10	0.87932	D	0	.	12.6522	0.56768	0.0:1.0:0.0:0.0	.	687;140;696	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	S	687;696;687;701	ENSP00000359947:G687S;ENSP00000355010:G696S;ENSP00000359941:G687S;ENSP00000359940:G701S	ENSP00000355010:G696S	G	-	1	0	IGSF1	130239745	1.000000	0.71417	0.721000	0.30653	0.041000	0.13682	2.358000	0.44134	2.283000	0.76528	0.594000	0.82650	GGC		0.532	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			37	18	0	0	0	0	37	18				
ZNF75D	7626	broad.mit.edu	37	X	134426280	134426280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:134426280C>T	ENST00000370766.3	-	4	3240	c.531G>A	c.(529-531)tgG>tgA	p.W177*	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	177					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGTATGTATTCCAATATTCTT	0.498																																						uc004eyp.2		NA																	0					0						c.(529-531)TGG>TGA		zinc finger protein 75							134.0	118.0	123.0					X																	134426280		2203	4300	6503	SO:0001587	stop_gained	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134426280C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.531G>A	X.37:g.134426280C>T	ENSP00000359802:p.Trp177*					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	p.W177*	NM_007131	NP_009062	P51815	ZN75D_HUMAN			4	3186	-			177					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Nonsense_Mutation	SNP	ENST00000370766.3	37	c.531G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	54	23.090098	0.99952	.	.	ENSG00000186376	ENST00000370766	.	.	.	2.3	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	6.1512	0.20313	0.0:0.6853:0.3147:0.0	.	.	.	.	X	177	.	ENSP00000359802:W177X	W	-	3	0	ZNF75D	134253946	0.097000	0.21791	0.347000	0.25668	0.805000	0.45488	0.025000	0.13577	0.377000	0.24735	0.513000	0.50165	TGG		0.498	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		5	77	0	0	0	0	5	77				
LDOC1	23641	broad.mit.edu	37	X	140270912	140270912	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:140270912C>T	ENST00000370526.2	-	1	398	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	99					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TCCTCGGCTTCCCCGGTGAGG	0.557																																						uc004fbj.2		NA																	0					0						c.(295-297)GAA>AAA		leucine zipper, down-regulated in cancer 1							149.0	121.0	130.0					X																	140270912		2203	4300	6503	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140270912C>T	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.295G>A	X.37:g.140270912C>T	ENSP00000359557:p.Glu99Lys						p.E99K	NM_012317	NP_036449	O95751	LDOC1_HUMAN			1	399	-	Acute lymphoblastic leukemia(192;7.65e-05)		99					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.295G>A	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.015640	0.35511	.	.	ENSG00000182195	ENST00000370526	T	0.28895	1.59	3.67	2.79	0.32731	.	0.104771	0.39020	N	0.001493	T	0.17916	0.0430	L	0.29908	0.895	0.24874	N	0.992265	P	0.39737	0.685	B	0.39876	0.312	T	0.13098	-1.0522	10	0.06891	T	0.86	-6.4523	8.1158	0.30942	0.0:0.7575:0.2425:0.0	.	99	O95751	LDOC1_HUMAN	K	99	ENSP00000359557:E99K	ENSP00000359557:E99K	E	-	1	0	LDOC1	140098578	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.699000	0.37804	0.900000	0.36469	0.287000	0.19450	GAA		0.557	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		38	24	0	0	0	0	38	24				
CXorf40B	541578	broad.mit.edu	37	X	149101932	149101932	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:149101932C>T	ENST00000370406.3	-	4	989	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40B_ENST00000462691.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000370404.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.R54Q			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	54										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTCCCGACAGGCATC	0.587																																						uc004fdy.2		NA																	0					0						c.(160-162)CGG>CAG		hypothetical protein LOC541578							120.0	115.0	117.0					X																	149101932		2200	4300	6500	SO:0001583	missense	541578							g.chrX:149101932C>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.161G>A	X.37:g.149101932C>T	ENSP00000359434:p.Arg54Gln					CXorf40B_uc011mxs.1_RNA	p.R54Q	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN			4	677	-	Acute lymphoblastic leukemia(192;6.56e-05)		54						Missense_Mutation	SNP	ENST00000370406.3	37	c.161G>A	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	9.222	1.033637	0.19590	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	3.24	-2.55	0.06288	PUA-like domain (1);	0.670247	0.14108	N	0.340893	D	0.84813	0.5555	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67413	-0.5677	10	0.32370	T	0.25	-5.0683	11.0496	0.47878	0.0:0.5541:0.0:0.4459	.	54	Q96DE9	CX04B_HUMAN	Q	54	ENSP00000417546:R54Q;ENSP00000359434:R54Q;ENSP00000347339:R54Q;ENSP00000359432:R54Q	ENSP00000347339:R54Q	R	-	2	0	CXorf40B	148852590	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.483000	0.06536	-1.033000	0.03299	-3.245000	0.00050	CGG		0.587	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		45	24	0	0	0	0	45	24				
ITGB1	3688	broad.mit.edu	37	10	33197461	33197462	+	Splice_Site	DEL	CT	CT	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:33197461_33197462delCT	ENST00000396033.2	-	15	2300_2301	c.2165_2166delAG	c.(2164-2166)gag>g	p.E722fs	ITGB1_ENST00000374956.4_Splice_Site_p.E722fs|ITGB1_ENST00000423113.1_Splice_Site_p.E722fs|ITGB1_ENST00000302278.3_Splice_Site_p.E722fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	722					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CAGTGGGACACTCTGGAAAATA	0.406																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2164-2166)GAGfs		integrin beta 1 isoform 1A precursor																																				SO:0001630	splice_region_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33197461_33197462delCT	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2165-1AG>-	10.37:g.33197463_33197464delCT						ITGB1_uc001iwp.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwq.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwr.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwt.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwu.1_Frame_Shift_Del_p.E722fs	p.E722fs	NM_133376	NP_596867	P05556	ITB1_HUMAN			15	2301_2302	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	722			Extracellular (Potential).		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Del	DEL	ENST00000396033.2	37	c.2165_2166delAG	CCDS7174.1																																																																																				0.406	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	Frame_Shift_Del	18	54	NA	NA	NA	NA	18	54	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413766	105413767	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105413766_105413767delAG	ENST00000333244.5	-	7	8140_8141	c.8021_8022delCT	c.(8020-8022)tctfs	p.S2674fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2674						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTCAGCTCAGACACATCCAC	0.564																																						uc010axc.1		NA																	0				ovary(1)	1						c.(8020-8022)TCTfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105413766_105413767delAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8021_8022delCT	14.37:g.105413766_105413767delAG	ENSP00000353114:p.Ser2674fs					AHNAK2_uc001ypx.2_Frame_Shift_Del_p.S2574fs	p.S2674fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8141_8142	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2674					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.8021_8022delCT	CCDS45177.1																																																																																				0.564	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		59	226	NA	NA	NA	NA	59	226	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87885358	87885359	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:87885358_87885359insA	ENST00000261622.4	-	2	700_701	c.635_636insT	c.(634-636)atcfs	p.I212fs	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	212					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	AGCCCAGCAGGATGATCAGGGC	0.668																																						uc002fkm.2		NA																	0					0						c.(634-636)ATCfs		solute carrier family 7 (cationic amino acid																																				SO:0001589	frameshift_variant	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87885358_87885359insA	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.636dupT	16.37:g.87885359_87885359dupA	ENSP00000261622:p.Ile212fs						p.I212fs	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	2	707_708	-			212			Helical; (Potential).		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Frame_Shift_Ins	INS	ENST00000261622.4	37	c.635_636insT	CCDS10964.1																																																																																				0.668	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		14	26	NA	NA	NA	NA	14	26	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790225	80790226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:80790225_80790226insA	ENST00000269394.3	-	2	938_939	c.105_106insT	c.(103-108)aatgagfs	p.E36fs	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	36					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTGACTTCTCATTGCAAGTAA	0.411																																						uc002kga.2		NA																	0				central_nervous_system(1)	1						c.(103-108)AATGAGfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80790225_80790226insA	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.106dupT	17.37:g.80790226_80790226dupA	ENSP00000269394:p.Glu36fs					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.N35fs	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	416_417	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	35_36					Q9H899	Frame_Shift_Ins	INS	ENST00000269394.3	37	c.105_106insT	CCDS11819.1																																																																																				0.411	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		69	29	NA	NA	NA	NA	69	29	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10893634	10893635	+	Splice_Site	INS	-	-	GGCTACATT			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:10893634_10893635insGGCTACATT	ENST00000355667.6	+	6	768		c.e6-1		DNM2_ENST00000359692.6_Splice_Site|DNM2_ENST00000389253.4_Splice_Site|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000314646.5_Splice_Site|DNM2_ENST00000585892.1_Splice_Site|DNM2_ENST00000408974.4_Splice_Site	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCTCCCCACAGGCTACATTGG	0.574			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.e6-1		dynamin 2 isoform 2																																				SO:0001630	splice_region_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893634_10893635insGGCTACATT		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.689-1->GGCTACATT	19.37:g.10893635_10893643dupGGCTACATT						DNM2_uc010dxk.2_Splice_Site|DNM2_uc002mpt.1_Splice_Site_p.G230_splice|DNM2_uc002mpv.1_Splice_Site_p.G230_splice|DNM2_uc002mpu.1_Splice_Site_p.G230_splice|DNM2_uc010dxl.1_Splice_Site_p.G230_splice|DNM2_uc002mpw.2_5'Flank	p.G230_splice	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	853	+								A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Splice_Site	INS	ENST00000355667.6	37	c.689_splice	CCDS45968.1																																																																																				0.574	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	Intron	9	55	NA	NA	NA	NA	9	55	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30505952	30505952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:30505952delT	ENST00000542441.2	+	11	1881	c.1584delT	c.(1582-1584)gctfs	p.A529fs	URI1_ENST00000392271.1_Frame_Shift_Del_p.A453fs|URI1_ENST00000312051.6_Frame_Shift_Del_p.A489fs|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	529					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										AGTTTAAAGCTGCCAGATTGC	0.413																																						uc002nsr.2		NA																	0				ovary(1)|kidney(1)	2						c.(1582-1584)GCTfs		RPB5-mediating protein isoform a							85.0	84.0	84.0					19																	30505952		2203	4300	6503	SO:0001589	frameshift_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30505952delT	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1584delT	19.37:g.30505952delT	ENSP00000442436:p.Ala529fs					C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Frame_Shift_Del_p.A488fs|C19orf2_uc002nst.2_Frame_Shift_Del_p.A452fs	p.A528fs	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	11	1614	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	528					A8K805|H7BY42|Q8TC23|Q9UNU3	Frame_Shift_Del	DEL	ENST00000542441.2	37	c.1584delT	CCDS12420.1																																																																																				0.413	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		27	75	NA	NA	NA	NA	27	75	---	---	---	---
ARL6IP6	151188	broad.mit.edu	37	2	153575279	153575279	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:153575279delA	ENST00000326446.5	+	1	852	c.141delA	c.(139-141)ggafs	p.G47fs	PRPF40A_ENST00000410080.1_5'Flank|PRPF40A_ENST00000486100.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	47						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGGAGGAGGGATGCGACCAAG	0.706																																						uc002tyn.2		NA																	0					0						c.(139-141)GGAfs		ADP-ribosylation-like factor 6 interacting							15.0	21.0	18.0					2																	153575279		2194	4287	6481	SO:0001589	frameshift_variant	151188					integral to membrane		g.chr2:153575279delA	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.141delA	2.37:g.153575279delA	ENSP00000315357:p.Gly47fs					ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	p.G47fs	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN			1	857	+			47					B2RDS6|Q7Z4G7	Frame_Shift_Del	DEL	ENST00000326446.5	37	c.141delA	CCDS2197.1																																																																																				0.706	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		7	17	NA	NA	NA	NA	7	17	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130984	45130985	+	Frame_Shift_Ins	INS	-	-	A	rs201701826		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:45130984_45130985insA	ENST00000347606.4	-	5	1175_1176	c.993_994insT	c.(991-996)tttcggfs	p.R332fs	ZNF334_ENST00000593880.1_Frame_Shift_Ins_p.R355fs|ZNF334_ENST00000457685.2_Frame_Shift_Ins_p.R294fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCTGACTTCCGAAAAAAGGTCT	0.436																																						uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(991-996)TTTCGGfs		zinc finger protein 334 isoform a																																				SO:0001589	frameshift_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130984_45130985insA	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.994dupT	20.37:g.45130990_45130990dupA	ENSP00000255129:p.Arg332fs					ZNF334_uc002xsa.2_Frame_Shift_Ins_p.F354fs|ZNF334_uc002xsb.2_Frame_Shift_Ins_p.F293fs|ZNF334_uc002xsd.2_Frame_Shift_Ins_p.F293fs|ZNF334_uc010ghl.2_Frame_Shift_Ins_p.F330fs	p.F331fs	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1177_1178	-		Myeloproliferative disorder(115;0.0122)	331_332			C2H2-type 4.		Q5T6U2|Q9NVW4	Frame_Shift_Ins	INS	ENST00000347606.4	37	c.993_994insT	CCDS33480.1																																																																																				0.436	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			7	185	NA	NA	NA	NA	7	185	---	---	---	---
BMP7	655	broad.mit.edu	37	20	55840910	55840910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:55840910delA	ENST00000395863.3	-	1	774	c.269delT	c.(268-270)atgfs	p.M90fs	RP4-813D12.3_ENST00000412321.1_lincRNA|BMP7_ENST00000450594.2_Frame_Shift_Del_p.M90fs|BMP7_ENST00000395864.3_Frame_Shift_Del_p.M90fs	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	90					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTCCACCGCCATGGCGTTGTA	0.672																																						uc010gip.1		NA																	0				skin(1)	1						c.(268-270)ATGfs		bone morphogenetic protein 7 precursor							20.0	21.0	20.0					20																	55840910		2200	4296	6496	SO:0001589	frameshift_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55840910delA		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.269delT	20.37:g.55840910delA	ENSP00000379204:p.Met90fs					BMP7_uc010giq.1_Frame_Shift_Del_p.M90fs|BMP7_uc002xyc.2_Frame_Shift_Del_p.M90fs|uc010gir.1_5'Flank	p.M90fs	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		1	798	-	all_lung(29;0.0133)|Melanoma(10;0.242)		90					Q9H512|Q9NTQ7	Frame_Shift_Del	DEL	ENST00000395863.3	37	c.269delT	CCDS13455.1																																																																																				0.672	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			7	9	NA	NA	NA	NA	7	9	---	---	---	---
RINT1	60561	broad.mit.edu	37	7	105190824	105190834	+	Frame_Shift_Del	DEL	TGAAAGGGAGC	TGAAAGGGAGC	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:105190824_105190834delTGAAAGGGAGC	ENST00000257700.2	+	9	1455_1465	c.1224_1234delTGAAAGGGAGC	c.(1222-1236)tttgaaagggagctafs	p.EREL409fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	409	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R410M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TACTCTTGTTTGAAAGGGAGCTACACAGTGT	0.417																																						uc003vda.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1222-1236)TTTGAAAGGGAGCTAfs		RAD50 interactor 1																																				SO:0001589	frameshift_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190824_105190834delTGAAAGGGAGC	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1224_1234delTGAAAGGGAGC	7.37:g.105190824_105190834delTGAAAGGGAGC	ENSP00000257700:p.Glu409fs					RINT1_uc010ljj.1_Intron	p.F408fs	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			9	1455_1465	+			408_412			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Frame_Shift_Del	DEL	ENST00000257700.2	37	c.1224_1234delTGAAAGGGAGC	CCDS34726.1																																																																																				0.417	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		8	183	NA	NA	NA	NA	8	183	---	---	---	---
